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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-130215321-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=130215321&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 130215321,
"ref": "T",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "NM_017666.5",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF280C",
"gene_hgnc_id": 25955,
"hgvs_c": "c.1851A>T",
"hgvs_p": "p.Gly617Gly",
"transcript": "NM_017666.5",
"protein_id": "NP_060136.1",
"transcript_support_level": null,
"aa_start": 617,
"aa_end": null,
"aa_length": 737,
"cds_start": 1851,
"cds_end": null,
"cds_length": 2214,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000370978.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_017666.5"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF280C",
"gene_hgnc_id": 25955,
"hgvs_c": "c.1851A>T",
"hgvs_p": "p.Gly617Gly",
"transcript": "ENST00000370978.9",
"protein_id": "ENSP00000360017.4",
"transcript_support_level": 1,
"aa_start": 617,
"aa_end": null,
"aa_length": 737,
"cds_start": 1851,
"cds_end": null,
"cds_length": 2214,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_017666.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000370978.9"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF280C",
"gene_hgnc_id": 25955,
"hgvs_c": "c.1704A>T",
"hgvs_p": "p.Gly568Gly",
"transcript": "ENST00000447817.1",
"protein_id": "ENSP00000408521.1",
"transcript_support_level": 1,
"aa_start": 568,
"aa_end": null,
"aa_length": 609,
"cds_start": 1704,
"cds_end": null,
"cds_length": 1832,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000447817.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF280C",
"gene_hgnc_id": 25955,
"hgvs_c": "c.1851A>T",
"hgvs_p": "p.Gly617Gly",
"transcript": "ENST00000930023.1",
"protein_id": "ENSP00000600082.1",
"transcript_support_level": null,
"aa_start": 617,
"aa_end": null,
"aa_length": 760,
"cds_start": 1851,
"cds_end": null,
"cds_length": 2283,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930023.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF280C",
"gene_hgnc_id": 25955,
"hgvs_c": "c.1704A>T",
"hgvs_p": "p.Gly568Gly",
"transcript": "XM_006724765.4",
"protein_id": "XP_006724828.1",
"transcript_support_level": null,
"aa_start": 568,
"aa_end": null,
"aa_length": 688,
"cds_start": 1704,
"cds_end": null,
"cds_length": 2067,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006724765.4"
}
],
"gene_symbol": "ZNF280C",
"gene_hgnc_id": 25955,
"dbsnp": "rs209238",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": 0,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 0,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.5,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.03999999910593033,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.5,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.392,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.04,
"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": -3,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP7",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 5,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_017666.5",
"gene_symbol": "ZNF280C",
"hgnc_id": 25955,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1851A>T",
"hgvs_p": "p.Gly617Gly"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}