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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: X-154999543-C-CT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=154999543&ref=C&alt=CT&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 154999543,
"ref": "C",
"alt": "CT",
"effect": "frameshift_variant",
"transcript": "ENST00000360256.9",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "K?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F8",
"gene_hgnc_id": 3546,
"hgvs_c": "c.200dupA",
"hgvs_p": "p.Thr68fs",
"transcript": "NM_000132.4",
"protein_id": "NP_000123.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 2351,
"cds_start": 200,
"cds_end": null,
"cds_length": 7056,
"cdna_start": 371,
"cdna_end": null,
"cdna_length": 9032,
"mane_select": "ENST00000360256.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K?",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F8",
"gene_hgnc_id": 3546,
"hgvs_c": "c.200dupA",
"hgvs_p": "p.Thr68fs",
"transcript": "ENST00000360256.9",
"protein_id": "ENSP00000353393.4",
"transcript_support_level": 1,
"aa_start": 67,
"aa_end": null,
"aa_length": 2351,
"cds_start": 200,
"cds_end": null,
"cds_length": 7056,
"cdna_start": 371,
"cdna_end": null,
"cdna_length": 9032,
"mane_select": "NM_000132.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F8",
"gene_hgnc_id": 3546,
"hgvs_c": "c.95dupA",
"hgvs_p": "p.Thr33fs",
"transcript": "ENST00000423959.5",
"protein_id": "ENSP00000409446.1",
"transcript_support_level": 3,
"aa_start": 32,
"aa_end": null,
"aa_length": 221,
"cds_start": 95,
"cds_end": null,
"cds_length": 668,
"cdna_start": 218,
"cdna_end": null,
"cdna_length": 791,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F8",
"gene_hgnc_id": 3546,
"hgvs_c": "c.182dupA",
"hgvs_p": "p.Thr62fs",
"transcript": "ENST00000453950.1",
"protein_id": "ENSP00000389153.1",
"transcript_support_level": 3,
"aa_start": 61,
"aa_end": null,
"aa_length": 163,
"cds_start": 182,
"cds_end": null,
"cds_length": 494,
"cdna_start": 233,
"cdna_end": null,
"cdna_length": 545,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F8",
"gene_hgnc_id": 3546,
"hgvs_c": "n.178dupA",
"hgvs_p": null,
"transcript": "ENST00000647125.1",
"protein_id": "ENSP00000496062.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3658,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "F8",
"gene_hgnc_id": 3546,
"dbsnp": "rs387906433",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": 9.12939e-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": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 5.676,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 10,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2",
"acmg_by_gene": [
{
"score": 10,
"benign_score": 0,
"pathogenic_score": 10,
"criteria": [
"PVS1",
"PM2"
],
"verdict": "Pathogenic",
"transcript": "ENST00000360256.9",
"gene_symbol": "F8",
"hgnc_id": 3546,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "XL",
"hgvs_c": "c.200dupA",
"hgvs_p": "p.Thr68fs"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}