← Back to variant description
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: 8-47960110-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=47960110&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 47960110,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000314191.7",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 86,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKDC",
"gene_hgnc_id": 9413,
"hgvs_c": "c.17C>G",
"hgvs_p": "p.Ala6Gly",
"transcript": "NM_006904.7",
"protein_id": "NP_008835.5",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 4128,
"cds_start": 17,
"cds_end": null,
"cds_length": 12387,
"cdna_start": 27,
"cdna_end": null,
"cdna_length": 13459,
"mane_select": "ENST00000314191.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 86,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKDC",
"gene_hgnc_id": 9413,
"hgvs_c": "c.17C>G",
"hgvs_p": "p.Ala6Gly",
"transcript": "ENST00000314191.7",
"protein_id": "ENSP00000313420.3",
"transcript_support_level": 1,
"aa_start": 6,
"aa_end": null,
"aa_length": 4128,
"cds_start": 17,
"cds_end": null,
"cds_length": 12387,
"cdna_start": 27,
"cdna_end": null,
"cdna_length": 13459,
"mane_select": "NM_006904.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 85,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKDC",
"gene_hgnc_id": 9413,
"hgvs_c": "c.17C>G",
"hgvs_p": "p.Ala6Gly",
"transcript": "ENST00000338368.7",
"protein_id": "ENSP00000345182.4",
"transcript_support_level": 1,
"aa_start": 6,
"aa_end": null,
"aa_length": 4097,
"cds_start": 17,
"cds_end": null,
"cds_length": 12294,
"cdna_start": 69,
"cdna_end": null,
"cdna_length": 12784,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 85,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKDC",
"gene_hgnc_id": 9413,
"hgvs_c": "c.17C>G",
"hgvs_p": "p.Ala6Gly",
"transcript": "NM_001081640.2",
"protein_id": "NP_001075109.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 4097,
"cds_start": 17,
"cds_end": null,
"cds_length": 12294,
"cdna_start": 27,
"cdna_end": null,
"cdna_length": 13366,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKDC",
"gene_hgnc_id": 9413,
"hgvs_c": "n.58C>G",
"hgvs_p": null,
"transcript": "ENST00000697591.1",
"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": 3522,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM4",
"gene_hgnc_id": 6947,
"hgvs_c": "c.-225G>C",
"hgvs_p": null,
"transcript": "ENST00000518221.5",
"protein_id": "ENSP00000430329.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 139,
"cds_start": -4,
"cds_end": null,
"cds_length": 422,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 572,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "PRKDC",
"gene_hgnc_id": 9413,
"dbsnp": "rs754453280",
"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": 0.033612847328186035,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.031,
"revel_prediction": "Benign",
"alphamissense_score": 0.0679,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.79,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.332,
"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": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000314191.7",
"gene_symbol": "PRKDC",
"hgnc_id": 9413,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.17C>G",
"hgvs_p": "p.Ala6Gly"
},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000518221.5",
"gene_symbol": "MCM4",
"hgnc_id": 6947,
"effects": [
"upstream_gene_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.-225G>C",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}