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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: 20-62260095-CCT-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=62260095&ref=CCT&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 62260095,
"ref": "CCT",
"alt": "C",
"effect": "frameshift_variant",
"transcript": "ENST00000313733.9",
"consequences": [
{
"aa_ref": "SQ",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL2",
"gene_hgnc_id": 15761,
"hgvs_c": "c.156_157delTC",
"hgvs_p": "p.Gln53fs",
"transcript": "NM_144498.4",
"protein_id": "NP_653081.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 480,
"cds_start": 156,
"cds_end": null,
"cds_length": 1443,
"cdna_start": 361,
"cdna_end": null,
"cdna_length": 3944,
"mane_select": "ENST00000313733.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "SQ",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL2",
"gene_hgnc_id": 15761,
"hgvs_c": "c.156_157delTC",
"hgvs_p": "p.Gln53fs",
"transcript": "ENST00000313733.9",
"protein_id": "ENSP00000316649.3",
"transcript_support_level": 1,
"aa_start": 52,
"aa_end": null,
"aa_length": 480,
"cds_start": 156,
"cds_end": null,
"cds_length": 1443,
"cdna_start": 361,
"cdna_end": null,
"cdna_length": 3944,
"mane_select": "NM_144498.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "SQ",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL2",
"gene_hgnc_id": 15761,
"hgvs_c": "c.120_121delTC",
"hgvs_p": "p.Gln41fs",
"transcript": "ENST00000358053.3",
"protein_id": "ENSP00000350755.2",
"transcript_support_level": 1,
"aa_start": 40,
"aa_end": null,
"aa_length": 468,
"cds_start": 120,
"cds_end": null,
"cds_length": 1407,
"cdna_start": 325,
"cdna_end": null,
"cdna_length": 3936,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "SQ",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL2",
"gene_hgnc_id": 15761,
"hgvs_c": "c.156_157delTC",
"hgvs_p": "p.Gln53fs",
"transcript": "ENST00000643412.1",
"protein_id": "ENSP00000494549.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 480,
"cds_start": 156,
"cds_end": null,
"cds_length": 1443,
"cdna_start": 432,
"cdna_end": null,
"cdna_length": 2683,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "SQ",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL2",
"gene_hgnc_id": 15761,
"hgvs_c": "c.156_157delTC",
"hgvs_p": "p.Gln53fs",
"transcript": "ENST00000643981.1",
"protein_id": "ENSP00000495379.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 480,
"cds_start": 156,
"cds_end": null,
"cds_length": 1443,
"cdna_start": 372,
"cdna_end": null,
"cdna_length": 2642,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "SQ",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL2",
"gene_hgnc_id": 15761,
"hgvs_c": "c.120_121delTC",
"hgvs_p": "p.Gln41fs",
"transcript": "NM_014835.5",
"protein_id": "NP_055650.1",
"transcript_support_level": null,
"aa_start": 40,
"aa_end": null,
"aa_length": 468,
"cds_start": 120,
"cds_end": null,
"cds_length": 1407,
"cdna_start": 325,
"cdna_end": null,
"cdna_length": 3908,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "SQ",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL2",
"gene_hgnc_id": 15761,
"hgvs_c": "c.60_61delTC",
"hgvs_p": "p.Gln21fs",
"transcript": "ENST00000644702.1",
"protein_id": "ENSP00000494264.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 448,
"cds_start": 60,
"cds_end": null,
"cds_length": 1347,
"cdna_start": 127,
"cdna_end": null,
"cdna_length": 2383,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "SQ",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL2",
"gene_hgnc_id": 15761,
"hgvs_c": "c.12_13delTC",
"hgvs_p": "p.Gln5fs",
"transcript": "ENST00000642714.1",
"protein_id": "ENSP00000493570.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 438,
"cds_start": 12,
"cds_end": null,
"cds_length": 1317,
"cdna_start": 13,
"cdna_end": null,
"cdna_length": 2378,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "SQ",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL2",
"gene_hgnc_id": 15761,
"hgvs_c": "c.156_157delTC",
"hgvs_p": "p.Gln53fs",
"transcript": "ENST00000644189.1",
"protein_id": "ENSP00000495359.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 291,
"cds_start": 156,
"cds_end": null,
"cds_length": 876,
"cdna_start": 401,
"cdna_end": null,
"cdna_length": 1329,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "SQ",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL2",
"gene_hgnc_id": 15761,
"hgvs_c": "c.156_157delTC",
"hgvs_p": "p.Gln53fs",
"transcript": "ENST00000622332.4",
"protein_id": "ENSP00000478158.1",
"transcript_support_level": 3,
"aa_start": 52,
"aa_end": null,
"aa_length": 179,
"cds_start": 156,
"cds_end": null,
"cds_length": 540,
"cdna_start": 370,
"cdna_end": null,
"cdna_length": 754,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "SQ",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL2",
"gene_hgnc_id": 15761,
"hgvs_c": "c.156_157delTC",
"hgvs_p": "p.Gln53fs",
"transcript": "ENST00000642957.1",
"protein_id": "ENSP00000495661.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 162,
"cds_start": 156,
"cds_end": null,
"cds_length": 491,
"cdna_start": 702,
"cdna_end": null,
"cdna_length": 1037,
"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": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL2",
"gene_hgnc_id": 15761,
"hgvs_c": "n.156_157delTC",
"hgvs_p": null,
"transcript": "ENST00000642516.1",
"protein_id": "ENSP00000494756.1",
"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": 3427,
"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": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL2",
"gene_hgnc_id": 15761,
"hgvs_c": "n.156_157delTC",
"hgvs_p": null,
"transcript": "ENST00000642932.1",
"protein_id": "ENSP00000495393.1",
"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": 3343,
"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": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL2",
"gene_hgnc_id": 15761,
"hgvs_c": "n.156_157delTC",
"hgvs_p": null,
"transcript": "ENST00000643174.1",
"protein_id": "ENSP00000493721.1",
"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": 4030,
"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": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL2",
"gene_hgnc_id": 15761,
"hgvs_c": "n.156_157delTC",
"hgvs_p": null,
"transcript": "ENST00000644535.1",
"protein_id": "ENSP00000495676.1",
"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": 3879,
"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": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL2",
"gene_hgnc_id": 15761,
"hgvs_c": "n.156_157delTC",
"hgvs_p": null,
"transcript": "ENST00000645426.1",
"protein_id": "ENSP00000495812.1",
"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": 4670,
"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": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL2",
"gene_hgnc_id": 15761,
"hgvs_c": "n.156_157delTC",
"hgvs_p": null,
"transcript": "ENST00000646968.1",
"protein_id": "ENSP00000495611.1",
"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": 2358,
"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": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL2",
"gene_hgnc_id": 15761,
"hgvs_c": "c.-211_-210delTC",
"hgvs_p": null,
"transcript": "NM_001363878.2",
"protein_id": "NP_001350807.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 388,
"cds_start": -4,
"cds_end": null,
"cds_length": 1167,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4034,
"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": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL2",
"gene_hgnc_id": 15761,
"hgvs_c": "c.-121_-120delTC",
"hgvs_p": null,
"transcript": "ENST00000439951.6",
"protein_id": "ENSP00000397602.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 370,
"cds_start": -4,
"cds_end": null,
"cds_length": 1113,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3886,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "OSBPL2",
"gene_hgnc_id": 15761,
"hgvs_c": "c.-19-3517_-19-3516delTC",
"hgvs_p": null,
"transcript": "ENST00000644775.1",
"protein_id": "ENSP00000495955.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 413,
"cds_start": -4,
"cds_end": null,
"cds_length": 1242,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2449,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "OSBPL2",
"gene_hgnc_id": 15761,
"hgvs_c": "c.-33-3578_-33-3577delTC",
"hgvs_p": null,
"transcript": "ENST00000645442.1",
"protein_id": "ENSP00000494921.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 388,
"cds_start": -4,
"cds_end": null,
"cds_length": 1167,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2306,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "OSBPL2",
"gene_hgnc_id": 15761,
"hgvs_c": "c.-184-3517_-184-3516delTC",
"hgvs_p": null,
"transcript": "NM_001278649.3",
"protein_id": "NP_001265578.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 370,
"cds_start": -4,
"cds_end": null,
"cds_length": 1113,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3765,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "OSBPL2",
"gene_hgnc_id": 15761,
"hgvs_c": "c.-184-3517_-184-3516delTC",
"hgvs_p": null,
"transcript": "ENST00000645520.1",
"protein_id": "ENSP00000495166.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 370,
"cds_start": -4,
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"cdna_start": null,
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"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "OSBPL2",
"gene_hgnc_id": 15761,
"hgvs_c": "n.149+7_149+8delTC",
"hgvs_p": null,
"transcript": "ENST00000646834.1",
"protein_id": "ENSP00000494692.1",
"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,
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"cdna_length": 2334,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL2",
"gene_hgnc_id": 15761,
"hgvs_c": "c.*85_*86delCT",
"hgvs_p": null,
"transcript": "ENST00000618509.4",
"protein_id": "ENSP00000479702.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 21,
"cds_start": -4,
"cds_end": null,
"cds_length": 68,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 582,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "OSBPL2",
"gene_hgnc_id": 15761,
"dbsnp": "rs786205880",
"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": 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": -0.147,
"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": 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": "ENST00000313733.9",
"gene_symbol": "OSBPL2",
"hgnc_id": 15761,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.156_157delTC",
"hgvs_p": "p.Gln53fs"
}
],
"clinvar_disease": "Autosomal dominant nonsyndromic hearing loss 67",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Autosomal dominant nonsyndromic hearing loss 67",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}