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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: 19-33302346-C-CG (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=33302346&ref=C&alt=CG&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 33302346,
"ref": "C",
"alt": "CG",
"effect": "frameshift_variant",
"transcript": "ENST00000498907.3",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEBPA",
"gene_hgnc_id": 1833,
"hgvs_c": "c.68dupC",
"hgvs_p": "p.His24fs",
"transcript": "NM_004364.5",
"protein_id": "NP_004355.2",
"transcript_support_level": null,
"aa_start": 23,
"aa_end": null,
"aa_length": 358,
"cds_start": 68,
"cds_end": null,
"cds_length": 1077,
"cdna_start": 188,
"cdna_end": null,
"cdna_length": 2601,
"mane_select": "ENST00000498907.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P?",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEBPA",
"gene_hgnc_id": 1833,
"hgvs_c": "c.68dupC",
"hgvs_p": "p.His24fs",
"transcript": "ENST00000498907.3",
"protein_id": "ENSP00000427514.1",
"transcript_support_level": 6,
"aa_start": 23,
"aa_end": null,
"aa_length": 358,
"cds_start": 68,
"cds_end": null,
"cds_length": 1077,
"cdna_start": 188,
"cdna_end": null,
"cdna_length": 2601,
"mane_select": "NM_004364.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEBPA",
"gene_hgnc_id": 1833,
"hgvs_c": "c.173dupC",
"hgvs_p": "p.His59fs",
"transcript": "NM_001287424.2",
"protein_id": "NP_001274353.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 393,
"cds_start": 173,
"cds_end": null,
"cds_length": 1182,
"cdna_start": 188,
"cdna_end": null,
"cdna_length": 2601,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEBPA",
"gene_hgnc_id": 1833,
"hgvs_c": "c.26dupC",
"hgvs_p": "p.His10fs",
"transcript": "NM_001287435.2",
"protein_id": "NP_001274364.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 344,
"cds_start": 26,
"cds_end": null,
"cds_length": 1035,
"cdna_start": 188,
"cdna_end": null,
"cdna_length": 2601,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEBPA",
"gene_hgnc_id": 1833,
"hgvs_c": "c.-290dupC",
"hgvs_p": null,
"transcript": "NM_001285829.2",
"protein_id": "NP_001272758.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 239,
"cds_start": -4,
"cds_end": null,
"cds_length": 720,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2601,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CEBPA-DT",
"gene_hgnc_id": 25710,
"hgvs_c": "n.46+553dupG",
"hgvs_p": null,
"transcript": "ENST00000718467.1",
"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": 722,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CEBPA",
"gene_hgnc_id": 1833,
"dbsnp": "rs137852728",
"frequency_reference_population": 0.00000334709,
"hom_count_reference_population": 0,
"allele_count_reference_population": 4,
"gnomad_exomes_af": 0.00000334709,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 4,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"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": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 0.177,
"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": "ENST00000498907.3",
"gene_symbol": "CEBPA",
"hgnc_id": 1833,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.68dupC",
"hgvs_p": "p.His24fs"
},
{
"score": 10,
"benign_score": 0,
"pathogenic_score": 10,
"criteria": [
"PM2",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000718467.1",
"gene_symbol": "CEBPA-DT",
"hgnc_id": 25710,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.46+553dupG",
"hgvs_p": null
}
],
"clinvar_disease": "Acute myeloid leukemia,not provided",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:2 O:1",
"phenotype_combined": "Acute myeloid leukemia|not provided",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}