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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: 15-89575956-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=89575956&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 89575956,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_152259.4",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TICRR",
"gene_hgnc_id": 28704,
"hgvs_c": "c.370C>G",
"hgvs_p": "p.Pro124Ala",
"transcript": "NM_152259.4",
"protein_id": "NP_689472.3",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 1910,
"cds_start": 370,
"cds_end": null,
"cds_length": 5733,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000268138.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_152259.4"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TICRR",
"gene_hgnc_id": 28704,
"hgvs_c": "c.370C>G",
"hgvs_p": "p.Pro124Ala",
"transcript": "ENST00000268138.12",
"protein_id": "ENSP00000268138.7",
"transcript_support_level": 5,
"aa_start": 124,
"aa_end": null,
"aa_length": 1910,
"cds_start": 370,
"cds_end": null,
"cds_length": 5733,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_152259.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000268138.12"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TICRR",
"gene_hgnc_id": 28704,
"hgvs_c": "c.370C>G",
"hgvs_p": "p.Pro124Ala",
"transcript": "ENST00000560985.5",
"protein_id": "ENSP00000453306.1",
"transcript_support_level": 1,
"aa_start": 124,
"aa_end": null,
"aa_length": 1909,
"cds_start": 370,
"cds_end": null,
"cds_length": 5730,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000560985.5"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TICRR",
"gene_hgnc_id": 28704,
"hgvs_c": "c.370C>G",
"hgvs_p": "p.Pro124Ala",
"transcript": "NM_001308025.1",
"protein_id": "NP_001294954.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 1909,
"cds_start": 370,
"cds_end": null,
"cds_length": 5730,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001308025.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TICRR",
"gene_hgnc_id": 28704,
"hgvs_c": "c.370C>G",
"hgvs_p": "p.Pro124Ala",
"transcript": "ENST00000929580.1",
"protein_id": "ENSP00000599639.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 1868,
"cds_start": 370,
"cds_end": null,
"cds_length": 5607,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929580.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TICRR",
"gene_hgnc_id": 28704,
"hgvs_c": "c.370C>G",
"hgvs_p": "p.Pro124Ala",
"transcript": "ENST00000929581.1",
"protein_id": "ENSP00000599640.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 1855,
"cds_start": 370,
"cds_end": null,
"cds_length": 5568,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929581.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000259713",
"gene_hgnc_id": null,
"hgvs_c": "n.48-15547C>G",
"hgvs_p": null,
"transcript": "ENST00000559041.1",
"protein_id": null,
"transcript_support_level": 5,
"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": "ENST00000559041.1"
}
],
"gene_symbol": "TICRR",
"gene_hgnc_id": 28704,
"dbsnp": "rs1316267550",
"frequency_reference_population": 0.0000013791905,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000137919,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.24478983879089355,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.03,
"revel_prediction": "Benign",
"alphamissense_score": 0.1838,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.55,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.875,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_152259.4",
"gene_symbol": "TICRR",
"hgnc_id": 28704,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.370C>G",
"hgvs_p": "p.Pro124Ala"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000559041.1",
"gene_symbol": "ENSG00000259713",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.48-15547C>G",
"hgvs_p": null
}
],
"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
}