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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: 1-165408315-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=165408315&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 165408315,
"ref": "G",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "ENST00000359842.10",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RXRG",
"gene_hgnc_id": 10479,
"hgvs_c": "c.1050C>G",
"hgvs_p": "p.Val350Val",
"transcript": "NM_006917.5",
"protein_id": "NP_008848.1",
"transcript_support_level": null,
"aa_start": 350,
"aa_end": null,
"aa_length": 463,
"cds_start": 1050,
"cds_end": null,
"cds_length": 1392,
"cdna_start": 1283,
"cdna_end": null,
"cdna_length": 1966,
"mane_select": "ENST00000359842.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RXRG",
"gene_hgnc_id": 10479,
"hgvs_c": "c.1050C>G",
"hgvs_p": "p.Val350Val",
"transcript": "ENST00000359842.10",
"protein_id": "ENSP00000352900.5",
"transcript_support_level": 1,
"aa_start": 350,
"aa_end": null,
"aa_length": 463,
"cds_start": 1050,
"cds_end": null,
"cds_length": 1392,
"cdna_start": 1283,
"cdna_end": null,
"cdna_length": 1966,
"mane_select": "NM_006917.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RXRG",
"gene_hgnc_id": 10479,
"hgvs_c": "c.681C>G",
"hgvs_p": "p.Val227Val",
"transcript": "ENST00000619224.1",
"protein_id": "ENSP00000482458.1",
"transcript_support_level": 1,
"aa_start": 227,
"aa_end": null,
"aa_length": 340,
"cds_start": 681,
"cds_end": null,
"cds_length": 1023,
"cdna_start": 1570,
"cdna_end": null,
"cdna_length": 2252,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RXRG",
"gene_hgnc_id": 10479,
"hgvs_c": "c.681C>G",
"hgvs_p": "p.Val227Val",
"transcript": "NM_001256570.2",
"protein_id": "NP_001243499.1",
"transcript_support_level": null,
"aa_start": 227,
"aa_end": null,
"aa_length": 340,
"cds_start": 681,
"cds_end": null,
"cds_length": 1023,
"cdna_start": 1341,
"cdna_end": null,
"cdna_length": 2024,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RXRG",
"gene_hgnc_id": 10479,
"hgvs_c": "c.681C>G",
"hgvs_p": "p.Val227Val",
"transcript": "NM_001256571.2",
"protein_id": "NP_001243500.1",
"transcript_support_level": null,
"aa_start": 227,
"aa_end": null,
"aa_length": 340,
"cds_start": 681,
"cds_end": null,
"cds_length": 1023,
"cdna_start": 987,
"cdna_end": null,
"cdna_length": 1670,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ENSG00000298458",
"gene_hgnc_id": null,
"hgvs_c": "n.513+16115G>C",
"hgvs_p": null,
"transcript": "ENST00000755607.1",
"protein_id": null,
"transcript_support_level": null,
"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": 841,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "RXRG",
"gene_hgnc_id": 10479,
"dbsnp": "rs2134095",
"frequency_reference_population": 0.0000065772165,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.00000657722,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.6100000143051147,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.61,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.918,
"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": -3,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP7",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 5,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "ENST00000359842.10",
"gene_symbol": "RXRG",
"hgnc_id": 10479,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1050C>G",
"hgvs_p": "p.Val350Val"
},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000755607.1",
"gene_symbol": "ENSG00000298458",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.513+16115G>C",
"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
}