← 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: 15-27983395-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=27983395&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 27983395,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000354638.8",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OCA2",
"gene_hgnc_id": 8101,
"hgvs_c": "c.1453G>A",
"hgvs_p": "p.Gly485Arg",
"transcript": "NM_000275.3",
"protein_id": "NP_000266.2",
"transcript_support_level": null,
"aa_start": 485,
"aa_end": null,
"aa_length": 838,
"cds_start": 1453,
"cds_end": null,
"cds_length": 2517,
"cdna_start": 1566,
"cdna_end": null,
"cdna_length": 3143,
"mane_select": "ENST00000354638.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OCA2",
"gene_hgnc_id": 8101,
"hgvs_c": "c.1453G>A",
"hgvs_p": "p.Gly485Arg",
"transcript": "ENST00000354638.8",
"protein_id": "ENSP00000346659.3",
"transcript_support_level": 1,
"aa_start": 485,
"aa_end": null,
"aa_length": 838,
"cds_start": 1453,
"cds_end": null,
"cds_length": 2517,
"cdna_start": 1566,
"cdna_end": null,
"cdna_length": 3143,
"mane_select": "NM_000275.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OCA2",
"gene_hgnc_id": 8101,
"hgvs_c": "c.1381G>A",
"hgvs_p": "p.Gly461Arg",
"transcript": "ENST00000353809.9",
"protein_id": "ENSP00000261276.8",
"transcript_support_level": 1,
"aa_start": 461,
"aa_end": null,
"aa_length": 814,
"cds_start": 1381,
"cds_end": null,
"cds_length": 2445,
"cdna_start": 1491,
"cdna_end": null,
"cdna_length": 3068,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OCA2",
"gene_hgnc_id": 8101,
"hgvs_c": "c.1381G>A",
"hgvs_p": "p.Gly461Arg",
"transcript": "NM_001300984.2",
"protein_id": "NP_001287913.1",
"transcript_support_level": null,
"aa_start": 461,
"aa_end": null,
"aa_length": 814,
"cds_start": 1381,
"cds_end": null,
"cds_length": 2445,
"cdna_start": 1494,
"cdna_end": null,
"cdna_length": 3071,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OCA2",
"gene_hgnc_id": 8101,
"hgvs_c": "c.1477G>A",
"hgvs_p": "p.Gly493Arg",
"transcript": "XM_017022255.2",
"protein_id": "XP_016877744.1",
"transcript_support_level": null,
"aa_start": 493,
"aa_end": null,
"aa_length": 860,
"cds_start": 1477,
"cds_end": null,
"cds_length": 2583,
"cdna_start": 2819,
"cdna_end": null,
"cdna_length": 4438,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OCA2",
"gene_hgnc_id": 8101,
"hgvs_c": "c.1453G>A",
"hgvs_p": "p.Gly485Arg",
"transcript": "XM_011521640.3",
"protein_id": "XP_011519942.1",
"transcript_support_level": null,
"aa_start": 485,
"aa_end": null,
"aa_length": 852,
"cds_start": 1453,
"cds_end": null,
"cds_length": 2559,
"cdna_start": 1566,
"cdna_end": null,
"cdna_length": 3185,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OCA2",
"gene_hgnc_id": 8101,
"hgvs_c": "c.1477G>A",
"hgvs_p": "p.Gly493Arg",
"transcript": "XM_017022256.2",
"protein_id": "XP_016877745.1",
"transcript_support_level": null,
"aa_start": 493,
"aa_end": null,
"aa_length": 846,
"cds_start": 1477,
"cds_end": null,
"cds_length": 2541,
"cdna_start": 3771,
"cdna_end": null,
"cdna_length": 5348,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OCA2",
"gene_hgnc_id": 8101,
"hgvs_c": "c.1405G>A",
"hgvs_p": "p.Gly469Arg",
"transcript": "XM_017022257.2",
"protein_id": "XP_016877746.1",
"transcript_support_level": null,
"aa_start": 469,
"aa_end": null,
"aa_length": 836,
"cds_start": 1405,
"cds_end": null,
"cds_length": 2511,
"cdna_start": 3700,
"cdna_end": null,
"cdna_length": 5319,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OCA2",
"gene_hgnc_id": 8101,
"hgvs_c": "c.1477G>A",
"hgvs_p": "p.Gly493Arg",
"transcript": "XM_017022258.2",
"protein_id": "XP_016877747.1",
"transcript_support_level": null,
"aa_start": 493,
"aa_end": null,
"aa_length": 835,
"cds_start": 1477,
"cds_end": null,
"cds_length": 2508,
"cdna_start": 3774,
"cdna_end": null,
"cdna_length": 5074,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OCA2",
"gene_hgnc_id": 8101,
"hgvs_c": "c.1381G>A",
"hgvs_p": "p.Gly461Arg",
"transcript": "XM_047432605.1",
"protein_id": "XP_047288561.1",
"transcript_support_level": null,
"aa_start": 461,
"aa_end": null,
"aa_length": 828,
"cds_start": 1381,
"cds_end": null,
"cds_length": 2487,
"cdna_start": 1494,
"cdna_end": null,
"cdna_length": 3113,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OCA2",
"gene_hgnc_id": 8101,
"hgvs_c": "c.1453G>A",
"hgvs_p": "p.Gly485Arg",
"transcript": "XM_047432606.1",
"protein_id": "XP_047288562.1",
"transcript_support_level": null,
"aa_start": 485,
"aa_end": null,
"aa_length": 827,
"cds_start": 1453,
"cds_end": null,
"cds_length": 2484,
"cdna_start": 1566,
"cdna_end": null,
"cdna_length": 2866,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OCA2",
"gene_hgnc_id": 8101,
"hgvs_c": "c.1405G>A",
"hgvs_p": "p.Gly469Arg",
"transcript": "XM_017022259.2",
"protein_id": "XP_016877748.1",
"transcript_support_level": null,
"aa_start": 469,
"aa_end": null,
"aa_length": 822,
"cds_start": 1405,
"cds_end": null,
"cds_length": 2469,
"cdna_start": 3698,
"cdna_end": null,
"cdna_length": 5275,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OCA2",
"gene_hgnc_id": 8101,
"hgvs_c": "c.1339G>A",
"hgvs_p": "p.Gly447Arg",
"transcript": "XM_017022260.2",
"protein_id": "XP_016877749.1",
"transcript_support_level": null,
"aa_start": 447,
"aa_end": null,
"aa_length": 814,
"cds_start": 1339,
"cds_end": null,
"cds_length": 2445,
"cdna_start": 3635,
"cdna_end": null,
"cdna_length": 5254,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OCA2",
"gene_hgnc_id": 8101,
"hgvs_c": "c.1405G>A",
"hgvs_p": "p.Gly469Arg",
"transcript": "XM_047432607.1",
"protein_id": "XP_047288563.1",
"transcript_support_level": null,
"aa_start": 469,
"aa_end": null,
"aa_length": 811,
"cds_start": 1405,
"cds_end": null,
"cds_length": 2436,
"cdna_start": 3701,
"cdna_end": null,
"cdna_length": 5001,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OCA2",
"gene_hgnc_id": 8101,
"hgvs_c": "c.1315G>A",
"hgvs_p": "p.Gly439Arg",
"transcript": "XM_047432608.1",
"protein_id": "XP_047288564.1",
"transcript_support_level": null,
"aa_start": 439,
"aa_end": null,
"aa_length": 806,
"cds_start": 1315,
"cds_end": null,
"cds_length": 2421,
"cdna_start": 1428,
"cdna_end": null,
"cdna_length": 3047,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OCA2",
"gene_hgnc_id": 8101,
"hgvs_c": "c.1381G>A",
"hgvs_p": "p.Gly461Arg",
"transcript": "XM_047432609.1",
"protein_id": "XP_047288565.1",
"transcript_support_level": null,
"aa_start": 461,
"aa_end": null,
"aa_length": 803,
"cds_start": 1381,
"cds_end": null,
"cds_length": 2412,
"cdna_start": 1494,
"cdna_end": null,
"cdna_length": 2794,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OCA2",
"gene_hgnc_id": 8101,
"hgvs_c": "c.1339G>A",
"hgvs_p": "p.Gly447Arg",
"transcript": "XM_047432610.1",
"protein_id": "XP_047288566.1",
"transcript_support_level": null,
"aa_start": 447,
"aa_end": null,
"aa_length": 800,
"cds_start": 1339,
"cds_end": null,
"cds_length": 2403,
"cdna_start": 3632,
"cdna_end": null,
"cdna_length": 5209,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OCA2",
"gene_hgnc_id": 8101,
"hgvs_c": "c.1282G>A",
"hgvs_p": "p.Gly428Arg",
"transcript": "XM_017022261.2",
"protein_id": "XP_016877750.1",
"transcript_support_level": null,
"aa_start": 428,
"aa_end": null,
"aa_length": 795,
"cds_start": 1282,
"cds_end": null,
"cds_length": 2388,
"cdna_start": 2059,
"cdna_end": null,
"cdna_length": 3678,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OCA2",
"gene_hgnc_id": 8101,
"hgvs_c": "c.1477G>A",
"hgvs_p": "p.Gly493Arg",
"transcript": "XM_017022262.2",
"protein_id": "XP_016877751.1",
"transcript_support_level": null,
"aa_start": 493,
"aa_end": null,
"aa_length": 793,
"cds_start": 1477,
"cds_end": null,
"cds_length": 2382,
"cdna_start": 3775,
"cdna_end": null,
"cdna_length": 5164,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OCA2",
"gene_hgnc_id": 8101,
"hgvs_c": "c.1315G>A",
"hgvs_p": "p.Gly439Arg",
"transcript": "XM_047432611.1",
"protein_id": "XP_047288567.1",
"transcript_support_level": null,
"aa_start": 439,
"aa_end": null,
"aa_length": 792,
"cds_start": 1315,
"cds_end": null,
"cds_length": 2379,
"cdna_start": 1428,
"cdna_end": null,
"cdna_length": 3005,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OCA2",
"gene_hgnc_id": 8101,
"hgvs_c": "c.1477G>A",
"hgvs_p": "p.Gly493Arg",
"transcript": "XM_017022263.2",
"protein_id": "XP_016877752.1",
"transcript_support_level": null,
"aa_start": 493,
"aa_end": null,
"aa_length": 791,
"cds_start": 1477,
"cds_end": null,
"cds_length": 2376,
"cdna_start": 3772,
"cdna_end": null,
"cdna_length": 5184,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OCA2",
"gene_hgnc_id": 8101,
"hgvs_c": "c.1453G>A",
"hgvs_p": "p.Gly485Arg",
"transcript": "XM_047432612.1",
"protein_id": "XP_047288568.1",
"transcript_support_level": null,
"aa_start": 485,
"aa_end": null,
"aa_length": 785,
"cds_start": 1453,
"cds_end": null,
"cds_length": 2358,
"cdna_start": 1566,
"cdna_end": null,
"cdna_length": 2955,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OCA2",
"gene_hgnc_id": 8101,
"hgvs_c": "c.1453G>A",
"hgvs_p": "p.Gly485Arg",
"transcript": "XM_047432613.1",
"protein_id": "XP_047288569.1",
"transcript_support_level": null,
"aa_start": 485,
"aa_end": null,
"aa_length": 783,
"cds_start": 1453,
"cds_end": null,
"cds_length": 2352,
"cdna_start": 1566,
"cdna_end": null,
"cdna_length": 2978,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OCA2",
"gene_hgnc_id": 8101,
"hgvs_c": "c.1477G>A",
"hgvs_p": "p.Gly493Arg",
"transcript": "XM_017022264.2",
"protein_id": "XP_016877753.1",
"transcript_support_level": null,
"aa_start": 493,
"aa_end": null,
"aa_length": 780,
"cds_start": 1477,
"cds_end": null,
"cds_length": 2343,
"cdna_start": 3776,
"cdna_end": null,
"cdna_length": 4911,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OCA2",
"gene_hgnc_id": 8101,
"hgvs_c": "c.1453G>A",
"hgvs_p": "p.Gly485Arg",
"transcript": "XM_047432614.1",
"protein_id": "XP_047288570.1",
"transcript_support_level": null,
"aa_start": 485,
"aa_end": null,
"aa_length": 772,
"cds_start": 1453,
"cds_end": null,
"cds_length": 2319,
"cdna_start": 1566,
"cdna_end": null,
"cdna_length": 2701,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OCA2",
"gene_hgnc_id": 8101,
"hgvs_c": "c.1405G>A",
"hgvs_p": "p.Gly469Arg",
"transcript": "XM_047432615.1",
"protein_id": "XP_047288571.1",
"transcript_support_level": null,
"aa_start": 469,
"aa_end": null,
"aa_length": 769,
"cds_start": 1405,
"cds_end": null,
"cds_length": 2310,
"cdna_start": 3701,
"cdna_end": null,
"cdna_length": 5090,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OCA2",
"gene_hgnc_id": 8101,
"hgvs_c": "c.1405G>A",
"hgvs_p": "p.Gly469Arg",
"transcript": "XM_047432616.1",
"protein_id": "XP_047288572.1",
"transcript_support_level": null,
"aa_start": 469,
"aa_end": null,
"aa_length": 767,
"cds_start": 1405,
"cds_end": null,
"cds_length": 2304,
"cdna_start": 3699,
"cdna_end": null,
"cdna_length": 5111,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OCA2",
"gene_hgnc_id": 8101,
"hgvs_c": "c.1381G>A",
"hgvs_p": "p.Gly461Arg",
"transcript": "XM_047432617.1",
"protein_id": "XP_047288573.1",
"transcript_support_level": null,
"aa_start": 461,
"aa_end": null,
"aa_length": 759,
"cds_start": 1381,
"cds_end": null,
"cds_length": 2280,
"cdna_start": 1494,
"cdna_end": null,
"cdna_length": 2906,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OCA2",
"gene_hgnc_id": 8101,
"hgvs_c": "c.1381G>A",
"hgvs_p": "p.Gly461Arg",
"transcript": "XM_047432618.1",
"protein_id": "XP_047288574.1",
"transcript_support_level": null,
"aa_start": 461,
"aa_end": null,
"aa_length": 748,
"cds_start": 1381,
"cds_end": null,
"cds_length": 2247,
"cdna_start": 1494,
"cdna_end": null,
"cdna_length": 2629,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OCA2",
"gene_hgnc_id": 8101,
"hgvs_c": "c.1315G>A",
"hgvs_p": "p.Gly439Arg",
"transcript": "XM_047432619.1",
"protein_id": "XP_047288575.1",
"transcript_support_level": null,
"aa_start": 439,
"aa_end": null,
"aa_length": 726,
"cds_start": 1315,
"cds_end": null,
"cds_length": 2181,
"cdna_start": 1428,
"cdna_end": null,
"cdna_length": 2563,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OCA2",
"gene_hgnc_id": 8101,
"hgvs_c": "c.1477G>A",
"hgvs_p": "p.Gly493Arg",
"transcript": "XM_017022265.2",
"protein_id": "XP_016877754.1",
"transcript_support_level": null,
"aa_start": 493,
"aa_end": null,
"aa_length": 676,
"cds_start": 1477,
"cds_end": null,
"cds_length": 2031,
"cdna_start": 3777,
"cdna_end": null,
"cdna_length": 5104,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OCA2",
"gene_hgnc_id": 8101,
"hgvs_c": "n.3778G>A",
"hgvs_p": null,
"transcript": "XR_001751294.2",
"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": 4186,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "OCA2",
"gene_hgnc_id": 8101,
"dbsnp": "rs747214535",
"frequency_reference_population": 0.0000024782164,
"hom_count_reference_population": 0,
"allele_count_reference_population": 4,
"gnomad_exomes_af": 0.00000205214,
"gnomad_genomes_af": 0.00000657151,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9851953387260437,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.963,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9965,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.57,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.191,
"phylop100way_prediction": "Uncertain_significance",
"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": 11,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PM1,PM2,PM5,PP3_Strong,PP5",
"acmg_by_gene": [
{
"score": 11,
"benign_score": 0,
"pathogenic_score": 11,
"criteria": [
"PM1",
"PM2",
"PM5",
"PP3_Strong",
"PP5"
],
"verdict": "Pathogenic",
"transcript": "ENST00000354638.8",
"gene_symbol": "OCA2",
"hgnc_id": 8101,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1453G>A",
"hgvs_p": "p.Gly485Arg"
}
],
"clinvar_disease": " BLUE/NONBLUE EYES,Oculocutaneous albinism,SKIN/HAIR/EYE PIGMENTATION 1,Tyrosinase-positive oculocutaneous albinism,not provided",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "LP:3 US:1",
"phenotype_combined": "not provided|Tyrosinase-positive oculocutaneous albinism;SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES|Oculocutaneous albinism",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}