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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: 17-44372421-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=44372421&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 44372421,
"ref": "G",
"alt": "T",
"effect": "splice_region_variant,synonymous_variant",
"transcript": "ENST00000262407.6",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA2B",
"gene_hgnc_id": 6138,
"hgvs_c": "c.3063C>A",
"hgvs_p": "p.Val1021Val",
"transcript": "NM_000419.5",
"protein_id": "NP_000410.2",
"transcript_support_level": null,
"aa_start": 1021,
"aa_end": null,
"aa_length": 1039,
"cds_start": 3063,
"cds_end": null,
"cds_length": 3120,
"cdna_start": 3239,
"cdna_end": null,
"cdna_length": 3479,
"mane_select": "ENST00000262407.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA2B",
"gene_hgnc_id": 6138,
"hgvs_c": "c.3063C>A",
"hgvs_p": "p.Val1021Val",
"transcript": "ENST00000262407.6",
"protein_id": "ENSP00000262407.5",
"transcript_support_level": 1,
"aa_start": 1021,
"aa_end": null,
"aa_length": 1039,
"cds_start": 3063,
"cds_end": null,
"cds_length": 3120,
"cdna_start": 3239,
"cdna_end": null,
"cdna_length": 3479,
"mane_select": "NM_000419.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA2B",
"gene_hgnc_id": 6138,
"hgvs_c": "c.2376C>A",
"hgvs_p": "p.Val792Val",
"transcript": "ENST00000648408.1",
"protein_id": "ENSP00000498119.1",
"transcript_support_level": null,
"aa_start": 792,
"aa_end": null,
"aa_length": 810,
"cds_start": 2376,
"cds_end": null,
"cds_length": 2433,
"cdna_start": 2377,
"cdna_end": null,
"cdna_length": 2618,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA2B",
"gene_hgnc_id": 6138,
"hgvs_c": "c.255C>A",
"hgvs_p": "p.Val85Val",
"transcript": "ENST00000587295.5",
"protein_id": "ENSP00000467269.1",
"transcript_support_level": 3,
"aa_start": 85,
"aa_end": null,
"aa_length": 103,
"cds_start": 255,
"cds_end": null,
"cds_length": 312,
"cdna_start": 256,
"cdna_end": null,
"cdna_length": 496,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA2B",
"gene_hgnc_id": 6138,
"hgvs_c": "c.3114C>A",
"hgvs_p": "p.Val1038Val",
"transcript": "XM_011524749.2",
"protein_id": "XP_011523051.2",
"transcript_support_level": null,
"aa_start": 1038,
"aa_end": null,
"aa_length": 1056,
"cds_start": 3114,
"cds_end": null,
"cds_length": 3171,
"cdna_start": 3137,
"cdna_end": null,
"cdna_length": 3377,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA2B",
"gene_hgnc_id": 6138,
"hgvs_c": "c.3099C>A",
"hgvs_p": "p.Val1033Val",
"transcript": "XM_011524750.2",
"protein_id": "XP_011523052.2",
"transcript_support_level": null,
"aa_start": 1033,
"aa_end": null,
"aa_length": 1051,
"cds_start": 3099,
"cds_end": null,
"cds_length": 3156,
"cdna_start": 3122,
"cdna_end": null,
"cdna_length": 3362,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ITGA2B",
"gene_hgnc_id": 6138,
"dbsnp": "rs5910",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": 6.84172e-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": -0.8799999952316284,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.7799999713897705,
"splice_prediction_selected": "Pathogenic",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.88,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -3.871,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.78,
"spliceai_max_prediction": "Pathogenic",
"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": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000262407.6",
"gene_symbol": "ITGA2B",
"hgnc_id": 6138,
"effects": [
"splice_region_variant",
"synonymous_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.3063C>A",
"hgvs_p": "p.Val1021Val"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}