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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: 11-62691113-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=62691113&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 62691113,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000360796.10",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BSCL2",
"gene_hgnc_id": 15832,
"hgvs_c": "c.1034G>A",
"hgvs_p": "p.Arg345Gln",
"transcript": "NM_001122955.4",
"protein_id": "NP_001116427.1",
"transcript_support_level": null,
"aa_start": 345,
"aa_end": null,
"aa_length": 462,
"cds_start": 1034,
"cds_end": null,
"cds_length": 1389,
"cdna_start": 1263,
"cdna_end": null,
"cdna_length": 1710,
"mane_select": "ENST00000360796.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BSCL2",
"gene_hgnc_id": 15832,
"hgvs_c": "c.1034G>A",
"hgvs_p": "p.Arg345Gln",
"transcript": "ENST00000360796.10",
"protein_id": "ENSP00000354032.5",
"transcript_support_level": 1,
"aa_start": 345,
"aa_end": null,
"aa_length": 462,
"cds_start": 1034,
"cds_end": null,
"cds_length": 1389,
"cdna_start": 1263,
"cdna_end": null,
"cdna_length": 1710,
"mane_select": "NM_001122955.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BSCL2",
"gene_hgnc_id": 15832,
"hgvs_c": "c.1034G>A",
"hgvs_p": "p.Arg345Gln",
"transcript": "ENST00000405837.5",
"protein_id": "ENSP00000385332.1",
"transcript_support_level": 1,
"aa_start": 345,
"aa_end": null,
"aa_length": 464,
"cds_start": 1034,
"cds_end": null,
"cds_length": 1395,
"cdna_start": 1531,
"cdna_end": null,
"cdna_length": 1984,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BSCL2",
"gene_hgnc_id": 15832,
"hgvs_c": "c.842G>A",
"hgvs_p": "p.Arg281Gln",
"transcript": "ENST00000407022.7",
"protein_id": "ENSP00000384080.3",
"transcript_support_level": 1,
"aa_start": 281,
"aa_end": null,
"aa_length": 398,
"cds_start": 842,
"cds_end": null,
"cds_length": 1197,
"cdna_start": 1089,
"cdna_end": null,
"cdna_length": 1516,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPUL2-BSCL2",
"gene_hgnc_id": 49189,
"hgvs_c": "n.*1085G>A",
"hgvs_p": null,
"transcript": "ENST00000403734.2",
"protein_id": "ENSP00000456010.1",
"transcript_support_level": 2,
"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": 4001,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPUL2-BSCL2",
"gene_hgnc_id": 49189,
"hgvs_c": "n.*1085G>A",
"hgvs_p": null,
"transcript": "ENST00000403734.2",
"protein_id": "ENSP00000456010.1",
"transcript_support_level": 2,
"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": 4001,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BSCL2",
"gene_hgnc_id": 15832,
"hgvs_c": "c.1034G>A",
"hgvs_p": "p.Arg345Gln",
"transcript": "ENST00000683296.1",
"protein_id": "ENSP00000507725.1",
"transcript_support_level": null,
"aa_start": 345,
"aa_end": null,
"aa_length": 465,
"cds_start": 1034,
"cds_end": null,
"cds_length": 1398,
"cdna_start": 1426,
"cdna_end": null,
"cdna_length": 1882,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BSCL2",
"gene_hgnc_id": 15832,
"hgvs_c": "c.1034G>A",
"hgvs_p": "p.Arg345Gln",
"transcript": "NM_001386027.1",
"protein_id": "NP_001372956.1",
"transcript_support_level": null,
"aa_start": 345,
"aa_end": null,
"aa_length": 464,
"cds_start": 1034,
"cds_end": null,
"cds_length": 1395,
"cdna_start": 1554,
"cdna_end": null,
"cdna_length": 2007,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BSCL2",
"gene_hgnc_id": 15832,
"hgvs_c": "c.1034G>A",
"hgvs_p": "p.Arg345Gln",
"transcript": "NM_001386028.1",
"protein_id": "NP_001372957.1",
"transcript_support_level": null,
"aa_start": 345,
"aa_end": null,
"aa_length": 462,
"cds_start": 1034,
"cds_end": null,
"cds_length": 1389,
"cdna_start": 1554,
"cdna_end": null,
"cdna_length": 2001,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BSCL2",
"gene_hgnc_id": 15832,
"hgvs_c": "c.1034G>A",
"hgvs_p": "p.Arg345Gln",
"transcript": "ENST00000524862.6",
"protein_id": "ENSP00000433888.2",
"transcript_support_level": 5,
"aa_start": 345,
"aa_end": null,
"aa_length": 462,
"cds_start": 1034,
"cds_end": null,
"cds_length": 1389,
"cdna_start": 1436,
"cdna_end": null,
"cdna_length": 1863,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BSCL2",
"gene_hgnc_id": 15832,
"hgvs_c": "c.1034G>A",
"hgvs_p": "p.Arg345Gln",
"transcript": "ENST00000679883.1",
"protein_id": "ENSP00000505838.1",
"transcript_support_level": null,
"aa_start": 345,
"aa_end": null,
"aa_length": 462,
"cds_start": 1034,
"cds_end": null,
"cds_length": 1389,
"cdna_start": 1554,
"cdna_end": null,
"cdna_length": 2001,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BSCL2",
"gene_hgnc_id": 15832,
"hgvs_c": "c.1034G>A",
"hgvs_p": "p.Arg345Gln",
"transcript": "ENST00000684067.1",
"protein_id": "ENSP00000506799.1",
"transcript_support_level": null,
"aa_start": 345,
"aa_end": null,
"aa_length": 448,
"cds_start": 1034,
"cds_end": null,
"cds_length": 1347,
"cdna_start": 1426,
"cdna_end": null,
"cdna_length": 1818,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BSCL2",
"gene_hgnc_id": 15832,
"hgvs_c": "c.1034G>A",
"hgvs_p": "p.Arg345Gln",
"transcript": "ENST00000682223.1",
"protein_id": "ENSP00000508140.1",
"transcript_support_level": null,
"aa_start": 345,
"aa_end": null,
"aa_length": 418,
"cds_start": 1034,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 1426,
"cdna_end": null,
"cdna_length": 1793,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BSCL2",
"gene_hgnc_id": 15832,
"hgvs_c": "c.899G>A",
"hgvs_p": "p.Arg300Gln",
"transcript": "ENST00000684475.1",
"protein_id": "ENSP00000507429.1",
"transcript_support_level": null,
"aa_start": 300,
"aa_end": null,
"aa_length": 417,
"cds_start": 899,
"cds_end": null,
"cds_length": 1254,
"cdna_start": 1291,
"cdna_end": null,
"cdna_length": 2724,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BSCL2",
"gene_hgnc_id": 15832,
"hgvs_c": "c.842G>A",
"hgvs_p": "p.Arg281Gln",
"transcript": "NM_032667.6",
"protein_id": "NP_116056.3",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 398,
"cds_start": 842,
"cds_end": null,
"cds_length": 1197,
"cdna_start": 1060,
"cdna_end": null,
"cdna_length": 1520,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BSCL2",
"gene_hgnc_id": 15832,
"hgvs_c": "c.842G>A",
"hgvs_p": "p.Arg281Gln",
"transcript": "ENST00000403550.5",
"protein_id": "ENSP00000385561.1",
"transcript_support_level": 5,
"aa_start": 281,
"aa_end": null,
"aa_length": 398,
"cds_start": 842,
"cds_end": null,
"cds_length": 1197,
"cdna_start": 1266,
"cdna_end": null,
"cdna_length": 1693,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BSCL2",
"gene_hgnc_id": 15832,
"hgvs_c": "c.842G>A",
"hgvs_p": "p.Arg281Gln",
"transcript": "ENST00000421906.5",
"protein_id": "ENSP00000413209.1",
"transcript_support_level": 5,
"aa_start": 281,
"aa_end": null,
"aa_length": 398,
"cds_start": 842,
"cds_end": null,
"cds_length": 1197,
"cdna_start": 1033,
"cdna_end": null,
"cdna_length": 1440,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BSCL2",
"gene_hgnc_id": 15832,
"hgvs_c": "c.542G>A",
"hgvs_p": "p.Arg181Gln",
"transcript": "ENST00000449636.6",
"protein_id": "ENSP00000405265.2",
"transcript_support_level": 3,
"aa_start": 181,
"aa_end": null,
"aa_length": 298,
"cds_start": 542,
"cds_end": null,
"cds_length": 897,
"cdna_start": 948,
"cdna_end": null,
"cdna_length": 2381,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BSCL2",
"gene_hgnc_id": 15832,
"hgvs_c": "c.700G>A",
"hgvs_p": "p.Gly234Arg",
"transcript": "NM_001130702.2",
"protein_id": "NP_001124174.2",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 287,
"cds_start": 700,
"cds_end": null,
"cds_length": 864,
"cdna_start": 918,
"cdna_end": null,
"cdna_length": 1378,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BSCL2",
"gene_hgnc_id": 15832,
"hgvs_c": "c.700G>A",
"hgvs_p": "p.Gly234Arg",
"transcript": "ENST00000278893.11",
"protein_id": "ENSP00000278893.7",
"transcript_support_level": 2,
"aa_start": 234,
"aa_end": null,
"aa_length": 287,
"cds_start": 700,
"cds_end": null,
"cds_length": 864,
"cdna_start": 918,
"cdna_end": null,
"cdna_length": 1364,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BSCL2",
"gene_hgnc_id": 15832,
"hgvs_c": "n.*145G>A",
"hgvs_p": null,
"transcript": "ENST00000301781.10",
"protein_id": "ENSP00000301781.5",
"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": 1712,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"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": "BSCL2",
"gene_hgnc_id": 15832,
"hgvs_c": "n.1364G>A",
"hgvs_p": null,
"transcript": "ENST00000412351.2",
"protein_id": null,
"transcript_support_level": 3,
"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": 1641,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BSCL2",
"gene_hgnc_id": 15832,
"hgvs_c": "n.817G>A",
"hgvs_p": null,
"transcript": "ENST00000463679.6",
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"cdna_end": null,
"cdna_length": 2777,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "BSCL2",
"gene_hgnc_id": 15832,
"hgvs_c": "c.186-692G>A",
"hgvs_p": null,
"transcript": "ENST00000403098.6",
"protein_id": "ENSP00000384258.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 79,
"cds_start": -4,
"cds_end": null,
"cds_length": 240,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 326,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BSCL2",
"gene_hgnc_id": 15832,
"hgvs_c": "n.*223G>A",
"hgvs_p": null,
"transcript": "ENST00000532115.5",
"protein_id": null,
"transcript_support_level": 3,
"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": 328,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "BSCL2",
"gene_hgnc_id": 15832,
"dbsnp": "rs202072835",
"frequency_reference_population": 0.000008673038,
"hom_count_reference_population": 0,
"allele_count_reference_population": 14,
"gnomad_exomes_af": 0.00000615641,
"gnomad_genomes_af": 0.0000328282,
"gnomad_exomes_ac": 9,
"gnomad_genomes_ac": 5,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.046900391578674316,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.276,
"revel_prediction": "Benign",
"alphamissense_score": 0.0628,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.41,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.261,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000360796.10",
"gene_symbol": "BSCL2",
"hgnc_id": 15832,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.1034G>A",
"hgvs_p": "p.Arg345Gln"
},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000403734.2",
"gene_symbol": "HNRNPUL2-BSCL2",
"hgnc_id": 49189,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.*1085G>A",
"hgvs_p": null
}
],
"clinvar_disease": " distal hereditary motor, type 5C,Charcot-Marie-Tooth disease type 2,Congenital generalized lipodystrophy type 2,Hereditary spastic paraplegia 17,Inborn genetic diseases,Neuronopathy,Severe neurodegenerative syndrome with lipodystrophy,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:4",
"phenotype_combined": "Charcot-Marie-Tooth disease type 2|Inborn genetic diseases|Congenital generalized lipodystrophy type 2;Hereditary spastic paraplegia 17;Severe neurodegenerative syndrome with lipodystrophy;Neuronopathy, distal hereditary motor, type 5C|not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}