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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: 11-66531957-GTG-CTC (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=66531957&ref=GTG&alt=CTC&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "BBS1",
"hgnc_id": 966,
"hgvs_c": "c.1702_1704delGTGinsCTC",
"hgvs_p": "p.Val568Leu",
"inheritance_mode": "AR",
"pathogenic_score": 1,
"score": 1,
"transcript": "NM_024649.5",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ENSG00000256349",
"hgnc_id": null,
"hgvs_c": "c.1813_1815delGTGinsCTC",
"hgvs_p": "p.Val605Leu",
"inheritance_mode": "",
"pathogenic_score": 1,
"score": 1,
"transcript": "ENST00000419755.3",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PP3"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ZDHHC24",
"hgnc_id": 27387,
"hgvs_c": "c.560-2471_560-2469delCACinsGAG",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 1,
"score": 1,
"transcript": "NM_001348571.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3",
"acmg_score": 1,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "CTC",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "11",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 593,
"aa_ref": "V",
"aa_start": 568,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3368,
"cdna_start": 1727,
"cds_end": null,
"cds_length": 1782,
"cds_start": 1702,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_024649.5",
"gene_hgnc_id": 966,
"gene_symbol": "BBS1",
"hgvs_c": "c.1702_1704delGTGinsCTC",
"hgvs_p": "p.Val568Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000318312.12",
"protein_coding": true,
"protein_id": "NP_078925.3",
"strand": true,
"transcript": "NM_024649.5",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 593,
"aa_ref": "V",
"aa_start": 568,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3368,
"cdna_start": 1727,
"cds_end": null,
"cds_length": 1782,
"cds_start": 1702,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000318312.12",
"gene_hgnc_id": 966,
"gene_symbol": "BBS1",
"hgvs_c": "c.1702_1704delGTGinsCTC",
"hgvs_p": "p.Val568Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_024649.5",
"protein_coding": true,
"protein_id": "ENSP00000317469.7",
"strand": true,
"transcript": "ENST00000318312.12",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 630,
"aa_ref": "V",
"aa_start": 605,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3547,
"cdna_start": 1891,
"cds_end": null,
"cds_length": 1893,
"cds_start": 1813,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000419755.3",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000256349",
"hgvs_c": "c.1813_1815delGTGinsCTC",
"hgvs_p": "p.Val605Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000398526.3",
"strand": true,
"transcript": "ENST00000419755.3",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 446,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1790,
"cdna_start": null,
"cds_end": null,
"cds_length": 1341,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000393994.4",
"gene_hgnc_id": 966,
"gene_symbol": "BBS1",
"hgvs_c": "c.*182_*184delGTGinsCTC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000377563.2",
"strand": true,
"transcript": "ENST00000393994.4",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 261,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1424,
"cdna_start": null,
"cds_end": null,
"cds_length": 786,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000526986.5",
"gene_hgnc_id": 27387,
"gene_symbol": "ZDHHC24",
"hgvs_c": "c.560-2471_560-2469delCACinsGAG",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000431321.1",
"strand": false,
"transcript": "ENST00000526986.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 3437,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 16,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000529955.5",
"gene_hgnc_id": 966,
"gene_symbol": "BBS1",
"hgvs_c": "n.1881_1883delGTGinsCTC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000529955.5",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 635,
"aa_ref": "V",
"aa_start": 610,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3492,
"cdna_start": 1853,
"cds_end": null,
"cds_length": 1908,
"cds_start": 1828,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000851739.1",
"gene_hgnc_id": 966,
"gene_symbol": "BBS1",
"hgvs_c": "c.1828_1830delGTGinsCTC",
"hgvs_p": "p.Val610Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000521798.1",
"strand": true,
"transcript": "ENST00000851739.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 600,
"aa_ref": "V",
"aa_start": 575,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3426,
"cdna_start": 1764,
"cds_end": null,
"cds_length": 1803,
"cds_start": 1723,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000851731.1",
"gene_hgnc_id": 966,
"gene_symbol": "BBS1",
"hgvs_c": "c.1723_1725delGTGinsCTC",
"hgvs_p": "p.Val575Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000521790.1",
"strand": true,
"transcript": "ENST00000851731.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 597,
"aa_ref": "V",
"aa_start": 572,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3394,
"cdna_start": 1739,
"cds_end": null,
"cds_length": 1794,
"cds_start": 1714,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000851734.1",
"gene_hgnc_id": 966,
"gene_symbol": "BBS1",
"hgvs_c": "c.1714_1716delGTGinsCTC",
"hgvs_p": "p.Val572Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000521793.1",
"strand": true,
"transcript": "ENST00000851734.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 591,
"aa_ref": "V",
"aa_start": 566,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3355,
"cdna_start": 1717,
"cds_end": null,
"cds_length": 1776,
"cds_start": 1696,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000967329.1",
"gene_hgnc_id": 966,
"gene_symbol": "BBS1",
"hgvs_c": "c.1696_1698delGTGinsCTC",
"hgvs_p": "p.Val566Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000637388.1",
"strand": true,
"transcript": "ENST00000967329.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 590,
"aa_ref": "V",
"aa_start": 565,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3353,
"cdna_start": 1714,
"cds_end": null,
"cds_length": 1773,
"cds_start": 1693,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000851740.1",
"gene_hgnc_id": 966,
"gene_symbol": "BBS1",
"hgvs_c": "c.1693_1695delGTGinsCTC",
"hgvs_p": "p.Val565Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000521799.1",
"strand": true,
"transcript": "ENST00000851740.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 585,
"aa_ref": "V",
"aa_start": 560,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3335,
"cdna_start": 1696,
"cds_end": null,
"cds_length": 1758,
"cds_start": 1678,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000851743.1",
"gene_hgnc_id": 966,
"gene_symbol": "BBS1",
"hgvs_c": "c.1678_1680delGTGinsCTC",
"hgvs_p": "p.Val560Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000521802.1",
"strand": true,
"transcript": "ENST00000851743.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 583,
"aa_ref": "V",
"aa_start": 558,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3330,
"cdna_start": 1673,
"cds_end": null,
"cds_length": 1752,
"cds_start": 1672,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000851741.1",
"gene_hgnc_id": 966,
"gene_symbol": "BBS1",
"hgvs_c": "c.1672_1674delGTGinsCTC",
"hgvs_p": "p.Val558Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000521800.1",
"strand": true,
"transcript": "ENST00000851741.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 580,
"aa_ref": "V",
"aa_start": 555,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3306,
"cdna_start": 1667,
"cds_end": null,
"cds_length": 1743,
"cds_start": 1663,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000967330.1",
"gene_hgnc_id": 966,
"gene_symbol": "BBS1",
"hgvs_c": "c.1663_1665delGTGinsCTC",
"hgvs_p": "p.Val555Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000637389.1",
"strand": true,
"transcript": "ENST00000967330.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 578,
"aa_ref": "V",
"aa_start": 553,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3326,
"cdna_start": 1669,
"cds_end": null,
"cds_length": 1737,
"cds_start": 1657,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000933609.1",
"gene_hgnc_id": 966,
"gene_symbol": "BBS1",
"hgvs_c": "c.1657_1659delGTGinsCTC",
"hgvs_p": "p.Val553Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000603668.1",
"strand": true,
"transcript": "ENST00000933609.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 576,
"aa_ref": "V",
"aa_start": 551,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3317,
"cdna_start": 1676,
"cds_end": null,
"cds_length": 1731,
"cds_start": 1651,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000851738.1",
"gene_hgnc_id": 966,
"gene_symbol": "BBS1",
"hgvs_c": "c.1651_1653delGTGinsCTC",
"hgvs_p": "p.Val551Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000521797.1",
"strand": true,
"transcript": "ENST00000851738.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 573,
"aa_ref": "V",
"aa_start": 548,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3366,
"cdna_start": 1696,
"cds_end": null,
"cds_length": 1722,
"cds_start": 1642,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000851730.1",
"gene_hgnc_id": 966,
"gene_symbol": "BBS1",
"hgvs_c": "c.1642_1644delGTGinsCTC",
"hgvs_p": "p.Val548Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000521789.1",
"strand": true,
"transcript": "ENST00000851730.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 549,
"aa_ref": "V",
"aa_start": 524,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3250,
"cdna_start": 1591,
"cds_end": null,
"cds_length": 1650,
"cds_start": 1570,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000851735.1",
"gene_hgnc_id": 966,
"gene_symbol": "BBS1",
"hgvs_c": "c.1570_1572delGTGinsCTC",
"hgvs_p": "p.Val524Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000521794.1",
"strand": true,
"transcript": "ENST00000851735.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 548,
"aa_ref": "V",
"aa_start": 523,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3233,
"cdna_start": 1592,
"cds_end": null,
"cds_length": 1647,
"cds_start": 1567,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000851737.1",
"gene_hgnc_id": 966,
"gene_symbol": "BBS1",
"hgvs_c": "c.1567_1569delGTGinsCTC",
"hgvs_p": "p.Val523Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000521796.1",
"strand": true,
"transcript": "ENST00000851737.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 509,
"aa_ref": "V",
"aa_start": 484,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3130,
"cdna_start": 1475,
"cds_end": null,
"cds_length": 1530,
"cds_start": 1450,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000967327.1",
"gene_hgnc_id": 966,
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