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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: 16-23689355-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=23689355&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 23689355,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_005030.6",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLK1",
"gene_hgnc_id": 9077,
"hgvs_c": "c.1388T>A",
"hgvs_p": "p.Leu463His",
"transcript": "NM_005030.6",
"protein_id": "NP_005021.2",
"transcript_support_level": null,
"aa_start": 463,
"aa_end": null,
"aa_length": 603,
"cds_start": 1388,
"cds_end": null,
"cds_length": 1812,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000300093.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005030.6"
},
{
"aa_ref": "L",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLK1",
"gene_hgnc_id": 9077,
"hgvs_c": "c.1388T>A",
"hgvs_p": "p.Leu463His",
"transcript": "ENST00000300093.9",
"protein_id": "ENSP00000300093.4",
"transcript_support_level": 1,
"aa_start": 463,
"aa_end": null,
"aa_length": 603,
"cds_start": 1388,
"cds_end": null,
"cds_length": 1812,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005030.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000300093.9"
},
{
"aa_ref": "L",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLK1",
"gene_hgnc_id": 9077,
"hgvs_c": "c.1388T>A",
"hgvs_p": "p.Leu463His",
"transcript": "ENST00000885692.1",
"protein_id": "ENSP00000555751.1",
"transcript_support_level": null,
"aa_start": 463,
"aa_end": null,
"aa_length": 592,
"cds_start": 1388,
"cds_end": null,
"cds_length": 1779,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885692.1"
},
{
"aa_ref": "L",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLK1",
"gene_hgnc_id": 9077,
"hgvs_c": "c.929T>A",
"hgvs_p": "p.Leu310His",
"transcript": "ENST00000922967.1",
"protein_id": "ENSP00000593026.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 450,
"cds_start": 929,
"cds_end": null,
"cds_length": 1353,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922967.1"
},
{
"aa_ref": "L",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLK1",
"gene_hgnc_id": 9077,
"hgvs_c": "c.695T>A",
"hgvs_p": "p.Leu232His",
"transcript": "ENST00000922968.1",
"protein_id": "ENSP00000593027.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 372,
"cds_start": 695,
"cds_end": null,
"cds_length": 1119,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922968.1"
},
{
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLK1",
"gene_hgnc_id": 9077,
"hgvs_c": "n.3408T>A",
"hgvs_p": null,
"transcript": "ENST00000562272.5",
"protein_id": null,
"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": "retained_intron",
"feature": "ENST00000562272.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLK1",
"gene_hgnc_id": 9077,
"hgvs_c": "n.188T>A",
"hgvs_p": null,
"transcript": "ENST00000564794.1",
"protein_id": null,
"transcript_support_level": 5,
"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": "ENST00000564794.1"
}
],
"gene_symbol": "PLK1",
"gene_hgnc_id": 9077,
"dbsnp": "rs45569335",
"frequency_reference_population": 0.009626425,
"hom_count_reference_population": 99,
"allele_count_reference_population": 15527,
"gnomad_exomes_af": 0.00995423,
"gnomad_genomes_af": 0.00648191,
"gnomad_exomes_ac": 14540,
"gnomad_genomes_ac": 987,
"gnomad_exomes_homalt": 95,
"gnomad_genomes_homalt": 4,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.00882500410079956,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.05000000074505806,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.238,
"revel_prediction": "Benign",
"alphamissense_score": 0.1918,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.07,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 4.586,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.05,
"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": -8,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BS2",
"acmg_by_gene": [
{
"score": -8,
"benign_score": 8,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_005030.6",
"gene_symbol": "PLK1",
"hgnc_id": 9077,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1388T>A",
"hgvs_p": "p.Leu463His"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}