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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: 11-62705320-GG-TCC (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=62705320&ref=GG&alt=TCC&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 62705320,
"ref": "GG",
"alt": "TCC",
"effect": "frameshift_variant,missense_variant",
"transcript": "ENST00000360796.10",
"consequences": [
{
"aa_ref": "SP",
"aa_alt": "RD?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BSCL2",
"gene_hgnc_id": 15832,
"hgvs_c": "c.384_385delCCinsGGA",
"hgvs_p": "p.Ser128fs",
"transcript": "NM_001122955.4",
"protein_id": "NP_001116427.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 462,
"cds_start": 384,
"cds_end": null,
"cds_length": 1389,
"cdna_start": 614,
"cdna_end": null,
"cdna_length": 1710,
"mane_select": "ENST00000360796.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "SP",
"aa_alt": "RD?",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BSCL2",
"gene_hgnc_id": 15832,
"hgvs_c": "c.384_385delCCinsGGA",
"hgvs_p": "p.Ser128fs",
"transcript": "ENST00000360796.10",
"protein_id": "ENSP00000354032.5",
"transcript_support_level": 1,
"aa_start": 128,
"aa_end": null,
"aa_length": 462,
"cds_start": 384,
"cds_end": null,
"cds_length": 1389,
"cdna_start": 614,
"cdna_end": null,
"cdna_length": 1710,
"mane_select": "NM_001122955.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "SP",
"aa_alt": "RD?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BSCL2",
"gene_hgnc_id": 15832,
"hgvs_c": "c.384_385delCCinsGGA",
"hgvs_p": "p.Ser128fs",
"transcript": "ENST00000405837.5",
"protein_id": "ENSP00000385332.1",
"transcript_support_level": 1,
"aa_start": 128,
"aa_end": null,
"aa_length": 464,
"cds_start": 384,
"cds_end": null,
"cds_length": 1395,
"cdna_start": 882,
"cdna_end": null,
"cdna_length": 1984,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "SP",
"aa_alt": "RD?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BSCL2",
"gene_hgnc_id": 15832,
"hgvs_c": "c.192_193delCCinsGGA",
"hgvs_p": "p.Ser64fs",
"transcript": "ENST00000407022.7",
"protein_id": "ENSP00000384080.3",
"transcript_support_level": 1,
"aa_start": 64,
"aa_end": null,
"aa_length": 398,
"cds_start": 192,
"cds_end": null,
"cds_length": 1197,
"cdna_start": 440,
"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": 15,
"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.*435_*436delCCinsGGA",
"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": 15,
"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.*435_*436delCCinsGGA",
"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": "SP",
"aa_alt": "RD?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BSCL2",
"gene_hgnc_id": 15832,
"hgvs_c": "c.384_385delCCinsGGA",
"hgvs_p": "p.Ser128fs",
"transcript": "ENST00000683296.1",
"protein_id": "ENSP00000507725.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 465,
"cds_start": 384,
"cds_end": null,
"cds_length": 1398,
"cdna_start": 777,
"cdna_end": null,
"cdna_length": 1882,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "SP",
"aa_alt": "RD?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BSCL2",
"gene_hgnc_id": 15832,
"hgvs_c": "c.384_385delCCinsGGA",
"hgvs_p": "p.Ser128fs",
"transcript": "NM_001386027.1",
"protein_id": "NP_001372956.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 464,
"cds_start": 384,
"cds_end": null,
"cds_length": 1395,
"cdna_start": 905,
"cdna_end": null,
"cdna_length": 2007,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "SP",
"aa_alt": "RD?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BSCL2",
"gene_hgnc_id": 15832,
"hgvs_c": "c.384_385delCCinsGGA",
"hgvs_p": "p.Ser128fs",
"transcript": "NM_001386028.1",
"protein_id": "NP_001372957.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 462,
"cds_start": 384,
"cds_end": null,
"cds_length": 1389,
"cdna_start": 905,
"cdna_end": null,
"cdna_length": 2001,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "SP",
"aa_alt": "RD?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BSCL2",
"gene_hgnc_id": 15832,
"hgvs_c": "c.384_385delCCinsGGA",
"hgvs_p": "p.Ser128fs",
"transcript": "ENST00000524862.6",
"protein_id": "ENSP00000433888.2",
"transcript_support_level": 5,
"aa_start": 128,
"aa_end": null,
"aa_length": 462,
"cds_start": 384,
"cds_end": null,
"cds_length": 1389,
"cdna_start": 787,
"cdna_end": null,
"cdna_length": 1863,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "SP",
"aa_alt": "RD?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BSCL2",
"gene_hgnc_id": 15832,
"hgvs_c": "c.384_385delCCinsGGA",
"hgvs_p": "p.Ser128fs",
"transcript": "ENST00000679883.1",
"protein_id": "ENSP00000505838.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 462,
"cds_start": 384,
"cds_end": null,
"cds_length": 1389,
"cdna_start": 905,
"cdna_end": null,
"cdna_length": 2001,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "SP",
"aa_alt": "RD?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BSCL2",
"gene_hgnc_id": 15832,
"hgvs_c": "c.384_385delCCinsGGA",
"hgvs_p": "p.Ser128fs",
"transcript": "ENST00000684067.1",
"protein_id": "ENSP00000506799.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 448,
"cds_start": 384,
"cds_end": null,
"cds_length": 1347,
"cdna_start": 777,
"cdna_end": null,
"cdna_length": 1818,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "SP",
"aa_alt": "RD?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BSCL2",
"gene_hgnc_id": 15832,
"hgvs_c": "c.384_385delCCinsGGA",
"hgvs_p": "p.Ser128fs",
"transcript": "ENST00000682223.1",
"protein_id": "ENSP00000508140.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 418,
"cds_start": 384,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 777,
"cdna_end": null,
"cdna_length": 1793,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "SP",
"aa_alt": "RD?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BSCL2",
"gene_hgnc_id": 15832,
"hgvs_c": "c.384_385delCCinsGGA",
"hgvs_p": "p.Ser128fs",
"transcript": "ENST00000684475.1",
"protein_id": "ENSP00000507429.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 417,
"cds_start": 384,
"cds_end": null,
"cds_length": 1254,
"cdna_start": 777,
"cdna_end": null,
"cdna_length": 2724,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "SP",
"aa_alt": "RD?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BSCL2",
"gene_hgnc_id": 15832,
"hgvs_c": "c.192_193delCCinsGGA",
"hgvs_p": "p.Ser64fs",
"transcript": "NM_032667.6",
"protein_id": "NP_116056.3",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 398,
"cds_start": 192,
"cds_end": null,
"cds_length": 1197,
"cdna_start": 411,
"cdna_end": null,
"cdna_length": 1520,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "SP",
"aa_alt": "RD?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BSCL2",
"gene_hgnc_id": 15832,
"hgvs_c": "c.192_193delCCinsGGA",
"hgvs_p": "p.Ser64fs",
"transcript": "ENST00000403550.5",
"protein_id": "ENSP00000385561.1",
"transcript_support_level": 5,
"aa_start": 64,
"aa_end": null,
"aa_length": 398,
"cds_start": 192,
"cds_end": null,
"cds_length": 1197,
"cdna_start": 617,
"cdna_end": null,
"cdna_length": 1693,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "SP",
"aa_alt": "RD?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BSCL2",
"gene_hgnc_id": 15832,
"hgvs_c": "c.192_193delCCinsGGA",
"hgvs_p": "p.Ser64fs",
"transcript": "ENST00000421906.5",
"protein_id": "ENSP00000413209.1",
"transcript_support_level": 5,
"aa_start": 64,
"aa_end": null,
"aa_length": 398,
"cds_start": 192,
"cds_end": null,
"cds_length": 1197,
"cdna_start": 384,
"cdna_end": null,
"cdna_length": 1440,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "SP",
"aa_alt": "RD?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BSCL2",
"gene_hgnc_id": 15832,
"hgvs_c": "c.192_193delCCinsGGA",
"hgvs_p": "p.Ser64fs",
"transcript": "NM_001130702.2",
"protein_id": "NP_001124174.2",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 287,
"cds_start": 192,
"cds_end": null,
"cds_length": 864,
"cdna_start": 411,
"cdna_end": null,
"cdna_length": 1378,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "SP",
"aa_alt": "RD?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BSCL2",
"gene_hgnc_id": 15832,
"hgvs_c": "c.192_193delCCinsGGA",
"hgvs_p": "p.Ser64fs",
"transcript": "ENST00000278893.11",
"protein_id": "ENSP00000278893.7",
"transcript_support_level": 2,
"aa_start": 64,
"aa_end": null,
"aa_length": 287,
"cds_start": 192,
"cds_end": null,
"cds_length": 864,
"cdna_start": 411,
"cdna_end": null,
"cdna_length": 1364,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "SP",
"aa_alt": "RD?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BSCL2",
"gene_hgnc_id": 15832,
"hgvs_c": "c.192_193delCCinsGGA",
"hgvs_p": "p.Ser64fs",
"transcript": "ENST00000448568.6",
"protein_id": "ENSP00000413340.2",
"transcript_support_level": 3,
"aa_start": 64,
"aa_end": null,
"aa_length": 222,
"cds_start": 192,
"cds_end": null,
"cds_length": 671,
"cdna_start": 514,
"cdna_end": null,
"cdna_length": 992,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "SP",
"aa_alt": "RD?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BSCL2",
"gene_hgnc_id": 15832,
"hgvs_c": "c.192_193delCCinsGGA",
"hgvs_p": "p.Ser64fs",
"transcript": "ENST00000533982.1",
"protein_id": "ENSP00000434149.1",
"transcript_support_level": 5,
"aa_start": 64,
"aa_end": null,
"aa_length": 98,
"cds_start": 192,
"cds_end": null,
"cds_length": 298,
"cdna_start": 480,
"cdna_end": null,
"cdna_length": 585,
"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": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BSCL2",
"gene_hgnc_id": 15832,
"hgvs_c": "n.384_385delCCinsGGA",
"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
},
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{
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"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
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"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}