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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: 19-33302267-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=33302267&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 33302267,
"ref": "C",
"alt": "A",
"effect": "stop_gained",
"transcript": "ENST00000498907.3",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"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.148G>T",
"hgvs_p": "p.Glu50*",
"transcript": "NM_004364.5",
"protein_id": "NP_004355.2",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 358,
"cds_start": 148,
"cds_end": null,
"cds_length": 1077,
"cdna_start": 268,
"cdna_end": null,
"cdna_length": 2601,
"mane_select": "ENST00000498907.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"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.148G>T",
"hgvs_p": "p.Glu50*",
"transcript": "ENST00000498907.3",
"protein_id": "ENSP00000427514.1",
"transcript_support_level": 6,
"aa_start": 50,
"aa_end": null,
"aa_length": 358,
"cds_start": 148,
"cds_end": null,
"cds_length": 1077,
"cdna_start": 268,
"cdna_end": null,
"cdna_length": 2601,
"mane_select": "NM_004364.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"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.253G>T",
"hgvs_p": "p.Glu85*",
"transcript": "NM_001287424.2",
"protein_id": "NP_001274353.1",
"transcript_support_level": null,
"aa_start": 85,
"aa_end": null,
"aa_length": 393,
"cds_start": 253,
"cds_end": null,
"cds_length": 1182,
"cdna_start": 268,
"cdna_end": null,
"cdna_length": 2601,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"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.106G>T",
"hgvs_p": "p.Glu36*",
"transcript": "NM_001287435.2",
"protein_id": "NP_001274364.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 344,
"cds_start": 106,
"cds_end": null,
"cds_length": 1035,
"cdna_start": 268,
"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.-210G>T",
"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+468C>A",
"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": "rs121912791",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": 0,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 0,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6600000262260437,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "BayesDel_noAF",
"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": 0.66,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 2.436,
"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": 11,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5",
"acmg_by_gene": [
{
"score": 11,
"benign_score": 0,
"pathogenic_score": 11,
"criteria": [
"PVS1",
"PM2",
"PP5"
],
"verdict": "Pathogenic",
"transcript": "ENST00000498907.3",
"gene_symbol": "CEBPA",
"hgnc_id": 1833,
"effects": [
"stop_gained"
],
"inheritance_mode": "AD",
"hgvs_c": "c.148G>T",
"hgvs_p": "p.Glu50*"
},
{
"score": 7,
"benign_score": 0,
"pathogenic_score": 7,
"criteria": [
"PM2",
"PP3_Strong",
"PP5"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000718467.1",
"gene_symbol": "CEBPA-DT",
"hgnc_id": 25710,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.46+468C>A",
"hgvs_p": null
}
],
"clinvar_disease": "Acute myeloid leukemia",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Acute myeloid leukemia",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}