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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: 11-66529892-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=66529892&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 66529892,
"ref": "C",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "NM_024649.5",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS1",
"gene_hgnc_id": 966,
"hgvs_c": "c.1413C>A",
"hgvs_p": "p.Leu471Leu",
"transcript": "NM_024649.5",
"protein_id": "NP_078925.3",
"transcript_support_level": null,
"aa_start": 471,
"aa_end": null,
"aa_length": 593,
"cds_start": 1413,
"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": "L",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS1",
"gene_hgnc_id": 966,
"hgvs_c": "c.1413C>A",
"hgvs_p": "p.Leu471Leu",
"transcript": "ENST00000318312.12",
"protein_id": "ENSP00000317469.7",
"transcript_support_level": 1,
"aa_start": 471,
"aa_end": null,
"aa_length": 593,
"cds_start": 1413,
"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": "L",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000256349",
"gene_hgnc_id": null,
"hgvs_c": "c.1524C>A",
"hgvs_p": "p.Leu508Leu",
"transcript": "ENST00000419755.3",
"protein_id": "ENSP00000398526.3",
"transcript_support_level": 2,
"aa_start": 508,
"aa_end": null,
"aa_length": 630,
"cds_start": 1524,
"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": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS1",
"gene_hgnc_id": 966,
"hgvs_c": "c.1026C>A",
"hgvs_p": "p.Leu342Leu",
"transcript": "ENST00000393994.4",
"protein_id": "ENSP00000377563.2",
"transcript_support_level": 1,
"aa_start": 342,
"aa_end": null,
"aa_length": 446,
"cds_start": 1026,
"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.560-404G>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": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS1",
"gene_hgnc_id": 966,
"hgvs_c": "n.1384C>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": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS1",
"gene_hgnc_id": 966,
"hgvs_c": "c.1539C>A",
"hgvs_p": "p.Leu513Leu",
"transcript": "ENST00000851739.1",
"protein_id": "ENSP00000521798.1",
"transcript_support_level": null,
"aa_start": 513,
"aa_end": null,
"aa_length": 635,
"cds_start": 1539,
"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": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS1",
"gene_hgnc_id": 966,
"hgvs_c": "c.1434C>A",
"hgvs_p": "p.Leu478Leu",
"transcript": "ENST00000851731.1",
"protein_id": "ENSP00000521790.1",
"transcript_support_level": null,
"aa_start": 478,
"aa_end": null,
"aa_length": 600,
"cds_start": 1434,
"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": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS1",
"gene_hgnc_id": 966,
"hgvs_c": "c.1413C>A",
"hgvs_p": "p.Leu471Leu",
"transcript": "ENST00000851734.1",
"protein_id": "ENSP00000521793.1",
"transcript_support_level": null,
"aa_start": 471,
"aa_end": null,
"aa_length": 597,
"cds_start": 1413,
"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": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS1",
"gene_hgnc_id": 966,
"hgvs_c": "c.1407C>A",
"hgvs_p": "p.Leu469Leu",
"transcript": "ENST00000967329.1",
"protein_id": "ENSP00000637388.1",
"transcript_support_level": null,
"aa_start": 469,
"aa_end": null,
"aa_length": 591,
"cds_start": 1407,
"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": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS1",
"gene_hgnc_id": 966,
"hgvs_c": "c.1404C>A",
"hgvs_p": "p.Leu468Leu",
"transcript": "ENST00000851740.1",
"protein_id": "ENSP00000521799.1",
"transcript_support_level": null,
"aa_start": 468,
"aa_end": null,
"aa_length": 590,
"cds_start": 1404,
"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": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS1",
"gene_hgnc_id": 966,
"hgvs_c": "c.1389C>A",
"hgvs_p": "p.Leu463Leu",
"transcript": "ENST00000851743.1",
"protein_id": "ENSP00000521802.1",
"transcript_support_level": null,
"aa_start": 463,
"aa_end": null,
"aa_length": 585,
"cds_start": 1389,
"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": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS1",
"gene_hgnc_id": 966,
"hgvs_c": "c.1383C>A",
"hgvs_p": "p.Leu461Leu",
"transcript": "ENST00000851741.1",
"protein_id": "ENSP00000521800.1",
"transcript_support_level": null,
"aa_start": 461,
"aa_end": null,
"aa_length": 583,
"cds_start": 1383,
"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": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS1",
"gene_hgnc_id": 966,
"hgvs_c": "c.1374C>A",
"hgvs_p": "p.Leu458Leu",
"transcript": "ENST00000967330.1",
"protein_id": "ENSP00000637389.1",
"transcript_support_level": null,
"aa_start": 458,
"aa_end": null,
"aa_length": 580,
"cds_start": 1374,
"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": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS1",
"gene_hgnc_id": 966,
"hgvs_c": "c.1413C>A",
"hgvs_p": "p.Leu471Leu",
"transcript": "ENST00000933609.1",
"protein_id": "ENSP00000603668.1",
"transcript_support_level": null,
"aa_start": 471,
"aa_end": null,
"aa_length": 578,
"cds_start": 1413,
"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": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS1",
"gene_hgnc_id": 966,
"hgvs_c": "c.1362C>A",
"hgvs_p": "p.Leu454Leu",
"transcript": "ENST00000851738.1",
"protein_id": "ENSP00000521797.1",
"transcript_support_level": null,
"aa_start": 454,
"aa_end": null,
"aa_length": 576,
"cds_start": 1362,
"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": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS1",
"gene_hgnc_id": 966,
"hgvs_c": "c.1353C>A",
"hgvs_p": "p.Leu451Leu",
"transcript": "ENST00000851730.1",
"protein_id": "ENSP00000521789.1",
"transcript_support_level": null,
"aa_start": 451,
"aa_end": null,
"aa_length": 573,
"cds_start": 1353,
"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": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS1",
"gene_hgnc_id": 966,
"hgvs_c": "c.1281C>A",
"hgvs_p": "p.Leu427Leu",
"transcript": "ENST00000851735.1",
"protein_id": "ENSP00000521794.1",
"transcript_support_level": null,
"aa_start": 427,
"aa_end": null,
"aa_length": 549,
"cds_start": 1281,
"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": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS1",
"gene_hgnc_id": 966,
"hgvs_c": "c.1278C>A",
"hgvs_p": "p.Leu426Leu",
"transcript": "ENST00000851737.1",
"protein_id": "ENSP00000521796.1",
"transcript_support_level": null,
"aa_start": 426,
"aa_end": null,
"aa_length": 548,
"cds_start": 1278,
"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": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS1",
"gene_hgnc_id": 966,
"hgvs_c": "c.1161C>A",
"hgvs_p": "p.Leu387Leu",
"transcript": "ENST00000967327.1",
"protein_id": "ENSP00000637386.1",
"transcript_support_level": null,
"aa_start": 387,
"aa_end": null,
"aa_length": 509,
"cds_start": 1161,
"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": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS1",
"gene_hgnc_id": 966,
"hgvs_c": "c.1122C>A",
"hgvs_p": "p.Leu374Leu",
"transcript": "ENST00000455748.6",
"protein_id": "ENSP00000405764.2",
"transcript_support_level": 2,
"aa_start": 374,
"aa_end": null,
"aa_length": 496,
"cds_start": 1122,
"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": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS1",
"gene_hgnc_id": 966,
"hgvs_c": "c.1026C>A",
"hgvs_p": "p.Leu342Leu",
"transcript": "ENST00000851733.1",
"protein_id": "ENSP00000521792.1",
"transcript_support_level": null,
"aa_start": 342,
"aa_end": null,
"aa_length": 464,
"cds_start": 1026,
"cds_end": null,
"cds_length": 1395,
"cdna_start": null,
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],
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}