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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: 5-173890221-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=173890221&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 173890221,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_030627.4",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPEB4",
"gene_hgnc_id": 21747,
"hgvs_c": "c.488C>G",
"hgvs_p": "p.Ser163Trp",
"transcript": "NM_030627.4",
"protein_id": "NP_085130.2",
"transcript_support_level": null,
"aa_start": 163,
"aa_end": null,
"aa_length": 729,
"cds_start": 488,
"cds_end": null,
"cds_length": 2190,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000265085.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_030627.4"
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPEB4",
"gene_hgnc_id": 21747,
"hgvs_c": "c.488C>G",
"hgvs_p": "p.Ser163Trp",
"transcript": "ENST00000265085.10",
"protein_id": "ENSP00000265085.5",
"transcript_support_level": 1,
"aa_start": 163,
"aa_end": null,
"aa_length": 729,
"cds_start": 488,
"cds_end": null,
"cds_length": 2190,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_030627.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000265085.10"
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPEB4",
"gene_hgnc_id": 21747,
"hgvs_c": "c.488C>G",
"hgvs_p": "p.Ser163Trp",
"transcript": "ENST00000334035.9",
"protein_id": "ENSP00000334533.5",
"transcript_support_level": 1,
"aa_start": 163,
"aa_end": null,
"aa_length": 712,
"cds_start": 488,
"cds_end": null,
"cds_length": 2139,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000334035.9"
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPEB4",
"gene_hgnc_id": 21747,
"hgvs_c": "c.488C>G",
"hgvs_p": "p.Ser163Trp",
"transcript": "ENST00000520867.5",
"protein_id": "ENSP00000429092.1",
"transcript_support_level": 1,
"aa_start": 163,
"aa_end": null,
"aa_length": 704,
"cds_start": 488,
"cds_end": null,
"cds_length": 2115,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000520867.5"
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPEB4",
"gene_hgnc_id": 21747,
"hgvs_c": "c.488C>G",
"hgvs_p": "p.Ser163Trp",
"transcript": "ENST00000519835.5",
"protein_id": "ENSP00000429048.1",
"transcript_support_level": 1,
"aa_start": 163,
"aa_end": null,
"aa_length": 639,
"cds_start": 488,
"cds_end": null,
"cds_length": 1920,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000519835.5"
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPEB4",
"gene_hgnc_id": 21747,
"hgvs_c": "c.488C>G",
"hgvs_p": "p.Ser163Trp",
"transcript": "NM_001308189.2",
"protein_id": "NP_001295118.1",
"transcript_support_level": null,
"aa_start": 163,
"aa_end": null,
"aa_length": 712,
"cds_start": 488,
"cds_end": null,
"cds_length": 2139,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001308189.2"
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPEB4",
"gene_hgnc_id": 21747,
"hgvs_c": "c.488C>G",
"hgvs_p": "p.Ser163Trp",
"transcript": "NM_001308191.2",
"protein_id": "NP_001295120.1",
"transcript_support_level": null,
"aa_start": 163,
"aa_end": null,
"aa_length": 704,
"cds_start": 488,
"cds_end": null,
"cds_length": 2115,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001308191.2"
}
],
"gene_symbol": "CPEB4",
"gene_hgnc_id": 21747,
"dbsnp": "rs1755757530",
"frequency_reference_population": 6.840797e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.8408e-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": 0.7180098295211792,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.311,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.6976,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.05,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.568,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.01,
"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_030627.4",
"gene_symbol": "CPEB4",
"hgnc_id": 21747,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.488C>G",
"hgvs_p": "p.Ser163Trp"
}
],
"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
}