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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: 11-62690369-AGGAACTAGAGCAGGTGGGGCGCTGTC-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=62690369&ref=AGGAACTAGAGCAGGTGGGGCGCTGTC&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 62690369,
"ref": "AGGAACTAGAGCAGGTGGGGCGCTGTC",
"alt": "A",
"effect": "frameshift_variant",
"transcript": "NM_001386027.1",
"consequences": [
{
"aa_ref": "RQRPTCSSS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_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.1361_1386delGACAGCGCCCCACCTGCTCTAGTTCC",
"hgvs_p": "p.Arg454fs",
"transcript": "NM_001122955.4",
"protein_id": "NP_001116427.1",
"transcript_support_level": null,
"aa_start": 454,
"aa_end": null,
"aa_length": 462,
"cds_start": 1361,
"cds_end": null,
"cds_length": 1389,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000360796.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001122955.4"
},
{
"aa_ref": "RQRPTCSSS",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_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.1361_1386delGACAGCGCCCCACCTGCTCTAGTTCC",
"hgvs_p": "p.Arg454fs",
"transcript": "ENST00000360796.10",
"protein_id": "ENSP00000354032.5",
"transcript_support_level": 1,
"aa_start": 454,
"aa_end": null,
"aa_length": 462,
"cds_start": 1361,
"cds_end": null,
"cds_length": 1389,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001122955.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000360796.10"
},
{
"aa_ref": "RQRPTCSSS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_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.1367_1392delGACAGCGCCCCACCTGCTCTAGTTCC",
"hgvs_p": "p.Arg456fs",
"transcript": "ENST00000405837.5",
"protein_id": "ENSP00000385332.1",
"transcript_support_level": 1,
"aa_start": 456,
"aa_end": null,
"aa_length": 464,
"cds_start": 1367,
"cds_end": null,
"cds_length": 1395,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000405837.5"
},
{
"aa_ref": "RQRPTCSSS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_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.1169_1194delGACAGCGCCCCACCTGCTCTAGTTCC",
"hgvs_p": "p.Arg390fs",
"transcript": "ENST00000407022.7",
"protein_id": "ENSP00000384080.3",
"transcript_support_level": 1,
"aa_start": 390,
"aa_end": null,
"aa_length": 398,
"cds_start": 1169,
"cds_end": null,
"cds_length": 1197,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000407022.7"
},
{
"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.*1412_*1437delGACAGCGCCCCACCTGCTCTAGTTCC",
"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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000403734.2"
},
{
"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.*1412_*1437delGACAGCGCCCCACCTGCTCTAGTTCC",
"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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000403734.2"
},
{
"aa_ref": "RQRPTCSSS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_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.1376_1401delGACAGCGCCCCACCTGCTCTAGTTCC",
"hgvs_p": "p.Arg459fs",
"transcript": "ENST00000912246.1",
"protein_id": "ENSP00000582305.1",
"transcript_support_level": null,
"aa_start": 459,
"aa_end": null,
"aa_length": 467,
"cds_start": 1376,
"cds_end": null,
"cds_length": 1404,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912246.1"
},
{
"aa_ref": "RQRPTCSSS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_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.1370_1395delGACAGCGCCCCACCTGCTCTAGTTCC",
"hgvs_p": "p.Arg457fs",
"transcript": "ENST00000683296.1",
"protein_id": "ENSP00000507725.1",
"transcript_support_level": null,
"aa_start": 457,
"aa_end": null,
"aa_length": 465,
"cds_start": 1370,
"cds_end": null,
"cds_length": 1398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000683296.1"
},
{
"aa_ref": "RQRPTCSSS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_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.1370_1395delGACAGCGCCCCACCTGCTCTAGTTCC",
"hgvs_p": "p.Arg457fs",
"transcript": "ENST00000854116.1",
"protein_id": "ENSP00000524175.1",
"transcript_support_level": null,
"aa_start": 457,
"aa_end": null,
"aa_length": 465,
"cds_start": 1370,
"cds_end": null,
"cds_length": 1398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854116.1"
},
{
"aa_ref": "RQRPTCSSS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_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.1370_1395delGACAGCGCCCCACCTGCTCTAGTTCC",
"hgvs_p": "p.Arg457fs",
"transcript": "ENST00000854117.1",
"protein_id": "ENSP00000524176.1",
"transcript_support_level": null,
"aa_start": 457,
"aa_end": null,
"aa_length": 465,
"cds_start": 1370,
"cds_end": null,
"cds_length": 1398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854117.1"
},
{
"aa_ref": "RQRPTCSSS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_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.1370_1395delGACAGCGCCCCACCTGCTCTAGTTCC",
"hgvs_p": "p.Arg457fs",
"transcript": "ENST00000854120.1",
"protein_id": "ENSP00000524179.1",
"transcript_support_level": null,
"aa_start": 457,
"aa_end": null,
"aa_length": 465,
"cds_start": 1370,
"cds_end": null,
"cds_length": 1398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854120.1"
},
{
"aa_ref": "RQRPTCSSS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_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.1367_1392delGACAGCGCCCCACCTGCTCTAGTTCC",
"hgvs_p": "p.Arg456fs",
"transcript": "NM_001386027.1",
"protein_id": "NP_001372956.1",
"transcript_support_level": null,
"aa_start": 456,
"aa_end": null,
"aa_length": 464,
"cds_start": 1367,
"cds_end": null,
"cds_length": 1395,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001386027.1"
},
{
"aa_ref": "RQRPTCSSS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_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.1367_1392delGACAGCGCCCCACCTGCTCTAGTTCC",
"hgvs_p": "p.Arg456fs",
"transcript": "ENST00000854118.1",
"protein_id": "ENSP00000524177.1",
"transcript_support_level": null,
"aa_start": 456,
"aa_end": null,
"aa_length": 464,
"cds_start": 1367,
"cds_end": null,
"cds_length": 1395,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854118.1"
},
{
"aa_ref": "RQRPTCSSS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_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.1361_1386delGACAGCGCCCCACCTGCTCTAGTTCC",
"hgvs_p": "p.Arg454fs",
"transcript": "NM_001386028.1",
"protein_id": "NP_001372957.1",
"transcript_support_level": null,
"aa_start": 454,
"aa_end": null,
"aa_length": 462,
"cds_start": 1361,
"cds_end": null,
"cds_length": 1389,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001386028.1"
},
{
"aa_ref": "RQRPTCSSS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_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.1361_1386delGACAGCGCCCCACCTGCTCTAGTTCC",
"hgvs_p": "p.Arg454fs",
"transcript": "ENST00000524862.6",
"protein_id": "ENSP00000433888.2",
"transcript_support_level": 5,
"aa_start": 454,
"aa_end": null,
"aa_length": 462,
"cds_start": 1361,
"cds_end": null,
"cds_length": 1389,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000524862.6"
},
{
"aa_ref": "RQRPTCSSS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_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.1361_1386delGACAGCGCCCCACCTGCTCTAGTTCC",
"hgvs_p": "p.Arg454fs",
"transcript": "ENST00000679883.1",
"protein_id": "ENSP00000505838.1",
"transcript_support_level": null,
"aa_start": 454,
"aa_end": null,
"aa_length": 462,
"cds_start": 1361,
"cds_end": null,
"cds_length": 1389,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000679883.1"
},
{
"aa_ref": "RQRPTCSSS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_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.1361_1386delGACAGCGCCCCACCTGCTCTAGTTCC",
"hgvs_p": "p.Arg454fs",
"transcript": "ENST00000951455.1",
"protein_id": "ENSP00000621514.1",
"transcript_support_level": null,
"aa_start": 454,
"aa_end": null,
"aa_length": 462,
"cds_start": 1361,
"cds_end": null,
"cds_length": 1389,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951455.1"
},
{
"aa_ref": "RQRPTCSSS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_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.1361_1386delGACAGCGCCCCACCTGCTCTAGTTCC",
"hgvs_p": "p.Arg454fs",
"transcript": "ENST00000951457.1",
"protein_id": "ENSP00000621516.1",
"transcript_support_level": null,
"aa_start": 454,
"aa_end": null,
"aa_length": 462,
"cds_start": 1361,
"cds_end": null,
"cds_length": 1389,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951457.1"
},
{
"aa_ref": "RQRPTCSSS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_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.1355_1380delGACAGCGCCCCACCTGCTCTAGTTCC",
"hgvs_p": "p.Arg452fs",
"transcript": "ENST00000854115.1",
"protein_id": "ENSP00000524174.1",
"transcript_support_level": null,
"aa_start": 452,
"aa_end": null,
"aa_length": 460,
"cds_start": 1355,
"cds_end": null,
"cds_length": 1383,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854115.1"
},
{
"aa_ref": "RQRPTCSSS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_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.1355_1380delGACAGCGCCCCACCTGCTCTAGTTCC",
"hgvs_p": "p.Arg452fs",
"transcript": "ENST00000912245.1",
"protein_id": "ENSP00000582304.1",
"transcript_support_level": null,
"aa_start": 452,
"aa_end": null,
"aa_length": 460,
"cds_start": 1355,
"cds_end": null,
"cds_length": 1383,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912245.1"
},
{
"aa_ref": "RQRPTCSSS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_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.1319_1344delGACAGCGCCCCACCTGCTCTAGTTCC",
"hgvs_p": "p.Arg440fs",
"transcript": "ENST00000684067.1",
"protein_id": "ENSP00000506799.1",
"transcript_support_level": null,
"aa_start": 440,
"aa_end": null,
"aa_length": 448,
"cds_start": 1319,
"cds_end": null,
"cds_length": 1347,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:1 LP:1",
"phenotype_combined": "Charcot-Marie-Tooth disease type 2|Congenital generalized lipodystrophy type 2;Hereditary spastic paraplegia 17;Severe neurodegenerative syndrome with lipodystrophy;Neuronopathy, distal hereditary motor, type 5C",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}