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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: 1-245688693-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=245688693&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 245688693,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_018012.4",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF26B",
"gene_hgnc_id": 25484,
"hgvs_c": "c.5710G>C",
"hgvs_p": "p.Asp1904His",
"transcript": "NM_018012.4",
"protein_id": "NP_060482.2",
"transcript_support_level": null,
"aa_start": 1904,
"aa_end": null,
"aa_length": 2108,
"cds_start": 5710,
"cds_end": null,
"cds_length": 6327,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000407071.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018012.4"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF26B",
"gene_hgnc_id": 25484,
"hgvs_c": "c.5710G>C",
"hgvs_p": "p.Asp1904His",
"transcript": "ENST00000407071.7",
"protein_id": "ENSP00000385545.2",
"transcript_support_level": 1,
"aa_start": 1904,
"aa_end": null,
"aa_length": 2108,
"cds_start": 5710,
"cds_end": null,
"cds_length": 6327,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_018012.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000407071.7"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF26B",
"gene_hgnc_id": 25484,
"hgvs_c": "c.4567G>C",
"hgvs_p": "p.Asp1523His",
"transcript": "ENST00000366518.4",
"protein_id": "ENSP00000355475.4",
"transcript_support_level": 5,
"aa_start": 1523,
"aa_end": null,
"aa_length": 1727,
"cds_start": 4567,
"cds_end": null,
"cds_length": 5184,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000366518.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "LOC105373265",
"gene_hgnc_id": null,
"hgvs_c": "n.657-4242C>G",
"hgvs_p": null,
"transcript": "XR_007066988.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007066988.1"
}
],
"gene_symbol": "KIF26B",
"gene_hgnc_id": 25484,
"dbsnp": "rs749953234",
"frequency_reference_population": 0.00010767277,
"hom_count_reference_population": 0,
"allele_count_reference_population": 173,
"gnomad_exomes_af": 0.000101762,
"gnomad_genomes_af": 0.000164102,
"gnomad_exomes_ac": 148,
"gnomad_genomes_ac": 25,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8307899832725525,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.769,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9326,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.3,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.793,
"phylop100way_prediction": "Pathogenic",
"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": -1,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM5,PP3,BS2",
"acmg_by_gene": [
{
"score": -1,
"benign_score": 4,
"pathogenic_score": 3,
"criteria": [
"PM5",
"PP3",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_018012.4",
"gene_symbol": "KIF26B",
"hgnc_id": 25484,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.5710G>C",
"hgvs_p": "p.Asp1904His"
},
{
"score": 1,
"benign_score": 0,
"pathogenic_score": 1,
"criteria": [
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "XR_007066988.1",
"gene_symbol": "LOC105373265",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.657-4242C>G",
"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
}