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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: 4-6301085-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=6301085&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 6301085,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "NM_006005.3",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WFS1",
"gene_hgnc_id": 12762,
"hgvs_c": "c.1290G>A",
"hgvs_p": "p.Ser430Ser",
"transcript": "NM_006005.3",
"protein_id": "NP_005996.2",
"transcript_support_level": null,
"aa_start": 430,
"aa_end": null,
"aa_length": 890,
"cds_start": 1290,
"cds_end": null,
"cds_length": 2673,
"cdna_start": 1460,
"cdna_end": null,
"cdna_length": 3640,
"mane_select": "ENST00000226760.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006005.3"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WFS1",
"gene_hgnc_id": 12762,
"hgvs_c": "c.1290G>A",
"hgvs_p": "p.Ser430Ser",
"transcript": "ENST00000226760.5",
"protein_id": "ENSP00000226760.1",
"transcript_support_level": 1,
"aa_start": 430,
"aa_end": null,
"aa_length": 890,
"cds_start": 1290,
"cds_end": null,
"cds_length": 2673,
"cdna_start": 1460,
"cdna_end": null,
"cdna_length": 3640,
"mane_select": "NM_006005.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000226760.5"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WFS1",
"gene_hgnc_id": 12762,
"hgvs_c": "c.1290G>A",
"hgvs_p": "p.Ser430Ser",
"transcript": "ENST00000503569.5",
"protein_id": "ENSP00000423337.1",
"transcript_support_level": 1,
"aa_start": 430,
"aa_end": null,
"aa_length": 890,
"cds_start": 1290,
"cds_end": null,
"cds_length": 2673,
"cdna_start": 1457,
"cdna_end": null,
"cdna_length": 3255,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000503569.5"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WFS1",
"gene_hgnc_id": 12762,
"hgvs_c": "c.949G>A",
"hgvs_p": "p.Gly317Arg",
"transcript": "ENST00000673642.1",
"protein_id": "ENSP00000501242.1",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 427,
"cds_start": 949,
"cds_end": null,
"cds_length": 1284,
"cdna_start": 949,
"cdna_end": null,
"cdna_length": 2013,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000673642.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WFS1",
"gene_hgnc_id": 12762,
"hgvs_c": "c.1383G>A",
"hgvs_p": "p.Ser461Ser",
"transcript": "ENST00000852027.1",
"protein_id": "ENSP00000522086.1",
"transcript_support_level": null,
"aa_start": 461,
"aa_end": null,
"aa_length": 921,
"cds_start": 1383,
"cds_end": null,
"cds_length": 2766,
"cdna_start": 1546,
"cdna_end": null,
"cdna_length": 3726,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852027.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WFS1",
"gene_hgnc_id": 12762,
"hgvs_c": "c.1326G>A",
"hgvs_p": "p.Ser442Ser",
"transcript": "ENST00000673991.1",
"protein_id": "ENSP00000501033.1",
"transcript_support_level": null,
"aa_start": 442,
"aa_end": null,
"aa_length": 902,
"cds_start": 1326,
"cds_end": null,
"cds_length": 2709,
"cdna_start": 1493,
"cdna_end": null,
"cdna_length": 3633,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000673991.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WFS1",
"gene_hgnc_id": 12762,
"hgvs_c": "c.1326G>A",
"hgvs_p": "p.Ser442Ser",
"transcript": "ENST00000682275.1",
"protein_id": "ENSP00000507852.1",
"transcript_support_level": null,
"aa_start": 442,
"aa_end": null,
"aa_length": 902,
"cds_start": 1326,
"cds_end": null,
"cds_length": 2709,
"cdna_start": 1496,
"cdna_end": null,
"cdna_length": 3662,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000682275.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WFS1",
"gene_hgnc_id": 12762,
"hgvs_c": "c.1326G>A",
"hgvs_p": "p.Ser442Ser",
"transcript": "ENST00000852029.1",
"protein_id": "ENSP00000522088.1",
"transcript_support_level": null,
"aa_start": 442,
"aa_end": null,
"aa_length": 902,
"cds_start": 1326,
"cds_end": null,
"cds_length": 2709,
"cdna_start": 1403,
"cdna_end": null,
"cdna_length": 3583,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852029.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"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": "WFS1",
"gene_hgnc_id": 12762,
"hgvs_c": "c.1326G>A",
"hgvs_p": "p.Ser442Ser",
"transcript": "ENST00000956586.1",
"protein_id": "ENSP00000626645.1",
"transcript_support_level": null,
"aa_start": 442,
"aa_end": null,
"aa_length": 902,
"cds_start": 1326,
"cds_end": null,
"cds_length": 2709,
"cdna_start": 1385,
"cdna_end": null,
"cdna_length": 3565,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956586.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WFS1",
"gene_hgnc_id": 12762,
"hgvs_c": "c.1290G>A",
"hgvs_p": "p.Ser430Ser",
"transcript": "NM_001145853.1",
"protein_id": "NP_001139325.1",
"transcript_support_level": null,
"aa_start": 430,
"aa_end": null,
"aa_length": 890,
"cds_start": 1290,
"cds_end": null,
"cds_length": 2673,
"cdna_start": 1456,
"cdna_end": null,
"cdna_length": 3636,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001145853.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"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": "WFS1",
"gene_hgnc_id": 12762,
"hgvs_c": "c.1290G>A",
"hgvs_p": "p.Ser430Ser",
"transcript": "ENST00000684087.1",
"protein_id": "ENSP00000506978.1",
"transcript_support_level": null,
"aa_start": 430,
"aa_end": null,
"aa_length": 890,
"cds_start": 1290,
"cds_end": null,
"cds_length": 2673,
"cdna_start": 1437,
"cdna_end": null,
"cdna_length": 3602,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000684087.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WFS1",
"gene_hgnc_id": 12762,
"hgvs_c": "c.1290G>A",
"hgvs_p": "p.Ser430Ser",
"transcript": "ENST00000852028.1",
"protein_id": "ENSP00000522087.1",
"transcript_support_level": null,
"aa_start": 430,
"aa_end": null,
"aa_length": 890,
"cds_start": 1290,
"cds_end": null,
"cds_length": 2673,
"cdna_start": 1385,
"cdna_end": null,
"cdna_length": 3565,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852028.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WFS1",
"gene_hgnc_id": 12762,
"hgvs_c": "c.1290G>A",
"hgvs_p": "p.Ser430Ser",
"transcript": "ENST00000938521.1",
"protein_id": "ENSP00000608580.1",
"transcript_support_level": null,
"aa_start": 430,
"aa_end": null,
"aa_length": 890,
"cds_start": 1290,
"cds_end": null,
"cds_length": 2673,
"cdna_start": 1378,
"cdna_end": null,
"cdna_length": 3173,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938521.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WFS1",
"gene_hgnc_id": 12762,
"hgvs_c": "c.1290G>A",
"hgvs_p": "p.Ser430Ser",
"transcript": "ENST00000956579.1",
"protein_id": "ENSP00000626638.1",
"transcript_support_level": null,
"aa_start": 430,
"aa_end": null,
"aa_length": 890,
"cds_start": 1290,
"cds_end": null,
"cds_length": 2673,
"cdna_start": 1551,
"cdna_end": null,
"cdna_length": 3729,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956579.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WFS1",
"gene_hgnc_id": 12762,
"hgvs_c": "c.1290G>A",
"hgvs_p": "p.Ser430Ser",
"transcript": "ENST00000956583.1",
"protein_id": "ENSP00000626642.1",
"transcript_support_level": null,
"aa_start": 430,
"aa_end": null,
"aa_length": 890,
"cds_start": 1290,
"cds_end": null,
"cds_length": 2673,
"cdna_start": 1330,
"cdna_end": null,
"cdna_length": 3510,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956583.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WFS1",
"gene_hgnc_id": 12762,
"hgvs_c": "c.1290G>A",
"hgvs_p": "p.Ser430Ser",
"transcript": "ENST00000956584.1",
"protein_id": "ENSP00000626643.1",
"transcript_support_level": null,
"aa_start": 430,
"aa_end": null,
"aa_length": 890,
"cds_start": 1290,
"cds_end": null,
"cds_length": 2673,
"cdna_start": 1402,
"cdna_end": null,
"cdna_length": 3581,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956584.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WFS1",
"gene_hgnc_id": 12762,
"hgvs_c": "c.1290G>A",
"hgvs_p": "p.Ser430Ser",
"transcript": "ENST00000956585.1",
"protein_id": "ENSP00000626644.1",
"transcript_support_level": null,
"aa_start": 430,
"aa_end": null,
"aa_length": 890,
"cds_start": 1290,
"cds_end": null,
"cds_length": 2673,
"cdna_start": 1414,
"cdna_end": null,
"cdna_length": 3593,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956585.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WFS1",
"gene_hgnc_id": 12762,
"hgvs_c": "c.1281G>A",
"hgvs_p": "p.Ser427Ser",
"transcript": "ENST00000938520.1",
"protein_id": "ENSP00000608579.1",
"transcript_support_level": null,
"aa_start": 427,
"aa_end": null,
"aa_length": 887,
"cds_start": 1281,
"cds_end": null,
"cds_length": 2664,
"cdna_start": 1462,
"cdna_end": null,
"cdna_length": 3257,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938520.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"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": "WFS1",
"gene_hgnc_id": 12762,
"hgvs_c": "c.1245G>A",
"hgvs_p": "p.Ser415Ser",
"transcript": "ENST00000956581.1",
"protein_id": "ENSP00000626640.1",
"transcript_support_level": null,
"aa_start": 415,
"aa_end": null,
"aa_length": 875,
"cds_start": 1245,
"cds_end": null,
"cds_length": 2628,
"cdna_start": 1383,
"cdna_end": null,
"cdna_length": 3553,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956581.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WFS1",
"gene_hgnc_id": 12762,
"hgvs_c": "c.1209G>A",
"hgvs_p": "p.Ser403Ser",
"transcript": "ENST00000852030.1",
"protein_id": "ENSP00000522089.1",
"transcript_support_level": null,
"aa_start": 403,
"aa_end": null,
"aa_length": 863,
"cds_start": 1209,
"cds_end": null,
"cds_length": 2592,
"cdna_start": 1356,
"cdna_end": null,
"cdna_length": 3154,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852030.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"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": "WFS1",
"gene_hgnc_id": 12762,
"hgvs_c": "c.1209G>A",
"hgvs_p": "p.Ser403Ser",
"transcript": "ENST00000956580.1",
"protein_id": "ENSP00000626639.1",
"transcript_support_level": null,
"aa_start": 403,
"aa_end": null,
"aa_length": 863,
"cds_start": 1209,
"cds_end": null,
"cds_length": 2592,
"cdna_start": 1345,
"cdna_end": null,
"cdna_length": 3525,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956580.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"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": "WFS1",
"gene_hgnc_id": 12762,
"hgvs_c": "c.1041G>A",
"hgvs_p": "p.Ser347Ser",
"transcript": "ENST00000506362.2",
"protein_id": "ENSP00000424103.2",
"transcript_support_level": 3,
"aa_start": 347,
"aa_end": null,
"aa_length": 807,
"cds_start": 1041,
"cds_end": null,
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{
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{
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"consequences": [
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"exon_count": 7,
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"transcript": "ENST00000683395.1",
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"feature": "ENST00000683395.1"
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{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
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"gene_symbol": "WFS1",
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"hgvs_c": "n.1475G>A",
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"transcript": "ENST00000507765.1",
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"biotype": "retained_intron",
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{
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"intron_variant"
],
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"gene_symbol": "ENSG00000286176",
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"biotype": "pseudogene",
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},
{
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"intron_variant"
],
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"gene_symbol": "ENSG00000286176",
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"biotype": "pseudogene",
"feature": "ENST00000665800.1"
}
],
"gene_symbol": "WFS1",
"gene_hgnc_id": 12762,
"dbsnp": "rs752100338",
"frequency_reference_population": 0.000011772943,
"hom_count_reference_population": 0,
"allele_count_reference_population": 19,
"gnomad_exomes_af": 0.0000109457,
"gnomad_genomes_af": 0.0000197221,
"gnomad_exomes_ac": 16,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8999999761581421,
"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": -0.9,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -4.314,
"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": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong,BP6,BP7",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_006005.3",
"gene_symbol": "WFS1",
"hgnc_id": 12762,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD,AR,Unknown",
"hgvs_c": "c.1290G>A",
"hgvs_p": "p.Ser430Ser"
},
{
"score": -3,
"benign_score": 5,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6"
],
"verdict": "Likely_benign",
"transcript": "ENST00000661896.1",
"gene_symbol": "ENSG00000286176",
"hgnc_id": 58722,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.1337+2830C>T",
"hgvs_p": null
}
],
"clinvar_disease": " Dominant,Nonsyndromic Hearing Loss,WFS1-Related Spectrum Disorders,Wolfram syndrome 1,not provided,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:2 LB:2 B:1",
"phenotype_combined": "not specified|Nonsyndromic Hearing Loss, Dominant|WFS1-Related Spectrum Disorders|not provided|Wolfram syndrome 1",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}