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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: 18-57435857-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=57435857&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 57435857,
"ref": "C",
"alt": "G",
"effect": "synonymous_variant",
"transcript": "NM_004852.3",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ONECUT2",
"gene_hgnc_id": 8139,
"hgvs_c": "c.141C>G",
"hgvs_p": "p.Gly47Gly",
"transcript": "NM_004852.3",
"protein_id": "NP_004843.2",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 504,
"cds_start": 141,
"cds_end": null,
"cds_length": 1515,
"cdna_start": 484,
"cdna_end": null,
"cdna_length": 16433,
"mane_select": "ENST00000491143.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ONECUT2",
"gene_hgnc_id": 8139,
"hgvs_c": "c.141C>G",
"hgvs_p": "p.Gly47Gly",
"transcript": "ENST00000491143.3",
"protein_id": "ENSP00000419185.2",
"transcript_support_level": 1,
"aa_start": 47,
"aa_end": null,
"aa_length": 504,
"cds_start": 141,
"cds_end": null,
"cds_length": 1515,
"cdna_start": 484,
"cdna_end": null,
"cdna_length": 16433,
"mane_select": "NM_004852.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ONECUT2",
"gene_hgnc_id": 8139,
"hgvs_c": "c.141C>G",
"hgvs_p": "p.Gly47Gly",
"transcript": "XM_047437945.1",
"protein_id": "XP_047293901.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 480,
"cds_start": 141,
"cds_end": null,
"cds_length": 1443,
"cdna_start": 484,
"cdna_end": null,
"cdna_length": 2492,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ONECUT2",
"gene_hgnc_id": 8139,
"hgvs_c": "c.141C>G",
"hgvs_p": "p.Gly47Gly",
"transcript": "XM_047437946.1",
"protein_id": "XP_047293902.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 458,
"cds_start": 141,
"cds_end": null,
"cds_length": 1377,
"cdna_start": 484,
"cdna_end": null,
"cdna_length": 4690,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ONECUT2",
"gene_hgnc_id": 8139,
"hgvs_c": "c.141C>G",
"hgvs_p": "p.Gly47Gly",
"transcript": "XM_047437947.1",
"protein_id": "XP_047293903.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 454,
"cds_start": 141,
"cds_end": null,
"cds_length": 1365,
"cdna_start": 484,
"cdna_end": null,
"cdna_length": 16494,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ONECUT2",
"gene_hgnc_id": 8139,
"hgvs_c": "c.141C>G",
"hgvs_p": "p.Gly47Gly",
"transcript": "XM_047437948.1",
"protein_id": "XP_047293904.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 427,
"cds_start": 141,
"cds_end": null,
"cds_length": 1284,
"cdna_start": 484,
"cdna_end": null,
"cdna_length": 3705,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ONECUT2",
"gene_hgnc_id": 8139,
"dbsnp": "rs758397066",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": 0.00000175348,
"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": -0.5099999904632568,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"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": -0.51,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.888,
"phylop100way_prediction": "Benign",
"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": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP6_Moderate,BP7",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 7,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_004852.3",
"gene_symbol": "ONECUT2",
"hgnc_id": 8139,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.141C>G",
"hgvs_p": "p.Gly47Gly"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}