← Back to variant description
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: 1-223545289-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=223545289&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 223545289,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000366872.10",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPN8",
"gene_hgnc_id": 1485,
"hgvs_c": "c.1775C>T",
"hgvs_p": "p.Thr592Met",
"transcript": "NM_001143962.2",
"protein_id": "NP_001137434.1",
"transcript_support_level": null,
"aa_start": 592,
"aa_end": null,
"aa_length": 703,
"cds_start": 1775,
"cds_end": null,
"cds_length": 2112,
"cdna_start": 1830,
"cdna_end": null,
"cdna_length": 2387,
"mane_select": "ENST00000366872.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPN8",
"gene_hgnc_id": 1485,
"hgvs_c": "c.1775C>T",
"hgvs_p": "p.Thr592Met",
"transcript": "ENST00000366872.10",
"protein_id": "ENSP00000355837.6",
"transcript_support_level": 1,
"aa_start": 592,
"aa_end": null,
"aa_length": 703,
"cds_start": 1775,
"cds_end": null,
"cds_length": 2112,
"cdna_start": 1830,
"cdna_end": null,
"cdna_length": 2387,
"mane_select": "NM_001143962.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPN8",
"gene_hgnc_id": 1485,
"hgvs_c": "c.1292C>T",
"hgvs_p": "p.Thr431Met",
"transcript": "XM_017001265.2",
"protein_id": "XP_016856754.1",
"transcript_support_level": null,
"aa_start": 431,
"aa_end": null,
"aa_length": 542,
"cds_start": 1292,
"cds_end": null,
"cds_length": 1629,
"cdna_start": 1334,
"cdna_end": null,
"cdna_length": 1891,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPN8",
"gene_hgnc_id": 1485,
"hgvs_c": "c.1094C>T",
"hgvs_p": "p.Thr365Met",
"transcript": "XM_017001266.2",
"protein_id": "XP_016856755.1",
"transcript_support_level": null,
"aa_start": 365,
"aa_end": null,
"aa_length": 476,
"cds_start": 1094,
"cds_end": null,
"cds_length": 1431,
"cdna_start": 1224,
"cdna_end": null,
"cdna_length": 1781,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPN8",
"gene_hgnc_id": 1485,
"hgvs_c": "n.86C>T",
"hgvs_p": null,
"transcript": "ENST00000482401.6",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1023,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CAPN8",
"gene_hgnc_id": 1485,
"hgvs_c": "c.123+4029C>T",
"hgvs_p": null,
"transcript": "ENST00000442247.5",
"protein_id": "ENSP00000409233.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 101,
"cds_start": -4,
"cds_end": null,
"cds_length": 306,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 327,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CAPN8",
"gene_hgnc_id": 1485,
"dbsnp": "rs61823553",
"frequency_reference_population": 0.520682,
"hom_count_reference_population": 213191,
"allele_count_reference_population": 807533,
"gnomad_exomes_af": 0.526512,
"gnomad_genomes_af": 0.467032,
"gnomad_exomes_ac": 736533,
"gnomad_genomes_ac": 71000,
"gnomad_exomes_homalt": 195437,
"gnomad_genomes_homalt": 17754,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0005613863468170166,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.15000000596046448,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.358,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.0893,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.2,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.265,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.15,
"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,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000366872.10",
"gene_symbol": "CAPN8",
"hgnc_id": 1485,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1775C>T",
"hgvs_p": "p.Thr592Met"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}