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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: 10-13222128-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=13222128&ref=T&alt=C&genome=hg38&allGenes=true"
API Response
json
{
"variants": [
{
"chr": "10",
"pos": 13222128,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000378681.8",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UCMA",
"gene_hgnc_id": 25205,
"hgvs_c": "c.392A>G",
"hgvs_p": "p.Tyr131Cys",
"transcript": "NM_145314.3",
"protein_id": "NP_660357.2",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 138,
"cds_start": 392,
"cds_end": null,
"cds_length": 417,
"cdna_start": 508,
"cdna_end": null,
"cdna_length": 870,
"mane_select": "ENST00000378681.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UCMA",
"gene_hgnc_id": 25205,
"hgvs_c": "c.392A>G",
"hgvs_p": "p.Tyr131Cys",
"transcript": "ENST00000378681.8",
"protein_id": "ENSP00000367952.3",
"transcript_support_level": 1,
"aa_start": 131,
"aa_end": null,
"aa_length": 138,
"cds_start": 392,
"cds_end": null,
"cds_length": 417,
"cdna_start": 508,
"cdna_end": null,
"cdna_length": 870,
"mane_select": "NM_145314.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UCMA",
"gene_hgnc_id": 25205,
"hgvs_c": "c.326A>G",
"hgvs_p": "p.Tyr109Cys",
"transcript": "ENST00000463405.2",
"protein_id": "ENSP00000473368.1",
"transcript_support_level": 5,
"aa_start": 109,
"aa_end": null,
"aa_length": 116,
"cds_start": 326,
"cds_end": null,
"cds_length": 351,
"cdna_start": 402,
"cdna_end": null,
"cdna_length": 763,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UCMA",
"gene_hgnc_id": 25205,
"hgvs_c": "c.296A>G",
"hgvs_p": "p.Tyr99Cys",
"transcript": "NM_001303118.2",
"protein_id": "NP_001290047.1",
"transcript_support_level": null,
"aa_start": 99,
"aa_end": null,
"aa_length": 106,
"cds_start": 296,
"cds_end": null,
"cds_length": 321,
"cdna_start": 412,
"cdna_end": null,
"cdna_length": 774,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"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": "UCMA",
"gene_hgnc_id": 25205,
"hgvs_c": "c.230A>G",
"hgvs_p": "p.Tyr77Cys",
"transcript": "NM_001303119.2",
"protein_id": "NP_001290048.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 84,
"cds_start": 230,
"cds_end": null,
"cds_length": 255,
"cdna_start": 346,
"cdna_end": null,
"cdna_length": 708,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "UCMA",
"gene_hgnc_id": 25205,
"dbsnp": "rs2281796",
"frequency_reference_population": 0.00000889272,
"hom_count_reference_population": 0,
"allele_count_reference_population": 13,
"gnomad_exomes_af": 0.00000889272,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 13,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6398255228996277,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.6,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.3594,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.33,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 4.72,
"phylop100way_prediction": "Uncertain_significance",
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000378681.8",
"gene_symbol": "UCMA",
"hgnc_id": 25205,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.392A>G",
"hgvs_p": "p.Tyr131Cys"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}