← 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: 11-4385385-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=4385385&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 4385385,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_003141.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM21",
"gene_hgnc_id": 11312,
"hgvs_c": "c.1328G>C",
"hgvs_p": "p.Arg443Pro",
"transcript": "NM_003141.4",
"protein_id": "NP_003132.2",
"transcript_support_level": null,
"aa_start": 443,
"aa_end": null,
"aa_length": 475,
"cds_start": 1328,
"cds_end": null,
"cds_length": 1428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000254436.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003141.4"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM21",
"gene_hgnc_id": 11312,
"hgvs_c": "c.1328G>C",
"hgvs_p": "p.Arg443Pro",
"transcript": "ENST00000254436.8",
"protein_id": "ENSP00000254436.7",
"transcript_support_level": 1,
"aa_start": 443,
"aa_end": null,
"aa_length": 475,
"cds_start": 1328,
"cds_end": null,
"cds_length": 1428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003141.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000254436.8"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM21",
"gene_hgnc_id": 11312,
"hgvs_c": "c.1328G>C",
"hgvs_p": "p.Arg443Pro",
"transcript": "ENST00000934674.1",
"protein_id": "ENSP00000604733.1",
"transcript_support_level": null,
"aa_start": 443,
"aa_end": null,
"aa_length": 475,
"cds_start": 1328,
"cds_end": null,
"cds_length": 1428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934674.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM21",
"gene_hgnc_id": 11312,
"hgvs_c": "c.1328G>C",
"hgvs_p": "p.Arg443Pro",
"transcript": "ENST00000962553.1",
"protein_id": "ENSP00000632612.1",
"transcript_support_level": null,
"aa_start": 443,
"aa_end": null,
"aa_length": 475,
"cds_start": 1328,
"cds_end": null,
"cds_length": 1428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962553.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM21",
"gene_hgnc_id": 11312,
"hgvs_c": "c.869G>C",
"hgvs_p": "p.Arg290Pro",
"transcript": "ENST00000881224.1",
"protein_id": "ENSP00000551283.1",
"transcript_support_level": null,
"aa_start": 290,
"aa_end": null,
"aa_length": 322,
"cds_start": 869,
"cds_end": null,
"cds_length": 969,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881224.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM21",
"gene_hgnc_id": 11312,
"hgvs_c": "c.217G>C",
"hgvs_p": "p.Gly73Arg",
"transcript": "ENST00000533692.1",
"protein_id": "ENSP00000434053.1",
"transcript_support_level": 3,
"aa_start": 73,
"aa_end": null,
"aa_length": 89,
"cds_start": 217,
"cds_end": null,
"cds_length": 270,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000533692.1"
}
],
"gene_symbol": "TRIM21",
"gene_hgnc_id": 11312,
"dbsnp": "rs755771107",
"frequency_reference_population": 6.8418825e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84188e-7,
"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": 0.7257134914398193,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.426,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9733,
"alphamissense_prediction": "Pathogenic",
"bayesdelnoaf_score": -0.05,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 0.133,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_003141.4",
"gene_symbol": "TRIM21",
"hgnc_id": 11312,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1328G>C",
"hgvs_p": "p.Arg443Pro"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}