← 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: 3-57757741-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=57757741&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 57757741,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_001377540.1",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLMAP",
"gene_hgnc_id": 16643,
"hgvs_c": "c.90C>T",
"hgvs_p": "p.Ile30Ile",
"transcript": "NM_001377540.1",
"protein_id": "NP_001364469.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 842,
"cds_start": 90,
"cds_end": null,
"cds_length": 2529,
"cdna_start": 1228,
"cdna_end": null,
"cdna_length": 6381,
"mane_select": "ENST00000671191.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLMAP",
"gene_hgnc_id": 16643,
"hgvs_c": "c.90C>T",
"hgvs_p": "p.Ile30Ile",
"transcript": "ENST00000671191.1",
"protein_id": "ENSP00000499458.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 842,
"cds_start": 90,
"cds_end": null,
"cds_length": 2529,
"cdna_start": 1228,
"cdna_end": null,
"cdna_length": 6381,
"mane_select": "NM_001377540.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLMAP",
"gene_hgnc_id": 16643,
"hgvs_c": "c.90C>T",
"hgvs_p": "p.Ile30Ile",
"transcript": "ENST00000417128.7",
"protein_id": "ENSP00000412829.3",
"transcript_support_level": 1,
"aa_start": 30,
"aa_end": null,
"aa_length": 804,
"cds_start": 90,
"cds_end": null,
"cds_length": 2415,
"cdna_start": 1293,
"cdna_end": null,
"cdna_length": 5455,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLMAP",
"gene_hgnc_id": 16643,
"hgvs_c": "c.90C>T",
"hgvs_p": "p.Ile30Ile",
"transcript": "ENST00000449503.6",
"protein_id": "ENSP00000412945.2",
"transcript_support_level": 1,
"aa_start": 30,
"aa_end": null,
"aa_length": 790,
"cds_start": 90,
"cds_end": null,
"cds_length": 2373,
"cdna_start": 184,
"cdna_end": null,
"cdna_length": 4027,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLMAP",
"gene_hgnc_id": 16643,
"hgvs_c": "c.90C>T",
"hgvs_p": "p.Ile30Ile",
"transcript": "ENST00000438794.6",
"protein_id": "ENSP00000391886.2",
"transcript_support_level": 1,
"aa_start": 30,
"aa_end": null,
"aa_length": 778,
"cds_start": 90,
"cds_end": null,
"cds_length": 2337,
"cdna_start": 1255,
"cdna_end": null,
"cdna_length": 4801,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLMAP",
"gene_hgnc_id": 16643,
"hgvs_c": "c.90C>T",
"hgvs_p": "p.Ile30Ile",
"transcript": "ENST00000428312.6",
"protein_id": "ENSP00000398661.2",
"transcript_support_level": 1,
"aa_start": 30,
"aa_end": null,
"aa_length": 746,
"cds_start": 90,
"cds_end": null,
"cds_length": 2241,
"cdna_start": 729,
"cdna_end": null,
"cdna_length": 4685,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLMAP",
"gene_hgnc_id": 16643,
"hgvs_c": "c.-373C>T",
"hgvs_p": null,
"transcript": "XM_047448894.1",
"protein_id": "XP_047304850.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 713,
"cds_start": -4,
"cds_end": null,
"cds_length": 2142,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5625,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLMAP",
"gene_hgnc_id": 16643,
"hgvs_c": "c.90C>T",
"hgvs_p": "p.Ile30Ile",
"transcript": "NM_001377538.1",
"protein_id": "NP_001364467.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 852,
"cds_start": 90,
"cds_end": null,
"cds_length": 2559,
"cdna_start": 1228,
"cdna_end": null,
"cdna_length": 6312,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLMAP",
"gene_hgnc_id": 16643,
"hgvs_c": "c.90C>T",
"hgvs_p": "p.Ile30Ile",
"transcript": "ENST00000705628.1",
"protein_id": "ENSP00000516144.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 852,
"cds_start": 90,
"cds_end": null,
"cds_length": 2559,
"cdna_start": 1293,
"cdna_end": null,
"cdna_length": 5622,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLMAP",
"gene_hgnc_id": 16643,
"hgvs_c": "c.90C>T",
"hgvs_p": "p.Ile30Ile",
"transcript": "NM_001377539.1",
"protein_id": "NP_001364468.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 845,
"cds_start": 90,
"cds_end": null,
"cds_length": 2538,
"cdna_start": 1228,
"cdna_end": null,
"cdna_length": 6291,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLMAP",
"gene_hgnc_id": 16643,
"hgvs_c": "c.90C>T",
"hgvs_p": "p.Ile30Ile",
"transcript": "NM_001304420.3",
"protein_id": "NP_001291349.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 828,
"cds_start": 90,
"cds_end": null,
"cds_length": 2487,
"cdna_start": 1228,
"cdna_end": null,
"cdna_length": 6240,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLMAP",
"gene_hgnc_id": 16643,
"hgvs_c": "c.90C>T",
"hgvs_p": "p.Ile30Ile",
"transcript": "ENST00000659705.1",
"protein_id": "ENSP00000499241.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 828,
"cds_start": 90,
"cds_end": null,
"cds_length": 2487,
"cdna_start": 1228,
"cdna_end": null,
"cdna_length": 6240,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLMAP",
"gene_hgnc_id": 16643,
"hgvs_c": "c.90C>T",
"hgvs_p": "p.Ile30Ile",
"transcript": "NM_001377541.1",
"protein_id": "NP_001364470.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 825,
"cds_start": 90,
"cds_end": null,
"cds_length": 2478,
"cdna_start": 1228,
"cdna_end": null,
"cdna_length": 6330,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLMAP",
"gene_hgnc_id": 16643,
"hgvs_c": "c.90C>T",
"hgvs_p": "p.Ile30Ile",
"transcript": "NM_001377542.1",
"protein_id": "NP_001364471.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 825,
"cds_start": 90,
"cds_end": null,
"cds_length": 2478,
"cdna_start": 1228,
"cdna_end": null,
"cdna_length": 6330,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLMAP",
"gene_hgnc_id": 16643,
"hgvs_c": "c.90C>T",
"hgvs_p": "p.Ile30Ile",
"transcript": "NM_001377545.1",
"protein_id": "NP_001364474.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 821,
"cds_start": 90,
"cds_end": null,
"cds_length": 2466,
"cdna_start": 1228,
"cdna_end": null,
"cdna_length": 6318,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLMAP",
"gene_hgnc_id": 16643,
"hgvs_c": "c.90C>T",
"hgvs_p": "p.Ile30Ile",
"transcript": "ENST00000705652.1",
"protein_id": "ENSP00000516151.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 820,
"cds_start": 90,
"cds_end": null,
"cds_length": 2463,
"cdna_start": 1255,
"cdna_end": null,
"cdna_length": 5500,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLMAP",
"gene_hgnc_id": 16643,
"hgvs_c": "c.90C>T",
"hgvs_p": "p.Ile30Ile",
"transcript": "NM_007159.5",
"protein_id": "NP_009090.2",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 811,
"cds_start": 90,
"cds_end": null,
"cds_length": 2436,
"cdna_start": 1228,
"cdna_end": null,
"cdna_length": 6189,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLMAP",
"gene_hgnc_id": 16643,
"hgvs_c": "c.90C>T",
"hgvs_p": "p.Ile30Ile",
"transcript": "ENST00000295951.7",
"protein_id": "ENSP00000295951.3",
"transcript_support_level": 5,
"aa_start": 30,
"aa_end": null,
"aa_length": 811,
"cds_start": 90,
"cds_end": null,
"cds_length": 2436,
"cdna_start": 1307,
"cdna_end": null,
"cdna_length": 5433,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLMAP",
"gene_hgnc_id": 16643,
"hgvs_c": "c.90C>T",
"hgvs_p": "p.Ile30Ile",
"transcript": "ENST00000295952.7",
"protein_id": "ENSP00000295952.3",
"transcript_support_level": 2,
"aa_start": 30,
"aa_end": null,
"aa_length": 811,
"cds_start": 90,
"cds_end": null,
"cds_length": 2436,
"cdna_start": 295,
"cdna_end": null,
"cdna_length": 4420,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLMAP",
"gene_hgnc_id": 16643,
"hgvs_c": "c.90C>T",
"hgvs_p": "p.Ile30Ile",
"transcript": "NM_001377549.1",
"protein_id": "NP_001364478.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 808,
"cds_start": 90,
"cds_end": null,
"cds_length": 2427,
"cdna_start": 1228,
"cdna_end": null,
"cdna_length": 6279,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLMAP",
"gene_hgnc_id": 16643,
"hgvs_c": "c.90C>T",
"hgvs_p": "p.Ile30Ile",
"transcript": "NM_001377551.1",
"protein_id": "NP_001364480.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 807,
"cds_start": 90,
"cds_end": null,
"cds_length": 2424,
"cdna_start": 1228,
"cdna_end": null,
"cdna_length": 6177,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLMAP",
"gene_hgnc_id": 16643,
"hgvs_c": "c.90C>T",
"hgvs_p": "p.Ile30Ile",
"transcript": "ENST00000670768.2",
"protein_id": "ENSP00000499553.2",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 807,
"cds_start": 90,
"cds_end": null,
"cds_length": 2424,
"cdna_start": 1293,
"cdna_end": null,
"cdna_length": 6195,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLMAP",
"gene_hgnc_id": 16643,
"hgvs_c": "c.90C>T",
"hgvs_p": "p.Ile30Ile",
"transcript": "NM_001377552.1",
"protein_id": "NP_001364481.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 804,
"cds_start": 90,
"cds_end": null,
"cds_length": 2415,
"cdna_start": 1228,
"cdna_end": null,
"cdna_length": 6267,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLMAP",
"gene_hgnc_id": 16643,
"hgvs_c": "c.90C>T",
"hgvs_p": "p.Ile30Ile",
"transcript": "NM_001377555.1",
"protein_id": "NP_001364484.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 801,
"cds_start": 90,
"cds_end": null,
"cds_length": 2406,
"cdna_start": 1228,
"cdna_end": null,
"cdna_length": 6258,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLMAP",
"gene_hgnc_id": 16643,
"hgvs_c": "c.90C>T",
"hgvs_p": "p.Ile30Ile",
"transcript": "ENST00000705630.1",
"protein_id": "ENSP00000516146.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 800,
"cds_start": 90,
"cds_end": null,
"cds_length": 2403,
"cdna_start": 1255,
"cdna_end": null,
"cdna_length": 5342,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLMAP",
"gene_hgnc_id": 16643,
"hgvs_c": "c.90C>T",
"hgvs_p": "p.Ile30Ile",
"transcript": "NM_001304421.2",
"protein_id": "NP_001291350.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 790,
"cds_start": 90,
"cds_end": null,
"cds_length": 2373,
"cdna_start": 486,
"cdna_end": null,
"cdna_length": 5394,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLMAP",
"gene_hgnc_id": 16643,
"hgvs_c": "c.90C>T",
"hgvs_p": "p.Ile30Ile",
"transcript": "NM_001377557.1",
"protein_id": "NP_001364486.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 790,
"cds_start": 90,
"cds_end": null,
"cds_length": 2373,
"cdna_start": 1228,
"cdna_end": null,
"cdna_length": 6126,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLMAP",
"gene_hgnc_id": 16643,
"hgvs_c": "c.90C>T",
"hgvs_p": "p.Ile30Ile",
"transcript": "NM_001377559.1",
"protein_id": "NP_001364488.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 787,
"cds_start": 90,
"cds_end": null,
"cds_length": 2364,
"cdna_start": 1228,
"cdna_end": null,
"cdna_length": 6216,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLMAP",
"gene_hgnc_id": 16643,
"hgvs_c": "c.90C>T",
"hgvs_p": "p.Ile30Ile",
"transcript": "ENST00000705629.1",
"protein_id": "ENSP00000516145.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 787,
"cds_start": 90,
"cds_end": null,
"cds_length": 2364,
"cdna_start": 1255,
"cdna_end": null,
"cdna_length": 5389,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLMAP",
"gene_hgnc_id": 16643,
"hgvs_c": "c.90C>T",
"hgvs_p": "p.Ile30Ile",
"transcript": "NM_001377562.1",
"protein_id": "NP_001364491.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 784,
"cds_start": 90,
"cds_end": null,
"cds_length": 2355,
"cdna_start": 1228,
"cdna_end": null,
"cdna_length": 6207,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLMAP",
"gene_hgnc_id": 16643,
"hgvs_c": "c.90C>T",
"hgvs_p": "p.Ile30Ile",
"transcript": "NM_001377921.1",
"protein_id": "NP_001364850.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 784,
"cds_start": 90,
"cds_end": null,
"cds_length": 2355,
"cdna_start": 1228,
"cdna_end": null,
"cdna_length": 6207,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLMAP",
"gene_hgnc_id": 16643,
"hgvs_c": "c.90C>T",
"hgvs_p": "p.Ile30Ile",
"transcript": "ENST00000465203.6",
"protein_id": "ENSP00000419849.2",
"transcript_support_level": 5,
"aa_start": 30,
"aa_end": null,
"aa_length": 784,
"cds_start": 90,
"cds_end": null,
"cds_length": 2355,
"cdna_start": 1255,
"cdna_end": null,
"cdna_length": 6100,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLMAP",
"gene_hgnc_id": 16643,
"hgvs_c": "c.90C>T",
"hgvs_p": "p.Ile30Ile",
"transcript": "NM_001377922.1",
"protein_id": "NP_001364851.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 780,
"cds_start": 90,
"cds_end": null,
"cds_length": 2343,
"cdna_start": 1228,
"cdna_end": null,
"cdna_length": 6195,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLMAP",
"gene_hgnc_id": 16643,
"hgvs_c": "c.90C>T",
"hgvs_p": "p.Ile30Ile",
"transcript": "ENST00000705651.1",
"protein_id": "ENSP00000516150.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 770,
"cds_start": 90,
"cds_end": null,
"cds_length": 2313,
"cdna_start": 1255,
"cdna_end": null,
"cdna_length": 5338,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLMAP",
"gene_hgnc_id": 16643,
"hgvs_c": "c.90C>T",
"hgvs_p": "p.Ile30Ile",
"transcript": "NM_001377923.1",
"protein_id": "NP_001364852.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 767,
"cds_start": 90,
"cds_end": null,
"cds_length": 2304,
"cdna_start": 1228,
"cdna_end": null,
"cdna_length": 6156,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLMAP",
"gene_hgnc_id": 16643,
"hgvs_c": "c.90C>T",
"hgvs_p": "p.Ile30Ile",
"transcript": "NM_001377924.1",
"protein_id": "NP_001364853.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 763,
"cds_start": 90,
"cds_end": null,
"cds_length": 2292,
"cdna_start": 1228,
"cdna_end": null,
"cdna_length": 6144,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLMAP",
"gene_hgnc_id": 16643,
"hgvs_c": "c.90C>T",
"hgvs_p": "p.Ile30Ile",
"transcript": "ENST00000475055.2",
"protein_id": "ENSP00000499520.2",
"transcript_support_level": 3,
"aa_start": 30,
"aa_end": null,
"aa_length": 763,
"cds_start": 90,
"cds_end": null,
"cds_length": 2292,
"cdna_start": 1255,
"cdna_end": null,
"cdna_length": 6037,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLMAP",
"gene_hgnc_id": 16643,
"hgvs_c": "c.90C>T",
"hgvs_p": "p.Ile30Ile",
"transcript": "ENST00000705653.1",
"protein_id": "ENSP00000516152.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 748,
"cds_start": 90,
"cds_end": null,
"cds_length": 2247,
"cdna_start": 1255,
"cdna_end": null,
"cdna_length": 5992,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLMAP",
"gene_hgnc_id": 16643,
"hgvs_c": "c.90C>T",
"hgvs_p": "p.Ile30Ile",
"transcript": "NM_001377925.1",
"protein_id": "NP_001364854.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 746,
"cds_start": 90,
"cds_end": null,
"cds_length": 2241,
"cdna_start": 1228,
"cdna_end": null,
"cdna_length": 6093,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLMAP",
"gene_hgnc_id": 16643,
"hgvs_c": "c.90C>T",
"hgvs_p": "p.Ile30Ile",
"transcript": "ENST00000705648.1",
"protein_id": "ENSP00000516147.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 740,
"cds_start": 90,
"cds_end": null,
"cds_length": 2223,
"cdna_start": 1255,
"cdna_end": null,
"cdna_length": 4687,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLMAP",
"gene_hgnc_id": 16643,
"hgvs_c": "c.90C>T",
"hgvs_p": "p.Ile30Ile",
"transcript": "ENST00000705650.1",
"protein_id": "ENSP00000516149.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 724,
"cds_start": 90,
"cds_end": null,
"cds_length": 2175,
"cdna_start": 1255,
"cdna_end": null,
"cdna_length": 5200,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLMAP",
"gene_hgnc_id": 16643,
"hgvs_c": "c.90C>T",
"hgvs_p": "p.Ile30Ile",
"transcript": "ENST00000705649.1",
"protein_id": "ENSP00000516148.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 531,
"cds_start": 90,
"cds_end": null,
"cds_length": 1596,
"cdna_start": 1255,
"cdna_end": null,
"cdna_length": 4302,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLMAP",
"gene_hgnc_id": 16643,
"hgvs_c": "c.90C>T",
"hgvs_p": "p.Ile30Ile",
"transcript": "ENST00000383718.7",
"protein_id": "ENSP00000373224.3",
"transcript_support_level": 2,
"aa_start": 30,
"aa_end": null,
"aa_length": 506,
"cds_start": 90,
"cds_end": null,
"cds_length": 1521,
"cdna_start": 188,
"cdna_end": null,
"cdna_length": 6749,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLMAP",
"gene_hgnc_id": 16643,
"hgvs_c": "c.90C>T",
"hgvs_p": "p.Ile30Ile",
"transcript": "XM_005265456.5",
"protein_id": "XP_005265513.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 847,
"cds_start": 90,
"cds_end": null,
"cds_length": 2544,
"cdna_start": 1228,
"cdna_end": null,
"cdna_length": 6307,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLMAP",
"gene_hgnc_id": 16643,
"hgvs_c": "c.90C>T",
"hgvs_p": "p.Ile30Ile",
"transcript": "XM_047448888.1",
"protein_id": "XP_047304844.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 844,
"cds_start": 90,
"cds_end": null,
"cds_length": 2535,
"cdna_start": 1228,
"cdna_end": null,
"cdna_length": 3679,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLMAP",
"gene_hgnc_id": 16643,
"hgvs_c": "c.90C>T",
"hgvs_p": "p.Ile30Ile",
"transcript": "XM_005265459.5",
"protein_id": "XP_005265516.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 830,
"cds_start": 90,
"cds_end": null,
"cds_length": 2493,
"cdna_start": 1228,
"cdna_end": null,
"cdna_length": 6256,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLMAP",
"gene_hgnc_id": 16643,
"hgvs_c": "c.90C>T",
"hgvs_p": "p.Ile30Ile",
"transcript": "XM_005265460.5",
"protein_id": "XP_005265517.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 830,
"cds_start": 90,
"cds_end": null,
"cds_length": 2493,
"cdna_start": 1228,
"cdna_end": null,
"cdna_length": 6256,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLMAP",
"gene_hgnc_id": 16643,
"hgvs_c": "c.90C>T",
"hgvs_p": "p.Ile30Ile",
"transcript": "XM_017007147.3",
"protein_id": "XP_016862636.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 828,
"cds_start": 90,
"cds_end": null,
"cds_length": 2487,
"cdna_start": 1228,
"cdna_end": null,
"cdna_length": 6250,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLMAP",
"gene_hgnc_id": 16643,
"hgvs_c": "c.90C>T",
"hgvs_p": "p.Ile30Ile",
"transcript": "XM_005265462.5",
"protein_id": "XP_005265519.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 826,
"cds_start": 90,
"cds_end": null,
"cds_length": 2481,
"cdna_start": 1228,
"cdna_end": null,
"cdna_length": 6244,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLMAP",
"gene_hgnc_id": 16643,
"hgvs_c": "c.90C>T",
"hgvs_p": "p.Ile30Ile",
"transcript": "XM_047448889.1",
"protein_id": "XP_047304845.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 824,
"cds_start": 90,
"cds_end": null,
"cds_length": 2475,
"cdna_start": 1228,
"cdna_end": null,
"cdna_length": 6238,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLMAP",
"gene_hgnc_id": 16643,
"hgvs_c": "c.90C>T",
"hgvs_p": "p.Ile30Ile",
"transcript": "XM_005265465.5",
"protein_id": "XP_005265522.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 813,
"cds_start": 90,
"cds_end": null,
"cds_length": 2442,
"cdna_start": 1228,
"cdna_end": null,
"cdna_length": 6205,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLMAP",
"gene_hgnc_id": 16643,
"hgvs_c": "c.90C>T",
"hgvs_p": "p.Ile30Ile",
"transcript": "XM_005265467.5",
"protein_id": "XP_005265524.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 809,
"cds_start": 90,
"cds_end": null,
"cds_length": 2430,
"cdna_start": 1228,
"cdna_end": null,
"cdna_length": 6193,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLMAP",
"gene_hgnc_id": 16643,
"hgvs_c": "c.90C>T",
"hgvs_p": "p.Ile30Ile",
"transcript": "XM_011534103.3",
"protein_id": "XP_011532405.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 809,
"cds_start": 90,
"cds_end": null,
"cds_length": 2430,
"cdna_start": 1228,
"cdna_end": null,
"cdna_length": 6193,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLMAP",
"gene_hgnc_id": 16643,
"hgvs_c": "c.90C>T",
"hgvs_p": "p.Ile30Ile",
"transcript": "XM_047448890.1",
"protein_id": "XP_047304846.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 807,
"cds_start": 90,
"cds_end": null,
"cds_length": 2424,
"cdna_start": 1228,
"cdna_end": null,
"cdna_length": 6187,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLMAP",
"gene_hgnc_id": 16643,
"hgvs_c": "c.90C>T",
"hgvs_p": "p.Ile30Ile",
"transcript": "XM_005265468.5",
"protein_id": "XP_005265525.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 806,
"cds_start": 90,
"cds_end": null,
"cds_length": 2421,
"cdna_start": 1228,
"cdna_end": null,
"cdna_length": 6184,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLMAP",
"gene_hgnc_id": 16643,
"hgvs_c": "c.90C>T",
"hgvs_p": "p.Ile30Ile",
"transcript": "XM_017007155.3",
"protein_id": "XP_016862644.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 804,
"cds_start": 90,
"cds_end": null,
"cds_length": 2415,
"cdna_start": 1228,
"cdna_end": null,
"cdna_length": 6178,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLMAP",
"gene_hgnc_id": 16643,
"hgvs_c": "c.90C>T",
"hgvs_p": "p.Ile30Ile",
"transcript": "XM_005265470.5",
"protein_id": "XP_005265527.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 792,
"cds_start": 90,
"cds_end": null,
"cds_length": 2379,
"cdna_start": 1228,
"cdna_end": null,
"cdna_length": 6142,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLMAP",
"gene_hgnc_id": 16643,
"hgvs_c": "c.90C>T",
"hgvs_p": "p.Ile30Ile",
"transcript": "XM_017007159.3",
"protein_id": "XP_016862648.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 789,
"cds_start": 90,
"cds_end": null,
"cds_length": 2370,
"cdna_start": 1228,
"cdna_end": null,
"cdna_length": 6133,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLMAP",
"gene_hgnc_id": 16643,
"hgvs_c": "c.90C>T",
"hgvs_p": "p.Ile30Ile",
"transcript": "XM_047448891.1",
"protein_id": "XP_047304847.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 789,
"cds_start": 90,
"cds_end": null,
"cds_length": 2370,
"cdna_start": 1228,
"cdna_end": null,
"cdna_length": 3514,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLMAP",
"gene_hgnc_id": 16643,
"hgvs_c": "c.90C>T",
"hgvs_p": "p.Ile30Ile",
"transcript": "XM_017007161.3",
"protein_id": "XP_016862650.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 787,
"cds_start": 90,
"cds_end": null,
"cds_length": 2364,
"cdna_start": 1228,
"cdna_end": null,
"cdna_length": 6127,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLMAP",
"gene_hgnc_id": 16643,
"hgvs_c": "c.90C>T",
"hgvs_p": "p.Ile30Ile",
"transcript": "XM_006713326.4",
"protein_id": "XP_006713389.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 770,
"cds_start": 90,
"cds_end": null,
"cds_length": 2313,
"cdna_start": 1228,
"cdna_end": null,
"cdna_length": 6076,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLMAP",
"gene_hgnc_id": 16643,
"hgvs_c": "c.90C>T",
"hgvs_p": "p.Ile30Ile",
"transcript": "XM_005265472.5",
"protein_id": "XP_005265529.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 768,
"cds_start": 90,
"cds_end": null,
"cds_length": 2307,
"cdna_start": 1228,
"cdna_end": null,
"cdna_length": 6070,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLMAP",
"gene_hgnc_id": 16643,
"hgvs_c": "c.90C>T",
"hgvs_p": "p.Ile30Ile",
"transcript": "XM_047448892.1",
"protein_id": "XP_047304848.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 766,
"cds_start": 90,
"cds_end": null,
"cds_length": 2301,
"cdna_start": 1228,
"cdna_end": null,
"cdna_length": 6064,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLMAP",
"gene_hgnc_id": 16643,
"hgvs_c": "c.90C>T",
"hgvs_p": "p.Ile30Ile",
"transcript": "XM_011534105.3",
"protein_id": "XP_011532407.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 751,
"cds_start": 90,
"cds_end": null,
"cds_length": 2256,
"cdna_start": 1228,
"cdna_end": null,
"cdna_length": 6019,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLMAP",
"gene_hgnc_id": 16643,
"hgvs_c": "c.90C>T",
"hgvs_p": "p.Ile30Ile",
"transcript": "XM_047448893.1",
"protein_id": "XP_047304849.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 749,
"cds_start": 90,
"cds_end": null,
"cds_length": 2250,
"cdna_start": 1228,
"cdna_end": null,
"cdna_length": 6013,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLMAP",
"gene_hgnc_id": 16643,
"hgvs_c": "c.90C>T",
"hgvs_p": "p.Ile30Ile",
"transcript": "XM_017007169.3",
"protein_id": "XP_016862658.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 585,
"cds_start": 90,
"cds_end": null,
"cds_length": 1758,
"cdna_start": 1228,
"cdna_end": null,
"cdna_length": 3113,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLMAP",
"gene_hgnc_id": 16643,
"hgvs_c": "c.90C>T",
"hgvs_p": "p.Ile30Ile",
"transcript": "XM_047448895.1",
"protein_id": "XP_047304851.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 480,
"cds_start": 90,
"cds_end": null,
"cds_length": 1443,
"cdna_start": 1228,
"cdna_end": null,
"cdna_length": 2685,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLMAP",
"gene_hgnc_id": 16643,
"hgvs_c": "c.90C>T",
"hgvs_p": "p.Ile30Ile",
"transcript": "XM_047448896.1",
"protein_id": "XP_047304852.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 459,
"cds_start": 90,
"cds_end": null,
"cds_length": 1380,
"cdna_start": 1228,
"cdna_end": null,
"cdna_length": 2622,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLMAP",
"gene_hgnc_id": 16643,
"hgvs_c": "n.441C>T",
"hgvs_p": null,
"transcript": "ENST00000467901.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 2698,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLMAP",
"gene_hgnc_id": 16643,
"hgvs_c": "n.90C>T",
"hgvs_p": null,
"transcript": "ENST00000655012.1",
"protein_id": "ENSP00000499412.1",
"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": 1862,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLMAP",
"gene_hgnc_id": 16643,
"hgvs_c": "n.90C>T",
"hgvs_p": null,
"transcript": "ENST00000657480.1",
"protein_id": "ENSP00000499567.1",
"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": 3177,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLMAP",
"gene_hgnc_id": 16643,
"hgvs_c": "n.90C>T",
"hgvs_p": null,
"transcript": "ENST00000659926.1",
"protein_id": "ENSP00000499233.1",
"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": 5639,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLMAP",
"gene_hgnc_id": 16643,
"hgvs_c": "n.90C>T",
"hgvs_p": null,
"transcript": "ENST00000664084.1",
"protein_id": "ENSP00000499727.1",
"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": 4772,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLMAP",
"gene_hgnc_id": 16643,
"hgvs_c": "n.90C>T",
"hgvs_p": null,
"transcript": "ENST00000667800.1",
"protein_id": "ENSP00000499603.1",
"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": 5468,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLMAP",
"gene_hgnc_id": 16643,
"hgvs_c": "n.1228C>T",
"hgvs_p": null,
"transcript": "NR_165328.1",
"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": 6287,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLMAP",
"gene_hgnc_id": 16643,
"hgvs_c": "c.-373C>T",
"hgvs_p": null,
"transcript": "XM_047448894.1",
"protein_id": "XP_047304850.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 713,
"cds_start": -4,
"cds_end": null,
"cds_length": 2142,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5625,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SLMAP",
"gene_hgnc_id": 16643,
"dbsnp": "rs1450197009",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.4099999964237213,
"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": -0.41,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.367,
"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": -3,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Moderate,BP6_Moderate,BP7",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 5,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate",
"BP6_Moderate",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_001377540.1",
"gene_symbol": "SLMAP",
"hgnc_id": 16643,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "Unknown,AD",
"hgvs_c": "c.90C>T",
"hgvs_p": "p.Ile30Ile"
}
],
"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
}