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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: 15-54013358-GC-AT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=54013358&ref=GC&alt=AT&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "UNC13C",
"hgnc_id": 23149,
"hgvs_c": "c.455_456delGCinsAT",
"hgvs_p": "p.Arg152His",
"inheritance_mode": "AR",
"pathogenic_score": 1,
"score": 1,
"transcript": "NM_001080534.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3",
"acmg_score": 1,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "AT",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "15",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 2214,
"aa_ref": "R",
"aa_start": 152,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8880,
"cdna_start": 1198,
"cds_end": null,
"cds_length": 6645,
"cds_start": 455,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001080534.3",
"gene_hgnc_id": 23149,
"gene_symbol": "UNC13C",
"hgvs_c": "c.455_456delGCinsAT",
"hgvs_p": "p.Arg152His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000260323.16",
"protein_coding": true,
"protein_id": "NP_001074003.1",
"strand": true,
"transcript": "NM_001080534.3",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 2214,
"aa_ref": "R",
"aa_start": 152,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 8880,
"cdna_start": 1198,
"cds_end": null,
"cds_length": 6645,
"cds_start": 455,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000260323.16",
"gene_hgnc_id": 23149,
"gene_symbol": "UNC13C",
"hgvs_c": "c.455_456delGCinsAT",
"hgvs_p": "p.Arg152His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001080534.3",
"protein_coding": true,
"protein_id": "ENSP00000260323.11",
"strand": true,
"transcript": "ENST00000260323.16",
"transcript_support_level": 5
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 2212,
"aa_ref": "R",
"aa_start": 152,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13709,
"cdna_start": 1198,
"cds_end": null,
"cds_length": 6639,
"cds_start": 455,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001329919.2",
"gene_hgnc_id": 23149,
"gene_symbol": "UNC13C",
"hgvs_c": "c.455_456delGCinsAT",
"hgvs_p": "p.Arg152His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001316848.1",
"strand": true,
"transcript": "NM_001329919.2",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 2212,
"aa_ref": "R",
"aa_start": 152,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9216,
"cdna_start": 1438,
"cds_end": null,
"cds_length": 6639,
"cds_start": 455,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000647821.1",
"gene_hgnc_id": 23149,
"gene_symbol": "UNC13C",
"hgvs_c": "c.455_456delGCinsAT",
"hgvs_p": "p.Arg152His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000497525.1",
"strand": true,
"transcript": "ENST00000647821.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 2214,
"aa_ref": "R",
"aa_start": 152,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13814,
"cdna_start": 1297,
"cds_end": null,
"cds_length": 6645,
"cds_start": 455,
"consequences": [
"missense_variant"
],
"exon_count": 37,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017022220.2",
"gene_hgnc_id": 23149,
"gene_symbol": "UNC13C",
"hgvs_c": "c.455_456delGCinsAT",
"hgvs_p": "p.Arg152His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016877709.1",
"strand": true,
"transcript": "XM_017022220.2",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 2214,
"aa_ref": "R",
"aa_start": 152,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13694,
"cdna_start": 1177,
"cds_end": null,
"cds_length": 6645,
"cds_start": 455,
"consequences": [
"missense_variant"
],
"exon_count": 36,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017022221.2",
"gene_hgnc_id": 23149,
"gene_symbol": "UNC13C",
"hgvs_c": "c.455_456delGCinsAT",
"hgvs_p": "p.Arg152His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016877710.1",
"strand": true,
"transcript": "XM_017022221.2",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 2214,
"aa_ref": "R",
"aa_start": 152,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13592,
"cdna_start": 1075,
"cds_end": null,
"cds_length": 6645,
"cds_start": 455,
"consequences": [
"missense_variant"
],
"exon_count": 35,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017022222.2",
"gene_hgnc_id": 23149,
"gene_symbol": "UNC13C",
"hgvs_c": "c.455_456delGCinsAT",
"hgvs_p": "p.Arg152His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016877711.1",
"strand": true,
"transcript": "XM_017022222.2",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 2214,
"aa_ref": "R",
"aa_start": 152,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 18165,
"cdna_start": 5648,
"cds_end": null,
"cds_length": 6645,
"cds_start": 455,
"consequences": [
"missense_variant"
],
"exon_count": 38,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047432538.1",
"gene_hgnc_id": 23149,
"gene_symbol": "UNC13C",
"hgvs_c": "c.455_456delGCinsAT",
"hgvs_p": "p.Arg152His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047288494.1",
"strand": true,
"transcript": "XM_047432538.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": null,
"effect": "missense_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 23149,
"gene_symbol": "UNC13C",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Pathogenic",
"phylop100way_score": 8.11,
"pos": 54013358,
"ref": "GC",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": null,
"splice_score_selected": null,
"splice_source_selected": null,
"spliceai_max_prediction": null,
"spliceai_max_score": null,
"transcript": "NM_001080534.3"
}
]
}