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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: 12-67297652-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=67297652&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 67297652,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000545606.6",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAND1",
"gene_hgnc_id": 30688,
"hgvs_c": "c.737G>A",
"hgvs_p": "p.Gly246Asp",
"transcript": "NM_018448.5",
"protein_id": "NP_060918.2",
"transcript_support_level": null,
"aa_start": 246,
"aa_end": null,
"aa_length": 1230,
"cds_start": 737,
"cds_end": null,
"cds_length": 3693,
"cdna_start": 1097,
"cdna_end": null,
"cdna_length": 11176,
"mane_select": "ENST00000545606.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAND1",
"gene_hgnc_id": 30688,
"hgvs_c": "c.737G>A",
"hgvs_p": "p.Gly246Asp",
"transcript": "ENST00000545606.6",
"protein_id": "ENSP00000442318.1",
"transcript_support_level": 1,
"aa_start": 246,
"aa_end": null,
"aa_length": 1230,
"cds_start": 737,
"cds_end": null,
"cds_length": 3693,
"cdna_start": 1097,
"cdna_end": null,
"cdna_length": 11176,
"mane_select": "NM_018448.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAND1",
"gene_hgnc_id": 30688,
"hgvs_c": "c.665G>A",
"hgvs_p": "p.Gly222Asp",
"transcript": "NM_001329674.2",
"protein_id": "NP_001316603.1",
"transcript_support_level": null,
"aa_start": 222,
"aa_end": null,
"aa_length": 1206,
"cds_start": 665,
"cds_end": null,
"cds_length": 3621,
"cdna_start": 1224,
"cdna_end": null,
"cdna_length": 11303,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAND1",
"gene_hgnc_id": 30688,
"hgvs_c": "c.665G>A",
"hgvs_p": "p.Gly222Asp",
"transcript": "NM_001329675.2",
"protein_id": "NP_001316604.1",
"transcript_support_level": null,
"aa_start": 222,
"aa_end": null,
"aa_length": 1206,
"cds_start": 665,
"cds_end": null,
"cds_length": 3621,
"cdna_start": 1218,
"cdna_end": null,
"cdna_length": 11297,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAND1",
"gene_hgnc_id": 30688,
"hgvs_c": "c.638G>A",
"hgvs_p": "p.Gly213Asp",
"transcript": "NM_001329676.2",
"protein_id": "NP_001316605.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 1197,
"cds_start": 638,
"cds_end": null,
"cds_length": 3594,
"cdna_start": 1207,
"cdna_end": null,
"cdna_length": 11286,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAND1",
"gene_hgnc_id": 30688,
"hgvs_c": "n.448G>A",
"hgvs_p": null,
"transcript": "ENST00000535146.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 560,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAND1",
"gene_hgnc_id": 30688,
"hgvs_c": "n.383G>A",
"hgvs_p": null,
"transcript": "ENST00000540319.5",
"protein_id": "ENSP00000445794.1",
"transcript_support_level": 2,
"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": 2786,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CAND1",
"gene_hgnc_id": 30688,
"dbsnp": "rs193921038",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8760606050491333,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.622,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.999,
"alphamissense_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.31,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 10.003,
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000545606.6",
"gene_symbol": "CAND1",
"hgnc_id": 30688,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.737G>A",
"hgvs_p": "p.Gly246Asp"
}
],
"clinvar_disease": "Prostate cancer",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Prostate cancer",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}