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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: 14-23276324-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=23276324&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 23276324,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000357460.7",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "T",
"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": "HOMEZ",
"gene_hgnc_id": 20164,
"hgvs_c": "c.904G>A",
"hgvs_p": "p.Ala302Thr",
"transcript": "NM_020834.3",
"protein_id": "NP_065885.2",
"transcript_support_level": null,
"aa_start": 302,
"aa_end": null,
"aa_length": 550,
"cds_start": 904,
"cds_end": null,
"cds_length": 1653,
"cdna_start": 1084,
"cdna_end": null,
"cdna_length": 4986,
"mane_select": "ENST00000357460.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"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": "HOMEZ",
"gene_hgnc_id": 20164,
"hgvs_c": "c.904G>A",
"hgvs_p": "p.Ala302Thr",
"transcript": "ENST00000357460.7",
"protein_id": "ENSP00000350049.4",
"transcript_support_level": 1,
"aa_start": 302,
"aa_end": null,
"aa_length": 550,
"cds_start": 904,
"cds_end": null,
"cds_length": 1653,
"cdna_start": 1084,
"cdna_end": null,
"cdna_length": 4986,
"mane_select": "NM_020834.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HOMEZ",
"gene_hgnc_id": 20164,
"hgvs_c": "c.910G>A",
"hgvs_p": "p.Ala304Thr",
"transcript": "ENST00000561013.3",
"protein_id": "ENSP00000453979.1",
"transcript_support_level": 2,
"aa_start": 304,
"aa_end": null,
"aa_length": 552,
"cds_start": 910,
"cds_end": null,
"cds_length": 1659,
"cdna_start": 1418,
"cdna_end": null,
"cdna_length": 3686,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HOMEZ",
"gene_hgnc_id": 20164,
"hgvs_c": "c.571G>A",
"hgvs_p": "p.Ala191Thr",
"transcript": "ENST00000673724.1",
"protein_id": "ENSP00000501153.1",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 439,
"cds_start": 571,
"cds_end": null,
"cds_length": 1320,
"cdna_start": 689,
"cdna_end": null,
"cdna_length": 1830,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"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": "HOMEZ",
"gene_hgnc_id": 20164,
"hgvs_c": "c.394G>A",
"hgvs_p": "p.Ala132Thr",
"transcript": "ENST00000606731.2",
"protein_id": "ENSP00000475307.3",
"transcript_support_level": 2,
"aa_start": 132,
"aa_end": null,
"aa_length": 323,
"cds_start": 394,
"cds_end": null,
"cds_length": 972,
"cdna_start": 394,
"cdna_end": null,
"cdna_length": 972,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "HOMEZ",
"gene_hgnc_id": 20164,
"dbsnp": "rs10131813",
"frequency_reference_population": 0.4046706,
"hom_count_reference_population": 133528,
"allele_count_reference_population": 652762,
"gnomad_exomes_af": 0.405322,
"gnomad_genomes_af": 0.398399,
"gnomad_exomes_ac": 592262,
"gnomad_genomes_ac": 60500,
"gnomad_exomes_homalt": 121295,
"gnomad_genomes_homalt": 12233,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.002745598554611206,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.032,
"revel_prediction": "Benign",
"alphamissense_score": 0.0578,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.82,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.136,
"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": -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": "ENST00000357460.7",
"gene_symbol": "HOMEZ",
"hgnc_id": 20164,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.904G>A",
"hgvs_p": "p.Ala302Thr"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}