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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: 6-75908548-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=75908548&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 75908548,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000369977.8",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO6",
"gene_hgnc_id": 7605,
"hgvs_c": "c.3333G>A",
"hgvs_p": "p.Val1111Val",
"transcript": "NM_004999.4",
"protein_id": "NP_004990.3",
"transcript_support_level": null,
"aa_start": 1111,
"aa_end": null,
"aa_length": 1285,
"cds_start": 3333,
"cds_end": null,
"cds_length": 3858,
"cdna_start": 3565,
"cdna_end": null,
"cdna_length": 8615,
"mane_select": "ENST00000369977.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO6",
"gene_hgnc_id": 7605,
"hgvs_c": "c.3333G>A",
"hgvs_p": "p.Val1111Val",
"transcript": "ENST00000369977.8",
"protein_id": "ENSP00000358994.3",
"transcript_support_level": 1,
"aa_start": 1111,
"aa_end": null,
"aa_length": 1285,
"cds_start": 3333,
"cds_end": null,
"cds_length": 3858,
"cdna_start": 3565,
"cdna_end": null,
"cdna_length": 8615,
"mane_select": "NM_004999.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO6",
"gene_hgnc_id": 7605,
"hgvs_c": "c.3264G>A",
"hgvs_p": "p.Val1088Val",
"transcript": "ENST00000615563.4",
"protein_id": "ENSP00000478013.1",
"transcript_support_level": 1,
"aa_start": 1088,
"aa_end": null,
"aa_length": 1262,
"cds_start": 3264,
"cds_end": null,
"cds_length": 3789,
"cdna_start": 3296,
"cdna_end": null,
"cdna_length": 4026,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO6",
"gene_hgnc_id": 7605,
"hgvs_c": "c.3360G>A",
"hgvs_p": "p.Val1120Val",
"transcript": "NM_001368865.1",
"protein_id": "NP_001355794.1",
"transcript_support_level": null,
"aa_start": 1120,
"aa_end": null,
"aa_length": 1294,
"cds_start": 3360,
"cds_end": null,
"cds_length": 3885,
"cdna_start": 3592,
"cdna_end": null,
"cdna_length": 8642,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO6",
"gene_hgnc_id": 7605,
"hgvs_c": "c.3360G>A",
"hgvs_p": "p.Val1120Val",
"transcript": "ENST00000664640.1",
"protein_id": "ENSP00000499278.1",
"transcript_support_level": null,
"aa_start": 1120,
"aa_end": null,
"aa_length": 1294,
"cds_start": 3360,
"cds_end": null,
"cds_length": 3885,
"cdna_start": 3592,
"cdna_end": null,
"cdna_length": 8642,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO6",
"gene_hgnc_id": 7605,
"hgvs_c": "c.3360G>A",
"hgvs_p": "p.Val1120Val",
"transcript": "NM_001368866.1",
"protein_id": "NP_001355795.1",
"transcript_support_level": null,
"aa_start": 1120,
"aa_end": null,
"aa_length": 1285,
"cds_start": 3360,
"cds_end": null,
"cds_length": 3858,
"cdna_start": 3592,
"cdna_end": null,
"cdna_length": 8615,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO6",
"gene_hgnc_id": 7605,
"hgvs_c": "c.3360G>A",
"hgvs_p": "p.Val1120Val",
"transcript": "ENST00000672093.1",
"protein_id": "ENSP00000500710.1",
"transcript_support_level": null,
"aa_start": 1120,
"aa_end": null,
"aa_length": 1285,
"cds_start": 3360,
"cds_end": null,
"cds_length": 3858,
"cdna_start": 3360,
"cdna_end": null,
"cdna_length": 3858,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO6",
"gene_hgnc_id": 7605,
"hgvs_c": "c.3321G>A",
"hgvs_p": "p.Val1107Val",
"transcript": "NM_001368137.1",
"protein_id": "NP_001355066.1",
"transcript_support_level": null,
"aa_start": 1107,
"aa_end": null,
"aa_length": 1272,
"cds_start": 3321,
"cds_end": null,
"cds_length": 3819,
"cdna_start": 3553,
"cdna_end": null,
"cdna_length": 8576,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO6",
"gene_hgnc_id": 7605,
"hgvs_c": "c.3264G>A",
"hgvs_p": "p.Val1088Val",
"transcript": "NM_001300899.2",
"protein_id": "NP_001287828.1",
"transcript_support_level": null,
"aa_start": 1088,
"aa_end": null,
"aa_length": 1262,
"cds_start": 3264,
"cds_end": null,
"cds_length": 3789,
"cdna_start": 3496,
"cdna_end": null,
"cdna_length": 8546,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO6",
"gene_hgnc_id": 7605,
"hgvs_c": "c.3264G>A",
"hgvs_p": "p.Val1088Val",
"transcript": "ENST00000369985.9",
"protein_id": "ENSP00000359002.3",
"transcript_support_level": 5,
"aa_start": 1088,
"aa_end": null,
"aa_length": 1262,
"cds_start": 3264,
"cds_end": null,
"cds_length": 3789,
"cdna_start": 3496,
"cdna_end": null,
"cdna_length": 8546,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO6",
"gene_hgnc_id": 7605,
"hgvs_c": "c.3249G>A",
"hgvs_p": "p.Val1083Val",
"transcript": "NM_001368138.1",
"protein_id": "NP_001355067.1",
"transcript_support_level": null,
"aa_start": 1083,
"aa_end": null,
"aa_length": 1257,
"cds_start": 3249,
"cds_end": null,
"cds_length": 3774,
"cdna_start": 3481,
"cdna_end": null,
"cdna_length": 8531,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO6",
"gene_hgnc_id": 7605,
"hgvs_c": "c.3264G>A",
"hgvs_p": "p.Val1088Val",
"transcript": "NM_001368136.1",
"protein_id": "NP_001355065.1",
"transcript_support_level": null,
"aa_start": 1088,
"aa_end": null,
"aa_length": 1253,
"cds_start": 3264,
"cds_end": null,
"cds_length": 3762,
"cdna_start": 3496,
"cdna_end": null,
"cdna_length": 8519,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO6",
"gene_hgnc_id": 7605,
"hgvs_c": "c.3264G>A",
"hgvs_p": "p.Val1088Val",
"transcript": "ENST00000369975.6",
"protein_id": "ENSP00000358992.1",
"transcript_support_level": 5,
"aa_start": 1088,
"aa_end": null,
"aa_length": 1253,
"cds_start": 3264,
"cds_end": null,
"cds_length": 3762,
"cdna_start": 3500,
"cdna_end": null,
"cdna_length": 5598,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO6",
"gene_hgnc_id": 7605,
"hgvs_c": "c.510G>A",
"hgvs_p": "p.Val170Val",
"transcript": "ENST00000430435.1",
"protein_id": "ENSP00000399406.1",
"transcript_support_level": 3,
"aa_start": 170,
"aa_end": null,
"aa_length": 173,
"cds_start": 510,
"cds_end": null,
"cds_length": 522,
"cdna_start": 510,
"cdna_end": null,
"cdna_length": 522,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO6",
"gene_hgnc_id": 7605,
"hgvs_c": "c.3360G>A",
"hgvs_p": "p.Val1120Val",
"transcript": "XM_024446447.2",
"protein_id": "XP_024302215.1",
"transcript_support_level": null,
"aa_start": 1120,
"aa_end": null,
"aa_length": 1294,
"cds_start": 3360,
"cds_end": null,
"cds_length": 3885,
"cdna_start": 3492,
"cdna_end": null,
"cdna_length": 8542,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO6",
"gene_hgnc_id": 7605,
"hgvs_c": "c.3321G>A",
"hgvs_p": "p.Val1107Val",
"transcript": "XM_005248721.5",
"protein_id": "XP_005248778.1",
"transcript_support_level": null,
"aa_start": 1107,
"aa_end": null,
"aa_length": 1281,
"cds_start": 3321,
"cds_end": null,
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"cdna_start": 3553,
"cdna_end": null,
"cdna_length": 8603,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO6",
"gene_hgnc_id": 7605,
"hgvs_c": "c.3333G>A",
"hgvs_p": "p.Val1111Val",
"transcript": "XM_005248722.5",
"protein_id": "XP_005248779.1",
"transcript_support_level": null,
"aa_start": 1111,
"aa_end": null,
"aa_length": 1276,
"cds_start": 3333,
"cds_end": null,
"cds_length": 3831,
"cdna_start": 3565,
"cdna_end": null,
"cdna_length": 8588,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO6",
"gene_hgnc_id": 7605,
"hgvs_c": "c.3294G>A",
"hgvs_p": "p.Val1098Val",
"transcript": "XM_005248724.5",
"protein_id": "XP_005248781.1",
"transcript_support_level": null,
"aa_start": 1098,
"aa_end": null,
"aa_length": 1272,
"cds_start": 3294,
"cds_end": null,
"cds_length": 3819,
"cdna_start": 3526,
"cdna_end": null,
"cdna_length": 8576,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO6",
"gene_hgnc_id": 7605,
"hgvs_c": "c.3294G>A",
"hgvs_p": "p.Val1098Val",
"transcript": "XM_017010899.3",
"protein_id": "XP_016866388.1",
"transcript_support_level": null,
"aa_start": 1098,
"aa_end": null,
"aa_length": 1263,
"cds_start": 3294,
"cds_end": null,
"cds_length": 3792,
"cdna_start": 3526,
"cdna_end": null,
"cdna_length": 8549,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO6",
"gene_hgnc_id": 7605,
"hgvs_c": "c.3264G>A",
"hgvs_p": "p.Val1088Val",
"transcript": "XM_047418836.1",
"protein_id": "XP_047274792.1",
"transcript_support_level": null,
"aa_start": 1088,
"aa_end": null,
"aa_length": 1253,
"cds_start": 3264,
"cds_end": null,
"cds_length": 3762,
"cdna_start": 3396,
"cdna_end": null,
"cdna_length": 8419,
"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": 31,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO6",
"gene_hgnc_id": 7605,
"hgvs_c": "n.*1371G>A",
"hgvs_p": null,
"transcript": "ENST00000671923.1",
"protein_id": "ENSP00000500835.1",
"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": 5302,
"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": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO6",
"gene_hgnc_id": 7605,
"hgvs_c": "n.1526G>A",
"hgvs_p": null,
"transcript": "ENST00000672162.1",
"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": 2792,
"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": 31,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO6",
"gene_hgnc_id": 7605,
"hgvs_c": "n.3589G>A",
"hgvs_p": null,
"transcript": "NR_160538.1",
"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": 8612,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO6",
"gene_hgnc_id": 7605,
"hgvs_c": "n.*1371G>A",
"hgvs_p": null,
"transcript": "ENST00000671923.1",
"protein_id": "ENSP00000500835.1",
"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": 5302,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "MYO6",
"gene_hgnc_id": 7605,
"dbsnp": "rs114970874",
"frequency_reference_population": 0.00082990795,
"hom_count_reference_population": 13,
"allele_count_reference_population": 1339,
"gnomad_exomes_af": 0.000430418,
"gnomad_genomes_af": 0.00466915,
"gnomad_exomes_ac": 629,
"gnomad_genomes_ac": 710,
"gnomad_exomes_homalt": 5,
"gnomad_genomes_homalt": 8,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.5400000214576721,
"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": -0.54,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.162,
"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": -14,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6,BP7,BS1,BS2",
"acmg_by_gene": [
{
"score": -14,
"benign_score": 14,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6",
"BP7",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000369977.8",
"gene_symbol": "MYO6",
"hgnc_id": 7605,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.3333G>A",
"hgvs_p": "p.Val1111Val"
}
],
"clinvar_disease": "Autosomal dominant nonsyndromic hearing loss 22,Autosomal recessive nonsyndromic hearing loss 37,not provided,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 B:4",
"phenotype_combined": "not specified|Autosomal recessive nonsyndromic hearing loss 37|Autosomal dominant nonsyndromic hearing loss 22|not provided",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}