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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: 8-31032158-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=31032158&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 31032158,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001323311.2",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PURG",
"gene_hgnc_id": 17930,
"hgvs_c": "c.625A>G",
"hgvs_p": "p.Ile209Val",
"transcript": "NM_001323311.2",
"protein_id": "NP_001310240.1",
"transcript_support_level": null,
"aa_start": 209,
"aa_end": null,
"aa_length": 347,
"cds_start": 625,
"cds_end": null,
"cds_length": 1044,
"cdna_start": 910,
"cdna_end": null,
"cdna_length": 2218,
"mane_select": "ENST00000523392.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PURG",
"gene_hgnc_id": 17930,
"hgvs_c": "c.625A>G",
"hgvs_p": "p.Ile209Val",
"transcript": "ENST00000523392.2",
"protein_id": "ENSP00000466881.2",
"transcript_support_level": 3,
"aa_start": 209,
"aa_end": null,
"aa_length": 347,
"cds_start": 625,
"cds_end": null,
"cds_length": 1044,
"cdna_start": 910,
"cdna_end": null,
"cdna_length": 2218,
"mane_select": "NM_001323311.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PURG",
"gene_hgnc_id": 17930,
"hgvs_c": "c.625A>G",
"hgvs_p": "p.Ile209Val",
"transcript": "ENST00000339382.3",
"protein_id": "ENSP00000345168.2",
"transcript_support_level": 1,
"aa_start": 209,
"aa_end": null,
"aa_length": 322,
"cds_start": 625,
"cds_end": null,
"cds_length": 969,
"cdna_start": 1558,
"cdna_end": null,
"cdna_length": 2693,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PURG",
"gene_hgnc_id": 17930,
"hgvs_c": "c.625A>G",
"hgvs_p": "p.Ile209Val",
"transcript": "NM_013357.2",
"protein_id": "NP_037489.1",
"transcript_support_level": null,
"aa_start": 209,
"aa_end": null,
"aa_length": 347,
"cds_start": 625,
"cds_end": null,
"cds_length": 1044,
"cdna_start": 644,
"cdna_end": null,
"cdna_length": 1961,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PURG",
"gene_hgnc_id": 17930,
"hgvs_c": "c.625A>G",
"hgvs_p": "p.Ile209Val",
"transcript": "ENST00000475541.2",
"protein_id": "ENSP00000418721.1",
"transcript_support_level": 6,
"aa_start": 209,
"aa_end": null,
"aa_length": 347,
"cds_start": 625,
"cds_end": null,
"cds_length": 1044,
"cdna_start": 1558,
"cdna_end": null,
"cdna_length": 2866,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PURG",
"gene_hgnc_id": 17930,
"hgvs_c": "c.625A>G",
"hgvs_p": "p.Ile209Val",
"transcript": "NM_001015508.3",
"protein_id": "NP_001015508.1",
"transcript_support_level": null,
"aa_start": 209,
"aa_end": null,
"aa_length": 322,
"cds_start": 625,
"cds_end": null,
"cds_length": 969,
"cdna_start": 1199,
"cdna_end": null,
"cdna_length": 2334,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PURG",
"gene_hgnc_id": 17930,
"hgvs_c": "c.625A>G",
"hgvs_p": "p.Ile209Val",
"transcript": "NM_001323312.2",
"protein_id": "NP_001310241.1",
"transcript_support_level": null,
"aa_start": 209,
"aa_end": null,
"aa_length": 322,
"cds_start": 625,
"cds_end": null,
"cds_length": 969,
"cdna_start": 910,
"cdna_end": null,
"cdna_length": 2045,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "PURG",
"gene_hgnc_id": 17930,
"dbsnp": null,
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.15427270531654358,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.052,
"revel_prediction": "Benign",
"alphamissense_score": 0.0791,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.51,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.594,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.03,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001323311.2",
"gene_symbol": "PURG",
"hgnc_id": 17930,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.625A>G",
"hgvs_p": "p.Ile209Val"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}