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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: 10-94852738-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=94852738&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 94852738,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_000769.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2C19",
"gene_hgnc_id": 2621,
"hgvs_c": "c.1297C>T",
"hgvs_p": "p.Arg433Trp",
"transcript": "NM_000769.4",
"protein_id": "NP_000760.1",
"transcript_support_level": null,
"aa_start": 433,
"aa_end": null,
"aa_length": 490,
"cds_start": 1297,
"cds_end": null,
"cds_length": 1473,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000371321.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000769.4"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2C19",
"gene_hgnc_id": 2621,
"hgvs_c": "c.1297C>T",
"hgvs_p": "p.Arg433Trp",
"transcript": "ENST00000371321.9",
"protein_id": "ENSP00000360372.3",
"transcript_support_level": 1,
"aa_start": 433,
"aa_end": null,
"aa_length": 490,
"cds_start": 1297,
"cds_end": null,
"cds_length": 1473,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000769.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000371321.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000276490",
"gene_hgnc_id": null,
"hgvs_c": "n.*1055C>T",
"hgvs_p": null,
"transcript": "ENST00000464755.1",
"protein_id": "ENSP00000483243.1",
"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": "ENST00000464755.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000276490",
"gene_hgnc_id": null,
"hgvs_c": "n.*1055C>T",
"hgvs_p": null,
"transcript": "ENST00000464755.1",
"protein_id": "ENSP00000483243.1",
"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": "ENST00000464755.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2C19",
"gene_hgnc_id": 2621,
"hgvs_c": "c.1321C>T",
"hgvs_p": "p.Arg441Trp",
"transcript": "ENST00000883431.1",
"protein_id": "ENSP00000553490.1",
"transcript_support_level": null,
"aa_start": 441,
"aa_end": null,
"aa_length": 498,
"cds_start": 1321,
"cds_end": null,
"cds_length": 1497,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883431.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2C19",
"gene_hgnc_id": 2621,
"hgvs_c": "c.1318C>T",
"hgvs_p": "p.Arg440Trp",
"transcript": "ENST00000883430.1",
"protein_id": "ENSP00000553489.1",
"transcript_support_level": null,
"aa_start": 440,
"aa_end": null,
"aa_length": 497,
"cds_start": 1318,
"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": "ENST00000883430.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2C19",
"gene_hgnc_id": 2621,
"hgvs_c": "c.1318C>T",
"hgvs_p": "p.Arg440Trp",
"transcript": "ENST00000883435.1",
"protein_id": "ENSP00000553494.1",
"transcript_support_level": null,
"aa_start": 440,
"aa_end": null,
"aa_length": 497,
"cds_start": 1318,
"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": "ENST00000883435.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2C19",
"gene_hgnc_id": 2621,
"hgvs_c": "c.1306C>T",
"hgvs_p": "p.Arg436Trp",
"transcript": "ENST00000883437.1",
"protein_id": "ENSP00000553496.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 493,
"cds_start": 1306,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883437.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2C19",
"gene_hgnc_id": 2621,
"hgvs_c": "c.1291C>T",
"hgvs_p": "p.Arg431Trp",
"transcript": "ENST00000883434.1",
"protein_id": "ENSP00000553493.1",
"transcript_support_level": null,
"aa_start": 431,
"aa_end": null,
"aa_length": 488,
"cds_start": 1291,
"cds_end": null,
"cds_length": 1467,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883434.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2C19",
"gene_hgnc_id": 2621,
"hgvs_c": "c.1234C>T",
"hgvs_p": "p.Arg412Trp",
"transcript": "ENST00000883433.1",
"protein_id": "ENSP00000553492.1",
"transcript_support_level": null,
"aa_start": 412,
"aa_end": null,
"aa_length": 469,
"cds_start": 1234,
"cds_end": null,
"cds_length": 1410,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883433.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2C19",
"gene_hgnc_id": 2621,
"hgvs_c": "c.967C>T",
"hgvs_p": "p.Arg323Trp",
"transcript": "ENST00000883432.1",
"protein_id": "ENSP00000553491.1",
"transcript_support_level": null,
"aa_start": 323,
"aa_end": null,
"aa_length": 380,
"cds_start": 967,
"cds_end": null,
"cds_length": 1143,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883432.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2C19",
"gene_hgnc_id": 2621,
"hgvs_c": "c.904C>T",
"hgvs_p": "p.Arg302Trp",
"transcript": "ENST00000883436.1",
"protein_id": "ENSP00000553495.1",
"transcript_support_level": null,
"aa_start": 302,
"aa_end": null,
"aa_length": 359,
"cds_start": 904,
"cds_end": null,
"cds_length": 1080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883436.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2C19",
"gene_hgnc_id": 2621,
"hgvs_c": "n.2208C>T",
"hgvs_p": null,
"transcript": "ENST00000645461.1",
"protein_id": null,
"transcript_support_level": null,
"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": "retained_intron",
"feature": "ENST00000645461.1"
}
],
"gene_symbol": "CYP2C19",
"gene_hgnc_id": 2621,
"dbsnp": "rs56337013",
"frequency_reference_population": 0.000017352138,
"hom_count_reference_population": 0,
"allele_count_reference_population": 28,
"gnomad_exomes_af": 0.0000177902,
"gnomad_genomes_af": 0.0000131444,
"gnomad_exomes_ac": 26,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.908921480178833,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.03999999910593033,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.621,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.6101,
"alphamissense_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.19,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 0.973,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.04,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PP3_Moderate,BS2",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PP3_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_000769.4",
"gene_symbol": "CYP2C19",
"hgnc_id": 2621,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1297C>T",
"hgvs_p": "p.Arg433Trp"
},
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000464755.1",
"gene_symbol": "ENSG00000276490",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.*1055C>T",
"hgvs_p": null
}
],
"clinvar_disease": " poor metabolism of,CYP2C19: no function,Mephenytoin,not provided",
"clinvar_classification": "drug response",
"clinvar_review_status": "practice guideline",
"clinvar_submissions_summary": "O:2",
"phenotype_combined": "Mephenytoin, poor metabolism of|not provided|CYP2C19: no function",
"pathogenicity_classification_combined": "drug response",
"custom_annotations": null
}
],
"message": null
}