← 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: 6-29440376-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=29440376&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 29440376,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000444197.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OR10C1",
"gene_hgnc_id": 8165,
"hgvs_c": "c.361C>T",
"hgvs_p": "p.Arg121Cys",
"transcript": "NM_013941.4",
"protein_id": "NP_039229.3",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 312,
"cds_start": 361,
"cds_end": null,
"cds_length": 939,
"cdna_start": 1071,
"cdna_end": null,
"cdna_length": 1672,
"mane_select": "ENST00000444197.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OR10C1",
"gene_hgnc_id": 8165,
"hgvs_c": "c.361C>T",
"hgvs_p": "p.Arg121Cys",
"transcript": "ENST00000444197.3",
"protein_id": "ENSP00000419119.1",
"transcript_support_level": 6,
"aa_start": 121,
"aa_end": null,
"aa_length": 312,
"cds_start": 361,
"cds_end": null,
"cds_length": 939,
"cdna_start": 1071,
"cdna_end": null,
"cdna_length": 1672,
"mane_select": "NM_013941.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "OR11A1",
"gene_hgnc_id": 8176,
"hgvs_c": "c.-388-8389G>A",
"hgvs_p": null,
"transcript": "NM_001394828.1",
"protein_id": "NP_001381757.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 315,
"cds_start": -4,
"cds_end": null,
"cds_length": 948,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2611,
"mane_select": "ENST00000377149.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "OR11A1",
"gene_hgnc_id": 8176,
"hgvs_c": "c.-388-8389G>A",
"hgvs_p": null,
"transcript": "ENST00000377149.5",
"protein_id": "ENSP00000366354.1",
"transcript_support_level": 6,
"aa_start": null,
"aa_end": null,
"aa_length": 315,
"cds_start": -4,
"cds_end": null,
"cds_length": 948,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2611,
"mane_select": "NM_001394828.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OR10C1",
"gene_hgnc_id": 8165,
"hgvs_c": "c.367C>T",
"hgvs_p": "p.Arg123Cys",
"transcript": "ENST00000622521.1",
"protein_id": "ENSP00000481429.1",
"transcript_support_level": 6,
"aa_start": 123,
"aa_end": null,
"aa_length": 314,
"cds_start": 367,
"cds_end": null,
"cds_length": 945,
"cdna_start": 438,
"cdna_end": null,
"cdna_length": 1039,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "OR10C1",
"gene_hgnc_id": 8165,
"dbsnp": "rs17177639",
"frequency_reference_population": 0.009752607,
"hom_count_reference_population": 303,
"allele_count_reference_population": 15741,
"gnomad_exomes_af": 0.00800013,
"gnomad_genomes_af": 0.0265719,
"gnomad_exomes_ac": 11694,
"gnomad_genomes_ac": 4047,
"gnomad_exomes_homalt": 188,
"gnomad_genomes_homalt": 115,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.016771823167800903,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.402,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.3088,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.34,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.704,
"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": "ENST00000444197.3",
"gene_symbol": "OR10C1",
"hgnc_id": 8165,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.361C>T",
"hgvs_p": "p.Arg121Cys"
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000377149.5",
"gene_symbol": "OR11A1",
"hgnc_id": 8176,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.-388-8389G>A",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}