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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: 16-69711242-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=69711242&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 69711242,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000320623.10",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NQO1",
"gene_hgnc_id": 2874,
"hgvs_c": "c.559C>T",
"hgvs_p": "p.Pro187Ser",
"transcript": "NM_000903.3",
"protein_id": "NP_000894.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 274,
"cds_start": 559,
"cds_end": null,
"cds_length": 825,
"cdna_start": 680,
"cdna_end": null,
"cdna_length": 2521,
"mane_select": "ENST00000320623.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NQO1",
"gene_hgnc_id": 2874,
"hgvs_c": "c.559C>T",
"hgvs_p": "p.Pro187Ser",
"transcript": "ENST00000320623.10",
"protein_id": "ENSP00000319788.5",
"transcript_support_level": 1,
"aa_start": 187,
"aa_end": null,
"aa_length": 274,
"cds_start": 559,
"cds_end": null,
"cds_length": 825,
"cdna_start": 680,
"cdna_end": null,
"cdna_length": 2521,
"mane_select": "NM_000903.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NQO1",
"gene_hgnc_id": 2874,
"hgvs_c": "c.496C>T",
"hgvs_p": "p.Pro166Ser",
"transcript": "ENST00000564043.1",
"protein_id": "ENSP00000455020.1",
"transcript_support_level": 1,
"aa_start": 166,
"aa_end": null,
"aa_length": 253,
"cds_start": 496,
"cds_end": null,
"cds_length": 762,
"cdna_start": 612,
"cdna_end": null,
"cdna_length": 892,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NQO1",
"gene_hgnc_id": 2874,
"hgvs_c": "c.457C>T",
"hgvs_p": "p.Pro153Ser",
"transcript": "ENST00000379047.7",
"protein_id": "ENSP00000368335.3",
"transcript_support_level": 1,
"aa_start": 153,
"aa_end": null,
"aa_length": 240,
"cds_start": 457,
"cds_end": null,
"cds_length": 723,
"cdna_start": 686,
"cdna_end": null,
"cdna_length": 2527,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NQO1",
"gene_hgnc_id": 2874,
"hgvs_c": "c.445C>T",
"hgvs_p": "p.Pro149Ser",
"transcript": "ENST00000379046.6",
"protein_id": "ENSP00000368334.2",
"transcript_support_level": 1,
"aa_start": 149,
"aa_end": null,
"aa_length": 236,
"cds_start": 445,
"cds_end": null,
"cds_length": 711,
"cdna_start": 590,
"cdna_end": null,
"cdna_length": 1105,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NQO1",
"gene_hgnc_id": 2874,
"hgvs_c": "c.445C>T",
"hgvs_p": "p.Pro149Ser",
"transcript": "ENST00000561500.5",
"protein_id": "ENSP00000456282.1",
"transcript_support_level": 3,
"aa_start": 149,
"aa_end": null,
"aa_length": 269,
"cds_start": 445,
"cds_end": null,
"cds_length": 810,
"cdna_start": 512,
"cdna_end": null,
"cdna_length": 891,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NQO1",
"gene_hgnc_id": 2874,
"hgvs_c": "c.457C>T",
"hgvs_p": "p.Pro153Ser",
"transcript": "NM_001025433.2",
"protein_id": "NP_001020604.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 240,
"cds_start": 457,
"cds_end": null,
"cds_length": 723,
"cdna_start": 578,
"cdna_end": null,
"cdna_length": 2419,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NQO1",
"gene_hgnc_id": 2874,
"hgvs_c": "c.445C>T",
"hgvs_p": "p.Pro149Ser",
"transcript": "NM_001025434.2",
"protein_id": "NP_001020605.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 236,
"cds_start": 445,
"cds_end": null,
"cds_length": 711,
"cdna_start": 566,
"cdna_end": null,
"cdna_length": 2407,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NQO1",
"gene_hgnc_id": 2874,
"hgvs_c": "c.343C>T",
"hgvs_p": "p.Pro115Ser",
"transcript": "NM_001286137.2",
"protein_id": "NP_001273066.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 202,
"cds_start": 343,
"cds_end": null,
"cds_length": 609,
"cdna_start": 464,
"cdna_end": null,
"cdna_length": 2305,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NQO1",
"gene_hgnc_id": 2874,
"hgvs_c": "c.343C>T",
"hgvs_p": "p.Pro115Ser",
"transcript": "ENST00000439109.6",
"protein_id": "ENSP00000398330.2",
"transcript_support_level": 2,
"aa_start": 115,
"aa_end": null,
"aa_length": 202,
"cds_start": 343,
"cds_end": null,
"cds_length": 609,
"cdna_start": 464,
"cdna_end": null,
"cdna_length": 924,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "NQO1",
"gene_hgnc_id": 2874,
"dbsnp": "rs1800566",
"frequency_reference_population": 0.2068909,
"hom_count_reference_population": 37821,
"allele_count_reference_population": 333132,
"gnomad_exomes_af": 0.205884,
"gnomad_genomes_af": 0.216544,
"gnomad_exomes_ac": 300203,
"gnomad_genomes_ac": 32929,
"gnomad_exomes_homalt": 33933,
"gnomad_genomes_homalt": 3888,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.003141850233078003,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.366,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.5418,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.01,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 9.295,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.01,
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000320623.10",
"gene_symbol": "NQO1",
"hgnc_id": 2874,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.559C>T",
"hgvs_p": "p.Pro187Ser"
}
],
"clinvar_disease": " susceptibility to,Benzene toxicity,NQO1-related disorder",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Benzene toxicity, susceptibility to|NQO1-related disorder",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}