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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: 12-21292266-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=21292266&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "SLCO1A2",
"hgnc_id": 10956,
"hgvs_c": "c.1508G>A",
"hgvs_p": "p.Gly503Glu",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_021094.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 7,
"alphamissense_prediction": null,
"alphamissense_score": 0.1055,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.39,
"chr": "12",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.1024496853351593,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 670,
"aa_ref": "G",
"aa_start": 503,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7114,
"cdna_start": 1661,
"cds_end": null,
"cds_length": 2013,
"cds_start": 1508,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001386879.1",
"gene_hgnc_id": 10956,
"gene_symbol": "SLCO1A2",
"hgvs_c": "c.1508G>A",
"hgvs_p": "p.Gly503Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000683939.1",
"protein_coding": true,
"protein_id": "NP_001373808.1",
"strand": false,
"transcript": "NM_001386879.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 670,
"aa_ref": "G",
"aa_start": 503,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 7114,
"cdna_start": 1661,
"cds_end": null,
"cds_length": 2013,
"cds_start": 1508,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000683939.1",
"gene_hgnc_id": 10956,
"gene_symbol": "SLCO1A2",
"hgvs_c": "c.1508G>A",
"hgvs_p": "p.Gly503Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001386879.1",
"protein_coding": true,
"protein_id": "ENSP00000508235.1",
"strand": false,
"transcript": "ENST00000683939.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 670,
"aa_ref": "G",
"aa_start": 503,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7682,
"cdna_start": 2229,
"cds_end": null,
"cds_length": 2013,
"cds_start": 1508,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000307378.10",
"gene_hgnc_id": 10956,
"gene_symbol": "SLCO1A2",
"hgvs_c": "c.1508G>A",
"hgvs_p": "p.Gly503Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000305974.6",
"strand": false,
"transcript": "ENST00000307378.10",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2322,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000544020.5",
"gene_hgnc_id": 10956,
"gene_symbol": "SLCO1A2",
"hgvs_c": "n.*1087G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000440154.1",
"strand": false,
"transcript": "ENST00000544020.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2322,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000544020.5",
"gene_hgnc_id": 10956,
"gene_symbol": "SLCO1A2",
"hgvs_c": "n.*1087G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000440154.1",
"strand": false,
"transcript": "ENST00000544020.5",
"transcript_support_level": 1
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 670,
"aa_ref": "G",
"aa_start": 503,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7256,
"cdna_start": 1803,
"cds_end": null,
"cds_length": 2013,
"cds_start": 1508,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001386878.1",
"gene_hgnc_id": 10956,
"gene_symbol": "SLCO1A2",
"hgvs_c": "c.1508G>A",
"hgvs_p": "p.Gly503Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001373807.1",
"strand": false,
"transcript": "NM_001386878.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 670,
"aa_ref": "G",
"aa_start": 503,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7109,
"cdna_start": 1656,
"cds_end": null,
"cds_length": 2013,
"cds_start": 1508,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001386880.1",
"gene_hgnc_id": 10956,
"gene_symbol": "SLCO1A2",
"hgvs_c": "c.1508G>A",
"hgvs_p": "p.Gly503Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001373809.1",
"strand": false,
"transcript": "NM_001386880.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 670,
"aa_ref": "G",
"aa_start": 503,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7309,
"cdna_start": 1856,
"cds_end": null,
"cds_length": 2013,
"cds_start": 1508,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_001386881.1",
"gene_hgnc_id": 10956,
"gene_symbol": "SLCO1A2",
"hgvs_c": "c.1508G>A",
"hgvs_p": "p.Gly503Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001373810.1",
"strand": false,
"transcript": "NM_001386881.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 670,
"aa_ref": "G",
"aa_start": 503,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7258,
"cdna_start": 1805,
"cds_end": null,
"cds_length": 2013,
"cds_start": 1508,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001386882.2",
"gene_hgnc_id": 10956,
"gene_symbol": "SLCO1A2",
"hgvs_c": "c.1508G>A",
"hgvs_p": "p.Gly503Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001373811.1",
"strand": false,
"transcript": "NM_001386882.2",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 670,
"aa_ref": "G",
"aa_start": 503,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7231,
"cdna_start": 1778,
"cds_end": null,
"cds_length": 2013,
"cds_start": 1508,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_021094.4",
"gene_hgnc_id": 10956,
"gene_symbol": "SLCO1A2",
"hgvs_c": "c.1508G>A",
"hgvs_p": "p.Gly503Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_066580.1",
"strand": false,
"transcript": "NM_021094.4",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 670,
"aa_ref": "G",
"aa_start": 503,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7750,
"cdna_start": 2297,
"cds_end": null,
"cds_length": 2013,
"cds_start": 1508,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_134431.5",
"gene_hgnc_id": 10956,
"gene_symbol": "SLCO1A2",
"hgvs_c": "c.1508G>A",
"hgvs_p": "p.Gly503Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_602307.1",
"strand": false,
"transcript": "NM_134431.5",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 670,
"aa_ref": "G",
"aa_start": 503,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2349,
"cdna_start": 1690,
"cds_end": null,
"cds_length": 2013,
"cds_start": 1508,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000938257.1",
"gene_hgnc_id": 10956,
"gene_symbol": "SLCO1A2",
"hgvs_c": "c.1508G>A",
"hgvs_p": "p.Gly503Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000608316.1",
"strand": false,
"transcript": "ENST00000938257.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 670,
"aa_ref": "G",
"aa_start": 503,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2784,
"cdna_start": 2125,
"cds_end": null,
"cds_length": 2013,
"cds_start": 1508,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000938258.1",
"gene_hgnc_id": 10956,
"gene_symbol": "SLCO1A2",
"hgvs_c": "c.1508G>A",
"hgvs_p": "p.Gly503Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000608317.1",
"strand": false,
"transcript": "ENST00000938258.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 670,
"aa_ref": "G",
"aa_start": 503,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2927,
"cdna_start": 1763,
"cds_end": null,
"cds_length": 2013,
"cds_start": 1508,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000938259.1",
"gene_hgnc_id": 10956,
"gene_symbol": "SLCO1A2",
"hgvs_c": "c.1508G>A",
"hgvs_p": "p.Gly503Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000608318.1",
"strand": false,
"transcript": "ENST00000938259.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 670,
"aa_ref": "G",
"aa_start": 503,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2373,
"cdna_start": 1715,
"cds_end": null,
"cds_length": 2013,
"cds_start": 1508,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000938261.1",
"gene_hgnc_id": 10956,
"gene_symbol": "SLCO1A2",
"hgvs_c": "c.1508G>A",
"hgvs_p": "p.Gly503Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000608320.1",
"strand": false,
"transcript": "ENST00000938261.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 668,
"aa_ref": "G",
"aa_start": 501,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7317,
"cdna_start": 1864,
"cds_end": null,
"cds_length": 2007,
"cds_start": 1502,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001386886.1",
"gene_hgnc_id": 10956,
"gene_symbol": "SLCO1A2",
"hgvs_c": "c.1502G>A",
"hgvs_p": "p.Gly501Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001373815.1",
"strand": false,
"transcript": "NM_001386886.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 668,
"aa_ref": "G",
"aa_start": 501,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7387,
"cdna_start": 1934,
"cds_end": null,
"cds_length": 2007,
"cds_start": 1502,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001386926.1",
"gene_hgnc_id": 10956,
"gene_symbol": "SLCO1A2",
"hgvs_c": "c.1502G>A",
"hgvs_p": "p.Gly501Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001373855.1",
"strand": false,
"transcript": "NM_001386926.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 668,
"aa_ref": "G",
"aa_start": 501,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7469,
"cdna_start": 2016,
"cds_end": null,
"cds_length": 2007,
"cds_start": 1502,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001386947.1",
"gene_hgnc_id": 10956,
"gene_symbol": "SLCO1A2",
"hgvs_c": "c.1502G>A",
"hgvs_p": "p.Gly501Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001373876.1",
"strand": false,
"transcript": "NM_001386947.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 668,
"aa_ref": "G",
"aa_start": 501,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7581,
"cdna_start": 2128,
"cds_end": null,
"cds_length": 2007,
"cds_start": 1502,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_001386949.1",
"gene_hgnc_id": 10956,
"gene_symbol": "SLCO1A2",
"hgvs_c": "c.1502G>A",
"hgvs_p": "p.Gly501Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001373878.1",
"strand": false,
"transcript": "NM_001386949.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 668,
"aa_ref": "G",
"aa_start": 501,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7275,
"cdna_start": 1822,
"cds_end": null,
"cds_length": 2007,
"cds_start": 1502,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001386960.1",
"gene_hgnc_id": 10956,
"gene_symbol": "SLCO1A2",
"hgvs_c": "c.1502G>A",
"hgvs_p": "p.Gly501Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001373889.1",
"strand": false,
"transcript": "NM_001386960.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 650,
"aa_ref": "G",
"aa_start": 483,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7067,
"cdna_start": 1614,
"cds_end": null,
"cds_length": 1953,
"cds_start": 1448,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001386948.1",
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