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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: 11-66532017-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=66532017&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 66532017,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_024649.5",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS1",
"gene_hgnc_id": 966,
"hgvs_c": "c.1762G>A",
"hgvs_p": "p.Glu588Lys",
"transcript": "NM_024649.5",
"protein_id": "NP_078925.3",
"transcript_support_level": null,
"aa_start": 588,
"aa_end": null,
"aa_length": 593,
"cds_start": 1762,
"cds_end": null,
"cds_length": 1782,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000318312.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_024649.5"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS1",
"gene_hgnc_id": 966,
"hgvs_c": "c.1762G>A",
"hgvs_p": "p.Glu588Lys",
"transcript": "ENST00000318312.12",
"protein_id": "ENSP00000317469.7",
"transcript_support_level": 1,
"aa_start": 588,
"aa_end": null,
"aa_length": 593,
"cds_start": 1762,
"cds_end": null,
"cds_length": 1782,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_024649.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000318312.12"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000256349",
"gene_hgnc_id": null,
"hgvs_c": "c.1873G>A",
"hgvs_p": "p.Glu625Lys",
"transcript": "ENST00000419755.3",
"protein_id": "ENSP00000398526.3",
"transcript_support_level": 2,
"aa_start": 625,
"aa_end": null,
"aa_length": 630,
"cds_start": 1873,
"cds_end": null,
"cds_length": 1893,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000419755.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS1",
"gene_hgnc_id": 966,
"hgvs_c": "c.*242G>A",
"hgvs_p": null,
"transcript": "ENST00000393994.4",
"protein_id": "ENSP00000377563.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 446,
"cds_start": null,
"cds_end": null,
"cds_length": 1341,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000393994.4"
},
{
"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": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ZDHHC24",
"gene_hgnc_id": 27387,
"hgvs_c": "c.560-2529C>T",
"hgvs_p": null,
"transcript": "ENST00000526986.5",
"protein_id": "ENSP00000431321.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 261,
"cds_start": null,
"cds_end": null,
"cds_length": 786,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000526986.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS1",
"gene_hgnc_id": 966,
"hgvs_c": "n.1941G>A",
"hgvs_p": null,
"transcript": "ENST00000529955.5",
"protein_id": null,
"transcript_support_level": 1,
"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": "retained_intron",
"feature": "ENST00000529955.5"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS1",
"gene_hgnc_id": 966,
"hgvs_c": "c.1888G>A",
"hgvs_p": "p.Glu630Lys",
"transcript": "ENST00000851739.1",
"protein_id": "ENSP00000521798.1",
"transcript_support_level": null,
"aa_start": 630,
"aa_end": null,
"aa_length": 635,
"cds_start": 1888,
"cds_end": null,
"cds_length": 1908,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851739.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS1",
"gene_hgnc_id": 966,
"hgvs_c": "c.1783G>A",
"hgvs_p": "p.Glu595Lys",
"transcript": "ENST00000851731.1",
"protein_id": "ENSP00000521790.1",
"transcript_support_level": null,
"aa_start": 595,
"aa_end": null,
"aa_length": 600,
"cds_start": 1783,
"cds_end": null,
"cds_length": 1803,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851731.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS1",
"gene_hgnc_id": 966,
"hgvs_c": "c.1774G>A",
"hgvs_p": "p.Glu592Lys",
"transcript": "ENST00000851734.1",
"protein_id": "ENSP00000521793.1",
"transcript_support_level": null,
"aa_start": 592,
"aa_end": null,
"aa_length": 597,
"cds_start": 1774,
"cds_end": null,
"cds_length": 1794,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851734.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS1",
"gene_hgnc_id": 966,
"hgvs_c": "c.1756G>A",
"hgvs_p": "p.Glu586Lys",
"transcript": "ENST00000967329.1",
"protein_id": "ENSP00000637388.1",
"transcript_support_level": null,
"aa_start": 586,
"aa_end": null,
"aa_length": 591,
"cds_start": 1756,
"cds_end": null,
"cds_length": 1776,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967329.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS1",
"gene_hgnc_id": 966,
"hgvs_c": "c.1753G>A",
"hgvs_p": "p.Glu585Lys",
"transcript": "ENST00000851740.1",
"protein_id": "ENSP00000521799.1",
"transcript_support_level": null,
"aa_start": 585,
"aa_end": null,
"aa_length": 590,
"cds_start": 1753,
"cds_end": null,
"cds_length": 1773,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851740.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS1",
"gene_hgnc_id": 966,
"hgvs_c": "c.1738G>A",
"hgvs_p": "p.Glu580Lys",
"transcript": "ENST00000851743.1",
"protein_id": "ENSP00000521802.1",
"transcript_support_level": null,
"aa_start": 580,
"aa_end": null,
"aa_length": 585,
"cds_start": 1738,
"cds_end": null,
"cds_length": 1758,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851743.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS1",
"gene_hgnc_id": 966,
"hgvs_c": "c.1732G>A",
"hgvs_p": "p.Glu578Lys",
"transcript": "ENST00000851741.1",
"protein_id": "ENSP00000521800.1",
"transcript_support_level": null,
"aa_start": 578,
"aa_end": null,
"aa_length": 583,
"cds_start": 1732,
"cds_end": null,
"cds_length": 1752,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851741.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS1",
"gene_hgnc_id": 966,
"hgvs_c": "c.1723G>A",
"hgvs_p": "p.Glu575Lys",
"transcript": "ENST00000967330.1",
"protein_id": "ENSP00000637389.1",
"transcript_support_level": null,
"aa_start": 575,
"aa_end": null,
"aa_length": 580,
"cds_start": 1723,
"cds_end": null,
"cds_length": 1743,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967330.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS1",
"gene_hgnc_id": 966,
"hgvs_c": "c.1717G>A",
"hgvs_p": "p.Glu573Lys",
"transcript": "ENST00000933609.1",
"protein_id": "ENSP00000603668.1",
"transcript_support_level": null,
"aa_start": 573,
"aa_end": null,
"aa_length": 578,
"cds_start": 1717,
"cds_end": null,
"cds_length": 1737,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933609.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS1",
"gene_hgnc_id": 966,
"hgvs_c": "c.1711G>A",
"hgvs_p": "p.Glu571Lys",
"transcript": "ENST00000851738.1",
"protein_id": "ENSP00000521797.1",
"transcript_support_level": null,
"aa_start": 571,
"aa_end": null,
"aa_length": 576,
"cds_start": 1711,
"cds_end": null,
"cds_length": 1731,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851738.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS1",
"gene_hgnc_id": 966,
"hgvs_c": "c.1702G>A",
"hgvs_p": "p.Glu568Lys",
"transcript": "ENST00000851730.1",
"protein_id": "ENSP00000521789.1",
"transcript_support_level": null,
"aa_start": 568,
"aa_end": null,
"aa_length": 573,
"cds_start": 1702,
"cds_end": null,
"cds_length": 1722,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851730.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS1",
"gene_hgnc_id": 966,
"hgvs_c": "c.1630G>A",
"hgvs_p": "p.Glu544Lys",
"transcript": "ENST00000851735.1",
"protein_id": "ENSP00000521794.1",
"transcript_support_level": null,
"aa_start": 544,
"aa_end": null,
"aa_length": 549,
"cds_start": 1630,
"cds_end": null,
"cds_length": 1650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851735.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS1",
"gene_hgnc_id": 966,
"hgvs_c": "c.1627G>A",
"hgvs_p": "p.Glu543Lys",
"transcript": "ENST00000851737.1",
"protein_id": "ENSP00000521796.1",
"transcript_support_level": null,
"aa_start": 543,
"aa_end": null,
"aa_length": 548,
"cds_start": 1627,
"cds_end": null,
"cds_length": 1647,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851737.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS1",
"gene_hgnc_id": 966,
"hgvs_c": "c.1510G>A",
"hgvs_p": "p.Glu504Lys",
"transcript": "ENST00000967327.1",
"protein_id": "ENSP00000637386.1",
"transcript_support_level": null,
"aa_start": 504,
"aa_end": null,
"aa_length": 509,
"cds_start": 1510,
"cds_end": null,
"cds_length": 1530,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967327.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS1",
"gene_hgnc_id": 966,
"hgvs_c": "c.1471G>A",
"hgvs_p": "p.Glu491Lys",
"transcript": "ENST00000455748.6",
"protein_id": "ENSP00000405764.2",
"transcript_support_level": 2,
"aa_start": 491,
"aa_end": null,
"aa_length": 496,
"cds_start": 1471,
"cds_end": null,
"cds_length": 1491,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000455748.6"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS1",
"gene_hgnc_id": 966,
"hgvs_c": "c.1375G>A",
"hgvs_p": "p.Glu459Lys",
"transcript": "ENST00000851733.1",
"protein_id": "ENSP00000521792.1",
"transcript_support_level": null,
"aa_start": 459,
"aa_end": null,
"aa_length": 464,
"cds_start": 1375,
"cds_end": null,
"cds_length": 1395,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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{
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],
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{
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"verdict": "Uncertain_significance",
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{
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"verdict": "Uncertain_significance",
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],
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"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:3",
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"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}