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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: 9-114403334-TC-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=114403334&ref=TC&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 114403334,
"ref": "TC",
"alt": "T",
"effect": "frameshift_variant",
"transcript": "NM_015404.4",
"consequences": [
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WHRN",
"gene_hgnc_id": 16361,
"hgvs_c": "c.2423delG",
"hgvs_p": "p.Gly808fs",
"transcript": "NM_015404.4",
"protein_id": "NP_056219.3",
"transcript_support_level": null,
"aa_start": 808,
"aa_end": null,
"aa_length": 907,
"cds_start": 2423,
"cds_end": null,
"cds_length": 2724,
"cdna_start": 3095,
"cdna_end": null,
"cdna_length": 4070,
"mane_select": "ENST00000362057.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015404.4"
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WHRN",
"gene_hgnc_id": 16361,
"hgvs_c": "c.2423delG",
"hgvs_p": "p.Gly808fs",
"transcript": "ENST00000362057.4",
"protein_id": "ENSP00000354623.3",
"transcript_support_level": 1,
"aa_start": 808,
"aa_end": null,
"aa_length": 907,
"cds_start": 2423,
"cds_end": null,
"cds_length": 2724,
"cdna_start": 3095,
"cdna_end": null,
"cdna_length": 4070,
"mane_select": "NM_015404.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000362057.4"
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WHRN",
"gene_hgnc_id": 16361,
"hgvs_c": "c.1274delG",
"hgvs_p": "p.Gly425fs",
"transcript": "ENST00000265134.10",
"protein_id": "ENSP00000265134.6",
"transcript_support_level": 1,
"aa_start": 425,
"aa_end": null,
"aa_length": 524,
"cds_start": 1274,
"cds_end": null,
"cds_length": 1575,
"cdna_start": 1872,
"cdna_end": null,
"cdna_length": 2847,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000265134.10"
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WHRN",
"gene_hgnc_id": 16361,
"hgvs_c": "c.2420delG",
"hgvs_p": "p.Gly807fs",
"transcript": "NM_001173425.2",
"protein_id": "NP_001166896.1",
"transcript_support_level": null,
"aa_start": 807,
"aa_end": null,
"aa_length": 906,
"cds_start": 2420,
"cds_end": null,
"cds_length": 2721,
"cdna_start": 3092,
"cdna_end": null,
"cdna_length": 4067,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001173425.2"
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WHRN",
"gene_hgnc_id": 16361,
"hgvs_c": "c.2420delG",
"hgvs_p": "p.Gly807fs",
"transcript": "ENST00000866780.1",
"protein_id": "ENSP00000536839.1",
"transcript_support_level": null,
"aa_start": 807,
"aa_end": null,
"aa_length": 906,
"cds_start": 2420,
"cds_end": null,
"cds_length": 2721,
"cdna_start": 3095,
"cdna_end": null,
"cdna_length": 4071,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866780.1"
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WHRN",
"gene_hgnc_id": 16361,
"hgvs_c": "c.2294delG",
"hgvs_p": "p.Gly765fs",
"transcript": "ENST00000929560.1",
"protein_id": "ENSP00000599619.1",
"transcript_support_level": null,
"aa_start": 765,
"aa_end": null,
"aa_length": 864,
"cds_start": 2294,
"cds_end": null,
"cds_length": 2595,
"cdna_start": 2996,
"cdna_end": null,
"cdna_length": 3969,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929560.1"
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WHRN",
"gene_hgnc_id": 16361,
"hgvs_c": "c.2213delG",
"hgvs_p": "p.Gly738fs",
"transcript": "ENST00000674036.9",
"protein_id": "ENSP00000501297.5",
"transcript_support_level": null,
"aa_start": 738,
"aa_end": null,
"aa_length": 837,
"cds_start": 2213,
"cds_end": null,
"cds_length": 2514,
"cdna_start": 2213,
"cdna_end": null,
"cdna_length": 3190,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000674036.9"
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WHRN",
"gene_hgnc_id": 16361,
"hgvs_c": "c.2210delG",
"hgvs_p": "p.Gly737fs",
"transcript": "ENST00000929558.1",
"protein_id": "ENSP00000599617.1",
"transcript_support_level": null,
"aa_start": 737,
"aa_end": null,
"aa_length": 836,
"cds_start": 2210,
"cds_end": null,
"cds_length": 2511,
"cdna_start": 2934,
"cdna_end": null,
"cdna_length": 3910,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929558.1"
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WHRN",
"gene_hgnc_id": 16361,
"hgvs_c": "c.2087delG",
"hgvs_p": "p.Gly696fs",
"transcript": "ENST00000866781.1",
"protein_id": "ENSP00000536840.1",
"transcript_support_level": null,
"aa_start": 696,
"aa_end": null,
"aa_length": 795,
"cds_start": 2087,
"cds_end": null,
"cds_length": 2388,
"cdna_start": 2505,
"cdna_end": null,
"cdna_length": 3480,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866781.1"
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WHRN",
"gene_hgnc_id": 16361,
"hgvs_c": "c.1760delG",
"hgvs_p": "p.Gly587fs",
"transcript": "ENST00000929559.1",
"protein_id": "ENSP00000599618.1",
"transcript_support_level": null,
"aa_start": 587,
"aa_end": null,
"aa_length": 686,
"cds_start": 1760,
"cds_end": null,
"cds_length": 2061,
"cdna_start": 2466,
"cdna_end": null,
"cdna_length": 3439,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929559.1"
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WHRN",
"gene_hgnc_id": 16361,
"hgvs_c": "c.1757delG",
"hgvs_p": "p.Gly586fs",
"transcript": "ENST00000929561.1",
"protein_id": "ENSP00000599620.1",
"transcript_support_level": null,
"aa_start": 586,
"aa_end": null,
"aa_length": 685,
"cds_start": 1757,
"cds_end": null,
"cds_length": 2058,
"cdna_start": 1927,
"cdna_end": null,
"cdna_length": 2897,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929561.1"
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WHRN",
"gene_hgnc_id": 16361,
"hgvs_c": "c.1370delG",
"hgvs_p": "p.Gly457fs",
"transcript": "NM_001346890.1",
"protein_id": "NP_001333819.1",
"transcript_support_level": null,
"aa_start": 457,
"aa_end": null,
"aa_length": 556,
"cds_start": 1370,
"cds_end": null,
"cds_length": 1671,
"cdna_start": 2401,
"cdna_end": null,
"cdna_length": 3375,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001346890.1"
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WHRN",
"gene_hgnc_id": 16361,
"hgvs_c": "c.1274delG",
"hgvs_p": "p.Gly425fs",
"transcript": "NM_001083885.3",
"protein_id": "NP_001077354.2",
"transcript_support_level": null,
"aa_start": 425,
"aa_end": null,
"aa_length": 524,
"cds_start": 1274,
"cds_end": null,
"cds_length": 1575,
"cdna_start": 1914,
"cdna_end": null,
"cdna_length": 2889,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001083885.3"
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WHRN",
"gene_hgnc_id": 16361,
"hgvs_c": "c.767delG",
"hgvs_p": "p.Gly256fs",
"transcript": "ENST00000699485.1",
"protein_id": "ENSP00000514396.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 355,
"cds_start": 767,
"cds_end": null,
"cds_length": 1068,
"cdna_start": 767,
"cdna_end": null,
"cdna_length": 1742,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000699485.1"
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WHRN",
"gene_hgnc_id": 16361,
"hgvs_c": "c.2456delG",
"hgvs_p": "p.Gly819fs",
"transcript": "XM_011518485.2",
"protein_id": "XP_011516787.1",
"transcript_support_level": null,
"aa_start": 819,
"aa_end": null,
"aa_length": 918,
"cds_start": 2456,
"cds_end": null,
"cds_length": 2757,
"cdna_start": 2985,
"cdna_end": null,
"cdna_length": 3960,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011518485.2"
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WHRN",
"gene_hgnc_id": 16361,
"hgvs_c": "c.2453delG",
"hgvs_p": "p.Gly818fs",
"transcript": "XM_011518486.3",
"protein_id": "XP_011516788.1",
"transcript_support_level": null,
"aa_start": 818,
"aa_end": null,
"aa_length": 917,
"cds_start": 2453,
"cds_end": null,
"cds_length": 2754,
"cdna_start": 3125,
"cdna_end": null,
"cdna_length": 4100,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011518486.3"
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WHRN",
"gene_hgnc_id": 16361,
"hgvs_c": "c.2423delG",
"hgvs_p": "p.Gly808fs",
"transcript": "XM_047423161.1",
"protein_id": "XP_047279117.1",
"transcript_support_level": null,
"aa_start": 808,
"aa_end": null,
"aa_length": 907,
"cds_start": 2423,
"cds_end": null,
"cds_length": 2724,
"cdna_start": 2952,
"cdna_end": null,
"cdna_length": 3927,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047423161.1"
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WHRN",
"gene_hgnc_id": 16361,
"hgvs_c": "c.2420delG",
"hgvs_p": "p.Gly807fs",
"transcript": "XM_047423163.1",
"protein_id": "XP_047279119.1",
"transcript_support_level": null,
"aa_start": 807,
"aa_end": null,
"aa_length": 906,
"cds_start": 2420,
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"cdna_start": 2949,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047423163.1"
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WHRN",
"gene_hgnc_id": 16361,
"hgvs_c": "c.2330delG",
"hgvs_p": "p.Gly777fs",
"transcript": "XM_011518487.3",
"protein_id": "XP_011516789.1",
"transcript_support_level": null,
"aa_start": 777,
"aa_end": null,
"aa_length": 876,
"cds_start": 2330,
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"cdna_start": 3002,
"cdna_end": null,
"cdna_length": 3977,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011518487.3"
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WHRN",
"gene_hgnc_id": 16361,
"hgvs_c": "c.2297delG",
"hgvs_p": "p.Gly766fs",
"transcript": "XM_047423164.1",
"protein_id": "XP_047279120.1",
"transcript_support_level": null,
"aa_start": 766,
"aa_end": null,
"aa_length": 865,
"cds_start": 2297,
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"cdna_start": 2826,
"cdna_end": null,
"cdna_length": 3801,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047423164.1"
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WHRN",
"gene_hgnc_id": 16361,
"hgvs_c": "c.2294delG",
"hgvs_p": "p.Gly765fs",
"transcript": "XM_047423165.1",
"protein_id": "XP_047279121.1",
"transcript_support_level": null,
"aa_start": 765,
"aa_end": null,
"aa_length": 864,
"cds_start": 2294,
"cds_end": null,
"cds_length": 2595,
"cdna_start": 2823,
"cdna_end": null,
"cdna_length": 3798,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047423165.1"
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WHRN",
"gene_hgnc_id": 16361,
"hgvs_c": "c.2213delG",
"hgvs_p": "p.Gly738fs",
"transcript": "XM_047423166.1",
"protein_id": "XP_047279122.1",
"transcript_support_level": null,
"aa_start": 738,
"aa_end": null,
"aa_length": 837,
"cds_start": 2213,
"cds_end": null,
"cds_length": 2514,
"cdna_start": 2742,
"cdna_end": null,
"cdna_length": 3717,
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"mane_plus": null,
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{
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{
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],
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},
{
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],
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},
{
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"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
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"gene_symbol": "WHRN",
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"transcript": "ENST00000674048.1",
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"biotype": "retained_intron",
"feature": "ENST00000674048.1"
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],
"gene_symbol": "WHRN",
"gene_hgnc_id": 16361,
"dbsnp": "rs869320674",
"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,
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"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"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": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 5.453,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
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"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 11,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5",
"acmg_by_gene": [
{
"score": 11,
"benign_score": 0,
"pathogenic_score": 11,
"criteria": [
"PVS1",
"PM2",
"PP5"
],
"verdict": "Pathogenic",
"transcript": "NM_015404.4",
"gene_symbol": "WHRN",
"hgnc_id": 16361,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AR,Unknown",
"hgvs_c": "c.2423delG",
"hgvs_p": "p.Gly808fs"
}
],
"clinvar_disease": "Autosomal recessive nonsyndromic hearing loss 31",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Autosomal recessive nonsyndromic hearing loss 31",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}