← Back to variant description
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: 11-118658994-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=118658994&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 118658994,
"ref": "G",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "ENST00000264029.9",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TREH",
"gene_hgnc_id": 12266,
"hgvs_c": "c.1456C>A",
"hgvs_p": "p.Arg486Arg",
"transcript": "NM_007180.3",
"protein_id": "NP_009111.2",
"transcript_support_level": null,
"aa_start": 486,
"aa_end": null,
"aa_length": 583,
"cds_start": 1456,
"cds_end": null,
"cds_length": 1752,
"cdna_start": 1479,
"cdna_end": null,
"cdna_length": 2748,
"mane_select": "ENST00000264029.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TREH",
"gene_hgnc_id": 12266,
"hgvs_c": "c.1456C>A",
"hgvs_p": "p.Arg486Arg",
"transcript": "ENST00000264029.9",
"protein_id": "ENSP00000264029.5",
"transcript_support_level": 1,
"aa_start": 486,
"aa_end": null,
"aa_length": 583,
"cds_start": 1456,
"cds_end": null,
"cds_length": 1752,
"cdna_start": 1479,
"cdna_end": null,
"cdna_length": 2748,
"mane_select": "NM_007180.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TREH",
"gene_hgnc_id": 12266,
"hgvs_c": "c.1363C>A",
"hgvs_p": "p.Arg455Arg",
"transcript": "ENST00000397925.2",
"protein_id": "ENSP00000381020.2",
"transcript_support_level": 1,
"aa_start": 455,
"aa_end": null,
"aa_length": 552,
"cds_start": 1363,
"cds_end": null,
"cds_length": 1659,
"cdna_start": 1402,
"cdna_end": null,
"cdna_length": 1718,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TREH",
"gene_hgnc_id": 12266,
"hgvs_c": "c.1363C>A",
"hgvs_p": "p.Arg455Arg",
"transcript": "NM_001301065.2",
"protein_id": "NP_001287994.1",
"transcript_support_level": null,
"aa_start": 455,
"aa_end": null,
"aa_length": 552,
"cds_start": 1363,
"cds_end": null,
"cds_length": 1659,
"cdna_start": 1386,
"cdna_end": null,
"cdna_length": 2655,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TREH",
"gene_hgnc_id": 12266,
"hgvs_c": "n.*1233C>A",
"hgvs_p": null,
"transcript": "ENST00000613915.4",
"protein_id": "ENSP00000477923.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1723,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TREH",
"gene_hgnc_id": 12266,
"hgvs_c": "n.*1233C>A",
"hgvs_p": null,
"transcript": "ENST00000613915.4",
"protein_id": "ENSP00000477923.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1723,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "TREH",
"gene_hgnc_id": 12266,
"dbsnp": "rs2276064",
"frequency_reference_population": 6.8422105e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84221e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.7699999809265137,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.6399999856948853,
"splice_prediction_selected": "Pathogenic",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.77,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.033,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.64,
"spliceai_max_prediction": "Pathogenic",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000264029.9",
"gene_symbol": "TREH",
"hgnc_id": 12266,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1456C>A",
"hgvs_p": "p.Arg486Arg"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}