← Back to variant description
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: 11-62690476-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=62690476&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 62690476,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000360796.10",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BSCL2",
"gene_hgnc_id": 15832,
"hgvs_c": "c.1280T>C",
"hgvs_p": "p.Leu427Pro",
"transcript": "NM_001122955.4",
"protein_id": "NP_001116427.1",
"transcript_support_level": null,
"aa_start": 427,
"aa_end": null,
"aa_length": 462,
"cds_start": 1280,
"cds_end": null,
"cds_length": 1389,
"cdna_start": 1509,
"cdna_end": null,
"cdna_length": 1710,
"mane_select": "ENST00000360796.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BSCL2",
"gene_hgnc_id": 15832,
"hgvs_c": "c.1280T>C",
"hgvs_p": "p.Leu427Pro",
"transcript": "ENST00000360796.10",
"protein_id": "ENSP00000354032.5",
"transcript_support_level": 1,
"aa_start": 427,
"aa_end": null,
"aa_length": 462,
"cds_start": 1280,
"cds_end": null,
"cds_length": 1389,
"cdna_start": 1509,
"cdna_end": null,
"cdna_length": 1710,
"mane_select": "NM_001122955.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BSCL2",
"gene_hgnc_id": 15832,
"hgvs_c": "c.1286T>C",
"hgvs_p": "p.Leu429Pro",
"transcript": "ENST00000405837.5",
"protein_id": "ENSP00000385332.1",
"transcript_support_level": 1,
"aa_start": 429,
"aa_end": null,
"aa_length": 464,
"cds_start": 1286,
"cds_end": null,
"cds_length": 1395,
"cdna_start": 1783,
"cdna_end": null,
"cdna_length": 1984,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BSCL2",
"gene_hgnc_id": 15832,
"hgvs_c": "c.1088T>C",
"hgvs_p": "p.Leu363Pro",
"transcript": "ENST00000407022.7",
"protein_id": "ENSP00000384080.3",
"transcript_support_level": 1,
"aa_start": 363,
"aa_end": null,
"aa_length": 398,
"cds_start": 1088,
"cds_end": null,
"cds_length": 1197,
"cdna_start": 1335,
"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": 24,
"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.*1331T>C",
"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": 24,
"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.*1331T>C",
"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": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BSCL2",
"gene_hgnc_id": 15832,
"hgvs_c": "c.1289T>C",
"hgvs_p": "p.Leu430Pro",
"transcript": "ENST00000683296.1",
"protein_id": "ENSP00000507725.1",
"transcript_support_level": null,
"aa_start": 430,
"aa_end": null,
"aa_length": 465,
"cds_start": 1289,
"cds_end": null,
"cds_length": 1398,
"cdna_start": 1681,
"cdna_end": null,
"cdna_length": 1882,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BSCL2",
"gene_hgnc_id": 15832,
"hgvs_c": "c.1286T>C",
"hgvs_p": "p.Leu429Pro",
"transcript": "NM_001386027.1",
"protein_id": "NP_001372956.1",
"transcript_support_level": null,
"aa_start": 429,
"aa_end": null,
"aa_length": 464,
"cds_start": 1286,
"cds_end": null,
"cds_length": 1395,
"cdna_start": 1806,
"cdna_end": null,
"cdna_length": 2007,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BSCL2",
"gene_hgnc_id": 15832,
"hgvs_c": "c.1280T>C",
"hgvs_p": "p.Leu427Pro",
"transcript": "NM_001386028.1",
"protein_id": "NP_001372957.1",
"transcript_support_level": null,
"aa_start": 427,
"aa_end": null,
"aa_length": 462,
"cds_start": 1280,
"cds_end": null,
"cds_length": 1389,
"cdna_start": 1800,
"cdna_end": null,
"cdna_length": 2001,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BSCL2",
"gene_hgnc_id": 15832,
"hgvs_c": "c.1280T>C",
"hgvs_p": "p.Leu427Pro",
"transcript": "ENST00000524862.6",
"protein_id": "ENSP00000433888.2",
"transcript_support_level": 5,
"aa_start": 427,
"aa_end": null,
"aa_length": 462,
"cds_start": 1280,
"cds_end": null,
"cds_length": 1389,
"cdna_start": 1682,
"cdna_end": null,
"cdna_length": 1863,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BSCL2",
"gene_hgnc_id": 15832,
"hgvs_c": "c.1280T>C",
"hgvs_p": "p.Leu427Pro",
"transcript": "ENST00000679883.1",
"protein_id": "ENSP00000505838.1",
"transcript_support_level": null,
"aa_start": 427,
"aa_end": null,
"aa_length": 462,
"cds_start": 1280,
"cds_end": null,
"cds_length": 1389,
"cdna_start": 1800,
"cdna_end": null,
"cdna_length": 2001,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BSCL2",
"gene_hgnc_id": 15832,
"hgvs_c": "c.1238T>C",
"hgvs_p": "p.Leu413Pro",
"transcript": "ENST00000684067.1",
"protein_id": "ENSP00000506799.1",
"transcript_support_level": null,
"aa_start": 413,
"aa_end": null,
"aa_length": 448,
"cds_start": 1238,
"cds_end": null,
"cds_length": 1347,
"cdna_start": 1630,
"cdna_end": null,
"cdna_length": 1818,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BSCL2",
"gene_hgnc_id": 15832,
"hgvs_c": "c.1145T>C",
"hgvs_p": "p.Leu382Pro",
"transcript": "ENST00000684475.1",
"protein_id": "ENSP00000507429.1",
"transcript_support_level": null,
"aa_start": 382,
"aa_end": null,
"aa_length": 417,
"cds_start": 1145,
"cds_end": null,
"cds_length": 1254,
"cdna_start": 1537,
"cdna_end": null,
"cdna_length": 2724,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BSCL2",
"gene_hgnc_id": 15832,
"hgvs_c": "c.1088T>C",
"hgvs_p": "p.Leu363Pro",
"transcript": "NM_032667.6",
"protein_id": "NP_116056.3",
"transcript_support_level": null,
"aa_start": 363,
"aa_end": null,
"aa_length": 398,
"cds_start": 1088,
"cds_end": null,
"cds_length": 1197,
"cdna_start": 1306,
"cdna_end": null,
"cdna_length": 1520,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BSCL2",
"gene_hgnc_id": 15832,
"hgvs_c": "c.1088T>C",
"hgvs_p": "p.Leu363Pro",
"transcript": "ENST00000403550.5",
"protein_id": "ENSP00000385561.1",
"transcript_support_level": 5,
"aa_start": 363,
"aa_end": null,
"aa_length": 398,
"cds_start": 1088,
"cds_end": null,
"cds_length": 1197,
"cdna_start": 1512,
"cdna_end": null,
"cdna_length": 1693,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BSCL2",
"gene_hgnc_id": 15832,
"hgvs_c": "c.1088T>C",
"hgvs_p": "p.Leu363Pro",
"transcript": "ENST00000421906.5",
"protein_id": "ENSP00000413209.1",
"transcript_support_level": 5,
"aa_start": 363,
"aa_end": null,
"aa_length": 398,
"cds_start": 1088,
"cds_end": null,
"cds_length": 1197,
"cdna_start": 1279,
"cdna_end": null,
"cdna_length": 1440,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BSCL2",
"gene_hgnc_id": 15832,
"hgvs_c": "c.788T>C",
"hgvs_p": "p.Leu263Pro",
"transcript": "ENST00000449636.6",
"protein_id": "ENSP00000405265.2",
"transcript_support_level": 3,
"aa_start": 263,
"aa_end": null,
"aa_length": 298,
"cds_start": 788,
"cds_end": null,
"cds_length": 897,
"cdna_start": 1194,
"cdna_end": null,
"cdna_length": 2381,
"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": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BSCL2",
"gene_hgnc_id": 15832,
"hgvs_c": "n.*391T>C",
"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": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BSCL2",
"gene_hgnc_id": 15832,
"hgvs_c": "n.1364T>C",
"hgvs_p": null,
"transcript": "ENST00000463679.6",
"protein_id": null,
"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": 1493,
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BSCL2",
"gene_hgnc_id": 15832,
"hgvs_c": "n.312T>C",
"hgvs_p": null,
"transcript": "ENST00000470529.5",
"protein_id": null,
"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": 512,
"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": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BSCL2",
"gene_hgnc_id": 15832,
"hgvs_c": "n.1668T>C",
"hgvs_p": null,
"transcript": "ENST00000682003.1",
"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": 1852,
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BSCL2",
"gene_hgnc_id": 15832,
"hgvs_c": "n.*342T>C",
"hgvs_p": null,
"transcript": "ENST00000682262.1",
"protein_id": "ENSP00000507103.1",
"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": 2764,
"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": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BSCL2",
"gene_hgnc_id": 15832,
"hgvs_c": "n.*391T>C",
"hgvs_p": null,
"transcript": "ENST00000682555.1",
"protein_id": "ENSP00000507814.1",
"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": 2777,
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BSCL2",
"gene_hgnc_id": 15832,
"hgvs_c": "n.2107T>C",
"hgvs_p": null,
"transcript": "ENST00000682644.1",
"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": 2166,
"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": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BSCL2",
"gene_hgnc_id": 15832,
"hgvs_c": "n.1797T>C",
"hgvs_p": null,
"transcript": "ENST00000682794.1",
"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": 1954,
"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": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BSCL2",
"gene_hgnc_id": 15832,
"hgvs_c": "n.*1065T>C",
"hgvs_p": null,
"transcript": "ENST00000683025.1",
"protein_id": "ENSP00000507028.1",
"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": 3133,
"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": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BSCL2",
"gene_hgnc_id": 15832,
"hgvs_c": "n.1090T>C",
"hgvs_p": null,
"transcript": "ENST00000683193.1",
"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": 1240,
"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": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BSCL2",
"gene_hgnc_id": 15832,
"hgvs_c": "n.1678T>C",
"hgvs_p": null,
"transcript": "ENST00000683368.1",
"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": 1835,
"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": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BSCL2",
"gene_hgnc_id": 15832,
"hgvs_c": "n.3160T>C",
"hgvs_p": null,
"transcript": "ENST00000683494.1",
"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": 3344,
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BSCL2",
"gene_hgnc_id": 15832,
"hgvs_c": "n.1620T>C",
"hgvs_p": null,
"transcript": "ENST00000683846.1",
"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": 2807,
"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": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BSCL2",
"gene_hgnc_id": 15832,
"hgvs_c": "n.1920T>C",
"hgvs_p": null,
"transcript": "ENST00000683892.1",
"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": 3107,
"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": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BSCL2",
"gene_hgnc_id": 15832,
"hgvs_c": "n.1861T>C",
"hgvs_p": null,
"transcript": "ENST00000684115.1",
"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": 3048,
"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": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BSCL2",
"gene_hgnc_id": 15832,
"hgvs_c": "n.2053T>C",
"hgvs_p": null,
"transcript": "ENST00000684258.1",
"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": 2238,
"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": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BSCL2",
"gene_hgnc_id": 15832,
"hgvs_c": "n.*787T>C",
"hgvs_p": null,
"transcript": "ENST00000684285.1",
"protein_id": "ENSP00000507669.1",
"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": 2777,
"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": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BSCL2",
"gene_hgnc_id": 15832,
"hgvs_c": "n.2201T>C",
"hgvs_p": null,
"transcript": "ENST00000684609.1",
"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": 2315,
"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": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BSCL2",
"gene_hgnc_id": 15832,
"hgvs_c": "n.3061T>C",
"hgvs_p": null,
"transcript": "ENST00000684720.1",
"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": 3123,
"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": 24,
"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.3800T>C",
"hgvs_p": null,
"transcript": "NR_037946.1",
"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": 4014,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BSCL2",
"gene_hgnc_id": 15832,
"hgvs_c": "c.*13T>C",
"hgvs_p": null,
"transcript": "ENST00000682223.1",
"protein_id": "ENSP00000508140.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 418,
"cds_start": -4,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1793,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BSCL2",
"gene_hgnc_id": 15832,
"hgvs_c": "c.*82T>C",
"hgvs_p": null,
"transcript": "NM_001130702.2",
"protein_id": "NP_001124174.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 287,
"cds_start": -4,
"cds_end": null,
"cds_length": 864,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1378,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BSCL2",
"gene_hgnc_id": 15832,
"hgvs_c": "c.*82T>C",
"hgvs_p": null,
"transcript": "ENST00000278893.11",
"protein_id": "ENSP00000278893.7",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 287,
"cds_start": -4,
"cds_end": null,
"cds_length": 864,
"cdna_start": null,
"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": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BSCL2",
"gene_hgnc_id": 15832,
"hgvs_c": "n.*391T>C",
"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": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BSCL2",
"gene_hgnc_id": 15832,
"hgvs_c": "n.*342T>C",
"hgvs_p": null,
"transcript": "ENST00000682262.1",
"protein_id": "ENSP00000507103.1",
"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": 2764,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BSCL2",
"gene_hgnc_id": 15832,
"hgvs_c": "n.*391T>C",
"hgvs_p": null,
"transcript": "ENST00000682555.1",
"protein_id": "ENSP00000507814.1",
"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": 2777,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BSCL2",
"gene_hgnc_id": 15832,
"hgvs_c": "n.*1065T>C",
"hgvs_p": null,
"transcript": "ENST00000683025.1",
"protein_id": "ENSP00000507028.1",
"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": 3133,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BSCL2",
"gene_hgnc_id": 15832,
"hgvs_c": "n.*787T>C",
"hgvs_p": null,
"transcript": "ENST00000684285.1",
"protein_id": "ENSP00000507669.1",
"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": 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.186-55T>C",
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BSCL2",
"gene_hgnc_id": 15832,
"hgvs_c": "n.*59T>C",
"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
}
],
"gene_symbol": "BSCL2",
"gene_hgnc_id": 15832,
"dbsnp": "rs145649423",
"frequency_reference_population": 0.002951923,
"hom_count_reference_population": 20,
"allele_count_reference_population": 4765,
"gnomad_exomes_af": 0.00295032,
"gnomad_genomes_af": 0.00296732,
"gnomad_exomes_ac": 4313,
"gnomad_genomes_ac": 452,
"gnomad_exomes_homalt": 19,
"gnomad_genomes_homalt": 1,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.006423205137252808,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.257,
"revel_prediction": "Benign",
"alphamissense_score": 0.1055,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.17,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.399,
"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": -13,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6,BS1,BS2",
"acmg_by_gene": [
{
"score": -13,
"benign_score": 13,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000360796.10",
"gene_symbol": "BSCL2",
"hgnc_id": 15832,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.1280T>C",
"hgvs_p": "p.Leu427Pro"
},
{
"score": -9,
"benign_score": 9,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000403734.2",
"gene_symbol": "HNRNPUL2-BSCL2",
"hgnc_id": 49189,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.*1331T>C",
"hgvs_p": null
}
],
"clinvar_disease": " distal hereditary motor, type 5A, type 5C,Charcot-Marie-Tooth disease type 2,Congenital generalized lipodystrophy type 2,Hereditary spastic paraplegia,Hereditary spastic paraplegia 17,Inborn genetic diseases,Monogenic diabetes,Neuronopathy,Severe neurodegenerative syndrome with lipodystrophy,not provided,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:10 B:5",
"phenotype_combined": "not provided|Congenital generalized lipodystrophy type 2|Neuronopathy, distal hereditary motor, type 5A|not specified|Hereditary spastic paraplegia|Monogenic diabetes|Inborn genetic diseases|Congenital generalized lipodystrophy type 2;Hereditary spastic paraplegia 17;Neuronopathy, distal hereditary motor, type 5C;Severe neurodegenerative syndrome with lipodystrophy|Charcot-Marie-Tooth disease type 2",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}