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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: 16-84294987-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=84294987&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 84294987,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000219454.10",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WFDC1",
"gene_hgnc_id": 15466,
"hgvs_c": "c.16G>A",
"hgvs_p": "p.Val6Met",
"transcript": "NM_021197.4",
"protein_id": "NP_067020.2",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 220,
"cds_start": 16,
"cds_end": null,
"cds_length": 663,
"cdna_start": 110,
"cdna_end": null,
"cdna_length": 1295,
"mane_select": "ENST00000219454.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WFDC1",
"gene_hgnc_id": 15466,
"hgvs_c": "c.16G>A",
"hgvs_p": "p.Val6Met",
"transcript": "ENST00000219454.10",
"protein_id": "ENSP00000219454.5",
"transcript_support_level": 1,
"aa_start": 6,
"aa_end": null,
"aa_length": 220,
"cds_start": 16,
"cds_end": null,
"cds_length": 663,
"cdna_start": 110,
"cdna_end": null,
"cdna_length": 1295,
"mane_select": "NM_021197.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WFDC1",
"gene_hgnc_id": 15466,
"hgvs_c": "c.16G>A",
"hgvs_p": "p.Val6Met",
"transcript": "NM_001282466.2",
"protein_id": "NP_001269395.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 220,
"cds_start": 16,
"cds_end": null,
"cds_length": 663,
"cdna_start": 110,
"cdna_end": null,
"cdna_length": 1291,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WFDC1",
"gene_hgnc_id": 15466,
"hgvs_c": "c.16G>A",
"hgvs_p": "p.Val6Met",
"transcript": "ENST00000568638.1",
"protein_id": "ENSP00000456920.1",
"transcript_support_level": 2,
"aa_start": 6,
"aa_end": null,
"aa_length": 220,
"cds_start": 16,
"cds_end": null,
"cds_length": 663,
"cdna_start": 142,
"cdna_end": null,
"cdna_length": 1319,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WFDC1",
"gene_hgnc_id": 15466,
"hgvs_c": "c.16G>A",
"hgvs_p": "p.Val6Met",
"transcript": "NM_001282467.2",
"protein_id": "NP_001269396.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 219,
"cds_start": 16,
"cds_end": null,
"cds_length": 660,
"cdna_start": 110,
"cdna_end": null,
"cdna_length": 1288,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WFDC1",
"gene_hgnc_id": 15466,
"hgvs_c": "c.16G>A",
"hgvs_p": "p.Val6Met",
"transcript": "ENST00000613603.1",
"protein_id": "ENSP00000481580.1",
"transcript_support_level": 6,
"aa_start": 6,
"aa_end": null,
"aa_length": 66,
"cds_start": 16,
"cds_end": null,
"cds_length": 201,
"cdna_start": 44,
"cdna_end": null,
"cdna_length": 549,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WFDC1",
"gene_hgnc_id": 15466,
"hgvs_c": "c.16G>A",
"hgvs_p": "p.Val6Met",
"transcript": "XM_047434411.1",
"protein_id": "XP_047290367.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 192,
"cds_start": 16,
"cds_end": null,
"cds_length": 579,
"cdna_start": 110,
"cdna_end": null,
"cdna_length": 1211,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOC124903734",
"gene_hgnc_id": null,
"hgvs_c": "c.*149G>A",
"hgvs_p": null,
"transcript": "XM_047435022.1",
"protein_id": "XP_047290978.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 226,
"cds_start": -4,
"cds_end": null,
"cds_length": 681,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1205,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "WFDC1",
"gene_hgnc_id": 15466,
"dbsnp": "rs143040901",
"frequency_reference_population": 0.00019397549,
"hom_count_reference_population": 1,
"allele_count_reference_population": 313,
"gnomad_exomes_af": 0.000189552,
"gnomad_genomes_af": 0.000236425,
"gnomad_exomes_ac": 277,
"gnomad_genomes_ac": 36,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.027440160512924194,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.022,
"revel_prediction": "Benign",
"alphamissense_score": 0.1266,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.65,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.692,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000219454.10",
"gene_symbol": "WFDC1",
"hgnc_id": 15466,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.16G>A",
"hgvs_p": "p.Val6Met"
},
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "XM_047435022.1",
"gene_symbol": "LOC124903734",
"hgnc_id": null,
"effects": [
"downstream_gene_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.*149G>A",
"hgvs_p": null
}
],
"clinvar_disease": "not provided,not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "not specified|not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}