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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: 19-33302241-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=33302241&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 33302241,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000498907.3",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.174C>T",
"hgvs_p": "p.His58His",
"transcript": "NM_004364.5",
"protein_id": "NP_004355.2",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 358,
"cds_start": 174,
"cds_end": null,
"cds_length": 1077,
"cdna_start": 294,
"cdna_end": null,
"cdna_length": 2601,
"mane_select": "ENST00000498907.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.174C>T",
"hgvs_p": "p.His58His",
"transcript": "ENST00000498907.3",
"protein_id": "ENSP00000427514.1",
"transcript_support_level": 6,
"aa_start": 58,
"aa_end": null,
"aa_length": 358,
"cds_start": 174,
"cds_end": null,
"cds_length": 1077,
"cdna_start": 294,
"cdna_end": null,
"cdna_length": 2601,
"mane_select": "NM_004364.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_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.-184C>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": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.279C>T",
"hgvs_p": "p.His93His",
"transcript": "NM_001287424.2",
"protein_id": "NP_001274353.1",
"transcript_support_level": null,
"aa_start": 93,
"aa_end": null,
"aa_length": 393,
"cds_start": 279,
"cds_end": null,
"cds_length": 1182,
"cdna_start": 294,
"cdna_end": null,
"cdna_length": 2601,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.132C>T",
"hgvs_p": "p.His44His",
"transcript": "NM_001287435.2",
"protein_id": "NP_001274364.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 344,
"cds_start": 132,
"cds_end": null,
"cds_length": 1035,
"cdna_start": 294,
"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.-184C>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+442G>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": "rs878854699",
"frequency_reference_population": 7.4658175e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 7.46582e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.4099999964237213,
"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": -0.41,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.558,
"phylop100way_prediction": "Pathogenic",
"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": "PM2,BP4_Moderate,BP6_Very_Strong",
"acmg_by_gene": [
{
"score": -8,
"benign_score": 10,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate",
"BP6_Very_Strong"
],
"verdict": "Benign",
"transcript": "ENST00000498907.3",
"gene_symbol": "CEBPA",
"hgnc_id": 1833,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.174C>T",
"hgvs_p": "p.His58His"
},
{
"score": -8,
"benign_score": 10,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate",
"BP6_Very_Strong"
],
"verdict": "Benign",
"transcript": "ENST00000718467.1",
"gene_symbol": "CEBPA-DT",
"hgnc_id": 25710,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.46+442G>A",
"hgvs_p": null
}
],
"clinvar_disease": "Acute myeloid leukemia",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "Acute myeloid leukemia",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}