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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: 17-8121854-C-CGGGGCGGTTT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=8121854&ref=C&alt=CGGGGCGGTTT&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 8121854,
"ref": "C",
"alt": "CGGGGCGGTTT",
"effect": "frameshift_variant",
"transcript": "ENST00000541682.7",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "QTAP?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HES7",
"gene_hgnc_id": 15977,
"hgvs_c": "c.400_409dupAAACCGCCCC",
"hgvs_p": "p.Arg137fs",
"transcript": "NM_001165967.2",
"protein_id": "NP_001159439.1",
"transcript_support_level": null,
"aa_start": 137,
"aa_end": null,
"aa_length": 230,
"cds_start": 409,
"cds_end": null,
"cds_length": 693,
"cdna_start": 431,
"cdna_end": null,
"cdna_length": 1694,
"mane_select": "ENST00000541682.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "QTAP?",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HES7",
"gene_hgnc_id": 15977,
"hgvs_c": "c.400_409dupAAACCGCCCC",
"hgvs_p": "p.Arg137fs",
"transcript": "ENST00000541682.7",
"protein_id": "ENSP00000446205.2",
"transcript_support_level": 1,
"aa_start": 137,
"aa_end": null,
"aa_length": 230,
"cds_start": 409,
"cds_end": null,
"cds_length": 693,
"cdna_start": 431,
"cdna_end": null,
"cdna_length": 1694,
"mane_select": "NM_001165967.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "QTAP?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HES7",
"gene_hgnc_id": 15977,
"hgvs_c": "c.385_394dupAAACCGCCCC",
"hgvs_p": "p.Arg132fs",
"transcript": "ENST00000317814.8",
"protein_id": "ENSP00000314774.4",
"transcript_support_level": 1,
"aa_start": 132,
"aa_end": null,
"aa_length": 225,
"cds_start": 394,
"cds_end": null,
"cds_length": 678,
"cdna_start": 394,
"cdna_end": null,
"cdna_length": 678,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "QTAP?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HES7",
"gene_hgnc_id": 15977,
"hgvs_c": "c.385_394dupAAACCGCCCC",
"hgvs_p": "p.Arg132fs",
"transcript": "NM_032580.4",
"protein_id": "NP_115969.2",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 225,
"cds_start": 394,
"cds_end": null,
"cds_length": 678,
"cdna_start": 416,
"cdna_end": null,
"cdna_length": 1679,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "QTAP?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HES7",
"gene_hgnc_id": 15977,
"hgvs_c": "c.376_385dupAAACCGCCCC",
"hgvs_p": "p.Arg129fs",
"transcript": "ENST00000577735.1",
"protein_id": "ENSP00000462491.1",
"transcript_support_level": 3,
"aa_start": 129,
"aa_end": null,
"aa_length": 144,
"cds_start": 385,
"cds_end": null,
"cds_length": 436,
"cdna_start": 603,
"cdna_end": null,
"cdna_length": 654,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "QTAP?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HES7",
"gene_hgnc_id": 15977,
"hgvs_c": "c.496_505dupAAACCGCCCC",
"hgvs_p": "p.Arg169fs",
"transcript": "XM_047436940.1",
"protein_id": "XP_047292896.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 262,
"cds_start": 505,
"cds_end": null,
"cds_length": 789,
"cdna_start": 1347,
"cdna_end": null,
"cdna_length": 2610,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "QTAP?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HES7",
"gene_hgnc_id": 15977,
"hgvs_c": "c.487_496dupAAACCGCCCC",
"hgvs_p": "p.Arg166fs",
"transcript": "XM_047436941.1",
"protein_id": "XP_047292897.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 259,
"cds_start": 496,
"cds_end": null,
"cds_length": 780,
"cdna_start": 1557,
"cdna_end": null,
"cdna_length": 2820,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "HES7",
"gene_hgnc_id": 15977,
"dbsnp": "rs398122970",
"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": 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": 1.732,
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP5_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP5_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000541682.7",
"gene_symbol": "HES7",
"hgnc_id": 15977,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.400_409dupAAACCGCCCC",
"hgvs_p": "p.Arg137fs"
}
],
"clinvar_disease": " autosomal recessive,Spondylocostal dysostosis 4,not provided",
"clinvar_classification": "Likely pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LP:1",
"phenotype_combined": "not provided|Spondylocostal dysostosis 4, autosomal recessive",
"pathogenicity_classification_combined": "Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}