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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: 16-89192385-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=89192385&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 89192385,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_004933.3",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDH15",
"gene_hgnc_id": 1754,
"hgvs_c": "c.1796G>A",
"hgvs_p": "p.Gly599Asp",
"transcript": "NM_004933.3",
"protein_id": "NP_004924.1",
"transcript_support_level": null,
"aa_start": 599,
"aa_end": null,
"aa_length": 814,
"cds_start": 1796,
"cds_end": null,
"cds_length": 2445,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000289746.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004933.3"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDH15",
"gene_hgnc_id": 1754,
"hgvs_c": "c.1796G>A",
"hgvs_p": "p.Gly599Asp",
"transcript": "ENST00000289746.3",
"protein_id": "ENSP00000289746.2",
"transcript_support_level": 1,
"aa_start": 599,
"aa_end": null,
"aa_length": 814,
"cds_start": 1796,
"cds_end": null,
"cds_length": 2445,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004933.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000289746.3"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDH15",
"gene_hgnc_id": 1754,
"hgvs_c": "c.1796G>A",
"hgvs_p": "p.Gly599Asp",
"transcript": "ENST00000967215.1",
"protein_id": "ENSP00000637274.1",
"transcript_support_level": null,
"aa_start": 599,
"aa_end": null,
"aa_length": 834,
"cds_start": 1796,
"cds_end": null,
"cds_length": 2505,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967215.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDH15",
"gene_hgnc_id": 1754,
"hgvs_c": "c.1646G>A",
"hgvs_p": "p.Gly549Asp",
"transcript": "ENST00000859655.1",
"protein_id": "ENSP00000529714.1",
"transcript_support_level": null,
"aa_start": 549,
"aa_end": null,
"aa_length": 764,
"cds_start": 1646,
"cds_end": null,
"cds_length": 2295,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859655.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDH15",
"gene_hgnc_id": 1754,
"hgvs_c": "c.1637G>A",
"hgvs_p": "p.Gly546Asp",
"transcript": "ENST00000967216.1",
"protein_id": "ENSP00000637275.1",
"transcript_support_level": null,
"aa_start": 546,
"aa_end": null,
"aa_length": 761,
"cds_start": 1637,
"cds_end": null,
"cds_length": 2286,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967216.1"
}
],
"gene_symbol": "CDH15",
"gene_hgnc_id": 1754,
"dbsnp": "rs779470688",
"frequency_reference_population": 0.000005051183,
"hom_count_reference_population": 0,
"allele_count_reference_population": 7,
"gnomad_exomes_af": 0.00000505118,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 7,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6935181617736816,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.163,
"revel_prediction": "Benign",
"alphamissense_score": 0.1382,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.35,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.372,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BS2",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_004933.3",
"gene_symbol": "CDH15",
"hgnc_id": 1754,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1796G>A",
"hgvs_p": "p.Gly599Asp"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}