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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: 14-30889673-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=30889673&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 30889673,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001347720.2",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COCH",
"gene_hgnc_id": 2180,
"hgvs_c": "c.1535T>C",
"hgvs_p": "p.Met512Thr",
"transcript": "NM_004086.3",
"protein_id": "NP_004077.1",
"transcript_support_level": null,
"aa_start": 512,
"aa_end": null,
"aa_length": 550,
"cds_start": 1535,
"cds_end": null,
"cds_length": 1653,
"cdna_start": 1591,
"cdna_end": null,
"cdna_length": 2536,
"mane_select": "ENST00000396618.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004086.3"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COCH",
"gene_hgnc_id": 2180,
"hgvs_c": "c.1535T>C",
"hgvs_p": "p.Met512Thr",
"transcript": "ENST00000396618.9",
"protein_id": "ENSP00000379862.3",
"transcript_support_level": 1,
"aa_start": 512,
"aa_end": null,
"aa_length": 550,
"cds_start": 1535,
"cds_end": null,
"cds_length": 1653,
"cdna_start": 1591,
"cdna_end": null,
"cdna_length": 2536,
"mane_select": "NM_004086.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000396618.9"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COCH",
"gene_hgnc_id": 2180,
"hgvs_c": "c.1730T>C",
"hgvs_p": "p.Met577Thr",
"transcript": "ENST00000216361.9",
"protein_id": "ENSP00000216361.5",
"transcript_support_level": 1,
"aa_start": 577,
"aa_end": null,
"aa_length": 615,
"cds_start": 1730,
"cds_end": null,
"cds_length": 1848,
"cdna_start": 2155,
"cdna_end": null,
"cdna_length": 2582,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000216361.9"
},
{
"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": 11,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "COCH",
"gene_hgnc_id": 2180,
"hgvs_c": "c.1477+3361T>C",
"hgvs_p": null,
"transcript": "ENST00000475087.5",
"protein_id": "ENSP00000451528.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 494,
"cds_start": null,
"cds_end": null,
"cds_length": 1485,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1997,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000475087.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000258525",
"gene_hgnc_id": 58454,
"hgvs_c": "n.136A>G",
"hgvs_p": null,
"transcript": "ENST00000555108.1",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1991,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000555108.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COCH",
"gene_hgnc_id": 2180,
"hgvs_c": "c.1730T>C",
"hgvs_p": "p.Met577Thr",
"transcript": "NM_001347720.2",
"protein_id": "NP_001334649.1",
"transcript_support_level": null,
"aa_start": 577,
"aa_end": null,
"aa_length": 615,
"cds_start": 1730,
"cds_end": null,
"cds_length": 1848,
"cdna_start": 2110,
"cdna_end": null,
"cdna_length": 3055,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001347720.2"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COCH",
"gene_hgnc_id": 2180,
"hgvs_c": "c.1730T>C",
"hgvs_p": "p.Met577Thr",
"transcript": "ENST00000914779.1",
"protein_id": "ENSP00000584838.1",
"transcript_support_level": null,
"aa_start": 577,
"aa_end": null,
"aa_length": 615,
"cds_start": 1730,
"cds_end": null,
"cds_length": 1848,
"cdna_start": 1872,
"cdna_end": null,
"cdna_length": 2342,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914779.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COCH",
"gene_hgnc_id": 2180,
"hgvs_c": "c.1592T>C",
"hgvs_p": "p.Met531Thr",
"transcript": "ENST00000914778.1",
"protein_id": "ENSP00000584837.1",
"transcript_support_level": null,
"aa_start": 531,
"aa_end": null,
"aa_length": 569,
"cds_start": 1592,
"cds_end": null,
"cds_length": 1710,
"cdna_start": 2073,
"cdna_end": null,
"cdna_length": 3015,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914778.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COCH",
"gene_hgnc_id": 2180,
"hgvs_c": "c.1535T>C",
"hgvs_p": "p.Met512Thr",
"transcript": "NM_001135058.2",
"protein_id": "NP_001128530.1",
"transcript_support_level": null,
"aa_start": 512,
"aa_end": null,
"aa_length": 550,
"cds_start": 1535,
"cds_end": null,
"cds_length": 1653,
"cdna_start": 1915,
"cdna_end": null,
"cdna_length": 2860,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001135058.2"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COCH",
"gene_hgnc_id": 2180,
"hgvs_c": "c.1535T>C",
"hgvs_p": "p.Met512Thr",
"transcript": "ENST00000643575.1",
"protein_id": "ENSP00000494838.1",
"transcript_support_level": null,
"aa_start": 512,
"aa_end": null,
"aa_length": 550,
"cds_start": 1535,
"cds_end": null,
"cds_length": 1653,
"cdna_start": 1582,
"cdna_end": null,
"cdna_length": 1819,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000643575.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COCH",
"gene_hgnc_id": 2180,
"hgvs_c": "c.1535T>C",
"hgvs_p": "p.Met512Thr",
"transcript": "ENST00000644874.2",
"protein_id": "ENSP00000496360.1",
"transcript_support_level": null,
"aa_start": 512,
"aa_end": null,
"aa_length": 550,
"cds_start": 1535,
"cds_end": null,
"cds_length": 1653,
"cdna_start": 1915,
"cdna_end": null,
"cdna_length": 2860,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000644874.2"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COCH",
"gene_hgnc_id": 2180,
"hgvs_c": "c.1535T>C",
"hgvs_p": "p.Met512Thr",
"transcript": "ENST00000964788.1",
"protein_id": "ENSP00000634847.1",
"transcript_support_level": null,
"aa_start": 512,
"aa_end": null,
"aa_length": 550,
"cds_start": 1535,
"cds_end": null,
"cds_length": 1653,
"cdna_start": 1712,
"cdna_end": null,
"cdna_length": 1973,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964788.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COCH",
"gene_hgnc_id": 2180,
"hgvs_c": "c.1535T>C",
"hgvs_p": "p.Met512Thr",
"transcript": "ENST00000964789.1",
"protein_id": "ENSP00000634848.1",
"transcript_support_level": null,
"aa_start": 512,
"aa_end": null,
"aa_length": 550,
"cds_start": 1535,
"cds_end": null,
"cds_length": 1653,
"cdna_start": 1839,
"cdna_end": null,
"cdna_length": 2782,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964789.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COCH",
"gene_hgnc_id": 2180,
"hgvs_c": "c.1532T>C",
"hgvs_p": "p.Met511Thr",
"transcript": "ENST00000914780.1",
"protein_id": "ENSP00000584839.1",
"transcript_support_level": null,
"aa_start": 511,
"aa_end": null,
"aa_length": 549,
"cds_start": 1532,
"cds_end": null,
"cds_length": 1650,
"cdna_start": 1639,
"cdna_end": null,
"cdna_length": 2109,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914780.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COCH",
"gene_hgnc_id": 2180,
"hgvs_c": "c.1532T>C",
"hgvs_p": "p.Met511Thr",
"transcript": "ENST00000914781.1",
"protein_id": "ENSP00000584840.1",
"transcript_support_level": null,
"aa_start": 511,
"aa_end": null,
"aa_length": 549,
"cds_start": 1532,
"cds_end": null,
"cds_length": 1650,
"cdna_start": 1912,
"cdna_end": null,
"cdna_length": 2382,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914781.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COCH",
"gene_hgnc_id": 2180,
"hgvs_c": "c.1244T>C",
"hgvs_p": "p.Met415Thr",
"transcript": "ENST00000914782.1",
"protein_id": "ENSP00000584841.1",
"transcript_support_level": null,
"aa_start": 415,
"aa_end": null,
"aa_length": 453,
"cds_start": 1244,
"cds_end": null,
"cds_length": 1362,
"cdna_start": 1300,
"cdna_end": null,
"cdna_length": 1766,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914782.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COCH",
"gene_hgnc_id": 2180,
"hgvs_c": "c.1199T>C",
"hgvs_p": "p.Met400Thr",
"transcript": "ENST00000460581.6",
"protein_id": "ENSP00000451713.1",
"transcript_support_level": 2,
"aa_start": 400,
"aa_end": null,
"aa_length": 438,
"cds_start": 1199,
"cds_end": null,
"cds_length": 1317,
"cdna_start": 1745,
"cdna_end": null,
"cdna_length": 2688,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000460581.6"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COCH",
"gene_hgnc_id": 2180,
"hgvs_c": "c.1184T>C",
"hgvs_p": "p.Met395Thr",
"transcript": "ENST00000468826.2",
"protein_id": "ENSP00000452284.1",
"transcript_support_level": 2,
"aa_start": 395,
"aa_end": null,
"aa_length": 433,
"cds_start": 1184,
"cds_end": null,
"cds_length": 1302,
"cdna_start": 1186,
"cdna_end": null,
"cdna_length": 2129,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000468826.2"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COCH",
"gene_hgnc_id": 2180,
"hgvs_c": "c.1787T>C",
"hgvs_p": "p.Met596Thr",
"transcript": "XM_047431062.1",
"protein_id": "XP_047287018.1",
"transcript_support_level": null,
"aa_start": 596,
"aa_end": null,
"aa_length": 634,
"cds_start": 1787,
"cds_end": null,
"cds_length": 1905,
"cdna_start": 1843,
"cdna_end": null,
"cdna_length": 2666,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431062.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COCH",
"gene_hgnc_id": 2180,
"hgvs_c": "c.1730T>C",
"hgvs_p": "p.Met577Thr",
"transcript": "XM_017021071.2",
"protein_id": "XP_016876560.1",
"transcript_support_level": null,
"aa_start": 577,
"aa_end": null,
"aa_length": 615,
"cds_start": 1730,
"cds_end": null,
"cds_length": 1848,
"cdna_start": 1786,
"cdna_end": null,
"cdna_length": 2731,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017021071.2"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COCH",
"gene_hgnc_id": 2180,
"hgvs_c": "c.1730T>C",
"hgvs_p": "p.Met577Thr",
"transcript": "XM_047431063.1",
"protein_id": "XP_047287019.1",
"transcript_support_level": null,
"aa_start": 577,
"aa_end": null,
"aa_length": 615,
"cds_start": 1730,
"cds_end": null,
"cds_length": 1848,
"cdna_start": 2110,
"cdna_end": null,
"cdna_length": 2933,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431063.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COCH",
"gene_hgnc_id": 2180,
"hgvs_c": "c.1592T>C",
"hgvs_p": "p.Met531Thr",
"transcript": "XM_024449506.1",
"protein_id": "XP_024305274.1",
"transcript_support_level": null,
"aa_start": 531,
"aa_end": null,
"aa_length": 569,
"cds_start": 1592,
"cds_end": null,
"cds_length": 1710,
"cdna_start": 1648,
"cdna_end": null,
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"mane_select": null,
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{
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{
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{
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],
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"computational_score_selected": 0.8638597130775452,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.89,
"revel_prediction": "Pathogenic",
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"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.33,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.679,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
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"acmg_score": 7,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM1,PM2,PP3_Moderate,PP5",
"acmg_by_gene": [
{
"score": 7,
"benign_score": 0,
"pathogenic_score": 7,
"criteria": [
"PM1",
"PM2",
"PP3_Moderate",
"PP5"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_001347720.2",
"gene_symbol": "COCH",
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"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.1730T>C",
"hgvs_p": "p.Met577Thr"
},
{
"score": 5,
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"pathogenic_score": 5,
"criteria": [
"PM2",
"PP3_Moderate",
"PP5"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000555108.1",
"gene_symbol": "ENSG00000258525",
"hgnc_id": 58454,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.136A>G",
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},
{
"score": 5,
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"pathogenic_score": 5,
"criteria": [
"PM2",
"PP3_Moderate",
"PP5"
],
"verdict": "Uncertain_significance",
"transcript": "NR_038356.1",
"gene_symbol": "COCH-AS1",
"hgnc_id": 58454,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.136A>G",
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}
],
"clinvar_disease": "Autosomal dominant nonsyndromic hearing loss 9",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Autosomal dominant nonsyndromic hearing loss 9",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}