← 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: 12-102852868-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=102852868&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 102852868,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000553106.6",
"consequences": [
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAH",
"gene_hgnc_id": 8582,
"hgvs_c": "c.789C>G",
"hgvs_p": "p.Phe263Leu",
"transcript": "NM_000277.3",
"protein_id": "NP_000268.1",
"transcript_support_level": null,
"aa_start": 263,
"aa_end": null,
"aa_length": 452,
"cds_start": 789,
"cds_end": null,
"cds_length": 1359,
"cdna_start": 903,
"cdna_end": null,
"cdna_length": 3759,
"mane_select": "ENST00000553106.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAH",
"gene_hgnc_id": 8582,
"hgvs_c": "c.789C>G",
"hgvs_p": "p.Phe263Leu",
"transcript": "ENST00000553106.6",
"protein_id": "ENSP00000448059.1",
"transcript_support_level": 1,
"aa_start": 263,
"aa_end": null,
"aa_length": 452,
"cds_start": 789,
"cds_end": null,
"cds_length": 1359,
"cdna_start": 903,
"cdna_end": null,
"cdna_length": 3759,
"mane_select": "NM_000277.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAH",
"gene_hgnc_id": 8582,
"hgvs_c": "c.789C>G",
"hgvs_p": "p.Phe263Leu",
"transcript": "NM_001354304.2",
"protein_id": "NP_001341233.1",
"transcript_support_level": null,
"aa_start": 263,
"aa_end": null,
"aa_length": 452,
"cds_start": 789,
"cds_end": null,
"cds_length": 1359,
"cdna_start": 1131,
"cdna_end": null,
"cdna_length": 3987,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAH",
"gene_hgnc_id": 8582,
"hgvs_c": "c.774C>G",
"hgvs_p": "p.Phe258Leu",
"transcript": "ENST00000307000.7",
"protein_id": "ENSP00000303500.2",
"transcript_support_level": 5,
"aa_start": 258,
"aa_end": null,
"aa_length": 447,
"cds_start": 774,
"cds_end": null,
"cds_length": 1344,
"cdna_start": 1045,
"cdna_end": null,
"cdna_length": 2466,
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAH",
"gene_hgnc_id": 8582,
"hgvs_c": "n.548C>G",
"hgvs_p": null,
"transcript": "ENST00000549247.6",
"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": 961,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAH",
"gene_hgnc_id": 8582,
"hgvs_c": "c.-52C>G",
"hgvs_p": null,
"transcript": "ENST00000635477.1",
"protein_id": "ENSP00000489230.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 141,
"cds_start": -4,
"cds_end": null,
"cds_length": 428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 429,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "PAH",
"gene_hgnc_id": 8582,
"dbsnp": "rs62642944",
"frequency_reference_population": 0.000008208799,
"hom_count_reference_population": 0,
"allele_count_reference_population": 12,
"gnomad_exomes_af": 0.0000082088,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 12,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9920313358306885,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.929,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9969,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.47,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 1.924,
"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": 5,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3,PP4_Moderate,PM2",
"acmg_by_gene": [
{
"score": 5,
"benign_score": 0,
"pathogenic_score": 5,
"criteria": [
"PP3",
"PP4_Moderate",
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000553106.6",
"gene_symbol": "PAH",
"hgnc_id": 8582,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.789C>G",
"hgvs_p": "p.Phe263Leu"
}
],
"clinvar_disease": "Phenylketonuria,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "reviewed by expert panel",
"clinvar_submissions_summary": "P:3 US:1 O:1",
"phenotype_combined": "not provided|Phenylketonuria",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}