← 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: 20-36188463-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=36188463&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 36188463,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000338074.7",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.990G>A",
"hgvs_p": "p.Lys330Lys",
"transcript": "NM_012156.2",
"protein_id": "NP_036288.2",
"transcript_support_level": null,
"aa_start": 330,
"aa_end": null,
"aa_length": 881,
"cds_start": 990,
"cds_end": null,
"cds_length": 2646,
"cdna_start": 1161,
"cdna_end": null,
"cdna_length": 6276,
"mane_select": "ENST00000338074.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.990G>A",
"hgvs_p": "p.Lys330Lys",
"transcript": "ENST00000338074.7",
"protein_id": "ENSP00000337168.2",
"transcript_support_level": 1,
"aa_start": 330,
"aa_end": null,
"aa_length": 881,
"cds_start": 990,
"cds_end": null,
"cds_length": 2646,
"cdna_start": 1161,
"cdna_end": null,
"cdna_length": 6276,
"mane_select": "NM_012156.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.990G>A",
"hgvs_p": "p.Lys330Lys",
"transcript": "ENST00000373946.7",
"protein_id": "ENSP00000363057.4",
"transcript_support_level": 1,
"aa_start": 330,
"aa_end": null,
"aa_length": 880,
"cds_start": 990,
"cds_end": null,
"cds_length": 2643,
"cdna_start": 1215,
"cdna_end": null,
"cdna_length": 6327,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.804G>A",
"hgvs_p": "p.Lys268Lys",
"transcript": "ENST00000202028.9",
"protein_id": "ENSP00000202028.5",
"transcript_support_level": 1,
"aa_start": 268,
"aa_end": null,
"aa_length": 779,
"cds_start": 804,
"cds_end": null,
"cds_length": 2340,
"cdna_start": 977,
"cdna_end": null,
"cdna_length": 3514,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.990G>A",
"hgvs_p": "p.Lys330Lys",
"transcript": "ENST00000636016.2",
"protein_id": "ENSP00000489867.2",
"transcript_support_level": 2,
"aa_start": 330,
"aa_end": null,
"aa_length": 1595,
"cds_start": 990,
"cds_end": null,
"cds_length": 4788,
"cdna_start": 1161,
"cdna_end": null,
"cdna_length": 8418,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.990G>A",
"hgvs_p": "p.Lys330Lys",
"transcript": "NM_001433605.1",
"protein_id": "NP_001420534.1",
"transcript_support_level": null,
"aa_start": 330,
"aa_end": null,
"aa_length": 1538,
"cds_start": 990,
"cds_end": null,
"cds_length": 4617,
"cdna_start": 1161,
"cdna_end": null,
"cdna_length": 8247,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.990G>A",
"hgvs_p": "p.Lys330Lys",
"transcript": "NM_001258329.1",
"protein_id": "NP_001245258.1",
"transcript_support_level": null,
"aa_start": 330,
"aa_end": null,
"aa_length": 880,
"cds_start": 990,
"cds_end": null,
"cds_length": 2643,
"cdna_start": 1215,
"cdna_end": null,
"cdna_length": 6327,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.990G>A",
"hgvs_p": "p.Lys330Lys",
"transcript": "NM_001424402.1",
"protein_id": "NP_001411331.1",
"transcript_support_level": null,
"aa_start": 330,
"aa_end": null,
"aa_length": 880,
"cds_start": 990,
"cds_end": null,
"cds_length": 2643,
"cdna_start": 1161,
"cdna_end": null,
"cdna_length": 6273,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.990G>A",
"hgvs_p": "p.Lys330Lys",
"transcript": "ENST00000373941.5",
"protein_id": "ENSP00000363052.1",
"transcript_support_level": 5,
"aa_start": 330,
"aa_end": null,
"aa_length": 880,
"cds_start": 990,
"cds_end": null,
"cds_length": 2643,
"cdna_start": 999,
"cdna_end": null,
"cdna_length": 2652,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.990G>A",
"hgvs_p": "p.Lys330Lys",
"transcript": "NM_001424401.1",
"protein_id": "NP_001411330.1",
"transcript_support_level": null,
"aa_start": 330,
"aa_end": null,
"aa_length": 869,
"cds_start": 990,
"cds_end": null,
"cds_length": 2610,
"cdna_start": 1161,
"cdna_end": null,
"cdna_length": 6240,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.990G>A",
"hgvs_p": "p.Lys330Lys",
"transcript": "NM_001424399.1",
"protein_id": "NP_001411328.1",
"transcript_support_level": null,
"aa_start": 330,
"aa_end": null,
"aa_length": 868,
"cds_start": 990,
"cds_end": null,
"cds_length": 2607,
"cdna_start": 1161,
"cdna_end": null,
"cdna_length": 6237,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.990G>A",
"hgvs_p": "p.Lys330Lys",
"transcript": "NM_001424400.1",
"protein_id": "NP_001411329.1",
"transcript_support_level": null,
"aa_start": 330,
"aa_end": null,
"aa_length": 868,
"cds_start": 990,
"cds_end": null,
"cds_length": 2607,
"cdna_start": 1161,
"cdna_end": null,
"cdna_length": 6237,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.990G>A",
"hgvs_p": "p.Lys330Lys",
"transcript": "NM_001424398.1",
"protein_id": "NP_001411327.1",
"transcript_support_level": null,
"aa_start": 330,
"aa_end": null,
"aa_length": 867,
"cds_start": 990,
"cds_end": null,
"cds_length": 2604,
"cdna_start": 1161,
"cdna_end": null,
"cdna_length": 6234,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.990G>A",
"hgvs_p": "p.Lys330Lys",
"transcript": "NM_001424397.1",
"protein_id": "NP_001411326.1",
"transcript_support_level": null,
"aa_start": 330,
"aa_end": null,
"aa_length": 853,
"cds_start": 990,
"cds_end": null,
"cds_length": 2562,
"cdna_start": 1161,
"cdna_end": null,
"cdna_length": 6192,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.990G>A",
"hgvs_p": "p.Lys330Lys",
"transcript": "NM_001424396.1",
"protein_id": "NP_001411325.1",
"transcript_support_level": null,
"aa_start": 330,
"aa_end": null,
"aa_length": 841,
"cds_start": 990,
"cds_end": null,
"cds_length": 2526,
"cdna_start": 1161,
"cdna_end": null,
"cdna_length": 6156,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.990G>A",
"hgvs_p": "p.Lys330Lys",
"transcript": "NM_001424395.1",
"protein_id": "NP_001411324.1",
"transcript_support_level": null,
"aa_start": 330,
"aa_end": null,
"aa_length": 840,
"cds_start": 990,
"cds_end": null,
"cds_length": 2523,
"cdna_start": 1161,
"cdna_end": null,
"cdna_length": 6153,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.804G>A",
"hgvs_p": "p.Lys268Lys",
"transcript": "NM_001424394.1",
"protein_id": "NP_001411323.1",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 807,
"cds_start": 804,
"cds_end": null,
"cds_length": 2424,
"cdna_start": 970,
"cdna_end": null,
"cdna_length": 6049,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.804G>A",
"hgvs_p": "p.Lys268Lys",
"transcript": "NM_001424407.1",
"protein_id": "NP_001411336.1",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 807,
"cds_start": 804,
"cds_end": null,
"cds_length": 2424,
"cdna_start": 972,
"cdna_end": null,
"cdna_length": 6051,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.804G>A",
"hgvs_p": "p.Lys268Lys",
"transcript": "NM_001424392.1",
"protein_id": "NP_001411321.1",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 806,
"cds_start": 804,
"cds_end": null,
"cds_length": 2421,
"cdna_start": 970,
"cdna_end": null,
"cdna_length": 6046,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.804G>A",
"hgvs_p": "p.Lys268Lys",
"transcript": "NM_001424393.1",
"protein_id": "NP_001411322.1",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 806,
"cds_start": 804,
"cds_end": null,
"cds_length": 2421,
"cdna_start": 970,
"cdna_end": null,
"cdna_length": 6046,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.804G>A",
"hgvs_p": "p.Lys268Lys",
"transcript": "NM_001424406.1",
"protein_id": "NP_001411335.1",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 806,
"cds_start": 804,
"cds_end": null,
"cds_length": 2421,
"cdna_start": 972,
"cdna_end": null,
"cdna_length": 6048,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.804G>A",
"hgvs_p": "p.Lys268Lys",
"transcript": "NM_001424391.1",
"protein_id": "NP_001411320.1",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 805,
"cds_start": 804,
"cds_end": null,
"cds_length": 2418,
"cdna_start": 970,
"cdna_end": null,
"cdna_length": 6043,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.804G>A",
"hgvs_p": "p.Lys268Lys",
"transcript": "NM_001258331.2",
"protein_id": "NP_001245260.1",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 779,
"cds_start": 804,
"cds_end": null,
"cds_length": 2340,
"cdna_start": 1067,
"cdna_end": null,
"cdna_length": 6062,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.804G>A",
"hgvs_p": "p.Lys268Lys",
"transcript": "NM_001424390.1",
"protein_id": "NP_001411319.1",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 779,
"cds_start": 804,
"cds_end": null,
"cds_length": 2340,
"cdna_start": 970,
"cdna_end": null,
"cdna_length": 5965,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.804G>A",
"hgvs_p": "p.Lys268Lys",
"transcript": "NM_177996.2",
"protein_id": "NP_818932.1",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 779,
"cds_start": 804,
"cds_end": null,
"cds_length": 2340,
"cdna_start": 972,
"cdna_end": null,
"cdna_length": 5967,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.804G>A",
"hgvs_p": "p.Lys268Lys",
"transcript": "ENST00000441639.5",
"protein_id": "ENSP00000399214.1",
"transcript_support_level": 5,
"aa_start": 268,
"aa_end": null,
"aa_length": 779,
"cds_start": 804,
"cds_end": null,
"cds_length": 2340,
"cdna_start": 972,
"cdna_end": null,
"cdna_length": 5967,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.804G>A",
"hgvs_p": "p.Lys268Lys",
"transcript": "NM_001424389.1",
"protein_id": "NP_001411318.1",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 778,
"cds_start": 804,
"cds_end": null,
"cds_length": 2337,
"cdna_start": 970,
"cdna_end": null,
"cdna_length": 5962,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.699G>A",
"hgvs_p": "p.Lys233Lys",
"transcript": "ENST00000373950.6",
"protein_id": "ENSP00000363061.2",
"transcript_support_level": 5,
"aa_start": 233,
"aa_end": null,
"aa_length": 772,
"cds_start": 699,
"cds_end": null,
"cds_length": 2319,
"cdna_start": 1024,
"cdna_end": null,
"cdna_length": 3631,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.990G>A",
"hgvs_p": "p.Lys330Lys",
"transcript": "NM_001424388.1",
"protein_id": "NP_001411317.1",
"transcript_support_level": null,
"aa_start": 330,
"aa_end": null,
"aa_length": 732,
"cds_start": 990,
"cds_end": null,
"cds_length": 2199,
"cdna_start": 1161,
"cdna_end": null,
"cdna_length": 5829,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.990G>A",
"hgvs_p": "p.Lys330Lys",
"transcript": "NM_001424386.1",
"protein_id": "NP_001411315.1",
"transcript_support_level": null,
"aa_start": 330,
"aa_end": null,
"aa_length": 731,
"cds_start": 990,
"cds_end": null,
"cds_length": 2196,
"cdna_start": 1161,
"cdna_end": null,
"cdna_length": 5826,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.990G>A",
"hgvs_p": "p.Lys330Lys",
"transcript": "NM_001424387.1",
"protein_id": "NP_001411316.1",
"transcript_support_level": null,
"aa_start": 330,
"aa_end": null,
"aa_length": 731,
"cds_start": 990,
"cds_end": null,
"cds_length": 2196,
"cdna_start": 1161,
"cdna_end": null,
"cdna_length": 5826,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.990G>A",
"hgvs_p": "p.Lys330Lys",
"transcript": "NM_001424385.1",
"protein_id": "NP_001411314.1",
"transcript_support_level": null,
"aa_start": 330,
"aa_end": null,
"aa_length": 730,
"cds_start": 990,
"cds_end": null,
"cds_length": 2193,
"cdna_start": 1161,
"cdna_end": null,
"cdna_length": 5823,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.990G>A",
"hgvs_p": "p.Lys330Lys",
"transcript": "NM_001424384.1",
"protein_id": "NP_001411313.1",
"transcript_support_level": null,
"aa_start": 330,
"aa_end": null,
"aa_length": 716,
"cds_start": 990,
"cds_end": null,
"cds_length": 2151,
"cdna_start": 1161,
"cdna_end": null,
"cdna_length": 5781,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.990G>A",
"hgvs_p": "p.Lys330Lys",
"transcript": "NM_001424383.1",
"protein_id": "NP_001411312.1",
"transcript_support_level": null,
"aa_start": 330,
"aa_end": null,
"aa_length": 704,
"cds_start": 990,
"cds_end": null,
"cds_length": 2115,
"cdna_start": 1161,
"cdna_end": null,
"cdna_length": 5745,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.990G>A",
"hgvs_p": "p.Lys330Lys",
"transcript": "NM_001424382.1",
"protein_id": "NP_001411311.1",
"transcript_support_level": null,
"aa_start": 330,
"aa_end": null,
"aa_length": 703,
"cds_start": 990,
"cds_end": null,
"cds_length": 2112,
"cdna_start": 1161,
"cdna_end": null,
"cdna_length": 5742,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.897G>A",
"hgvs_p": "p.Lys299Lys",
"transcript": "NM_001258330.1",
"protein_id": "NP_001245259.1",
"transcript_support_level": null,
"aa_start": 299,
"aa_end": null,
"aa_length": 701,
"cds_start": 897,
"cds_end": null,
"cds_length": 2106,
"cdna_start": 1077,
"cdna_end": null,
"cdna_length": 5745,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.897G>A",
"hgvs_p": "p.Lys299Lys",
"transcript": "ENST00000628415.2",
"protein_id": "ENSP00000487049.2",
"transcript_support_level": 2,
"aa_start": 299,
"aa_end": null,
"aa_length": 701,
"cds_start": 897,
"cds_end": null,
"cds_length": 2106,
"cdna_start": 1075,
"cdna_end": null,
"cdna_length": 3287,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.804G>A",
"hgvs_p": "p.Lys268Lys",
"transcript": "NM_001424381.1",
"protein_id": "NP_001411310.1",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 682,
"cds_start": 804,
"cds_end": null,
"cds_length": 2049,
"cdna_start": 970,
"cdna_end": null,
"cdna_length": 5674,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.804G>A",
"hgvs_p": "p.Lys268Lys",
"transcript": "NM_001424380.1",
"protein_id": "NP_001411309.1",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 670,
"cds_start": 804,
"cds_end": null,
"cds_length": 2013,
"cdna_start": 970,
"cdna_end": null,
"cdna_length": 5638,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.804G>A",
"hgvs_p": "p.Lys268Lys",
"transcript": "NM_001424405.1",
"protein_id": "NP_001411334.1",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 670,
"cds_start": 804,
"cds_end": null,
"cds_length": 2013,
"cdna_start": 972,
"cdna_end": null,
"cdna_length": 5640,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.804G>A",
"hgvs_p": "p.Lys268Lys",
"transcript": "NM_001424378.1",
"protein_id": "NP_001411307.1",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 669,
"cds_start": 804,
"cds_end": null,
"cds_length": 2010,
"cdna_start": 970,
"cdna_end": null,
"cdna_length": 5635,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.804G>A",
"hgvs_p": "p.Lys268Lys",
"transcript": "NM_001424379.1",
"protein_id": "NP_001411308.1",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 669,
"cds_start": 804,
"cds_end": null,
"cds_length": 2010,
"cdna_start": 970,
"cdna_end": null,
"cdna_length": 5635,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.804G>A",
"hgvs_p": "p.Lys268Lys",
"transcript": "NM_001424404.1",
"protein_id": "NP_001411333.1",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 669,
"cds_start": 804,
"cds_end": null,
"cds_length": 2010,
"cdna_start": 972,
"cdna_end": null,
"cdna_length": 5637,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.804G>A",
"hgvs_p": "p.Lys268Lys",
"transcript": "NM_001424377.1",
"protein_id": "NP_001411306.1",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 668,
"cds_start": 804,
"cds_end": null,
"cds_length": 2007,
"cdna_start": 970,
"cdna_end": null,
"cdna_length": 5632,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.804G>A",
"hgvs_p": "p.Lys268Lys",
"transcript": "NM_001424376.1",
"protein_id": "NP_001411305.1",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 654,
"cds_start": 804,
"cds_end": null,
"cds_length": 1965,
"cdna_start": 970,
"cdna_end": null,
"cdna_length": 5590,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.804G>A",
"hgvs_p": "p.Lys268Lys",
"transcript": "NM_001424375.1",
"protein_id": "NP_001411304.1",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 642,
"cds_start": 804,
"cds_end": null,
"cds_length": 1929,
"cdna_start": 970,
"cdna_end": null,
"cdna_length": 5554,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.804G>A",
"hgvs_p": "p.Lys268Lys",
"transcript": "NM_001424403.1",
"protein_id": "NP_001411332.1",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 642,
"cds_start": 804,
"cds_end": null,
"cds_length": 1929,
"cdna_start": 972,
"cdna_end": null,
"cdna_length": 5556,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.804G>A",
"hgvs_p": "p.Lys268Lys",
"transcript": "NM_001424374.1",
"protein_id": "NP_001411303.1",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 641,
"cds_start": 804,
"cds_end": null,
"cds_length": 1926,
"cdna_start": 970,
"cdna_end": null,
"cdna_length": 5551,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.804G>A",
"hgvs_p": "p.Lys268Lys",
"transcript": "NM_001424373.1",
"protein_id": "NP_001411302.1",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 613,
"cds_start": 804,
"cds_end": null,
"cds_length": 1842,
"cdna_start": 970,
"cdna_end": null,
"cdna_length": 5467,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.990G>A",
"hgvs_p": "p.Lys330Lys",
"transcript": "XM_047439966.1",
"protein_id": "XP_047295922.1",
"transcript_support_level": null,
"aa_start": 330,
"aa_end": null,
"aa_length": 880,
"cds_start": 990,
"cds_end": null,
"cds_length": 2643,
"cdna_start": 1161,
"cdna_end": null,
"cdna_length": 6273,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.804G>A",
"hgvs_p": "p.Lys268Lys",
"transcript": "XM_047439972.1",
"protein_id": "XP_047295928.1",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 819,
"cds_start": 804,
"cds_end": null,
"cds_length": 2460,
"cdna_start": 972,
"cdna_end": null,
"cdna_length": 6087,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.804G>A",
"hgvs_p": "p.Lys268Lys",
"transcript": "XM_047439973.1",
"protein_id": "XP_047295929.1",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 819,
"cds_start": 804,
"cds_end": null,
"cds_length": 2460,
"cdna_start": 970,
"cdna_end": null,
"cdna_length": 6085,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.804G>A",
"hgvs_p": "p.Lys268Lys",
"transcript": "XM_047439974.1",
"protein_id": "XP_047295930.1",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 818,
"cds_start": 804,
"cds_end": null,
"cds_length": 2457,
"cdna_start": 970,
"cdna_end": null,
"cdna_length": 6082,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.804G>A",
"hgvs_p": "p.Lys268Lys",
"transcript": "XM_047439975.1",
"protein_id": "XP_047295931.1",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 818,
"cds_start": 804,
"cds_end": null,
"cds_length": 2457,
"cdna_start": 972,
"cdna_end": null,
"cdna_length": 6084,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.990G>A",
"hgvs_p": "p.Lys330Lys",
"transcript": "XM_047439976.1",
"protein_id": "XP_047295932.1",
"transcript_support_level": null,
"aa_start": 330,
"aa_end": null,
"aa_length": 812,
"cds_start": 990,
"cds_end": null,
"cds_length": 2439,
"cdna_start": 1161,
"cdna_end": null,
"cdna_length": 6069,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.804G>A",
"hgvs_p": "p.Lys268Lys",
"transcript": "XM_047439983.1",
"protein_id": "XP_047295939.1",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 805,
"cds_start": 804,
"cds_end": null,
"cds_length": 2418,
"cdna_start": 972,
"cdna_end": null,
"cdna_length": 6045,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.804G>A",
"hgvs_p": "p.Lys268Lys",
"transcript": "XM_047439984.1",
"protein_id": "XP_047295940.1",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 791,
"cds_start": 804,
"cds_end": null,
"cds_length": 2376,
"cdna_start": 970,
"cdna_end": null,
"cdna_length": 6001,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.804G>A",
"hgvs_p": "p.Lys268Lys",
"transcript": "XM_047439985.1",
"protein_id": "XP_047295941.1",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 791,
"cds_start": 804,
"cds_end": null,
"cds_length": 2376,
"cdna_start": 972,
"cdna_end": null,
"cdna_length": 6003,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.804G>A",
"hgvs_p": "p.Lys268Lys",
"transcript": "XM_047439988.1",
"protein_id": "XP_047295944.1",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 750,
"cds_start": 804,
"cds_end": null,
"cds_length": 2253,
"cdna_start": 970,
"cdna_end": null,
"cdna_length": 5878,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.804G>A",
"hgvs_p": "p.Lys268Lys",
"transcript": "XM_047439989.1",
"protein_id": "XP_047295945.1",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 749,
"cds_start": 804,
"cds_end": null,
"cds_length": 2250,
"cdna_start": 970,
"cdna_end": null,
"cdna_length": 5875,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.990G>A",
"hgvs_p": "p.Lys330Lys",
"transcript": "XM_011528685.1",
"protein_id": "XP_011526987.1",
"transcript_support_level": null,
"aa_start": 330,
"aa_end": null,
"aa_length": 744,
"cds_start": 990,
"cds_end": null,
"cds_length": 2235,
"cdna_start": 1004,
"cdna_end": null,
"cdna_length": 5708,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.804G>A",
"hgvs_p": "p.Lys268Lys",
"transcript": "XM_047440009.1",
"protein_id": "XP_047295965.1",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 612,
"cds_start": 804,
"cds_end": null,
"cds_length": 1839,
"cdna_start": 970,
"cdna_end": null,
"cdna_length": 5464,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LOC124904892",
"gene_hgnc_id": null,
"hgvs_c": "n.265-6815C>T",
"hgvs_p": null,
"transcript": "XR_007067571.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 579,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.*33G>A",
"hgvs_p": null,
"transcript": "ENST00000430276.5",
"protein_id": "ENSP00000404341.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 256,
"cds_start": -4,
"cds_end": null,
"cds_length": 771,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 896,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"dbsnp": "rs191582038",
"frequency_reference_population": 0.00022802247,
"hom_count_reference_population": 1,
"allele_count_reference_population": 368,
"gnomad_exomes_af": 0.000228484,
"gnomad_genomes_af": 0.000223587,
"gnomad_exomes_ac": 334,
"gnomad_genomes_ac": 34,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.38999998569488525,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.39,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.5,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"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": -9,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6_Moderate,BP7,BS2",
"acmg_by_gene": [
{
"score": -9,
"benign_score": 9,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6_Moderate",
"BP7",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000338074.7",
"gene_symbol": "EPB41L1",
"hgnc_id": 3378,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.990G>A",
"hgvs_p": "p.Lys330Lys"
},
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "XR_007067571.1",
"gene_symbol": "LOC124904892",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.265-6815C>T",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}