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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: 2-124499159-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=124499159&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 124499159,
"ref": "T",
"alt": "C",
"effect": "intron_variant",
"transcript": "ENST00000682447.1",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "CNTNAP5",
"gene_hgnc_id": 18748,
"hgvs_c": "c.1063-5133T>C",
"hgvs_p": null,
"transcript": "NM_001367498.1",
"protein_id": "NP_001354427.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1307,
"cds_start": -4,
"cds_end": null,
"cds_length": 3924,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 11219,
"mane_select": "ENST00000682447.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "CNTNAP5",
"gene_hgnc_id": 18748,
"hgvs_c": "c.1063-5133T>C",
"hgvs_p": null,
"transcript": "ENST00000682447.1",
"protein_id": "ENSP00000508115.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1307,
"cds_start": -4,
"cds_end": null,
"cds_length": 3924,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 11219,
"mane_select": "NM_001367498.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "CNTNAP5",
"gene_hgnc_id": 18748,
"hgvs_c": "c.1060-5133T>C",
"hgvs_p": null,
"transcript": "ENST00000431078.1",
"protein_id": "ENSP00000399013.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1306,
"cds_start": -4,
"cds_end": null,
"cds_length": 3921,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5284,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "CNTNAP5",
"gene_hgnc_id": 18748,
"hgvs_c": "c.1060-5133T>C",
"hgvs_p": null,
"transcript": "NM_130773.4",
"protein_id": "NP_570129.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1306,
"cds_start": -4,
"cds_end": null,
"cds_length": 3921,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 11216,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "CNTNAP5",
"gene_hgnc_id": 18748,
"hgvs_c": "c.1063-5133T>C",
"hgvs_p": null,
"transcript": "XM_017003316.2",
"protein_id": "XP_016858805.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1227,
"cds_start": -4,
"cds_end": null,
"cds_length": 3684,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10979,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CNTNAP5",
"gene_hgnc_id": 18748,
"dbsnp": "rs11899928",
"frequency_reference_population": 0.01956933,
"hom_count_reference_population": 52,
"allele_count_reference_population": 2979,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.0195693,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 2979,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 52,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.9599999785423279,
"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": -0.96,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -3.109,
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BS1,BS2",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000682447.1",
"gene_symbol": "CNTNAP5",
"hgnc_id": 18748,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1063-5133T>C",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}