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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: 9-101594473-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=101594473&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 101594473,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_147180.4",
"consequences": [
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP3R2",
"gene_hgnc_id": 9318,
"hgvs_c": "c.449T>G",
"hgvs_p": "p.Phe150Cys",
"transcript": "NM_147180.4",
"protein_id": "NP_671709.2",
"transcript_support_level": null,
"aa_start": 150,
"aa_end": null,
"aa_length": 170,
"cds_start": 449,
"cds_end": null,
"cds_length": 513,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000374806.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_147180.4"
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP3R2",
"gene_hgnc_id": 9318,
"hgvs_c": "c.449T>G",
"hgvs_p": "p.Phe150Cys",
"transcript": "ENST00000374806.2",
"protein_id": "ENSP00000363939.2",
"transcript_support_level": 6,
"aa_start": 150,
"aa_end": null,
"aa_length": 170,
"cds_start": 449,
"cds_end": null,
"cds_length": 513,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_147180.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000374806.2"
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP3R2",
"gene_hgnc_id": 9318,
"hgvs_c": "c.149T>G",
"hgvs_p": "p.Phe50Cys",
"transcript": "ENST00000636434.1",
"protein_id": "ENSP00000490051.1",
"transcript_support_level": 1,
"aa_start": 50,
"aa_end": null,
"aa_length": 70,
"cds_start": 149,
"cds_end": null,
"cds_length": 213,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000636434.1"
},
{
"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": 9,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "GRIN3A",
"gene_hgnc_id": 16767,
"hgvs_c": "c.2767-15113T>G",
"hgvs_p": null,
"transcript": "NM_133445.3",
"protein_id": "NP_597702.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1115,
"cds_start": null,
"cds_end": null,
"cds_length": 3348,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000361820.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_133445.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "GRIN3A",
"gene_hgnc_id": 16767,
"hgvs_c": "c.2767-15113T>G",
"hgvs_p": null,
"transcript": "ENST00000361820.6",
"protein_id": "ENSP00000355155.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1115,
"cds_start": null,
"cds_end": null,
"cds_length": 3348,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_133445.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000361820.6"
}
],
"gene_symbol": "PPP3R2",
"gene_hgnc_id": 9318,
"dbsnp": "rs781576089",
"frequency_reference_population": 6.8404694e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84047e-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": 0.9398508071899414,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.751,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.7104,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.1,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 5.023,
"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": 6,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong",
"acmg_by_gene": [
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_147180.4",
"gene_symbol": "PPP3R2",
"hgnc_id": 9318,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.449T>G",
"hgvs_p": "p.Phe150Cys"
},
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_133445.3",
"gene_symbol": "GRIN3A",
"hgnc_id": 16767,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2767-15113T>G",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}