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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: 4-6301035-TTCG-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=6301035&ref=TTCG&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 6301035,
"ref": "TTCG",
"alt": "T",
"effect": "conservative_inframe_deletion",
"transcript": "NM_006005.3",
"consequences": [
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"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.1243_1245delGTC",
"hgvs_p": "p.Val415del",
"transcript": "NM_006005.3",
"protein_id": "NP_005996.2",
"transcript_support_level": null,
"aa_start": 415,
"aa_end": null,
"aa_length": 890,
"cds_start": 1243,
"cds_end": null,
"cds_length": 2673,
"cdna_start": 1413,
"cdna_end": null,
"cdna_length": 3640,
"mane_select": "ENST00000226760.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006005.3"
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"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.1243_1245delGTC",
"hgvs_p": "p.Val415del",
"transcript": "ENST00000226760.5",
"protein_id": "ENSP00000226760.1",
"transcript_support_level": 1,
"aa_start": 415,
"aa_end": null,
"aa_length": 890,
"cds_start": 1243,
"cds_end": null,
"cds_length": 2673,
"cdna_start": 1413,
"cdna_end": null,
"cdna_length": 3640,
"mane_select": "NM_006005.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000226760.5"
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"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.1243_1245delGTC",
"hgvs_p": "p.Val415del",
"transcript": "ENST00000503569.5",
"protein_id": "ENSP00000423337.1",
"transcript_support_level": 1,
"aa_start": 415,
"aa_end": null,
"aa_length": 890,
"cds_start": 1243,
"cds_end": null,
"cds_length": 2673,
"cdna_start": 1410,
"cdna_end": null,
"cdna_length": 3255,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000503569.5"
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"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.1336_1338delGTC",
"hgvs_p": "p.Val446del",
"transcript": "ENST00000852027.1",
"protein_id": "ENSP00000522086.1",
"transcript_support_level": null,
"aa_start": 446,
"aa_end": null,
"aa_length": 921,
"cds_start": 1336,
"cds_end": null,
"cds_length": 2766,
"cdna_start": 1499,
"cdna_end": null,
"cdna_length": 3726,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852027.1"
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"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.1279_1281delGTC",
"hgvs_p": "p.Val427del",
"transcript": "ENST00000673991.1",
"protein_id": "ENSP00000501033.1",
"transcript_support_level": null,
"aa_start": 427,
"aa_end": null,
"aa_length": 902,
"cds_start": 1279,
"cds_end": null,
"cds_length": 2709,
"cdna_start": 1446,
"cdna_end": null,
"cdna_length": 3633,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000673991.1"
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"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.1279_1281delGTC",
"hgvs_p": "p.Val427del",
"transcript": "ENST00000682275.1",
"protein_id": "ENSP00000507852.1",
"transcript_support_level": null,
"aa_start": 427,
"aa_end": null,
"aa_length": 902,
"cds_start": 1279,
"cds_end": null,
"cds_length": 2709,
"cdna_start": 1449,
"cdna_end": null,
"cdna_length": 3662,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000682275.1"
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"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.1279_1281delGTC",
"hgvs_p": "p.Val427del",
"transcript": "ENST00000852029.1",
"protein_id": "ENSP00000522088.1",
"transcript_support_level": null,
"aa_start": 427,
"aa_end": null,
"aa_length": 902,
"cds_start": 1279,
"cds_end": null,
"cds_length": 2709,
"cdna_start": 1356,
"cdna_end": null,
"cdna_length": 3583,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852029.1"
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"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.1279_1281delGTC",
"hgvs_p": "p.Val427del",
"transcript": "ENST00000956586.1",
"protein_id": "ENSP00000626645.1",
"transcript_support_level": null,
"aa_start": 427,
"aa_end": null,
"aa_length": 902,
"cds_start": 1279,
"cds_end": null,
"cds_length": 2709,
"cdna_start": 1338,
"cdna_end": null,
"cdna_length": 3565,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956586.1"
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"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.1243_1245delGTC",
"hgvs_p": "p.Val415del",
"transcript": "NM_001145853.1",
"protein_id": "NP_001139325.1",
"transcript_support_level": null,
"aa_start": 415,
"aa_end": null,
"aa_length": 890,
"cds_start": 1243,
"cds_end": null,
"cds_length": 2673,
"cdna_start": 1409,
"cdna_end": null,
"cdna_length": 3636,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001145853.1"
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"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.1243_1245delGTC",
"hgvs_p": "p.Val415del",
"transcript": "ENST00000684087.1",
"protein_id": "ENSP00000506978.1",
"transcript_support_level": null,
"aa_start": 415,
"aa_end": null,
"aa_length": 890,
"cds_start": 1243,
"cds_end": null,
"cds_length": 2673,
"cdna_start": 1390,
"cdna_end": null,
"cdna_length": 3602,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000684087.1"
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"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.1243_1245delGTC",
"hgvs_p": "p.Val415del",
"transcript": "ENST00000852028.1",
"protein_id": "ENSP00000522087.1",
"transcript_support_level": null,
"aa_start": 415,
"aa_end": null,
"aa_length": 890,
"cds_start": 1243,
"cds_end": null,
"cds_length": 2673,
"cdna_start": 1338,
"cdna_end": null,
"cdna_length": 3565,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852028.1"
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"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.1243_1245delGTC",
"hgvs_p": "p.Val415del",
"transcript": "ENST00000938521.1",
"protein_id": "ENSP00000608580.1",
"transcript_support_level": null,
"aa_start": 415,
"aa_end": null,
"aa_length": 890,
"cds_start": 1243,
"cds_end": null,
"cds_length": 2673,
"cdna_start": 1331,
"cdna_end": null,
"cdna_length": 3173,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938521.1"
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"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.1243_1245delGTC",
"hgvs_p": "p.Val415del",
"transcript": "ENST00000956579.1",
"protein_id": "ENSP00000626638.1",
"transcript_support_level": null,
"aa_start": 415,
"aa_end": null,
"aa_length": 890,
"cds_start": 1243,
"cds_end": null,
"cds_length": 2673,
"cdna_start": 1504,
"cdna_end": null,
"cdna_length": 3729,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956579.1"
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"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.1243_1245delGTC",
"hgvs_p": "p.Val415del",
"transcript": "ENST00000956583.1",
"protein_id": "ENSP00000626642.1",
"transcript_support_level": null,
"aa_start": 415,
"aa_end": null,
"aa_length": 890,
"cds_start": 1243,
"cds_end": null,
"cds_length": 2673,
"cdna_start": 1283,
"cdna_end": null,
"cdna_length": 3510,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956583.1"
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"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.1243_1245delGTC",
"hgvs_p": "p.Val415del",
"transcript": "ENST00000956584.1",
"protein_id": "ENSP00000626643.1",
"transcript_support_level": null,
"aa_start": 415,
"aa_end": null,
"aa_length": 890,
"cds_start": 1243,
"cds_end": null,
"cds_length": 2673,
"cdna_start": 1355,
"cdna_end": null,
"cdna_length": 3581,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956584.1"
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"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.1243_1245delGTC",
"hgvs_p": "p.Val415del",
"transcript": "ENST00000956585.1",
"protein_id": "ENSP00000626644.1",
"transcript_support_level": null,
"aa_start": 415,
"aa_end": null,
"aa_length": 890,
"cds_start": 1243,
"cds_end": null,
"cds_length": 2673,
"cdna_start": 1367,
"cdna_end": null,
"cdna_length": 3593,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956585.1"
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"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.1234_1236delGTC",
"hgvs_p": "p.Val412del",
"transcript": "ENST00000938520.1",
"protein_id": "ENSP00000608579.1",
"transcript_support_level": null,
"aa_start": 412,
"aa_end": null,
"aa_length": 887,
"cds_start": 1234,
"cds_end": null,
"cds_length": 2664,
"cdna_start": 1415,
"cdna_end": null,
"cdna_length": 3257,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938520.1"
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"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.1198_1200delGTC",
"hgvs_p": "p.Val400del",
"transcript": "ENST00000956581.1",
"protein_id": "ENSP00000626640.1",
"transcript_support_level": null,
"aa_start": 400,
"aa_end": null,
"aa_length": 875,
"cds_start": 1198,
"cds_end": null,
"cds_length": 2628,
"cdna_start": 1336,
"cdna_end": null,
"cdna_length": 3553,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956581.1"
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"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.1162_1164delGTC",
"hgvs_p": "p.Val388del",
"transcript": "ENST00000852030.1",
"protein_id": "ENSP00000522089.1",
"transcript_support_level": null,
"aa_start": 388,
"aa_end": null,
"aa_length": 863,
"cds_start": 1162,
"cds_end": null,
"cds_length": 2592,
"cdna_start": 1309,
"cdna_end": null,
"cdna_length": 3154,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852030.1"
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"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.1162_1164delGTC",
"hgvs_p": "p.Val388del",
"transcript": "ENST00000956580.1",
"protein_id": "ENSP00000626639.1",
"transcript_support_level": null,
"aa_start": 388,
"aa_end": null,
"aa_length": 863,
"cds_start": 1162,
"cds_end": null,
"cds_length": 2592,
"cdna_start": 1298,
"cdna_end": null,
"cdna_length": 3525,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956580.1"
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"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.994_996delGTC",
"hgvs_p": "p.Val332del",
"transcript": "ENST00000506362.2",
"protein_id": "ENSP00000424103.2",
"transcript_support_level": 3,
"aa_start": 332,
"aa_end": null,
"aa_length": 807,
"cds_start": 994,
"cds_end": null,
"cds_length": 2424,
"cdna_start": 1049,
"cdna_end": null,
"cdna_length": 2882,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000506362.2"
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"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.991_993delGTC",
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{
"aa_ref": "RH",
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{
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{
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"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
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"exon_count": 5,
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"cdna_length": 3655,
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"biotype": "retained_intron",
"feature": "ENST00000507765.1"
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{
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"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 3,
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"gene_symbol": "ENSG00000286176",
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"hgvs_c": "n.1337+2877_1337+2879delCGA",
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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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"hgvs_c": "n.1496+2824_1496+2826delCGA",
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"feature": "ENST00000665800.1"
},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 2,
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"gene_symbol": "WFS1",
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"hgvs_c": "n.*229_*231delTCG",
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"transcript": "ENST00000513395.1",
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"biotype": "retained_intron",
"feature": "ENST00000513395.1"
}
],
"gene_symbol": "WFS1",
"gene_hgnc_id": 12762,
"dbsnp": "rs863224265",
"frequency_reference_population": 0.000063815576,
"hom_count_reference_population": 0,
"allele_count_reference_population": 103,
"gnomad_exomes_af": 0.0000615641,
"gnomad_genomes_af": 0.0000854499,
"gnomad_exomes_ac": 90,
"gnomad_genomes_ac": 13,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"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": 7.502,
"phylop100way_prediction": "Uncertain_significance",
"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": 13,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PS3,PM4_Supporting,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 13,
"benign_score": 0,
"pathogenic_score": 13,
"criteria": [
"PS3",
"PM4_Supporting",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "NM_006005.3",
"gene_symbol": "WFS1",
"hgnc_id": 12762,
"effects": [
"conservative_inframe_deletion"
],
"inheritance_mode": "AD,AR,Unknown",
"hgvs_c": "c.1243_1245delGTC",
"hgvs_p": "p.Val415del"
},
{
"score": 12,
"benign_score": 0,
"pathogenic_score": 12,
"criteria": [
"PS3",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000661896.1",
"gene_symbol": "ENSG00000286176",
"hgnc_id": 58722,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.1337+2877_1337+2879delCGA",
"hgvs_p": null
}
],
"clinvar_disease": "Autosomal dominant nonsyndromic hearing loss 6,Cataract 41,Rare genetic deafness,Type 2 diabetes mellitus,WFS1-Related Spectrum Disorders,WFS1-related disorder,Wolfram syndrome 1,Wolfram-like syndrome,not provided",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:5",
"phenotype_combined": "not provided|Rare genetic deafness|Wolfram syndrome 1|Autosomal dominant nonsyndromic hearing loss 6;Wolfram syndrome 1;Type 2 diabetes mellitus;Cataract 41;Wolfram-like syndrome|WFS1-Related Spectrum Disorders|WFS1-related disorder",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}