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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: 12-122232420-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=122232420&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 122232420,
"ref": "C",
"alt": "G",
"effect": "synonymous_variant",
"transcript": "NM_022916.6",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS33A",
"gene_hgnc_id": 18179,
"hgvs_c": "c.1617G>C",
"hgvs_p": "p.Pro539Pro",
"transcript": "NM_022916.6",
"protein_id": "NP_075067.2",
"transcript_support_level": null,
"aa_start": 539,
"aa_end": null,
"aa_length": 596,
"cds_start": 1617,
"cds_end": null,
"cds_length": 1791,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000267199.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_022916.6"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS33A",
"gene_hgnc_id": 18179,
"hgvs_c": "c.1617G>C",
"hgvs_p": "p.Pro539Pro",
"transcript": "ENST00000267199.9",
"protein_id": "ENSP00000267199.3",
"transcript_support_level": 1,
"aa_start": 539,
"aa_end": null,
"aa_length": 596,
"cds_start": 1617,
"cds_end": null,
"cds_length": 1791,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_022916.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000267199.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000256861",
"gene_hgnc_id": null,
"hgvs_c": "n.1500G>C",
"hgvs_p": null,
"transcript": "ENST00000535844.1",
"protein_id": "ENSP00000454454.1",
"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": "ENST00000535844.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS33A",
"gene_hgnc_id": 18179,
"hgvs_c": "c.1764G>C",
"hgvs_p": "p.Pro588Pro",
"transcript": "ENST00000536212.3",
"protein_id": "ENSP00000439255.3",
"transcript_support_level": 4,
"aa_start": 588,
"aa_end": null,
"aa_length": 645,
"cds_start": 1764,
"cds_end": null,
"cds_length": 1938,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000536212.3"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS33A",
"gene_hgnc_id": 18179,
"hgvs_c": "c.1740G>C",
"hgvs_p": "p.Pro580Pro",
"transcript": "ENST00000643696.1",
"protein_id": "ENSP00000494935.1",
"transcript_support_level": null,
"aa_start": 580,
"aa_end": null,
"aa_length": 637,
"cds_start": 1740,
"cds_end": null,
"cds_length": 1914,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000643696.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS33A",
"gene_hgnc_id": 18179,
"hgvs_c": "c.1644G>C",
"hgvs_p": "p.Pro548Pro",
"transcript": "ENST00000932487.1",
"protein_id": "ENSP00000602546.1",
"transcript_support_level": null,
"aa_start": 548,
"aa_end": null,
"aa_length": 605,
"cds_start": 1644,
"cds_end": null,
"cds_length": 1818,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932487.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS33A",
"gene_hgnc_id": 18179,
"hgvs_c": "c.1641G>C",
"hgvs_p": "p.Pro547Pro",
"transcript": "ENST00000883791.1",
"protein_id": "ENSP00000553850.1",
"transcript_support_level": null,
"aa_start": 547,
"aa_end": null,
"aa_length": 604,
"cds_start": 1641,
"cds_end": null,
"cds_length": 1815,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883791.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS33A",
"gene_hgnc_id": 18179,
"hgvs_c": "c.1596G>C",
"hgvs_p": "p.Pro532Pro",
"transcript": "ENST00000714045.1",
"protein_id": "ENSP00000519336.1",
"transcript_support_level": null,
"aa_start": 532,
"aa_end": null,
"aa_length": 589,
"cds_start": 1596,
"cds_end": null,
"cds_length": 1770,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000714045.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS33A",
"gene_hgnc_id": 18179,
"hgvs_c": "c.1584G>C",
"hgvs_p": "p.Pro528Pro",
"transcript": "NM_001351018.2",
"protein_id": "NP_001337947.1",
"transcript_support_level": null,
"aa_start": 528,
"aa_end": null,
"aa_length": 585,
"cds_start": 1584,
"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": "NM_001351018.2"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS33A",
"gene_hgnc_id": 18179,
"hgvs_c": "c.1569G>C",
"hgvs_p": "p.Pro523Pro",
"transcript": "NM_001351019.2",
"protein_id": "NP_001337948.1",
"transcript_support_level": null,
"aa_start": 523,
"aa_end": null,
"aa_length": 580,
"cds_start": 1569,
"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": "NM_001351019.2"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS33A",
"gene_hgnc_id": 18179,
"hgvs_c": "c.1479G>C",
"hgvs_p": "p.Pro493Pro",
"transcript": "ENST00000883790.1",
"protein_id": "ENSP00000553849.1",
"transcript_support_level": null,
"aa_start": 493,
"aa_end": null,
"aa_length": 550,
"cds_start": 1479,
"cds_end": null,
"cds_length": 1653,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883790.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS33A",
"gene_hgnc_id": 18179,
"hgvs_c": "c.1479G>C",
"hgvs_p": "p.Pro493Pro",
"transcript": "ENST00000932481.1",
"protein_id": "ENSP00000602540.1",
"transcript_support_level": null,
"aa_start": 493,
"aa_end": null,
"aa_length": 550,
"cds_start": 1479,
"cds_end": null,
"cds_length": 1653,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932481.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS33A",
"gene_hgnc_id": 18179,
"hgvs_c": "c.1431G>C",
"hgvs_p": "p.Pro477Pro",
"transcript": "ENST00000714042.1",
"protein_id": "ENSP00000519333.1",
"transcript_support_level": null,
"aa_start": 477,
"aa_end": null,
"aa_length": 534,
"cds_start": 1431,
"cds_end": null,
"cds_length": 1605,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000714042.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS33A",
"gene_hgnc_id": 18179,
"hgvs_c": "c.1431G>C",
"hgvs_p": "p.Pro477Pro",
"transcript": "ENST00000714043.1",
"protein_id": "ENSP00000519334.1",
"transcript_support_level": null,
"aa_start": 477,
"aa_end": null,
"aa_length": 534,
"cds_start": 1431,
"cds_end": null,
"cds_length": 1605,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000714043.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS33A",
"gene_hgnc_id": 18179,
"hgvs_c": "c.1422G>C",
"hgvs_p": "p.Pro474Pro",
"transcript": "ENST00000932486.1",
"protein_id": "ENSP00000602545.1",
"transcript_support_level": null,
"aa_start": 474,
"aa_end": null,
"aa_length": 531,
"cds_start": 1422,
"cds_end": null,
"cds_length": 1596,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932486.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS33A",
"gene_hgnc_id": 18179,
"hgvs_c": "c.1362G>C",
"hgvs_p": "p.Pro454Pro",
"transcript": "ENST00000932488.1",
"protein_id": "ENSP00000602547.1",
"transcript_support_level": null,
"aa_start": 454,
"aa_end": null,
"aa_length": 511,
"cds_start": 1362,
"cds_end": null,
"cds_length": 1536,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932488.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS33A",
"gene_hgnc_id": 18179,
"hgvs_c": "c.1341G>C",
"hgvs_p": "p.Pro447Pro",
"transcript": "ENST00000932483.1",
"protein_id": "ENSP00000602542.1",
"transcript_support_level": null,
"aa_start": 447,
"aa_end": null,
"aa_length": 504,
"cds_start": 1341,
"cds_end": null,
"cds_length": 1515,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932483.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS33A",
"gene_hgnc_id": 18179,
"hgvs_c": "c.1320G>C",
"hgvs_p": "p.Pro440Pro",
"transcript": "ENST00000932489.1",
"protein_id": "ENSP00000602548.1",
"transcript_support_level": null,
"aa_start": 440,
"aa_end": null,
"aa_length": 497,
"cds_start": 1320,
"cds_end": null,
"cds_length": 1494,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932489.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS33A",
"gene_hgnc_id": 18179,
"hgvs_c": "c.1296G>C",
"hgvs_p": "p.Pro432Pro",
"transcript": "NM_001351020.2",
"protein_id": "NP_001337949.1",
"transcript_support_level": null,
"aa_start": 432,
"aa_end": null,
"aa_length": 489,
"cds_start": 1296,
"cds_end": null,
"cds_length": 1470,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351020.2"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS33A",
"gene_hgnc_id": 18179,
"hgvs_c": "c.1296G>C",
"hgvs_p": "p.Pro432Pro",
"transcript": "ENST00000883789.1",
"protein_id": "ENSP00000553848.1",
"transcript_support_level": null,
"aa_start": 432,
"aa_end": null,
"aa_length": 489,
"cds_start": 1296,
"cds_end": null,
"cds_length": 1470,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883789.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS33A",
"gene_hgnc_id": 18179,
"hgvs_c": "c.1284G>C",
"hgvs_p": "p.Pro428Pro",
"transcript": "ENST00000932484.1",
"protein_id": "ENSP00000602543.1",
"transcript_support_level": null,
"aa_start": 428,
"aa_end": null,
"aa_length": 485,
"cds_start": 1284,
"cds_end": null,
"cds_length": 1458,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932484.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS33A",
"gene_hgnc_id": 18179,
"hgvs_c": "c.1158G>C",
"hgvs_p": "p.Pro386Pro",
"transcript": "ENST00000541169.2",
"protein_id": "ENSP00000495062.2",
"transcript_support_level": 4,
"aa_start": 386,
"aa_end": null,
"aa_length": 443,
"cds_start": 1158,
"cds_end": null,
"cds_length": 1332,
"cdna_start": null,
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"cdna_length": null,
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{
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"BP7"
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"verdict": "Likely_benign",
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{
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"verdict": "Likely_benign",
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],
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"clinvar_review_status": "",
"clinvar_submissions_summary": "",
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"custom_annotations": null
}
],
"message": null
}