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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: 15-40020940-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=40020940&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 40020940,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "ENST00000263791.10",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2AK4",
"gene_hgnc_id": 19687,
"hgvs_c": "c.4215C>T",
"hgvs_p": "p.Gly1405Gly",
"transcript": "NM_001013703.4",
"protein_id": "NP_001013725.2",
"transcript_support_level": null,
"aa_start": 1405,
"aa_end": null,
"aa_length": 1649,
"cds_start": 4215,
"cds_end": null,
"cds_length": 4950,
"cdna_start": 4296,
"cdna_end": null,
"cdna_length": 5538,
"mane_select": "ENST00000263791.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2AK4",
"gene_hgnc_id": 19687,
"hgvs_c": "c.4215C>T",
"hgvs_p": "p.Gly1405Gly",
"transcript": "ENST00000263791.10",
"protein_id": "ENSP00000263791.5",
"transcript_support_level": 2,
"aa_start": 1405,
"aa_end": null,
"aa_length": 1649,
"cds_start": 4215,
"cds_end": null,
"cds_length": 4950,
"cdna_start": 4296,
"cdna_end": null,
"cdna_length": 5538,
"mane_select": "NM_001013703.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2AK4",
"gene_hgnc_id": 19687,
"hgvs_c": "n.3132C>T",
"hgvs_p": null,
"transcript": "ENST00000558629.5",
"protein_id": null,
"transcript_support_level": 1,
"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": 4374,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2AK4",
"gene_hgnc_id": 19687,
"hgvs_c": "c.3546C>T",
"hgvs_p": "p.Gly1182Gly",
"transcript": "ENST00000560855.5",
"protein_id": "ENSP00000453575.1",
"transcript_support_level": 5,
"aa_start": 1182,
"aa_end": null,
"aa_length": 1426,
"cds_start": 3546,
"cds_end": null,
"cds_length": 4281,
"cdna_start": 3547,
"cdna_end": null,
"cdna_length": 4789,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2AK4",
"gene_hgnc_id": 19687,
"hgvs_c": "n.1207C>T",
"hgvs_p": null,
"transcript": "ENST00000558557.1",
"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": 2449,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2AK4",
"gene_hgnc_id": 19687,
"hgvs_c": "n.415C>T",
"hgvs_p": null,
"transcript": "ENST00000558743.1",
"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": 581,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000306490",
"gene_hgnc_id": null,
"hgvs_c": "n.195+1711G>A",
"hgvs_p": null,
"transcript": "ENST00000819059.1",
"protein_id": null,
"transcript_support_level": null,
"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": 466,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "EIF2AK4",
"gene_hgnc_id": 19687,
"dbsnp": "rs3207297",
"frequency_reference_population": 0.35302725,
"hom_count_reference_population": 101120,
"allele_count_reference_population": 568878,
"gnomad_exomes_af": 0.353469,
"gnomad_genomes_af": 0.348784,
"gnomad_exomes_ac": 515927,
"gnomad_genomes_ac": 52951,
"gnomad_exomes_homalt": 91888,
"gnomad_genomes_homalt": 9232,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.2800000011920929,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.28,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.017,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.03,
"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": -19,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6_Very_Strong,BP7,BA1",
"acmg_by_gene": [
{
"score": -19,
"benign_score": 19,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6_Very_Strong",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000263791.10",
"gene_symbol": "EIF2AK4",
"hgnc_id": 19687,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.4215C>T",
"hgvs_p": "p.Gly1405Gly"
},
{
"score": -18,
"benign_score": 18,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000819059.1",
"gene_symbol": "ENSG00000306490",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.195+1711G>A",
"hgvs_p": null
}
],
"clinvar_disease": "Familial pulmonary capillary hemangiomatosis,not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:6",
"phenotype_combined": "not specified|Familial pulmonary capillary hemangiomatosis|not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}