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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: 3-49656921-C-CCAGCAGCTGCAG (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=49656921&ref=C&alt=CCAGCAGCTGCAG&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 49656921,
"ref": "C",
"alt": "CCAGCAGCTGCAG",
"effect": "disruptive_inframe_insertion",
"transcript": "ENST00000296452.5",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "LQQQL",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BSN",
"gene_hgnc_id": 1117,
"hgvs_c": "c.7386_7397dupGCAGCAGCAGCT",
"hgvs_p": "p.Leu2466_Glu2467insGlnGlnGlnLeu",
"transcript": "NM_003458.4",
"protein_id": "NP_003449.2",
"transcript_support_level": null,
"aa_start": 2466,
"aa_end": null,
"aa_length": 3926,
"cds_start": 7398,
"cds_end": null,
"cds_length": 11781,
"cdna_start": 7524,
"cdna_end": null,
"cdna_length": 15971,
"mane_select": "ENST00000296452.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "LQQQL",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BSN",
"gene_hgnc_id": 1117,
"hgvs_c": "c.7386_7397dupGCAGCAGCAGCT",
"hgvs_p": "p.Leu2466_Glu2467insGlnGlnGlnLeu",
"transcript": "ENST00000296452.5",
"protein_id": "ENSP00000296452.4",
"transcript_support_level": 1,
"aa_start": 2466,
"aa_end": null,
"aa_length": 3926,
"cds_start": 7398,
"cds_end": null,
"cds_length": 11781,
"cdna_start": 7524,
"cdna_end": null,
"cdna_length": 15971,
"mane_select": "NM_003458.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "LQQQL",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BSN",
"gene_hgnc_id": 1117,
"hgvs_c": "c.7386_7397dupGCAGCAGCAGCT",
"hgvs_p": "p.Leu2466_Glu2467insGlnGlnGlnLeu",
"transcript": "XM_047449149.1",
"protein_id": "XP_047305105.1",
"transcript_support_level": null,
"aa_start": 2466,
"aa_end": null,
"aa_length": 3926,
"cds_start": 7398,
"cds_end": null,
"cds_length": 11781,
"cdna_start": 7524,
"cdna_end": null,
"cdna_length": 13088,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "LQQQL",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BSN",
"gene_hgnc_id": 1117,
"hgvs_c": "c.7386_7397dupGCAGCAGCAGCT",
"hgvs_p": "p.Leu2466_Glu2467insGlnGlnGlnLeu",
"transcript": "XM_047449150.1",
"protein_id": "XP_047305106.1",
"transcript_support_level": null,
"aa_start": 2466,
"aa_end": null,
"aa_length": 3926,
"cds_start": 7398,
"cds_end": null,
"cds_length": 11781,
"cdna_start": 7524,
"cdna_end": null,
"cdna_length": 12920,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "LQQQL",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BSN",
"gene_hgnc_id": 1117,
"hgvs_c": "c.7386_7397dupGCAGCAGCAGCT",
"hgvs_p": "p.Leu2466_Glu2467insGlnGlnGlnLeu",
"transcript": "XM_047449151.1",
"protein_id": "XP_047305107.1",
"transcript_support_level": null,
"aa_start": 2466,
"aa_end": null,
"aa_length": 3926,
"cds_start": 7398,
"cds_end": null,
"cds_length": 11781,
"cdna_start": 7524,
"cdna_end": null,
"cdna_length": 12474,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "LQQQL",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BSN",
"gene_hgnc_id": 1117,
"hgvs_c": "c.7314_7325dupGCAGCAGCAGCT",
"hgvs_p": "p.Leu2442_Glu2443insGlnGlnGlnLeu",
"transcript": "XM_047449152.1",
"protein_id": "XP_047305108.1",
"transcript_support_level": null,
"aa_start": 2442,
"aa_end": null,
"aa_length": 3902,
"cds_start": 7326,
"cds_end": null,
"cds_length": 11709,
"cdna_start": 7452,
"cdna_end": null,
"cdna_length": 15899,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "BSN",
"gene_hgnc_id": 1117,
"dbsnp": "rs759806020",
"frequency_reference_population": 0.000021895336,
"hom_count_reference_population": 0,
"allele_count_reference_population": 35,
"gnomad_exomes_af": 0.0000207425,
"gnomad_genomes_af": 0.0000328498,
"gnomad_exomes_ac": 30,
"gnomad_genomes_ac": 5,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"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": 7.804,
"phylop100way_prediction": "Pathogenic",
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM4,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM4",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000296452.5",
"gene_symbol": "BSN",
"hgnc_id": 1117,
"effects": [
"disruptive_inframe_insertion"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.7386_7397dupGCAGCAGCAGCT",
"hgvs_p": "p.Leu2466_Glu2467insGlnGlnGlnLeu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}