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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: 20-32943738-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=32943738&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 32943738,
"ref": "C",
"alt": "T",
"effect": "stop_gained",
"transcript": "ENST00000400522.9",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFCAB8",
"gene_hgnc_id": 34532,
"hgvs_c": "c.2893C>T",
"hgvs_p": "p.Gln965*",
"transcript": "NM_001143967.2",
"protein_id": "NP_001137439.1",
"transcript_support_level": null,
"aa_start": 965,
"aa_end": null,
"aa_length": 1288,
"cds_start": 2893,
"cds_end": null,
"cds_length": 3867,
"cdna_start": 2987,
"cdna_end": null,
"cdna_length": 4197,
"mane_select": "ENST00000400522.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFCAB8",
"gene_hgnc_id": 34532,
"hgvs_c": "c.2893C>T",
"hgvs_p": "p.Gln965*",
"transcript": "ENST00000400522.9",
"protein_id": "ENSP00000383366.5",
"transcript_support_level": 5,
"aa_start": 965,
"aa_end": null,
"aa_length": 1288,
"cds_start": 2893,
"cds_end": null,
"cds_length": 3867,
"cdna_start": 2987,
"cdna_end": null,
"cdna_length": 4197,
"mane_select": "NM_001143967.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFCAB8",
"gene_hgnc_id": 34532,
"hgvs_c": "c.2341C>T",
"hgvs_p": "p.Gln781*",
"transcript": "XM_024451881.1",
"protein_id": "XP_024307649.1",
"transcript_support_level": null,
"aa_start": 781,
"aa_end": null,
"aa_length": 1104,
"cds_start": 2341,
"cds_end": null,
"cds_length": 3315,
"cdna_start": 2547,
"cdna_end": null,
"cdna_length": 3757,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFCAB8",
"gene_hgnc_id": 34532,
"hgvs_c": "c.2893C>T",
"hgvs_p": "p.Gln965*",
"transcript": "XM_024451882.2",
"protein_id": "XP_024307650.1",
"transcript_support_level": null,
"aa_start": 965,
"aa_end": null,
"aa_length": 1097,
"cds_start": 2893,
"cds_end": null,
"cds_length": 3294,
"cdna_start": 2987,
"cdna_end": null,
"cdna_length": 3453,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFCAB8",
"gene_hgnc_id": 34532,
"hgvs_c": "c.1090C>T",
"hgvs_p": "p.Gln364*",
"transcript": "XM_024451884.2",
"protein_id": "XP_024307652.1",
"transcript_support_level": null,
"aa_start": 364,
"aa_end": null,
"aa_length": 687,
"cds_start": 1090,
"cds_end": null,
"cds_length": 2064,
"cdna_start": 1203,
"cdna_end": null,
"cdna_length": 2413,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFCAB8",
"gene_hgnc_id": 34532,
"hgvs_c": "c.967C>T",
"hgvs_p": "p.Gln323*",
"transcript": "XM_024451886.1",
"protein_id": "XP_024307654.1",
"transcript_support_level": null,
"aa_start": 323,
"aa_end": null,
"aa_length": 646,
"cds_start": 967,
"cds_end": null,
"cds_length": 1941,
"cdna_start": 1123,
"cdna_end": null,
"cdna_length": 2333,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFCAB8",
"gene_hgnc_id": 34532,
"hgvs_c": "c.967C>T",
"hgvs_p": "p.Gln323*",
"transcript": "XM_024451887.1",
"protein_id": "XP_024307655.1",
"transcript_support_level": null,
"aa_start": 323,
"aa_end": null,
"aa_length": 646,
"cds_start": 967,
"cds_end": null,
"cds_length": 1941,
"cdna_start": 1059,
"cdna_end": null,
"cdna_length": 2269,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 22,
"intron_rank_end": null,
"gene_symbol": "EFCAB8",
"gene_hgnc_id": 34532,
"hgvs_c": "c.2790+12402C>T",
"hgvs_p": null,
"transcript": "XM_024451883.2",
"protein_id": "XP_024307651.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 934,
"cds_start": -4,
"cds_end": null,
"cds_length": 2805,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2988,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "EFCAB8",
"gene_hgnc_id": 34532,
"dbsnp": "rs13045180",
"frequency_reference_population": 0.1735256,
"hom_count_reference_population": 7380,
"allele_count_reference_population": 72322,
"gnomad_exomes_af": 0.183508,
"gnomad_genomes_af": 0.156172,
"gnomad_exomes_ac": 48553,
"gnomad_genomes_ac": 23769,
"gnomad_exomes_homalt": 5021,
"gnomad_genomes_homalt": 2359,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.36000001430511475,
"computational_prediction_selected": "Benign",
"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": -0.36,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.422,
"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": -8,
"acmg_classification": "Benign",
"acmg_criteria": "BA1",
"acmg_by_gene": [
{
"score": -8,
"benign_score": 8,
"pathogenic_score": 0,
"criteria": [
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000400522.9",
"gene_symbol": "EFCAB8",
"hgnc_id": 34532,
"effects": [
"stop_gained"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2893C>T",
"hgvs_p": "p.Gln965*"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}