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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: 17-8003170-CCTGCTT-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=8003170&ref=CCTGCTT&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 8003170,
"ref": "CCTGCTT",
"alt": "C",
"effect": "disruptive_inframe_deletion",
"transcript": "NM_000180.4",
"consequences": [
{
"aa_ref": "LLL",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GUCY2D",
"gene_hgnc_id": 4689,
"hgvs_c": "c.129_134delTCTGCT",
"hgvs_p": "p.Leu44_Leu45del",
"transcript": "NM_000180.4",
"protein_id": "NP_000171.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 1103,
"cds_start": 129,
"cds_end": null,
"cds_length": 3312,
"cdna_start": 258,
"cdna_end": null,
"cdna_length": 3680,
"mane_select": "ENST00000254854.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000180.4"
},
{
"aa_ref": "LLL",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GUCY2D",
"gene_hgnc_id": 4689,
"hgvs_c": "c.129_134delTCTGCT",
"hgvs_p": "p.Leu44_Leu45del",
"transcript": "ENST00000254854.5",
"protein_id": "ENSP00000254854.4",
"transcript_support_level": 1,
"aa_start": 43,
"aa_end": null,
"aa_length": 1103,
"cds_start": 129,
"cds_end": null,
"cds_length": 3312,
"cdna_start": 258,
"cdna_end": null,
"cdna_length": 3680,
"mane_select": "NM_000180.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000254854.5"
},
{
"aa_ref": "LLL",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GUCY2D",
"gene_hgnc_id": 4689,
"hgvs_c": "c.129_134delTCTGCT",
"hgvs_p": "p.Leu44_Leu45del",
"transcript": "XM_011523816.2",
"protein_id": "XP_011522118.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 1103,
"cds_start": 129,
"cds_end": null,
"cds_length": 3312,
"cdna_start": 138,
"cdna_end": null,
"cdna_length": 6660,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011523816.2"
}
],
"gene_symbol": "GUCY2D",
"gene_hgnc_id": 4689,
"dbsnp": "rs552184470",
"frequency_reference_population": 0.0032614185,
"hom_count_reference_population": 21,
"allele_count_reference_population": 4933,
"gnomad_exomes_af": 0.00340284,
"gnomad_genomes_af": 0.00199742,
"gnomad_exomes_ac": 4629,
"gnomad_genomes_ac": 304,
"gnomad_exomes_homalt": 17,
"gnomad_genomes_homalt": 4,
"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": 4.317,
"phylop100way_prediction": "Uncertain_significance",
"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": -8,
"acmg_classification": "Benign",
"acmg_criteria": "BS1,BS2",
"acmg_by_gene": [
{
"score": -8,
"benign_score": 8,
"pathogenic_score": 0,
"criteria": [
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_000180.4",
"gene_symbol": "GUCY2D",
"hgnc_id": 4689,
"effects": [
"disruptive_inframe_deletion"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.129_134delTCTGCT",
"hgvs_p": "p.Leu44_Leu45del"
}
],
"clinvar_disease": " 1, central areolar, congenital stationary, type1i,Abnormal electroretinogram,Choroidal dystrophy,Cone-rod dystrophy 6,GUCY2D-related disorder,GUCY2D-related recessive retinopathy,Leber congenital amaurosis 1,Night blindness,Nystagmus,Retinal dystrophy,not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "reviewed by expert panel",
"clinvar_submissions_summary": "LP:3 US:7 LB:3 B:1",
"phenotype_combined": "Nystagmus;Abnormal electroretinogram|not provided|not specified|Cone-rod dystrophy 6|Cone-rod dystrophy 6;Leber congenital amaurosis 1|Choroidal dystrophy, central areolar, 1|Retinal dystrophy|GUCY2D-related recessive retinopathy|Leber congenital amaurosis 1|GUCY2D-related disorder|Cone-rod dystrophy 6;Choroidal dystrophy, central areolar, 1;Night blindness, congenital stationary, type1i;Leber congenital amaurosis 1",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}