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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: 4-80202095-C-CCAGCAGCAG (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=80202095&ref=C&alt=CCAGCAGCAG&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 80202095,
"ref": "C",
"alt": "CCAGCAGCAG",
"effect": "conservative_inframe_insertion",
"transcript": "ENST00000415738.3",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "QQQE",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDM8",
"gene_hgnc_id": 13993,
"hgvs_c": "c.643_651dupCAGCAGCAG",
"hgvs_p": "p.Gln215_Gln217dup",
"transcript": "NM_001099403.2",
"protein_id": "NP_001092873.1",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 689,
"cds_start": 652,
"cds_end": null,
"cds_length": 2070,
"cdna_start": 915,
"cdna_end": null,
"cdna_length": 3130,
"mane_select": "ENST00000415738.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "QQQE",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDM8",
"gene_hgnc_id": 13993,
"hgvs_c": "c.643_651dupCAGCAGCAG",
"hgvs_p": "p.Gln215_Gln217dup",
"transcript": "ENST00000415738.3",
"protein_id": "ENSP00000406998.2",
"transcript_support_level": 1,
"aa_start": 218,
"aa_end": null,
"aa_length": 689,
"cds_start": 652,
"cds_end": null,
"cds_length": 2070,
"cdna_start": 915,
"cdna_end": null,
"cdna_length": 3130,
"mane_select": "NM_001099403.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "QQQE",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDM8",
"gene_hgnc_id": 13993,
"hgvs_c": "c.643_651dupCAGCAGCAG",
"hgvs_p": "p.Gln215_Gln217dup",
"transcript": "ENST00000339711.8",
"protein_id": "ENSP00000339764.4",
"transcript_support_level": 1,
"aa_start": 218,
"aa_end": null,
"aa_length": 689,
"cds_start": 652,
"cds_end": null,
"cds_length": 2070,
"cdna_start": 1883,
"cdna_end": null,
"cdna_length": 4095,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "QQQE",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDM8",
"gene_hgnc_id": 13993,
"hgvs_c": "c.643_651dupCAGCAGCAG",
"hgvs_p": "p.Gln215_Gln217dup",
"transcript": "ENST00000515013.5",
"protein_id": "ENSP00000425149.1",
"transcript_support_level": 1,
"aa_start": 218,
"aa_end": null,
"aa_length": 426,
"cds_start": 652,
"cds_end": null,
"cds_length": 1283,
"cdna_start": 1883,
"cdna_end": null,
"cdna_length": 2514,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "QQQE",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDM8",
"gene_hgnc_id": 13993,
"hgvs_c": "c.643_651dupCAGCAGCAG",
"hgvs_p": "p.Gln215_Gln217dup",
"transcript": "NM_020226.4",
"protein_id": "NP_064611.3",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 689,
"cds_start": 652,
"cds_end": null,
"cds_length": 2070,
"cdna_start": 1883,
"cdna_end": null,
"cdna_length": 4098,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "QQQE",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDM8",
"gene_hgnc_id": 13993,
"hgvs_c": "c.643_651dupCAGCAGCAG",
"hgvs_p": "p.Gln215_Gln217dup",
"transcript": "ENST00000504452.5",
"protein_id": "ENSP00000423985.1",
"transcript_support_level": 5,
"aa_start": 218,
"aa_end": null,
"aa_length": 689,
"cds_start": 652,
"cds_end": null,
"cds_length": 2070,
"cdna_start": 1491,
"cdna_end": null,
"cdna_length": 3706,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "PRDM8",
"gene_hgnc_id": 13993,
"dbsnp": "rs748593482",
"frequency_reference_population": 6.866745e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.86675e-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": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": -0.336,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP3",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP3"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000415738.3",
"gene_symbol": "PRDM8",
"hgnc_id": 13993,
"effects": [
"conservative_inframe_insertion"
],
"inheritance_mode": "AR",
"hgvs_c": "c.643_651dupCAGCAGCAG",
"hgvs_p": "p.Gln215_Gln217dup"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}