← 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: 12-76346602-ACC-TGA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=76346602&ref=ACC&alt=TGA&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PP2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "BBS10",
"hgnc_id": 26291,
"hgvs_c": "c.1381_1383delGGTinsTCA",
"hgvs_p": "p.Gly461Ser",
"inheritance_mode": "AR",
"pathogenic_score": 1,
"score": 1,
"transcript": "NM_024685.4",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000306428",
"hgnc_id": null,
"hgvs_c": "n.175-555_175-553delACCinsTGA",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": 0,
"transcript": "ENST00000818399.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP2",
"acmg_score": 1,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "TGA",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "12",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 723,
"aa_ref": "G",
"aa_start": 461,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3568,
"cdna_start": 1440,
"cds_end": null,
"cds_length": 2172,
"cds_start": 1381,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_024685.4",
"gene_hgnc_id": 26291,
"gene_symbol": "BBS10",
"hgvs_c": "c.1381_1383delGGTinsTCA",
"hgvs_p": "p.Gly461Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000650064.2",
"protein_coding": true,
"protein_id": "NP_078961.3",
"strand": false,
"transcript": "NM_024685.4",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 723,
"aa_ref": "G",
"aa_start": 461,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3568,
"cdna_start": 1440,
"cds_end": null,
"cds_length": 2172,
"cds_start": 1381,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000650064.2",
"gene_hgnc_id": 26291,
"gene_symbol": "BBS10",
"hgvs_c": "c.1381_1383delGGTinsTCA",
"hgvs_p": "p.Gly461Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_024685.4",
"protein_coding": true,
"protein_id": "ENSP00000497413.1",
"strand": false,
"transcript": "ENST00000650064.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 694,
"aa_ref": "G",
"aa_start": 432,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3467,
"cdna_start": 1375,
"cds_end": null,
"cds_length": 2085,
"cds_start": 1294,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000865227.1",
"gene_hgnc_id": 26291,
"gene_symbol": "BBS10",
"hgvs_c": "c.1294_1296delGGTinsTCA",
"hgvs_p": "p.Gly432Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000535286.1",
"strand": false,
"transcript": "ENST00000865227.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 762,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000818399.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000306428",
"hgvs_c": "n.175-555_175-553delACCinsTGA",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000818399.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 787,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000818400.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000306428",
"hgvs_c": "n.202-555_202-553delACCinsTGA",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000818400.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": null,
"effect": "missense_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 26291,
"gene_symbol": "BBS10",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Benign",
"phylop100way_score": 1.231,
"pos": 76346602,
"ref": "ACC",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": null,
"splice_score_selected": null,
"splice_source_selected": null,
"spliceai_max_prediction": null,
"spliceai_max_score": null,
"transcript": "NM_024685.4"
}
]
}