← 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: 3-27717427-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=27717427&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 27717427,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "NM_001278182.2",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EOMES",
"gene_hgnc_id": 3372,
"hgvs_c": "c.1761C>T",
"hgvs_p": "p.Thr587Thr",
"transcript": "NM_001278182.2",
"protein_id": "NP_001265111.1",
"transcript_support_level": null,
"aa_start": 587,
"aa_end": null,
"aa_length": 705,
"cds_start": 1761,
"cds_end": null,
"cds_length": 2118,
"cdna_start": 1790,
"cdna_end": null,
"cdna_length": 3264,
"mane_select": "ENST00000449599.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EOMES",
"gene_hgnc_id": 3372,
"hgvs_c": "c.1761C>T",
"hgvs_p": "p.Thr587Thr",
"transcript": "ENST00000449599.4",
"protein_id": "ENSP00000388620.1",
"transcript_support_level": 1,
"aa_start": 587,
"aa_end": null,
"aa_length": 705,
"cds_start": 1761,
"cds_end": null,
"cds_length": 2118,
"cdna_start": 1790,
"cdna_end": null,
"cdna_length": 3264,
"mane_select": "NM_001278182.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EOMES",
"gene_hgnc_id": 3372,
"hgvs_c": "c.1704C>T",
"hgvs_p": "p.Thr568Thr",
"transcript": "ENST00000295743.8",
"protein_id": "ENSP00000295743.4",
"transcript_support_level": 1,
"aa_start": 568,
"aa_end": null,
"aa_length": 686,
"cds_start": 1704,
"cds_end": null,
"cds_length": 2061,
"cdna_start": 1908,
"cdna_end": null,
"cdna_length": 3386,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EOMES",
"gene_hgnc_id": 3372,
"hgvs_c": "c.1704C>T",
"hgvs_p": "p.Thr568Thr",
"transcript": "NM_005442.4",
"protein_id": "NP_005433.2",
"transcript_support_level": null,
"aa_start": 568,
"aa_end": null,
"aa_length": 686,
"cds_start": 1704,
"cds_end": null,
"cds_length": 2061,
"cdna_start": 1733,
"cdna_end": null,
"cdna_length": 3207,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EOMES",
"gene_hgnc_id": 3372,
"hgvs_c": "c.876C>T",
"hgvs_p": "p.Thr292Thr",
"transcript": "NM_001278183.2",
"protein_id": "NP_001265112.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 410,
"cds_start": 876,
"cds_end": null,
"cds_length": 1233,
"cdna_start": 1164,
"cdna_end": null,
"cdna_length": 2638,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EOMES",
"gene_hgnc_id": 3372,
"hgvs_c": "c.876C>T",
"hgvs_p": "p.Thr292Thr",
"transcript": "ENST00000461503.2",
"protein_id": "ENSP00000487112.1",
"transcript_support_level": 2,
"aa_start": 292,
"aa_end": null,
"aa_length": 410,
"cds_start": 876,
"cds_end": null,
"cds_length": 1233,
"cdna_start": 1162,
"cdna_end": null,
"cdna_length": 2080,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EOMES",
"gene_hgnc_id": 3372,
"hgvs_c": "c.*94C>T",
"hgvs_p": null,
"transcript": "XM_005265510.5",
"protein_id": "XP_005265567.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 515,
"cds_start": -4,
"cds_end": null,
"cds_length": 1548,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3145,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "EOMES",
"gene_hgnc_id": 3372,
"dbsnp": "rs147750278",
"frequency_reference_population": 0.00017221962,
"hom_count_reference_population": 1,
"allele_count_reference_population": 278,
"gnomad_exomes_af": 0.000166224,
"gnomad_genomes_af": 0.000229755,
"gnomad_exomes_ac": 243,
"gnomad_genomes_ac": 35,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 1,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.6000000238418579,
"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": -0.6,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.365,
"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": -7,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BP7",
"acmg_by_gene": [
{
"score": -7,
"benign_score": 7,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BP7"
],
"verdict": "Benign",
"transcript": "NM_001278182.2",
"gene_symbol": "EOMES",
"hgnc_id": 3372,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1761C>T",
"hgvs_p": "p.Thr587Thr"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}