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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: 16-30068824-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=30068824&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 30068824,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000642816.3",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDOA",
"gene_hgnc_id": 414,
"hgvs_c": "c.548A>G",
"hgvs_p": "p.Asp183Gly",
"transcript": "NM_001243177.4",
"protein_id": "NP_001230106.1",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 418,
"cds_start": 548,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 729,
"cdna_end": null,
"cdna_length": 1640,
"mane_select": "ENST00000642816.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDOA",
"gene_hgnc_id": 414,
"hgvs_c": "c.548A>G",
"hgvs_p": "p.Asp183Gly",
"transcript": "ENST00000642816.3",
"protein_id": "ENSP00000496166.1",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 418,
"cds_start": 548,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 729,
"cdna_end": null,
"cdna_length": 1640,
"mane_select": "NM_001243177.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDOA",
"gene_hgnc_id": 414,
"hgvs_c": "c.386A>G",
"hgvs_p": "p.Asp129Gly",
"transcript": "ENST00000412304.6",
"protein_id": "ENSP00000400452.2",
"transcript_support_level": 1,
"aa_start": 129,
"aa_end": null,
"aa_length": 364,
"cds_start": 386,
"cds_end": null,
"cds_length": 1095,
"cdna_start": 695,
"cdna_end": null,
"cdna_length": 1603,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDOA",
"gene_hgnc_id": 414,
"hgvs_c": "c.386A>G",
"hgvs_p": "p.Asp129Gly",
"transcript": "ENST00000563060.6",
"protein_id": "ENSP00000455800.2",
"transcript_support_level": 1,
"aa_start": 129,
"aa_end": null,
"aa_length": 364,
"cds_start": 386,
"cds_end": null,
"cds_length": 1095,
"cdna_start": 639,
"cdna_end": null,
"cdna_length": 1550,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOC112694756",
"gene_hgnc_id": 0,
"hgvs_c": "c.*895A>G",
"hgvs_p": null,
"transcript": "NM_001365304.2",
"protein_id": "NP_001352233.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 139,
"cds_start": -4,
"cds_end": null,
"cds_length": 420,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2323,
"mane_select": "ENST00000338110.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000285043",
"gene_hgnc_id": 0,
"hgvs_c": "c.*895A>G",
"hgvs_p": null,
"transcript": "ENST00000338110.11",
"protein_id": "ENSP00000336927.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 139,
"cds_start": -4,
"cds_end": null,
"cds_length": 420,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2323,
"mane_select": "NM_001365304.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDOA",
"gene_hgnc_id": 414,
"hgvs_c": "c.386A>G",
"hgvs_p": "p.Asp129Gly",
"transcript": "ENST00000395240.7",
"protein_id": "ENSP00000378661.3",
"transcript_support_level": 5,
"aa_start": 129,
"aa_end": null,
"aa_length": 368,
"cds_start": 386,
"cds_end": null,
"cds_length": 1107,
"cdna_start": 558,
"cdna_end": null,
"cdna_length": 1447,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDOA",
"gene_hgnc_id": 414,
"hgvs_c": "c.386A>G",
"hgvs_p": "p.Asp129Gly",
"transcript": "NM_001127617.2",
"protein_id": "NP_001121089.1",
"transcript_support_level": null,
"aa_start": 129,
"aa_end": null,
"aa_length": 364,
"cds_start": 386,
"cds_end": null,
"cds_length": 1095,
"cdna_start": 695,
"cdna_end": null,
"cdna_length": 1612,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDOA",
"gene_hgnc_id": 414,
"hgvs_c": "c.386A>G",
"hgvs_p": "p.Asp129Gly",
"transcript": "NM_184041.5",
"protein_id": "NP_908930.1",
"transcript_support_level": null,
"aa_start": 129,
"aa_end": null,
"aa_length": 364,
"cds_start": 386,
"cds_end": null,
"cds_length": 1095,
"cdna_start": 575,
"cdna_end": null,
"cdna_length": 1486,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDOA",
"gene_hgnc_id": 414,
"hgvs_c": "c.386A>G",
"hgvs_p": "p.Asp129Gly",
"transcript": "NM_184043.2",
"protein_id": "NP_908932.1",
"transcript_support_level": null,
"aa_start": 129,
"aa_end": null,
"aa_length": 364,
"cds_start": 386,
"cds_end": null,
"cds_length": 1095,
"cdna_start": 634,
"cdna_end": null,
"cdna_length": 1551,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDOA",
"gene_hgnc_id": 414,
"hgvs_c": "c.386A>G",
"hgvs_p": "p.Asp129Gly",
"transcript": "ENST00000569545.5",
"protein_id": "ENSP00000455700.1",
"transcript_support_level": 5,
"aa_start": 129,
"aa_end": null,
"aa_length": 364,
"cds_start": 386,
"cds_end": null,
"cds_length": 1095,
"cdna_start": 605,
"cdna_end": null,
"cdna_length": 1359,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDOA",
"gene_hgnc_id": 414,
"hgvs_c": "c.386A>G",
"hgvs_p": "p.Asp129Gly",
"transcript": "ENST00000643777.4",
"protein_id": "ENSP00000494188.2",
"transcript_support_level": null,
"aa_start": 129,
"aa_end": null,
"aa_length": 364,
"cds_start": 386,
"cds_end": null,
"cds_length": 1095,
"cdna_start": 575,
"cdna_end": null,
"cdna_length": 1486,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDOA",
"gene_hgnc_id": 414,
"hgvs_c": "c.386A>G",
"hgvs_p": "p.Asp129Gly",
"transcript": "ENST00000569798.5",
"protein_id": "ENSP00000455857.1",
"transcript_support_level": 2,
"aa_start": 129,
"aa_end": null,
"aa_length": 361,
"cds_start": 386,
"cds_end": null,
"cds_length": 1086,
"cdna_start": 563,
"cdna_end": null,
"cdna_length": 1499,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDOA",
"gene_hgnc_id": 414,
"hgvs_c": "c.548A>G",
"hgvs_p": "p.Asp183Gly",
"transcript": "ENST00000562679.5",
"protein_id": "ENSP00000455455.1",
"transcript_support_level": 5,
"aa_start": 183,
"aa_end": null,
"aa_length": 277,
"cds_start": 548,
"cds_end": null,
"cds_length": 835,
"cdna_start": 619,
"cdna_end": null,
"cdna_length": 906,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDOA",
"gene_hgnc_id": 414,
"hgvs_c": "c.221A>G",
"hgvs_p": "p.Asp74Gly",
"transcript": "ENST00000564688.1",
"protein_id": "ENSP00000457514.1",
"transcript_support_level": 5,
"aa_start": 74,
"aa_end": null,
"aa_length": 203,
"cds_start": 221,
"cds_end": null,
"cds_length": 613,
"cdna_start": 221,
"cdna_end": null,
"cdna_length": 613,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"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": "ALDOA",
"gene_hgnc_id": 414,
"hgvs_c": "c.353A>G",
"hgvs_p": "p.Asp118Gly",
"transcript": "ENST00000562168.5",
"protein_id": "ENSP00000456020.1",
"transcript_support_level": 3,
"aa_start": 118,
"aa_end": null,
"aa_length": 161,
"cds_start": 353,
"cds_end": null,
"cds_length": 486,
"cdna_start": 533,
"cdna_end": null,
"cdna_length": 666,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"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": "ALDOA",
"gene_hgnc_id": 414,
"hgvs_c": "c.386A>G",
"hgvs_p": "p.Asp129Gly",
"transcript": "ENST00000563987.5",
"protein_id": "ENSP00000457643.1",
"transcript_support_level": 2,
"aa_start": 129,
"aa_end": null,
"aa_length": 154,
"cds_start": 386,
"cds_end": null,
"cds_length": 467,
"cdna_start": 505,
"cdna_end": null,
"cdna_length": 586,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDOA",
"gene_hgnc_id": 414,
"hgvs_c": "c.353A>G",
"hgvs_p": "p.Asp118Gly",
"transcript": "ENST00000566846.5",
"protein_id": "ENSP00000454499.1",
"transcript_support_level": 2,
"aa_start": 118,
"aa_end": null,
"aa_length": 139,
"cds_start": 353,
"cds_end": null,
"cds_length": 421,
"cdna_start": 444,
"cdna_end": null,
"cdna_length": 512,
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDOA",
"gene_hgnc_id": 414,
"hgvs_c": "n.1580A>G",
"hgvs_p": null,
"transcript": "ENST00000564521.6",
"protein_id": null,
"transcript_support_level": 5,
"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": 2534,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000285043",
"gene_hgnc_id": null,
"hgvs_c": "c.*568A>G",
"hgvs_p": null,
"transcript": "ENST00000395248.6",
"protein_id": "ENSP00000378669.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 278,
"cds_start": -4,
"cds_end": null,
"cds_length": 837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2430,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOC112694756",
"gene_hgnc_id": null,
"hgvs_c": "c.*895A>G",
"hgvs_p": null,
"transcript": "NM_001365307.2",
"protein_id": "NP_001352236.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 139,
"cds_start": -4,
"cds_end": null,
"cds_length": 420,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2569,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOC112694756",
"gene_hgnc_id": null,
"hgvs_c": "c.*895A>G",
"hgvs_p": null,
"transcript": "NM_001365305.2",
"protein_id": "NP_001352234.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 91,
"cds_start": -4,
"cds_end": null,
"cds_length": 276,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2425,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000285043",
"gene_hgnc_id": null,
"hgvs_c": "c.*895A>G",
"hgvs_p": null,
"transcript": "ENST00000566897.6",
"protein_id": "ENSP00000455724.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 91,
"cds_start": -4,
"cds_end": null,
"cds_length": 276,
"cdna_start": null,
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"cdna_length": 2448,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDOA",
"gene_hgnc_id": 414,
"hgvs_c": "n.-13A>G",
"hgvs_p": null,
"transcript": "ENST00000566146.1",
"protein_id": null,
"transcript_support_level": 1,
"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": 365,
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"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ALDOA",
"gene_hgnc_id": 414,
"dbsnp": "rs121909533",
"frequency_reference_population": 0.0000013680901,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000136809,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9864633083343506,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.939,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9847,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.49,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.268,
"phylop100way_prediction": "Pathogenic",
"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": 7,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong,PP5",
"acmg_by_gene": [
{
"score": 7,
"benign_score": 0,
"pathogenic_score": 7,
"criteria": [
"PM2",
"PP3_Strong",
"PP5"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000642816.3",
"gene_symbol": "ALDOA",
"hgnc_id": 414,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.548A>G",
"hgvs_p": "p.Asp183Gly"
},
{
"score": 7,
"benign_score": 0,
"pathogenic_score": 7,
"criteria": [
"PM2",
"PP3_Strong",
"PP5"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000338110.11",
"gene_symbol": "ENSG00000285043",
"hgnc_id": 0,
"effects": [
"3_prime_UTR_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.*895A>G",
"hgvs_p": null
},
{
"score": 7,
"benign_score": 0,
"pathogenic_score": 7,
"criteria": [
"PM2",
"PP3_Strong",
"PP5"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_001365304.2",
"gene_symbol": "LOC112694756",
"hgnc_id": 0,
"effects": [
"3_prime_UTR_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.*895A>G",
"hgvs_p": null
}
],
"clinvar_disease": "HNSHA due to aldolase A deficiency",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "HNSHA due to aldolase A deficiency",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}