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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: 17-75840317-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=75840317&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 75840317,
"ref": "G",
"alt": "A",
"effect": "stop_gained",
"transcript": "ENST00000207549.9",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UNC13D",
"gene_hgnc_id": 23147,
"hgvs_c": "c.766C>T",
"hgvs_p": "p.Arg256*",
"transcript": "NM_199242.3",
"protein_id": "NP_954712.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 1090,
"cds_start": 766,
"cds_end": null,
"cds_length": 3273,
"cdna_start": 833,
"cdna_end": null,
"cdna_length": 4080,
"mane_select": "ENST00000207549.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UNC13D",
"gene_hgnc_id": 23147,
"hgvs_c": "c.766C>T",
"hgvs_p": "p.Arg256*",
"transcript": "ENST00000207549.9",
"protein_id": "ENSP00000207549.3",
"transcript_support_level": 1,
"aa_start": 256,
"aa_end": null,
"aa_length": 1090,
"cds_start": 766,
"cds_end": null,
"cds_length": 3273,
"cdna_start": 833,
"cdna_end": null,
"cdna_length": 4080,
"mane_select": "NM_199242.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UNC13D",
"gene_hgnc_id": 23147,
"hgvs_c": "c.766C>T",
"hgvs_p": "p.Arg256*",
"transcript": "ENST00000412096.6",
"protein_id": "ENSP00000388093.1",
"transcript_support_level": 2,
"aa_start": 256,
"aa_end": null,
"aa_length": 1142,
"cds_start": 766,
"cds_end": null,
"cds_length": 3429,
"cdna_start": 779,
"cdna_end": null,
"cdna_length": 3648,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UNC13D",
"gene_hgnc_id": 23147,
"hgvs_c": "c.748C>T",
"hgvs_p": "p.Arg250*",
"transcript": "ENST00000592386.6",
"protein_id": "ENSP00000466826.2",
"transcript_support_level": 5,
"aa_start": 250,
"aa_end": null,
"aa_length": 310,
"cds_start": 748,
"cds_end": null,
"cds_length": 933,
"cdna_start": 748,
"cdna_end": null,
"cdna_length": 933,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UNC13D",
"gene_hgnc_id": 23147,
"hgvs_c": "c.709C>T",
"hgvs_p": "p.Arg237*",
"transcript": "ENST00000590762.5",
"protein_id": "ENSP00000467653.1",
"transcript_support_level": 5,
"aa_start": 237,
"aa_end": null,
"aa_length": 266,
"cds_start": 709,
"cds_end": null,
"cds_length": 801,
"cdna_start": 756,
"cdna_end": null,
"cdna_length": 848,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UNC13D",
"gene_hgnc_id": 23147,
"hgvs_c": "n.747C>T",
"hgvs_p": null,
"transcript": "ENST00000587504.6",
"protein_id": "ENSP00000514388.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1176,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UNC13D",
"gene_hgnc_id": 23147,
"hgvs_c": "n.847C>T",
"hgvs_p": null,
"transcript": "ENST00000591563.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4382,
"mane_select": null,
"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": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "UNC13D",
"gene_hgnc_id": 23147,
"hgvs_c": "c.117+3904C>T",
"hgvs_p": null,
"transcript": "ENST00000586147.1",
"protein_id": "ENSP00000466543.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 187,
"cds_start": -4,
"cds_end": null,
"cds_length": 566,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 589,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UNC13D",
"gene_hgnc_id": 23147,
"hgvs_c": "c.-57C>T",
"hgvs_p": null,
"transcript": "ENST00000699511.1",
"protein_id": "ENSP00000514406.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 297,
"cds_start": -4,
"cds_end": null,
"cds_length": 896,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 898,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UNC13D",
"gene_hgnc_id": 23147,
"hgvs_c": "n.-15C>T",
"hgvs_p": null,
"transcript": "ENST00000587105.1",
"protein_id": "ENSP00000466377.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 776,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UNC13D",
"gene_hgnc_id": 23147,
"hgvs_c": "n.*365C>T",
"hgvs_p": null,
"transcript": "ENST00000585574.6",
"protein_id": "ENSP00000514389.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 760,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "UNC13D",
"gene_hgnc_id": 23147,
"dbsnp": "rs121434352",
"frequency_reference_population": 0.000014253948,
"hom_count_reference_population": 0,
"allele_count_reference_population": 23,
"gnomad_exomes_af": 0.0000130009,
"gnomad_genomes_af": 0.0000262898,
"gnomad_exomes_ac": 19,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.550000011920929,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.55,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 3.013,
"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": 18,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 18,
"benign_score": 0,
"pathogenic_score": 18,
"criteria": [
"PVS1",
"PM2",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000207549.9",
"gene_symbol": "UNC13D",
"hgnc_id": 23147,
"effects": [
"stop_gained"
],
"inheritance_mode": "AR",
"hgvs_c": "c.766C>T",
"hgvs_p": "p.Arg256*"
}
],
"clinvar_disease": "Autoinflammatory syndrome,Familial hemophagocytic lymphohistiocytosis 3,UNC13D-related disorder,not provided",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:4 LP:1",
"phenotype_combined": "Familial hemophagocytic lymphohistiocytosis 3|not provided|Autoinflammatory syndrome|UNC13D-related disorder",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}