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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: 10-94947919-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=94947919&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP5"
],
"effects": [
"missense_variant"
],
"gene_symbol": "CYP2C9",
"hgnc_id": 2623,
"hgvs_c": "c.622T>G",
"hgvs_p": "p.Leu208Val",
"inheritance_mode": "AD",
"pathogenic_score": 3,
"score": 3,
"transcript": "NM_000771.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP5",
"acmg_score": 3,
"allele_count_reference_population": 0,
"alphamissense_prediction": "Benign",
"alphamissense_score": 0.1381,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.56,
"chr": "10",
"clinvar_classification": "Pathogenic",
"clinvar_disease": "Warfarin response",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.48870664834976196,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 490,
"aa_ref": "L",
"aa_start": 208,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2561,
"cdna_start": 647,
"cds_end": null,
"cds_length": 1473,
"cds_start": 622,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_000771.4",
"gene_hgnc_id": 2623,
"gene_symbol": "CYP2C9",
"hgvs_c": "c.622T>G",
"hgvs_p": "p.Leu208Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000260682.8",
"protein_coding": true,
"protein_id": "NP_000762.2",
"strand": true,
"transcript": "NM_000771.4",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 490,
"aa_ref": "L",
"aa_start": 208,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2561,
"cdna_start": 647,
"cds_end": null,
"cds_length": 1473,
"cds_start": 622,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000260682.8",
"gene_hgnc_id": 2623,
"gene_symbol": "CYP2C9",
"hgvs_c": "c.622T>G",
"hgvs_p": "p.Leu208Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000771.4",
"protein_coding": true,
"protein_id": "ENSP00000260682.6",
"strand": true,
"transcript": "ENST00000260682.8",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 497,
"aa_ref": "L",
"aa_start": 208,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2639,
"cdna_start": 703,
"cds_end": null,
"cds_length": 1494,
"cds_start": 622,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000880948.1",
"gene_hgnc_id": 2623,
"gene_symbol": "CYP2C9",
"hgvs_c": "c.622T>G",
"hgvs_p": "p.Leu208Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551007.1",
"strand": true,
"transcript": "ENST00000880948.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 497,
"aa_ref": "L",
"aa_start": 215,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1914,
"cdna_start": 701,
"cds_end": null,
"cds_length": 1494,
"cds_start": 643,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000880956.1",
"gene_hgnc_id": 2623,
"gene_symbol": "CYP2C9",
"hgvs_c": "c.643T>G",
"hgvs_p": "p.Leu215Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551015.1",
"strand": true,
"transcript": "ENST00000880956.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 489,
"aa_ref": "L",
"aa_start": 207,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1856,
"cdna_start": 644,
"cds_end": null,
"cds_length": 1470,
"cds_start": 619,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000880960.1",
"gene_hgnc_id": 2623,
"gene_symbol": "CYP2C9",
"hgvs_c": "c.619T>G",
"hgvs_p": "p.Leu207Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551019.1",
"strand": true,
"transcript": "ENST00000880960.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 489,
"aa_ref": "L",
"aa_start": 200,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1855,
"cdna_start": 623,
"cds_end": null,
"cds_length": 1470,
"cds_start": 598,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000880961.1",
"gene_hgnc_id": 2623,
"gene_symbol": "CYP2C9",
"hgvs_c": "c.598T>G",
"hgvs_p": "p.Leu200Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551020.1",
"strand": true,
"transcript": "ENST00000880961.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 488,
"aa_ref": "L",
"aa_start": 208,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2609,
"cdna_start": 700,
"cds_end": null,
"cds_length": 1467,
"cds_start": 622,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000880950.1",
"gene_hgnc_id": 2623,
"gene_symbol": "CYP2C9",
"hgvs_c": "c.622T>G",
"hgvs_p": "p.Leu208Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551009.1",
"strand": true,
"transcript": "ENST00000880950.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 488,
"aa_ref": "L",
"aa_start": 208,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1854,
"cdna_start": 647,
"cds_end": null,
"cds_length": 1467,
"cds_start": 622,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000880959.1",
"gene_hgnc_id": 2623,
"gene_symbol": "CYP2C9",
"hgvs_c": "c.622T>G",
"hgvs_p": "p.Leu208Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551018.1",
"strand": true,
"transcript": "ENST00000880959.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 487,
"aa_ref": "L",
"aa_start": 205,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1925,
"cdna_start": 708,
"cds_end": null,
"cds_length": 1464,
"cds_start": 613,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000880952.1",
"gene_hgnc_id": 2623,
"gene_symbol": "CYP2C9",
"hgvs_c": "c.613T>G",
"hgvs_p": "p.Leu205Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551011.1",
"strand": true,
"transcript": "ENST00000880952.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 482,
"aa_ref": "L",
"aa_start": 200,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2639,
"cdna_start": 671,
"cds_end": null,
"cds_length": 1449,
"cds_start": 598,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000880947.1",
"gene_hgnc_id": 2623,
"gene_symbol": "CYP2C9",
"hgvs_c": "c.598T>G",
"hgvs_p": "p.Leu200Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551006.1",
"strand": true,
"transcript": "ENST00000880947.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 481,
"aa_ref": "L",
"aa_start": 208,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1837,
"cdna_start": 647,
"cds_end": null,
"cds_length": 1446,
"cds_start": 622,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000880958.1",
"gene_hgnc_id": 2623,
"gene_symbol": "CYP2C9",
"hgvs_c": "c.622T>G",
"hgvs_p": "p.Leu208Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551017.1",
"strand": true,
"transcript": "ENST00000880958.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 460,
"aa_ref": "L",
"aa_start": 178,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1825,
"cdna_start": 612,
"cds_end": null,
"cds_length": 1383,
"cds_start": 532,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000880954.1",
"gene_hgnc_id": 2623,
"gene_symbol": "CYP2C9",
"hgvs_c": "c.532T>G",
"hgvs_p": "p.Leu178Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551013.1",
"strand": true,
"transcript": "ENST00000880954.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 447,
"aa_ref": "L",
"aa_start": 158,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1784,
"cdna_start": 552,
"cds_end": null,
"cds_length": 1344,
"cds_start": 472,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000880955.1",
"gene_hgnc_id": 2623,
"gene_symbol": "CYP2C9",
"hgvs_c": "c.472T>G",
"hgvs_p": "p.Leu158Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551014.1",
"strand": true,
"transcript": "ENST00000880955.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 445,
"aa_ref": "L",
"aa_start": 208,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1795,
"cdna_start": 717,
"cds_end": null,
"cds_length": 1338,
"cds_start": 622,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000880953.1",
"gene_hgnc_id": 2623,
"gene_symbol": "CYP2C9",
"hgvs_c": "c.622T>G",
"hgvs_p": "p.Leu208Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551012.1",
"strand": true,
"transcript": "ENST00000880953.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 440,
"aa_ref": "L",
"aa_start": 158,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2538,
"cdna_start": 567,
"cds_end": null,
"cds_length": 1323,
"cds_start": 472,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000880946.1",
"gene_hgnc_id": 2623,
"gene_symbol": "CYP2C9",
"hgvs_c": "c.472T>G",
"hgvs_p": "p.Leu158Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551005.1",
"strand": true,
"transcript": "ENST00000880946.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 431,
"aa_ref": "L",
"aa_start": 208,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1709,
"cdna_start": 678,
"cds_end": null,
"cds_length": 1296,
"cds_start": 622,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000880957.1",
"gene_hgnc_id": 2623,
"gene_symbol": "CYP2C9",
"hgvs_c": "c.622T>G",
"hgvs_p": "p.Leu208Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551016.1",
"strand": true,
"transcript": "ENST00000880957.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 380,
"aa_ref": "L",
"aa_start": 208,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2171,
"cdna_start": 651,
"cds_end": null,
"cds_length": 1143,
"cds_start": 622,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000880951.1",
"gene_hgnc_id": 2623,
"gene_symbol": "CYP2C9",
"hgvs_c": "c.622T>G",
"hgvs_p": "p.Leu208Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551010.1",
"strand": true,
"transcript": "ENST00000880951.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 330,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2135,
"cdna_start": null,
"cds_end": null,
"cds_length": 993,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000880949.1",
"gene_hgnc_id": 2623,
"gene_symbol": "CYP2C9",
"hgvs_c": "c.481+5578T>G",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551008.1",
"strand": true,
"transcript": "ENST00000880949.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 841,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000473496.1",
"gene_hgnc_id": 2623,
"gene_symbol": "CYP2C9",
"hgvs_c": "n.393T>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000473496.1",
"transcript_support_level": 2
},
{
"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": 1697,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000643112.1",
"gene_hgnc_id": 2623,
"gene_symbol": "CYP2C9",
"hgvs_c": "n.622T>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000496202.1",
"strand": true,
"transcript": "ENST00000643112.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 747,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000645207.1",
"gene_hgnc_id": 2623,
"gene_symbol": "CYP2C9",
"hgvs_c": "n.*28T>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
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}