← Back to variant description
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: 10-94986073-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=94986073&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "CYP2C9",
"hgnc_id": 2623,
"hgvs_c": "c.1190A>G",
"hgvs_p": "p.Asp397Gly",
"inheritance_mode": "AD",
"pathogenic_score": 6,
"score": 6,
"transcript": "NM_000771.4",
"verdict": "Likely_pathogenic"
}
],
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong",
"acmg_score": 6,
"allele_count_reference_population": 1,
"alphamissense_prediction": "Benign",
"alphamissense_score": 0.2604,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": -0.01,
"chr": "10",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.9847444295883179,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 490,
"aa_ref": "D",
"aa_start": 397,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2561,
"cdna_start": 1215,
"cds_end": null,
"cds_length": 1473,
"cds_start": 1190,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_000771.4",
"gene_hgnc_id": 2623,
"gene_symbol": "CYP2C9",
"hgvs_c": "c.1190A>G",
"hgvs_p": "p.Asp397Gly",
"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": "G",
"aa_end": null,
"aa_length": 490,
"aa_ref": "D",
"aa_start": 397,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2561,
"cdna_start": 1215,
"cds_end": null,
"cds_length": 1473,
"cds_start": 1190,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000260682.8",
"gene_hgnc_id": 2623,
"gene_symbol": "CYP2C9",
"hgvs_c": "c.1190A>G",
"hgvs_p": "p.Asp397Gly",
"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": "G",
"aa_end": null,
"aa_length": 497,
"aa_ref": "D",
"aa_start": 404,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2639,
"cdna_start": 1292,
"cds_end": null,
"cds_length": 1494,
"cds_start": 1211,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000880948.1",
"gene_hgnc_id": 2623,
"gene_symbol": "CYP2C9",
"hgvs_c": "c.1211A>G",
"hgvs_p": "p.Asp404Gly",
"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": "G",
"aa_end": null,
"aa_length": 497,
"aa_ref": "D",
"aa_start": 404,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1914,
"cdna_start": 1269,
"cds_end": null,
"cds_length": 1494,
"cds_start": 1211,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000880956.1",
"gene_hgnc_id": 2623,
"gene_symbol": "CYP2C9",
"hgvs_c": "c.1211A>G",
"hgvs_p": "p.Asp404Gly",
"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": "G",
"aa_end": null,
"aa_length": 489,
"aa_ref": "D",
"aa_start": 396,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1856,
"cdna_start": 1212,
"cds_end": null,
"cds_length": 1470,
"cds_start": 1187,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000880960.1",
"gene_hgnc_id": 2623,
"gene_symbol": "CYP2C9",
"hgvs_c": "c.1187A>G",
"hgvs_p": "p.Asp396Gly",
"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": "G",
"aa_end": null,
"aa_length": 489,
"aa_ref": "D",
"aa_start": 396,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1855,
"cdna_start": 1212,
"cds_end": null,
"cds_length": 1470,
"cds_start": 1187,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000880961.1",
"gene_hgnc_id": 2623,
"gene_symbol": "CYP2C9",
"hgvs_c": "c.1187A>G",
"hgvs_p": "p.Asp396Gly",
"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": "G",
"aa_end": null,
"aa_length": 488,
"aa_ref": "D",
"aa_start": 395,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2609,
"cdna_start": 1262,
"cds_end": null,
"cds_length": 1467,
"cds_start": 1184,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000880950.1",
"gene_hgnc_id": 2623,
"gene_symbol": "CYP2C9",
"hgvs_c": "c.1184A>G",
"hgvs_p": "p.Asp395Gly",
"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": "G",
"aa_end": null,
"aa_length": 488,
"aa_ref": "D",
"aa_start": 395,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1854,
"cdna_start": 1209,
"cds_end": null,
"cds_length": 1467,
"cds_start": 1184,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000880959.1",
"gene_hgnc_id": 2623,
"gene_symbol": "CYP2C9",
"hgvs_c": "c.1184A>G",
"hgvs_p": "p.Asp395Gly",
"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": "G",
"aa_end": null,
"aa_length": 487,
"aa_ref": "D",
"aa_start": 394,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1925,
"cdna_start": 1276,
"cds_end": null,
"cds_length": 1464,
"cds_start": 1181,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000880952.1",
"gene_hgnc_id": 2623,
"gene_symbol": "CYP2C9",
"hgvs_c": "c.1181A>G",
"hgvs_p": "p.Asp394Gly",
"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": "G",
"aa_end": null,
"aa_length": 482,
"aa_ref": "D",
"aa_start": 389,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2639,
"cdna_start": 1239,
"cds_end": null,
"cds_length": 1449,
"cds_start": 1166,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000880947.1",
"gene_hgnc_id": 2623,
"gene_symbol": "CYP2C9",
"hgvs_c": "c.1166A>G",
"hgvs_p": "p.Asp389Gly",
"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": "G",
"aa_end": null,
"aa_length": 481,
"aa_ref": "D",
"aa_start": 397,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1837,
"cdna_start": 1215,
"cds_end": null,
"cds_length": 1446,
"cds_start": 1190,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000880958.1",
"gene_hgnc_id": 2623,
"gene_symbol": "CYP2C9",
"hgvs_c": "c.1190A>G",
"hgvs_p": "p.Asp397Gly",
"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": "G",
"aa_end": null,
"aa_length": 460,
"aa_ref": "D",
"aa_start": 367,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1825,
"cdna_start": 1180,
"cds_end": null,
"cds_length": 1383,
"cds_start": 1100,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000880954.1",
"gene_hgnc_id": 2623,
"gene_symbol": "CYP2C9",
"hgvs_c": "c.1100A>G",
"hgvs_p": "p.Asp367Gly",
"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": "G",
"aa_end": null,
"aa_length": 447,
"aa_ref": "D",
"aa_start": 354,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1784,
"cdna_start": 1141,
"cds_end": null,
"cds_length": 1344,
"cds_start": 1061,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000880955.1",
"gene_hgnc_id": 2623,
"gene_symbol": "CYP2C9",
"hgvs_c": "c.1061A>G",
"hgvs_p": "p.Asp354Gly",
"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": "G",
"aa_end": null,
"aa_length": 445,
"aa_ref": "D",
"aa_start": 352,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1795,
"cdna_start": 1150,
"cds_end": null,
"cds_length": 1338,
"cds_start": 1055,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000880953.1",
"gene_hgnc_id": 2623,
"gene_symbol": "CYP2C9",
"hgvs_c": "c.1055A>G",
"hgvs_p": "p.Asp352Gly",
"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": "G",
"aa_end": null,
"aa_length": 440,
"aa_ref": "D",
"aa_start": 347,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2538,
"cdna_start": 1135,
"cds_end": null,
"cds_length": 1323,
"cds_start": 1040,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000880946.1",
"gene_hgnc_id": 2623,
"gene_symbol": "CYP2C9",
"hgvs_c": "c.1040A>G",
"hgvs_p": "p.Asp347Gly",
"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": "G",
"aa_end": null,
"aa_length": 431,
"aa_ref": "D",
"aa_start": 338,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1709,
"cdna_start": 1069,
"cds_end": null,
"cds_length": 1296,
"cds_start": 1013,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000880957.1",
"gene_hgnc_id": 2623,
"gene_symbol": "CYP2C9",
"hgvs_c": "c.1013A>G",
"hgvs_p": "p.Asp338Gly",
"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": "G",
"aa_end": null,
"aa_length": 380,
"aa_ref": "D",
"aa_start": 287,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2171,
"cdna_start": 889,
"cds_end": null,
"cds_length": 1143,
"cds_start": 860,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000880951.1",
"gene_hgnc_id": 2623,
"gene_symbol": "CYP2C9",
"hgvs_c": "c.860A>G",
"hgvs_p": "p.Asp287Gly",
"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": "G",
"aa_end": null,
"aa_length": 330,
"aa_ref": "D",
"aa_start": 237,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2135,
"cdna_start": 735,
"cds_end": null,
"cds_length": 993,
"cds_start": 710,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000880949.1",
"gene_hgnc_id": 2623,
"gene_symbol": "CYP2C9",
"hgvs_c": "c.710A>G",
"hgvs_p": "p.Asp237Gly",
"intron_rank": null,
"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": "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": 7,
"exon_rank_end": null,
"feature": "ENST00000643112.1",
"gene_hgnc_id": 2623,
"gene_symbol": "CYP2C9",
"hgvs_c": "n.*199A>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": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1697,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000643112.1",
"gene_hgnc_id": 2623,
"gene_symbol": "CYP2C9",
"hgvs_c": "n.*199A>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
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs72558193",
"effect": "missense_variant",
"frequency_reference_population": 0.000006571425,
"gene_hgnc_id": 2623,
"gene_symbol": "CYP2C9",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_ac": 1,
"gnomad_genomes_af": 0.00000657142,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Uncertain_significance",
"phylop100way_score": 6.434,
"pos": 94986073,
"ref": "A",
"revel_prediction": "Uncertain_significance",
"revel_score": 0.591,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.009999999776482582,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0.01,
"transcript": "NM_000771.4"
}
]
}