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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: 17-75834092-ACTCC-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=75834092&ref=ACTCC&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 75834092,
"ref": "ACTCC",
"alt": "A",
"effect": "frameshift_variant",
"transcript": "NM_199242.3",
"consequences": [
{
"aa_ref": "RE",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UNC13D",
"gene_hgnc_id": 23147,
"hgvs_c": "c.2346_2349delGGAG",
"hgvs_p": "p.Arg782fs",
"transcript": "NM_199242.3",
"protein_id": "NP_954712.1",
"transcript_support_level": null,
"aa_start": 782,
"aa_end": null,
"aa_length": 1090,
"cds_start": 2346,
"cds_end": null,
"cds_length": 3273,
"cdna_start": 2416,
"cdna_end": null,
"cdna_length": 4080,
"mane_select": "ENST00000207549.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_199242.3"
},
{
"aa_ref": "RE",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UNC13D",
"gene_hgnc_id": 23147,
"hgvs_c": "c.2346_2349delGGAG",
"hgvs_p": "p.Arg782fs",
"transcript": "ENST00000207549.9",
"protein_id": "ENSP00000207549.3",
"transcript_support_level": 1,
"aa_start": 782,
"aa_end": null,
"aa_length": 1090,
"cds_start": 2346,
"cds_end": null,
"cds_length": 3273,
"cdna_start": 2416,
"cdna_end": null,
"cdna_length": 4080,
"mane_select": "NM_199242.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000207549.9"
},
{
"aa_ref": "RE",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UNC13D",
"gene_hgnc_id": 23147,
"hgvs_c": "c.2346_2349delGGAG",
"hgvs_p": "p.Arg782fs",
"transcript": "ENST00000412096.6",
"protein_id": "ENSP00000388093.1",
"transcript_support_level": 2,
"aa_start": 782,
"aa_end": null,
"aa_length": 1142,
"cds_start": 2346,
"cds_end": null,
"cds_length": 3429,
"cdna_start": 2362,
"cdna_end": null,
"cdna_length": 3648,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000412096.6"
},
{
"aa_ref": "RE",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UNC13D",
"gene_hgnc_id": 23147,
"hgvs_c": "c.2346_2349delGGAG",
"hgvs_p": "p.Arg782fs",
"transcript": "ENST00000868100.1",
"protein_id": "ENSP00000538159.1",
"transcript_support_level": null,
"aa_start": 782,
"aa_end": null,
"aa_length": 1090,
"cds_start": 2346,
"cds_end": null,
"cds_length": 3273,
"cdna_start": 2420,
"cdna_end": null,
"cdna_length": 4084,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868100.1"
},
{
"aa_ref": "RE",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UNC13D",
"gene_hgnc_id": 23147,
"hgvs_c": "c.2346_2349delGGAG",
"hgvs_p": "p.Arg782fs",
"transcript": "ENST00000868101.1",
"protein_id": "ENSP00000538160.1",
"transcript_support_level": null,
"aa_start": 782,
"aa_end": null,
"aa_length": 1090,
"cds_start": 2346,
"cds_end": null,
"cds_length": 3273,
"cdna_start": 2432,
"cdna_end": null,
"cdna_length": 4078,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868101.1"
},
{
"aa_ref": "RE",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UNC13D",
"gene_hgnc_id": 23147,
"hgvs_c": "c.2295_2298delGGAG",
"hgvs_p": "p.Arg765fs",
"transcript": "ENST00000965711.1",
"protein_id": "ENSP00000635770.1",
"transcript_support_level": null,
"aa_start": 765,
"aa_end": null,
"aa_length": 1073,
"cds_start": 2295,
"cds_end": null,
"cds_length": 3222,
"cdna_start": 2393,
"cdna_end": null,
"cdna_length": 4057,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965711.1"
},
{
"aa_ref": "RE",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UNC13D",
"gene_hgnc_id": 23147,
"hgvs_c": "c.2253_2256delGGAG",
"hgvs_p": "p.Arg751fs",
"transcript": "ENST00000965712.1",
"protein_id": "ENSP00000635771.1",
"transcript_support_level": null,
"aa_start": 751,
"aa_end": null,
"aa_length": 1059,
"cds_start": 2253,
"cds_end": null,
"cds_length": 3180,
"cdna_start": 2637,
"cdna_end": null,
"cdna_length": 4301,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965712.1"
},
{
"aa_ref": "RE",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UNC13D",
"gene_hgnc_id": 23147,
"hgvs_c": "c.1212_1215delGGAG",
"hgvs_p": "p.Arg404fs",
"transcript": "ENST00000699510.1",
"protein_id": "ENSP00000514405.1",
"transcript_support_level": null,
"aa_start": 404,
"aa_end": null,
"aa_length": 712,
"cds_start": 1212,
"cds_end": null,
"cds_length": 2139,
"cdna_start": 1215,
"cdna_end": null,
"cdna_length": 2740,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000699510.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UNC13D",
"gene_hgnc_id": 23147,
"hgvs_c": "n.2616_2619delGGAG",
"hgvs_p": null,
"transcript": "ENST00000591563.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4382,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000591563.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UNC13D",
"gene_hgnc_id": 23147,
"hgvs_c": "n.*229_*232delGGAG",
"hgvs_p": null,
"transcript": "ENST00000591616.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 659,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000591616.1"
}
],
"gene_symbol": "UNC13D",
"gene_hgnc_id": 23147,
"dbsnp": "rs764196809",
"frequency_reference_population": 0.00014936955,
"hom_count_reference_population": 0,
"allele_count_reference_population": 241,
"gnomad_exomes_af": 0.000158061,
"gnomad_genomes_af": 0.0000657938,
"gnomad_exomes_ac": 231,
"gnomad_genomes_ac": 10,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 1.575,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": 16,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 16,
"benign_score": 0,
"pathogenic_score": 16,
"criteria": [
"PVS1",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "NM_199242.3",
"gene_symbol": "UNC13D",
"hgnc_id": 23147,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2346_2349delGGAG",
"hgvs_p": "p.Arg782fs"
}
],
"clinvar_disease": "Autoinflammatory syndrome,Familial hemophagocytic lymphohistiocytosis,Familial hemophagocytic lymphohistiocytosis 3,not provided",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:11",
"phenotype_combined": "not provided|Familial hemophagocytic lymphohistiocytosis 3|Autoinflammatory syndrome|Familial hemophagocytic lymphohistiocytosis",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}