← 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: 1-1334174-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=1334174&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 1334174,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000339381.6",
"consequences": [
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAS1R3",
"gene_hgnc_id": 15661,
"hgvs_c": "c.2269T>C",
"hgvs_p": "p.Cys757Arg",
"transcript": "NM_152228.3",
"protein_id": "NP_689414.2",
"transcript_support_level": null,
"aa_start": 757,
"aa_end": null,
"aa_length": 852,
"cds_start": 2269,
"cds_end": null,
"cds_length": 2559,
"cdna_start": 2335,
"cdna_end": null,
"cdna_length": 3475,
"mane_select": "ENST00000339381.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAS1R3",
"gene_hgnc_id": 15661,
"hgvs_c": "c.2269T>C",
"hgvs_p": "p.Cys757Arg",
"transcript": "ENST00000339381.6",
"protein_id": "ENSP00000344411.5",
"transcript_support_level": 2,
"aa_start": 757,
"aa_end": null,
"aa_length": 852,
"cds_start": 2269,
"cds_end": null,
"cds_length": 2559,
"cdna_start": 2335,
"cdna_end": null,
"cdna_length": 3475,
"mane_select": "NM_152228.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAS1R3",
"gene_hgnc_id": 15661,
"hgvs_c": "c.2395T>C",
"hgvs_p": "p.Cys799Arg",
"transcript": "XM_017002435.2",
"protein_id": "XP_016857924.1",
"transcript_support_level": null,
"aa_start": 799,
"aa_end": null,
"aa_length": 894,
"cds_start": 2395,
"cds_end": null,
"cds_length": 2685,
"cdna_start": 2461,
"cdna_end": null,
"cdna_length": 3601,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAS1R3",
"gene_hgnc_id": 15661,
"hgvs_c": "c.2392T>C",
"hgvs_p": "p.Cys798Arg",
"transcript": "XM_017002436.2",
"protein_id": "XP_016857925.1",
"transcript_support_level": null,
"aa_start": 798,
"aa_end": null,
"aa_length": 893,
"cds_start": 2392,
"cds_end": null,
"cds_length": 2682,
"cdna_start": 2458,
"cdna_end": null,
"cdna_length": 3598,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAS1R3",
"gene_hgnc_id": 15661,
"hgvs_c": "c.2266T>C",
"hgvs_p": "p.Cys756Arg",
"transcript": "XM_047431571.1",
"protein_id": "XP_047287527.1",
"transcript_support_level": null,
"aa_start": 756,
"aa_end": null,
"aa_length": 851,
"cds_start": 2266,
"cds_end": null,
"cds_length": 2556,
"cdna_start": 2332,
"cdna_end": null,
"cdna_length": 3472,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "TAS1R3",
"gene_hgnc_id": 15661,
"dbsnp": "rs307377",
"frequency_reference_population": 0.9669963,
"hom_count_reference_population": 745711,
"allele_count_reference_population": 1541483,
"gnomad_exomes_af": 0.96664,
"gnomad_genomes_af": 0.970365,
"gnomad_exomes_ac": 1393644,
"gnomad_genomes_ac": 147839,
"gnomad_exomes_homalt": 673937,
"gnomad_genomes_homalt": 71774,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.000002340013224966242,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.134,
"revel_prediction": "Benign",
"alphamissense_score": 0.0532,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.37,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.36,
"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": "ENST00000339381.6",
"gene_symbol": "TAS1R3",
"hgnc_id": 15661,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2269T>C",
"hgvs_p": "p.Cys757Arg"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}