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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: 17-40392636-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=40392636&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 40392636,
"ref": "C",
"alt": "A",
"effect": "stop_gained",
"transcript": "NM_001067.4",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOP2A",
"gene_hgnc_id": 11989,
"hgvs_c": "c.3913G>T",
"hgvs_p": "p.Glu1305*",
"transcript": "NM_001067.4",
"protein_id": "NP_001058.2",
"transcript_support_level": null,
"aa_start": 1305,
"aa_end": null,
"aa_length": 1531,
"cds_start": 3913,
"cds_end": null,
"cds_length": 4596,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000423485.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001067.4"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOP2A",
"gene_hgnc_id": 11989,
"hgvs_c": "c.3913G>T",
"hgvs_p": "p.Glu1305*",
"transcript": "ENST00000423485.6",
"protein_id": "ENSP00000411532.1",
"transcript_support_level": 1,
"aa_start": 1305,
"aa_end": null,
"aa_length": 1531,
"cds_start": 3913,
"cds_end": null,
"cds_length": 4596,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001067.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000423485.6"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOP2A",
"gene_hgnc_id": 11989,
"hgvs_c": "c.3730G>T",
"hgvs_p": "p.Glu1244*",
"transcript": "ENST00000917864.1",
"protein_id": "ENSP00000587923.1",
"transcript_support_level": null,
"aa_start": 1244,
"aa_end": null,
"aa_length": 1470,
"cds_start": 3730,
"cds_end": null,
"cds_length": 4413,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917864.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOP2A",
"gene_hgnc_id": 11989,
"hgvs_c": "c.3298G>T",
"hgvs_p": "p.Glu1100*",
"transcript": "ENST00000917865.1",
"protein_id": "ENSP00000587924.1",
"transcript_support_level": null,
"aa_start": 1100,
"aa_end": null,
"aa_length": 1326,
"cds_start": 3298,
"cds_end": null,
"cds_length": 3981,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917865.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOP2A",
"gene_hgnc_id": 11989,
"hgvs_c": "c.3877G>T",
"hgvs_p": "p.Glu1293*",
"transcript": "XM_005257632.2",
"protein_id": "XP_005257689.1",
"transcript_support_level": null,
"aa_start": 1293,
"aa_end": null,
"aa_length": 1519,
"cds_start": 3877,
"cds_end": null,
"cds_length": 4560,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005257632.2"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOP2A",
"gene_hgnc_id": 11989,
"hgvs_c": "c.3913G>T",
"hgvs_p": "p.Glu1305*",
"transcript": "XM_011525165.3",
"protein_id": "XP_011523467.1",
"transcript_support_level": null,
"aa_start": 1305,
"aa_end": null,
"aa_length": 1364,
"cds_start": 3913,
"cds_end": null,
"cds_length": 4095,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011525165.3"
}
],
"gene_symbol": "TOP2A",
"gene_hgnc_id": 11989,
"dbsnp": "rs199816029",
"frequency_reference_population": 0.0000020533544,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 0.00000205335,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6299999952316284,
"computational_prediction_selected": "Pathogenic",
"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": 0.63,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 3.539,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001067.4",
"gene_symbol": "TOP2A",
"hgnc_id": 11989,
"effects": [
"stop_gained"
],
"inheritance_mode": "AD",
"hgvs_c": "c.3913G>T",
"hgvs_p": "p.Glu1305*"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}