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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: 13-27095668-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=27095668&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 27095668,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_182488.4",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP12",
"gene_hgnc_id": 20485,
"hgvs_c": "c.506C>G",
"hgvs_p": "p.Pro169Arg",
"transcript": "NM_182488.4",
"protein_id": "NP_872294.2",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 370,
"cds_start": 506,
"cds_end": null,
"cds_length": 1113,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000282344.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_182488.4"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP12",
"gene_hgnc_id": 20485,
"hgvs_c": "c.506C>G",
"hgvs_p": "p.Pro169Arg",
"transcript": "ENST00000282344.11",
"protein_id": "ENSP00000282344.6",
"transcript_support_level": 1,
"aa_start": 169,
"aa_end": null,
"aa_length": 370,
"cds_start": 506,
"cds_end": null,
"cds_length": 1113,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_182488.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000282344.11"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP12",
"gene_hgnc_id": 20485,
"hgvs_c": "c.506C>G",
"hgvs_p": "p.Pro169Arg",
"transcript": "ENST00000963737.1",
"protein_id": "ENSP00000633796.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 358,
"cds_start": 506,
"cds_end": null,
"cds_length": 1077,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963737.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP12",
"gene_hgnc_id": 20485,
"hgvs_c": "c.425C>G",
"hgvs_p": "p.Pro142Arg",
"transcript": "ENST00000915651.1",
"protein_id": "ENSP00000585710.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 343,
"cds_start": 425,
"cds_end": null,
"cds_length": 1032,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915651.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP12",
"gene_hgnc_id": 20485,
"hgvs_c": "c.38C>G",
"hgvs_p": "p.Pro13Arg",
"transcript": "ENST00000612674.1",
"protein_id": "ENSP00000480395.1",
"transcript_support_level": 2,
"aa_start": 13,
"aa_end": null,
"aa_length": 89,
"cds_start": 38,
"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": "ENST00000612674.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP12",
"gene_hgnc_id": 20485,
"hgvs_c": "c.506C>G",
"hgvs_p": "p.Pro169Arg",
"transcript": "XM_005266282.3",
"protein_id": "XP_005266339.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 312,
"cds_start": 506,
"cds_end": null,
"cds_length": 939,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005266282.3"
}
],
"gene_symbol": "USP12",
"gene_hgnc_id": 20485,
"dbsnp": "rs946174783",
"frequency_reference_population": 0.000014263301,
"hom_count_reference_population": 0,
"allele_count_reference_population": 23,
"gnomad_exomes_af": 0.0000150659,
"gnomad_genomes_af": 0.00000656702,
"gnomad_exomes_ac": 22,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.3713233470916748,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.246,
"revel_prediction": "Benign",
"alphamissense_score": 0.1264,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.05,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 6.756,
"phylop100way_prediction": "Uncertain_significance",
"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": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4,BS2",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 5,
"pathogenic_score": 0,
"criteria": [
"BP4",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_182488.4",
"gene_symbol": "USP12",
"hgnc_id": 20485,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.506C>G",
"hgvs_p": "p.Pro169Arg"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}