← Back to variant description
GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 2-113628632-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=113628632&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 113628632,
"ref": "G",
"alt": "A",
"effect": "5_prime_UTR_premature_start_codon_gain_variant",
"transcript": "NM_001354425.2",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABL2A",
"gene_hgnc_id": 9799,
"hgvs_c": "c.26G>A",
"hgvs_p": "p.Ser9Asn",
"transcript": "NM_001306158.2",
"protein_id": "NP_001293087.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 229,
"cds_start": 26,
"cds_end": null,
"cds_length": 690,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000683472.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001306158.2"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABL2A",
"gene_hgnc_id": 9799,
"hgvs_c": "c.26G>A",
"hgvs_p": "p.Ser9Asn",
"transcript": "ENST00000683472.1",
"protein_id": "ENSP00000507832.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 229,
"cds_start": 26,
"cds_end": null,
"cds_length": 690,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001306158.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000683472.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABL2A",
"gene_hgnc_id": 9799,
"hgvs_c": "c.26G>A",
"hgvs_p": "p.Ser9Asn",
"transcript": "ENST00000409875.5",
"protein_id": "ENSP00000387229.1",
"transcript_support_level": 1,
"aa_start": 9,
"aa_end": null,
"aa_length": 238,
"cds_start": 26,
"cds_end": null,
"cds_length": 717,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409875.5"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABL2A",
"gene_hgnc_id": 9799,
"hgvs_c": "c.26G>A",
"hgvs_p": "p.Ser9Asn",
"transcript": "ENST00000393165.7",
"protein_id": "ENSP00000376870.3",
"transcript_support_level": 1,
"aa_start": 9,
"aa_end": null,
"aa_length": 229,
"cds_start": 26,
"cds_end": null,
"cds_length": 690,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000393165.7"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABL2A",
"gene_hgnc_id": 9799,
"hgvs_c": "c.26G>A",
"hgvs_p": "p.Ser9Asn",
"transcript": "ENST00000393166.7",
"protein_id": "ENSP00000376871.3",
"transcript_support_level": 1,
"aa_start": 9,
"aa_end": null,
"aa_length": 228,
"cds_start": 26,
"cds_end": null,
"cds_length": 687,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000393166.7"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABL2A",
"gene_hgnc_id": 9799,
"hgvs_c": "c.26G>A",
"hgvs_p": "p.Ser9Asn",
"transcript": "ENST00000393167.7",
"protein_id": "ENSP00000376872.3",
"transcript_support_level": 1,
"aa_start": 9,
"aa_end": null,
"aa_length": 228,
"cds_start": 26,
"cds_end": null,
"cds_length": 687,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000393167.7"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABL2A",
"gene_hgnc_id": 9799,
"hgvs_c": "c.26G>A",
"hgvs_p": "p.Ser9Asn",
"transcript": "ENST00000409842.5",
"protein_id": "ENSP00000386460.1",
"transcript_support_level": 1,
"aa_start": 9,
"aa_end": null,
"aa_length": 165,
"cds_start": 26,
"cds_end": null,
"cds_length": 498,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409842.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABL2A",
"gene_hgnc_id": 9799,
"hgvs_c": "n.305G>A",
"hgvs_p": null,
"transcript": "ENST00000409121.6",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000409121.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABL2A",
"gene_hgnc_id": 9799,
"hgvs_c": "n.47G>A",
"hgvs_p": null,
"transcript": "ENST00000476236.1",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000476236.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABL2A",
"gene_hgnc_id": 9799,
"hgvs_c": "c.-253G>A",
"hgvs_p": null,
"transcript": "NM_001354425.2",
"protein_id": "NP_001341354.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 154,
"cds_start": null,
"cds_end": null,
"cds_length": 465,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354425.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABL2A",
"gene_hgnc_id": 9799,
"hgvs_c": "c.-226G>A",
"hgvs_p": null,
"transcript": "NM_001354426.2",
"protein_id": "NP_001341355.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 144,
"cds_start": null,
"cds_end": null,
"cds_length": 435,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354426.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABL2A",
"gene_hgnc_id": 9799,
"hgvs_c": "c.-171G>A",
"hgvs_p": null,
"transcript": "NM_001354427.2",
"protein_id": "NP_001341356.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 137,
"cds_start": null,
"cds_end": null,
"cds_length": 414,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354427.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABL2A",
"gene_hgnc_id": 9799,
"hgvs_c": "c.-171G>A",
"hgvs_p": null,
"transcript": "NM_001354428.2",
"protein_id": "NP_001341357.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 136,
"cds_start": null,
"cds_end": null,
"cds_length": 411,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354428.2"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABL2A",
"gene_hgnc_id": 9799,
"hgvs_c": "c.26G>A",
"hgvs_p": "p.Ser9Asn",
"transcript": "ENST00000965205.1",
"protein_id": "ENSP00000635264.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 241,
"cds_start": 26,
"cds_end": null,
"cds_length": 726,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965205.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABL2A",
"gene_hgnc_id": 9799,
"hgvs_c": "c.26G>A",
"hgvs_p": "p.Ser9Asn",
"transcript": "NM_001354405.2",
"protein_id": "NP_001341334.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 239,
"cds_start": 26,
"cds_end": null,
"cds_length": 720,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354405.2"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABL2A",
"gene_hgnc_id": 9799,
"hgvs_c": "c.26G>A",
"hgvs_p": "p.Ser9Asn",
"transcript": "NM_001354406.2",
"protein_id": "NP_001341335.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 239,
"cds_start": 26,
"cds_end": null,
"cds_length": 720,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354406.2"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABL2A",
"gene_hgnc_id": 9799,
"hgvs_c": "c.26G>A",
"hgvs_p": "p.Ser9Asn",
"transcript": "NM_001354407.2",
"protein_id": "NP_001341336.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 239,
"cds_start": 26,
"cds_end": null,
"cds_length": 720,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354407.2"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABL2A",
"gene_hgnc_id": 9799,
"hgvs_c": "c.26G>A",
"hgvs_p": "p.Ser9Asn",
"transcript": "NM_001354408.2",
"protein_id": "NP_001341337.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 239,
"cds_start": 26,
"cds_end": null,
"cds_length": 720,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354408.2"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABL2A",
"gene_hgnc_id": 9799,
"hgvs_c": "c.26G>A",
"hgvs_p": "p.Ser9Asn",
"transcript": "NM_001354409.2",
"protein_id": "NP_001341338.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 239,
"cds_start": 26,
"cds_end": null,
"cds_length": 720,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354409.2"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABL2A",
"gene_hgnc_id": 9799,
"hgvs_c": "c.26G>A",
"hgvs_p": "p.Ser9Asn",
"transcript": "ENST00000896787.1",
"protein_id": "ENSP00000566846.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 239,
"cds_start": 26,
"cds_end": null,
"cds_length": 720,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896787.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABL2A",
"gene_hgnc_id": 9799,
"hgvs_c": "c.26G>A",
"hgvs_p": "p.Ser9Asn",
"transcript": "ENST00000896790.1",
"protein_id": "ENSP00000566849.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 239,
"cds_start": 26,
"cds_end": null,
"cds_length": 720,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896790.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABL2A",
"gene_hgnc_id": 9799,
"hgvs_c": "c.26G>A",
"hgvs_p": "p.Ser9Asn",
"transcript": "ENST00000896791.1",
"protein_id": "ENSP00000566850.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 239,
"cds_start": 26,
"cds_end": null,
"cds_length": 720,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896791.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABL2A",
"gene_hgnc_id": 9799,
"hgvs_c": "c.26G>A",
"hgvs_p": "p.Ser9Asn",
"transcript": "ENST00000965202.1",
"protein_id": "ENSP00000635261.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 239,
"cds_start": 26,
"cds_end": null,
"cds_length": 720,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965202.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABL2A",
"gene_hgnc_id": 9799,
"hgvs_c": "c.26G>A",
"hgvs_p": "p.Ser9Asn",
"transcript": "ENST00000965208.1",
"protein_id": "ENSP00000635267.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 239,
"cds_start": 26,
"cds_end": null,
"cds_length": 720,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965208.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABL2A",
"gene_hgnc_id": 9799,
"hgvs_c": "c.26G>A",
"hgvs_p": "p.Ser9Asn",
"transcript": "NM_001306160.3",
"protein_id": "NP_001293089.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 238,
"cds_start": 26,
"cds_end": null,
"cds_length": 717,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001306160.3"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABL2A",
"gene_hgnc_id": 9799,
"hgvs_c": "c.26G>A",
"hgvs_p": "p.Ser9Asn",
"transcript": "NM_001354410.2",
"protein_id": "NP_001341339.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 238,
"cds_start": 26,
"cds_end": null,
"cds_length": 717,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354410.2"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABL2A",
"gene_hgnc_id": 9799,
"hgvs_c": "c.26G>A",
"hgvs_p": "p.Ser9Asn",
"transcript": "ENST00000965207.1",
"protein_id": "ENSP00000635266.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 238,
"cds_start": 26,
"cds_end": null,
"cds_length": 717,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965207.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABL2A",
"gene_hgnc_id": 9799,
"hgvs_c": "c.26G>A",
"hgvs_p": "p.Ser9Asn",
"transcript": "ENST00000896782.1",
"protein_id": "ENSP00000566841.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 235,
"cds_start": 26,
"cds_end": null,
"cds_length": 708,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896782.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABL2A",
"gene_hgnc_id": 9799,
"hgvs_c": "c.26G>A",
"hgvs_p": "p.Ser9Asn",
"transcript": "ENST00000965204.1",
"protein_id": "ENSP00000635263.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 235,
"cds_start": 26,
"cds_end": null,
"cds_length": 708,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965204.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABL2A",
"gene_hgnc_id": 9799,
"hgvs_c": "c.26G>A",
"hgvs_p": "p.Ser9Asn",
"transcript": "NM_001306159.2",
"protein_id": "NP_001293088.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 229,
"cds_start": 26,
"cds_end": null,
"cds_length": 690,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001306159.2"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABL2A",
"gene_hgnc_id": 9799,
"hgvs_c": "c.26G>A",
"hgvs_p": "p.Ser9Asn",
"transcript": "NM_001354412.2",
"protein_id": "NP_001341341.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 229,
"cds_start": 26,
"cds_end": null,
"cds_length": 690,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354412.2"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABL2A",
"gene_hgnc_id": 9799,
"hgvs_c": "c.26G>A",
"hgvs_p": "p.Ser9Asn",
"transcript": "NM_001354413.2",
"protein_id": "NP_001341342.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 229,
"cds_start": 26,
"cds_end": null,
"cds_length": 690,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354413.2"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABL2A",
"gene_hgnc_id": 9799,
"hgvs_c": "c.26G>A",
"hgvs_p": "p.Ser9Asn",
"transcript": "NM_001354414.2",
"protein_id": "NP_001341343.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 229,
"cds_start": 26,
"cds_end": null,
"cds_length": 690,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354414.2"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABL2A",
"gene_hgnc_id": 9799,
"hgvs_c": "c.26G>A",
"hgvs_p": "p.Ser9Asn",
"transcript": "ENST00000896781.1",
"protein_id": "ENSP00000566840.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 229,
"cds_start": 26,
"cds_end": null,
"cds_length": 690,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896781.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABL2A",
"gene_hgnc_id": 9799,
"hgvs_c": "c.26G>A",
"hgvs_p": "p.Ser9Asn",
"transcript": "ENST00000896786.1",
"protein_id": "ENSP00000566845.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 229,
"cds_start": 26,
"cds_end": null,
"cds_length": 690,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896786.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABL2A",
"gene_hgnc_id": 9799,
"hgvs_c": "c.26G>A",
"hgvs_p": "p.Ser9Asn",
"transcript": "ENST00000896788.1",
"protein_id": "ENSP00000566847.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 229,
"cds_start": 26,
"cds_end": null,
"cds_length": 690,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896788.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABL2A",
"gene_hgnc_id": 9799,
"hgvs_c": "c.26G>A",
"hgvs_p": "p.Ser9Asn",
"transcript": "ENST00000924794.1",
"protein_id": "ENSP00000594853.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 229,
"cds_start": 26,
"cds_end": null,
"cds_length": 690,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924794.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABL2A",
"gene_hgnc_id": 9799,
"hgvs_c": "c.26G>A",
"hgvs_p": "p.Ser9Asn",
"transcript": "ENST00000924795.1",
"protein_id": "ENSP00000594854.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 229,
"cds_start": 26,
"cds_end": null,
"cds_length": 690,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924795.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABL2A",
"gene_hgnc_id": 9799,
"hgvs_c": "c.26G>A",
"hgvs_p": "p.Ser9Asn",
"transcript": "ENST00000924797.1",
"protein_id": "ENSP00000594856.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 229,
"cds_start": 26,
"cds_end": null,
"cds_length": 690,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924797.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABL2A",
"gene_hgnc_id": 9799,
"hgvs_c": "c.26G>A",
"hgvs_p": "p.Ser9Asn",
"transcript": "ENST00000924799.1",
"protein_id": "ENSP00000594858.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 229,
"cds_start": 26,
"cds_end": null,
"cds_length": 690,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924799.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABL2A",
"gene_hgnc_id": 9799,
"hgvs_c": "c.26G>A",
"hgvs_p": "p.Ser9Asn",
"transcript": "ENST00000965206.1",
"protein_id": "ENSP00000635265.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 229,
"cds_start": 26,
"cds_end": null,
"cds_length": 690,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965206.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABL2A",
"gene_hgnc_id": 9799,
"hgvs_c": "c.26G>A",
"hgvs_p": "p.Ser9Asn",
"transcript": "NM_001354416.2",
"protein_id": "NP_001341345.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 228,
"cds_start": 26,
"cds_end": null,
"cds_length": 687,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354416.2"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABL2A",
"gene_hgnc_id": 9799,
"hgvs_c": "c.26G>A",
"hgvs_p": "p.Ser9Asn",
"transcript": "NM_007082.5",
"protein_id": "NP_009013.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 228,
"cds_start": 26,
"cds_end": null,
"cds_length": 687,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_007082.5"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABL2A",
"gene_hgnc_id": 9799,
"hgvs_c": "c.26G>A",
"hgvs_p": "p.Ser9Asn",
"transcript": "NM_013412.4",
"protein_id": "NP_038198.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 228,
"cds_start": 26,
"cds_end": null,
"cds_length": 687,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_013412.4"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABL2A",
"gene_hgnc_id": 9799,
"hgvs_c": "c.26G>A",
"hgvs_p": "p.Ser9Asn",
"transcript": "ENST00000896783.1",
"protein_id": "ENSP00000566842.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 228,
"cds_start": 26,
"cds_end": null,
"cds_length": 687,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896783.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABL2A",
"gene_hgnc_id": 9799,
"hgvs_c": "c.26G>A",
"hgvs_p": "p.Ser9Asn",
"transcript": "ENST00000924800.1",
"protein_id": "ENSP00000594859.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 228,
"cds_start": 26,
"cds_end": null,
"cds_length": 687,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924800.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABL2A",
"gene_hgnc_id": 9799,
"hgvs_c": "c.26G>A",
"hgvs_p": "p.Ser9Asn",
"transcript": "ENST00000965203.1",
"protein_id": "ENSP00000635262.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 228,
"cds_start": 26,
"cds_end": null,
"cds_length": 687,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965203.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABL2A",
"gene_hgnc_id": 9799,
"hgvs_c": "c.26G>A",
"hgvs_p": "p.Ser9Asn",
"transcript": "NM_001354417.2",
"protein_id": "NP_001341346.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 224,
"cds_start": 26,
"cds_end": null,
"cds_length": 675,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354417.2"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABL2A",
"gene_hgnc_id": 9799,
"hgvs_c": "c.26G>A",
"hgvs_p": "p.Ser9Asn",
"transcript": "NM_001354418.2",
"protein_id": "NP_001341347.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 175,
"cds_start": 26,
"cds_end": null,
"cds_length": 528,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354418.2"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABL2A",
"gene_hgnc_id": 9799,
"hgvs_c": "c.26G>A",
"hgvs_p": "p.Ser9Asn",
"transcript": "NM_001354419.2",
"protein_id": "NP_001341348.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 175,
"cds_start": 26,
"cds_end": null,
"cds_length": 528,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354419.2"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABL2A",
"gene_hgnc_id": 9799,
"hgvs_c": "c.26G>A",
"hgvs_p": "p.Ser9Asn",
"transcript": "ENST00000896784.1",
"protein_id": "ENSP00000566843.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 175,
"cds_start": 26,
"cds_end": null,
"cds_length": 528,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896784.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABL2A",
"gene_hgnc_id": 9799,
"hgvs_c": "c.26G>A",
"hgvs_p": "p.Ser9Asn",
"transcript": "ENST00000896785.1",
"protein_id": "ENSP00000566844.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 175,
"cds_start": 26,
"cds_end": null,
"cds_length": 528,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896785.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABL2A",
"gene_hgnc_id": 9799,
"hgvs_c": "c.26G>A",
"hgvs_p": "p.Ser9Asn",
"transcript": "ENST00000896792.1",
"protein_id": "ENSP00000566851.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 171,
"cds_start": 26,
"cds_end": null,
"cds_length": 516,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896792.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABL2A",
"gene_hgnc_id": 9799,
"hgvs_c": "c.26G>A",
"hgvs_p": "p.Ser9Asn",
"transcript": "ENST00000896793.1",
"protein_id": "ENSP00000566852.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 171,
"cds_start": 26,
"cds_end": null,
"cds_length": 516,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896793.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABL2A",
"gene_hgnc_id": 9799,
"hgvs_c": "c.26G>A",
"hgvs_p": "p.Ser9Asn",
"transcript": "NM_001306161.2",
"protein_id": "NP_001293090.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 165,
"cds_start": 26,
"cds_end": null,
"cds_length": 498,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001306161.2"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABL2A",
"gene_hgnc_id": 9799,
"hgvs_c": "c.26G>A",
"hgvs_p": "p.Ser9Asn",
"transcript": "NM_001354421.2",
"protein_id": "NP_001341350.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 165,
"cds_start": 26,
"cds_end": null,
"cds_length": 498,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354421.2"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABL2A",
"gene_hgnc_id": 9799,
"hgvs_c": "c.26G>A",
"hgvs_p": "p.Ser9Asn",
"transcript": "NM_001354423.2",
"protein_id": "NP_001341352.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 165,
"cds_start": 26,
"cds_end": null,
"cds_length": 498,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354423.2"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABL2A",
"gene_hgnc_id": 9799,
"hgvs_c": "c.26G>A",
"hgvs_p": "p.Ser9Asn",
"transcript": "ENST00000376439.3",
"protein_id": "ENSP00000365622.3",
"transcript_support_level": 5,
"aa_start": 9,
"aa_end": null,
"aa_length": 165,
"cds_start": 26,
"cds_end": null,
"cds_length": 498,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000376439.3"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABL2A",
"gene_hgnc_id": 9799,
"hgvs_c": "c.26G>A",
"hgvs_p": "p.Ser9Asn",
"transcript": "ENST00000896779.1",
"protein_id": "ENSP00000566838.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 165,
"cds_start": 26,
"cds_end": null,
"cds_length": 498,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896779.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABL2A",
"gene_hgnc_id": 9799,
"hgvs_c": "c.26G>A",
"hgvs_p": "p.Ser9Asn",
"transcript": "ENST00000896780.1",
"protein_id": "ENSP00000566839.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 165,
"cds_start": 26,
"cds_end": null,
"cds_length": 498,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896780.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABL2A",
"gene_hgnc_id": 9799,
"hgvs_c": "c.26G>A",
"hgvs_p": "p.Ser9Asn",
"transcript": "ENST00000924793.1",
"protein_id": "ENSP00000594852.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 165,
"cds_start": 26,
"cds_end": null,
"cds_length": 498,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924793.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABL2A",
"gene_hgnc_id": 9799,
"hgvs_c": "c.26G>A",
"hgvs_p": "p.Ser9Asn",
"transcript": "NM_001354424.2",
"protein_id": "NP_001341353.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 164,
"cds_start": 26,
"cds_end": null,
"cds_length": 495,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354424.2"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABL2A",
"gene_hgnc_id": 9799,
"hgvs_c": "c.26G>A",
"hgvs_p": "p.Ser9Asn",
"transcript": "ENST00000924796.1",
"protein_id": "ENSP00000594855.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 164,
"cds_start": 26,
"cds_end": null,
"cds_length": 495,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924796.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABL2A",
"gene_hgnc_id": 9799,
"hgvs_c": "c.26G>A",
"hgvs_p": "p.Ser9Asn",
"transcript": "ENST00000924798.1",
"protein_id": "ENSP00000594857.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 164,
"cds_start": 26,
"cds_end": null,
"cds_length": 495,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924798.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABL2A",
"gene_hgnc_id": 9799,
"hgvs_c": "c.26G>A",
"hgvs_p": "p.Ser9Asn",
"transcript": "ENST00000896789.1",
"protein_id": "ENSP00000566848.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 159,
"cds_start": 26,
"cds_end": null,
"cds_length": 480,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896789.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABL2A",
"gene_hgnc_id": 9799,
"hgvs_c": "c.26G>A",
"hgvs_p": "p.Ser9Asn",
"transcript": "ENST00000896794.1",
"protein_id": "ENSP00000566853.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 159,
"cds_start": 26,
"cds_end": null,
"cds_length": 480,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896794.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABL2A",
"gene_hgnc_id": 9799,
"hgvs_c": "c.26G>A",
"hgvs_p": "p.Ser9Asn",
"transcript": "ENST00000965209.1",
"protein_id": "ENSP00000635268.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 159,
"cds_start": 26,
"cds_end": null,
"cds_length": 480,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965209.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABL2A",
"gene_hgnc_id": 9799,
"hgvs_c": "c.26G>A",
"hgvs_p": "p.Ser9Asn",
"transcript": "ENST00000413545.5",
"protein_id": "ENSP00000388944.1",
"transcript_support_level": 4,
"aa_start": 9,
"aa_end": null,
"aa_length": 113,
"cds_start": 26,
"cds_end": null,
"cds_length": 342,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000413545.5"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABL2A",
"gene_hgnc_id": 9799,
"hgvs_c": "c.26G>A",
"hgvs_p": "p.Ser9Asn",
"transcript": "XM_011510509.2",
"protein_id": "XP_011508811.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 239,
"cds_start": 26,
"cds_end": null,
"cds_length": 720,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011510509.2"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABL2A",
"gene_hgnc_id": 9799,
"hgvs_c": "c.26G>A",
"hgvs_p": "p.Ser9Asn",
"transcript": "XM_017003205.2",
"protein_id": "XP_016858694.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 239,
"cds_start": 26,
"cds_end": null,
"cds_length": 720,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017003205.2"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABL2A",
"gene_hgnc_id": 9799,
"hgvs_c": "c.26G>A",
"hgvs_p": "p.Ser9Asn",
"transcript": "XM_017003207.2",
"protein_id": "XP_016858696.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 239,
"cds_start": 26,
"cds_end": null,
"cds_length": 720,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017003207.2"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABL2A",
"gene_hgnc_id": 9799,
"hgvs_c": "c.26G>A",
"hgvs_p": "p.Ser9Asn",
"transcript": "XM_047443039.1",
"protein_id": "XP_047298995.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 239,
"cds_start": 26,
"cds_end": null,
"cds_length": 720,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443039.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABL2A",
"gene_hgnc_id": 9799,
"hgvs_c": "c.26G>A",
"hgvs_p": "p.Ser9Asn",
"transcript": "XM_047443041.1",
"protein_id": "XP_047298997.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 239,
"cds_start": 26,
"cds_end": null,
"cds_length": 720,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443041.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABL2A",
"gene_hgnc_id": 9799,
"hgvs_c": "c.26G>A",
"hgvs_p": "p.Ser9Asn",
"transcript": "XM_024452573.2",
"protein_id": "XP_024308341.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 238,
"cds_start": 26,
"cds_end": null,
"cds_length": 717,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024452573.2"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABL2A",
"gene_hgnc_id": 9799,
"hgvs_c": "c.26G>A",
"hgvs_p": "p.Ser9Asn",
"transcript": "XM_047443043.1",
"protein_id": "XP_047298999.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 238,
"cds_start": 26,
"cds_end": null,
"cds_length": 717,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443043.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABL2A",
"gene_hgnc_id": 9799,
"hgvs_c": "c.26G>A",
"hgvs_p": "p.Ser9Asn",
"transcript": "XM_017003210.2",
"protein_id": "XP_016858699.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 235,
"cds_start": 26,
"cds_end": null,
"cds_length": 708,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017003210.2"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABL2A",
"gene_hgnc_id": 9799,
"hgvs_c": "c.26G>A",
"hgvs_p": "p.Ser9Asn",
"transcript": "XM_017003211.2",
"protein_id": "XP_016858700.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 235,
"cds_start": 26,
"cds_end": null,
"cds_length": 708,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017003211.2"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABL2A",
"gene_hgnc_id": 9799,
"hgvs_c": "c.26G>A",
"hgvs_p": "p.Ser9Asn",
"transcript": "XM_047443044.1",
"protein_id": "XP_047299000.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 235,
"cds_start": 26,
"cds_end": null,
"cds_length": 708,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443044.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABL2A",
"gene_hgnc_id": 9799,
"hgvs_c": "c.26G>A",
"hgvs_p": "p.Ser9Asn",
"transcript": "XM_017003212.2",
"protein_id": "XP_016858701.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 234,
"cds_start": 26,
"cds_end": null,
"cds_length": 705,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017003212.2"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABL2A",
"gene_hgnc_id": 9799,
"hgvs_c": "c.26G>A",
"hgvs_p": "p.Ser9Asn",
"transcript": "XM_017003215.2",
"protein_id": "XP_016858704.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 229,
"cds_start": 26,
"cds_end": null,
"cds_length": 690,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017003215.2"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABL2A",
"gene_hgnc_id": 9799,
"hgvs_c": "c.26G>A",
"hgvs_p": "p.Ser9Asn",
"transcript": "XM_024452575.2",
"protein_id": "XP_024308343.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 229,
"cds_start": 26,
"cds_end": null,
"cds_length": 690,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024452575.2"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABL2A",
"gene_hgnc_id": 9799,
"hgvs_c": "c.26G>A",
"hgvs_p": "p.Ser9Asn",
"transcript": "XM_047443045.1",
"protein_id": "XP_047299001.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 229,
"cds_start": 26,
"cds_end": null,
"cds_length": 690,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443045.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABL2A",
"gene_hgnc_id": 9799,
"hgvs_c": "c.26G>A",
"hgvs_p": "p.Ser9Asn",
"transcript": "XM_047443047.1",
"protein_id": "XP_047299003.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 229,
"cds_start": 26,
"cds_end": null,
"cds_length": 690,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443047.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABL2A",
"gene_hgnc_id": 9799,
"hgvs_c": "c.26G>A",
"hgvs_p": "p.Ser9Asn",
"transcript": "XM_047443048.1",
"protein_id": "XP_047299004.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 229,
"cds_start": 26,
"cds_end": null,
"cds_length": 690,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443048.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABL2A",
"gene_hgnc_id": 9799,
"hgvs_c": "c.26G>A",
"hgvs_p": "p.Ser9Asn",
"transcript": "XM_017003220.2",
"protein_id": "XP_016858709.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 228,
"cds_start": 26,
"cds_end": null,
"cds_length": 687,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017003220.2"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABL2A",
"gene_hgnc_id": 9799,
"hgvs_c": "c.26G>A",
"hgvs_p": "p.Ser9Asn",
"transcript": "XM_047443049.1",
"protein_id": "XP_047299005.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 228,
"cds_start": 26,
"cds_end": null,
"cds_length": 687,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443049.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABL2A",
"gene_hgnc_id": 9799,
"hgvs_c": "c.26G>A",
"hgvs_p": "p.Ser9Asn",
"transcript": "XM_047443050.1",
"protein_id": "XP_047299006.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 228,
"cds_start": 26,
"cds_end": null,
"cds_length": 687,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443050.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABL2A",
"gene_hgnc_id": 9799,
"hgvs_c": "c.26G>A",
"hgvs_p": "p.Ser9Asn",
"transcript": "XM_047443051.1",
"protein_id": "XP_047299007.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 228,
"cds_start": 26,
"cds_end": null,
"cds_length": 687,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443051.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABL2A",
"gene_hgnc_id": 9799,
"hgvs_c": "c.26G>A",
"hgvs_p": "p.Ser9Asn",
"transcript": "XM_047443052.1",
"protein_id": "XP_047299008.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 171,
"cds_start": 26,
"cds_end": null,
"cds_length": 516,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443052.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABL2A",
"gene_hgnc_id": 9799,
"hgvs_c": "c.26G>A",
"hgvs_p": "p.Ser9Asn",
"transcript": "XM_047443053.1",
"protein_id": "XP_047299009.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 165,
"cds_start": 26,
"cds_end": null,
"cds_length": 498,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443053.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABL2A",
"gene_hgnc_id": 9799,
"hgvs_c": "c.26G>A",
"hgvs_p": "p.Ser9Asn",
"transcript": "XM_047443054.1",
"protein_id": "XP_047299010.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 165,
"cds_start": 26,
"cds_end": null,
"cds_length": 498,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443054.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABL2A",
"gene_hgnc_id": 9799,
"hgvs_c": "c.26G>A",
"hgvs_p": "p.Ser9Asn",
"transcript": "XM_047443055.1",
"protein_id": "XP_047299011.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 165,
"cds_start": 26,
"cds_end": null,
"cds_length": 498,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443055.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABL2A",
"gene_hgnc_id": 9799,
"hgvs_c": "c.26G>A",
"hgvs_p": "p.Ser9Asn",
"transcript": "XM_047443056.1",
"protein_id": "XP_047299012.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 165,
"cds_start": 26,
"cds_end": null,
"cds_length": 498,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443056.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABL2A",
"gene_hgnc_id": 9799,
"hgvs_c": "c.26G>A",
"hgvs_p": "p.Ser9Asn",
"transcript": "XM_047443057.1",
"protein_id": "XP_047299013.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 164,
"cds_start": 26,
"cds_end": null,
"cds_length": 495,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443057.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABL2A",
"gene_hgnc_id": 9799,
"hgvs_c": "c.26G>A",
"hgvs_p": "p.Ser9Asn",
"transcript": "XM_047443062.1",
"protein_id": "XP_047299018.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 145,
"cds_start": 26,
"cds_end": null,
"cds_length": 438,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443062.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABL2A",
"gene_hgnc_id": 9799,
"hgvs_c": "c.26G>A",
"hgvs_p": "p.Ser9Asn",
"transcript": "XM_047443063.1",
"protein_id": "XP_047299019.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 145,
"cds_start": 26,
"cds_end": null,
"cds_length": 438,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443063.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABL2A",
"gene_hgnc_id": 9799,
"hgvs_c": "c.-253G>A",
"hgvs_p": null,
"transcript": "NM_001354425.2",
"protein_id": "NP_001341354.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 154,
"cds_start": null,
"cds_end": null,
"cds_length": 465,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354425.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABL2A",
"gene_hgnc_id": 9799,
"hgvs_c": "c.-226G>A",
"hgvs_p": null,
"transcript": "NM_001354426.2",
"protein_id": "NP_001341355.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 144,
"cds_start": null,
"cds_end": null,
"cds_length": 435,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354426.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABL2A",
"gene_hgnc_id": 9799,
"hgvs_c": "c.-171G>A",
"hgvs_p": null,
"transcript": "NM_001354427.2",
"protein_id": "NP_001341356.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 137,
"cds_start": null,
"cds_end": null,
"cds_length": 414,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354427.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABL2A",
"gene_hgnc_id": 9799,
"hgvs_c": "c.-171G>A",
"hgvs_p": null,
"transcript": "NM_001354428.2",
"protein_id": "NP_001341357.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 136,
"cds_start": null,
"cds_end": null,
"cds_length": 411,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354428.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABL2A",
"gene_hgnc_id": 9799,
"hgvs_c": "n.26G>A",
"hgvs_p": null,
"transcript": "ENST00000450954.5",
"protein_id": "ENSP00000399360.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000450954.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABL2A",
"gene_hgnc_id": 9799,
"hgvs_c": "n.26G>A",
"hgvs_p": null,
"transcript": "ENST00000452831.5",
"protein_id": "ENSP00000415510.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000452831.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABL2A",
"gene_hgnc_id": 9799,
"hgvs_c": "n.197G>A",
"hgvs_p": null,
"transcript": "ENST00000465711.5",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000465711.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABL2A",
"gene_hgnc_id": 9799,
"hgvs_c": "n.208G>A",
"hgvs_p": null,
"transcript": "ENST00000467600.5",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000467600.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABL2A",
"gene_hgnc_id": 9799,
"hgvs_c": "n.63G>A",
"hgvs_p": null,
"transcript": "ENST00000493876.2",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000493876.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABL2A",
"gene_hgnc_id": 9799,
"hgvs_c": "n.214G>A",
"hgvs_p": null,
"transcript": "NR_148879.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_148879.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABL2A",
"gene_hgnc_id": 9799,
"hgvs_c": "n.218G>A",
"hgvs_p": null,
"transcript": "NR_148880.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_148880.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABL2A",
"gene_hgnc_id": 9799,
"hgvs_c": "n.218G>A",
"hgvs_p": null,
"transcript": "NR_148881.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_148881.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABL2A",
"gene_hgnc_id": 9799,
"hgvs_c": "n.214G>A",
"hgvs_p": null,
"transcript": "NR_148882.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_148882.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RPL23AP7",
"gene_hgnc_id": null,
"hgvs_c": "n.162-2903C>T",
"hgvs_p": null,
"transcript": "ENST00000802718.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000802718.1"
}
],
"gene_symbol": "RABL2A",
"gene_hgnc_id": 9799,
"dbsnp": "rs376664304",
"frequency_reference_population": 0.0000363954,
"hom_count_reference_population": 0,
"allele_count_reference_population": 5,
"gnomad_exomes_af": 0.00000714443,
"gnomad_genomes_af": 0.0000363954,
"gnomad_exomes_ac": 10,
"gnomad_genomes_ac": 5,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.06620210409164429,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.114,
"revel_prediction": "Benign",
"alphamissense_score": 0.0788,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.55,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.068,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_001354425.2",
"gene_symbol": "RABL2A",
"hgnc_id": 9799,
"effects": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.-253G>A",
"hgvs_p": null
},
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000802718.1",
"gene_symbol": "RPL23AP7",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.162-2903C>T",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}