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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: 12-122232267-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=122232267&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 7,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate",
"BP7"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "VPS33A",
"hgnc_id": 18179,
"hgvs_c": "c.1770T>C",
"hgvs_p": "p.Ala590Ala",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": -5,
"transcript": "NM_022916.6",
"verdict": "Likely_benign"
},
{
"benign_score": 6,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000256861",
"hgnc_id": null,
"hgvs_c": "n.1594+59T>C",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": -4,
"transcript": "ENST00000535844.1",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP6_Moderate,BP7",
"acmg_score": -5,
"allele_count_reference_population": 3,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.85,
"chr": "12",
"clinvar_classification": "Likely benign",
"clinvar_disease": "not provided",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.8500000238418579,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 596,
"aa_ref": "A",
"aa_start": 590,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4559,
"cdna_start": 1856,
"cds_end": null,
"cds_length": 1791,
"cds_start": 1770,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_022916.6",
"gene_hgnc_id": 18179,
"gene_symbol": "VPS33A",
"hgvs_c": "c.1770T>C",
"hgvs_p": "p.Ala590Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000267199.9",
"protein_coding": true,
"protein_id": "NP_075067.2",
"strand": false,
"transcript": "NM_022916.6",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 596,
"aa_ref": "A",
"aa_start": 590,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4559,
"cdna_start": 1856,
"cds_end": null,
"cds_length": 1791,
"cds_start": 1770,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000267199.9",
"gene_hgnc_id": 18179,
"gene_symbol": "VPS33A",
"hgvs_c": "c.1770T>C",
"hgvs_p": "p.Ala590Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_022916.6",
"protein_coding": true,
"protein_id": "ENSP00000267199.3",
"strand": false,
"transcript": "ENST00000267199.9",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": true,
"cdna_end": null,
"cdna_length": 2748,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000535844.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000256861",
"hgvs_c": "n.1594+59T>C",
"hgvs_p": null,
"intron_rank": 12,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000454454.1",
"strand": false,
"transcript": "ENST00000535844.1",
"transcript_support_level": 2
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 645,
"aa_ref": "A",
"aa_start": 639,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2323,
"cdna_start": 1942,
"cds_end": null,
"cds_length": 1938,
"cds_start": 1917,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000536212.3",
"gene_hgnc_id": 18179,
"gene_symbol": "VPS33A",
"hgvs_c": "c.1917T>C",
"hgvs_p": "p.Ala639Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000439255.3",
"strand": false,
"transcript": "ENST00000536212.3",
"transcript_support_level": 4
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 637,
"aa_ref": "A",
"aa_start": 631,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2299,
"cdna_start": 1918,
"cds_end": null,
"cds_length": 1914,
"cds_start": 1893,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000643696.1",
"gene_hgnc_id": 18179,
"gene_symbol": "VPS33A",
"hgvs_c": "c.1893T>C",
"hgvs_p": "p.Ala631Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000494935.1",
"strand": false,
"transcript": "ENST00000643696.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 605,
"aa_ref": "A",
"aa_start": 599,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2537,
"cdna_start": 1820,
"cds_end": null,
"cds_length": 1818,
"cds_start": 1797,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000932487.1",
"gene_hgnc_id": 18179,
"gene_symbol": "VPS33A",
"hgvs_c": "c.1797T>C",
"hgvs_p": "p.Ala599Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000602546.1",
"strand": false,
"transcript": "ENST00000932487.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 604,
"aa_ref": "A",
"aa_start": 598,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2589,
"cdna_start": 1872,
"cds_end": null,
"cds_length": 1815,
"cds_start": 1794,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000883791.1",
"gene_hgnc_id": 18179,
"gene_symbol": "VPS33A",
"hgvs_c": "c.1794T>C",
"hgvs_p": "p.Ala598Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553850.1",
"strand": false,
"transcript": "ENST00000883791.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 589,
"aa_ref": "A",
"aa_start": 583,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4511,
"cdna_start": 1823,
"cds_end": null,
"cds_length": 1770,
"cds_start": 1749,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000714045.1",
"gene_hgnc_id": 18179,
"gene_symbol": "VPS33A",
"hgvs_c": "c.1749T>C",
"hgvs_p": "p.Ala583Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000519336.1",
"strand": false,
"transcript": "ENST00000714045.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 585,
"aa_ref": "A",
"aa_start": 579,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4789,
"cdna_start": 2086,
"cds_end": null,
"cds_length": 1758,
"cds_start": 1737,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001351018.2",
"gene_hgnc_id": 18179,
"gene_symbol": "VPS33A",
"hgvs_c": "c.1737T>C",
"hgvs_p": "p.Ala579Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001337947.1",
"strand": false,
"transcript": "NM_001351018.2",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 580,
"aa_ref": "A",
"aa_start": 574,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4871,
"cdna_start": 2168,
"cds_end": null,
"cds_length": 1743,
"cds_start": 1722,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001351019.2",
"gene_hgnc_id": 18179,
"gene_symbol": "VPS33A",
"hgvs_c": "c.1722T>C",
"hgvs_p": "p.Ala574Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001337948.1",
"strand": false,
"transcript": "NM_001351019.2",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 550,
"aa_ref": "A",
"aa_start": 544,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2444,
"cdna_start": 1724,
"cds_end": null,
"cds_length": 1653,
"cds_start": 1632,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000883790.1",
"gene_hgnc_id": 18179,
"gene_symbol": "VPS33A",
"hgvs_c": "c.1632T>C",
"hgvs_p": "p.Ala544Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553849.1",
"strand": false,
"transcript": "ENST00000883790.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 550,
"aa_ref": "A",
"aa_start": 544,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4426,
"cdna_start": 1726,
"cds_end": null,
"cds_length": 1653,
"cds_start": 1632,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000932481.1",
"gene_hgnc_id": 18179,
"gene_symbol": "VPS33A",
"hgvs_c": "c.1632T>C",
"hgvs_p": "p.Ala544Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000602540.1",
"strand": false,
"transcript": "ENST00000932481.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 534,
"aa_ref": "A",
"aa_start": 528,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4614,
"cdna_start": 1916,
"cds_end": null,
"cds_length": 1605,
"cds_start": 1584,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000714042.1",
"gene_hgnc_id": 18179,
"gene_symbol": "VPS33A",
"hgvs_c": "c.1584T>C",
"hgvs_p": "p.Ala528Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000519333.1",
"strand": false,
"transcript": "ENST00000714042.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 534,
"aa_ref": "A",
"aa_start": 528,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4685,
"cdna_start": 1992,
"cds_end": null,
"cds_length": 1605,
"cds_start": 1584,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000714043.1",
"gene_hgnc_id": 18179,
"gene_symbol": "VPS33A",
"hgvs_c": "c.1584T>C",
"hgvs_p": "p.Ala528Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000519334.1",
"strand": false,
"transcript": "ENST00000714043.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 531,
"aa_ref": "A",
"aa_start": 525,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2324,
"cdna_start": 1608,
"cds_end": null,
"cds_length": 1596,
"cds_start": 1575,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000932486.1",
"gene_hgnc_id": 18179,
"gene_symbol": "VPS33A",
"hgvs_c": "c.1575T>C",
"hgvs_p": "p.Ala525Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000602545.1",
"strand": false,
"transcript": "ENST00000932486.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 511,
"aa_ref": "A",
"aa_start": 505,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1714,
"cdna_start": 1543,
"cds_end": null,
"cds_length": 1536,
"cds_start": 1515,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000932488.1",
"gene_hgnc_id": 18179,
"gene_symbol": "VPS33A",
"hgvs_c": "c.1515T>C",
"hgvs_p": "p.Ala505Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000602547.1",
"strand": false,
"transcript": "ENST00000932488.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 504,
"aa_ref": "A",
"aa_start": 498,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2247,
"cdna_start": 1527,
"cds_end": null,
"cds_length": 1515,
"cds_start": 1494,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000932483.1",
"gene_hgnc_id": 18179,
"gene_symbol": "VPS33A",
"hgvs_c": "c.1494T>C",
"hgvs_p": "p.Ala498Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000602542.1",
"strand": false,
"transcript": "ENST00000932483.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 497,
"aa_ref": "A",
"aa_start": 491,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1655,
"cdna_start": 1484,
"cds_end": null,
"cds_length": 1494,
"cds_start": 1473,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000932489.1",
"gene_hgnc_id": 18179,
"gene_symbol": "VPS33A",
"hgvs_c": "c.1473T>C",
"hgvs_p": "p.Ala491Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000602548.1",
"strand": false,
"transcript": "ENST00000932489.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 489,
"aa_ref": "A",
"aa_start": 483,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4238,
"cdna_start": 1535,
"cds_end": null,
"cds_length": 1470,
"cds_start": 1449,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001351020.2",
"gene_hgnc_id": 18179,
"gene_symbol": "VPS33A",
"hgvs_c": "c.1449T>C",
"hgvs_p": "p.Ala483Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001337949.1",
"strand": false,
"transcript": "NM_001351020.2",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 489,
"aa_ref": "A",
"aa_start": 483,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4234,
"cdna_start": 1531,
"cds_end": null,
"cds_length": 1470,
"cds_start": 1449,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000883789.1",
"gene_hgnc_id": 18179,
"gene_symbol": "VPS33A",
"hgvs_c": "c.1449T>C",
"hgvs_p": "p.Ala483Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553848.1",
"strand": false,
"transcript": "ENST00000883789.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 485,
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}