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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: 16-27449115-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=27449115&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 27449115,
"ref": "C",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000337929.8",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL21R",
"gene_hgnc_id": 6006,
"hgvs_c": "c.1449C>A",
"hgvs_p": "p.Ala483Ala",
"transcript": "NM_181078.3",
"protein_id": "NP_851564.1",
"transcript_support_level": null,
"aa_start": 483,
"aa_end": null,
"aa_length": 538,
"cds_start": 1449,
"cds_end": null,
"cds_length": 1617,
"cdna_start": 1910,
"cdna_end": null,
"cdna_length": 4837,
"mane_select": "ENST00000337929.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL21R",
"gene_hgnc_id": 6006,
"hgvs_c": "c.1449C>A",
"hgvs_p": "p.Ala483Ala",
"transcript": "ENST00000337929.8",
"protein_id": "ENSP00000338010.3",
"transcript_support_level": 1,
"aa_start": 483,
"aa_end": null,
"aa_length": 538,
"cds_start": 1449,
"cds_end": null,
"cds_length": 1617,
"cdna_start": 1910,
"cdna_end": null,
"cdna_length": 4837,
"mane_select": "NM_181078.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL21R",
"gene_hgnc_id": 6006,
"hgvs_c": "c.1449C>A",
"hgvs_p": "p.Ala483Ala",
"transcript": "ENST00000395754.4",
"protein_id": "ENSP00000379103.4",
"transcript_support_level": 1,
"aa_start": 483,
"aa_end": null,
"aa_length": 538,
"cds_start": 1449,
"cds_end": null,
"cds_length": 1617,
"cdna_start": 1583,
"cdna_end": null,
"cdna_length": 2953,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL21R",
"gene_hgnc_id": 6006,
"hgvs_c": "c.1515C>A",
"hgvs_p": "p.Ala505Ala",
"transcript": "NM_181079.5",
"protein_id": "NP_851565.4",
"transcript_support_level": null,
"aa_start": 505,
"aa_end": null,
"aa_length": 560,
"cds_start": 1515,
"cds_end": null,
"cds_length": 1683,
"cdna_start": 2051,
"cdna_end": null,
"cdna_length": 4978,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL21R",
"gene_hgnc_id": 6006,
"hgvs_c": "c.1449C>A",
"hgvs_p": "p.Ala483Ala",
"transcript": "NM_021798.4",
"protein_id": "NP_068570.1",
"transcript_support_level": null,
"aa_start": 483,
"aa_end": null,
"aa_length": 538,
"cds_start": 1449,
"cds_end": null,
"cds_length": 1617,
"cdna_start": 1556,
"cdna_end": null,
"cdna_length": 4483,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL21R",
"gene_hgnc_id": 6006,
"hgvs_c": "c.1449C>A",
"hgvs_p": "p.Ala483Ala",
"transcript": "ENST00000564089.5",
"protein_id": "ENSP00000456707.1",
"transcript_support_level": 5,
"aa_start": 483,
"aa_end": null,
"aa_length": 538,
"cds_start": 1449,
"cds_end": null,
"cds_length": 1617,
"cdna_start": 2051,
"cdna_end": null,
"cdna_length": 3009,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL21R",
"gene_hgnc_id": 6006,
"hgvs_c": "c.1515C>A",
"hgvs_p": "p.Ala505Ala",
"transcript": "XM_011545857.4",
"protein_id": "XP_011544159.1",
"transcript_support_level": null,
"aa_start": 505,
"aa_end": null,
"aa_length": 560,
"cds_start": 1515,
"cds_end": null,
"cds_length": 1683,
"cdna_start": 2087,
"cdna_end": null,
"cdna_length": 5014,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL21R",
"gene_hgnc_id": 6006,
"hgvs_c": "c.1449C>A",
"hgvs_p": "p.Ala483Ala",
"transcript": "XM_017023257.3",
"protein_id": "XP_016878746.1",
"transcript_support_level": null,
"aa_start": 483,
"aa_end": null,
"aa_length": 538,
"cds_start": 1449,
"cds_end": null,
"cds_length": 1617,
"cdna_start": 2040,
"cdna_end": null,
"cdna_length": 4967,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL21R",
"gene_hgnc_id": 6006,
"hgvs_c": "c.1077C>A",
"hgvs_p": "p.Ala359Ala",
"transcript": "XM_047434180.1",
"protein_id": "XP_047290136.1",
"transcript_support_level": null,
"aa_start": 359,
"aa_end": null,
"aa_length": 414,
"cds_start": 1077,
"cds_end": null,
"cds_length": 1245,
"cdna_start": 1228,
"cdna_end": null,
"cdna_length": 4155,
"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": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL21R-AS1",
"gene_hgnc_id": 27551,
"hgvs_c": "n.1169G>T",
"hgvs_p": null,
"transcript": "ENST00000563191.1",
"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": 2615,
"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": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL21R-AS1",
"gene_hgnc_id": 27551,
"hgvs_c": "n.1169G>T",
"hgvs_p": null,
"transcript": "NR_037158.1",
"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": 2615,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "IL21R",
"gene_hgnc_id": 6006,
"dbsnp": "rs3093408",
"frequency_reference_population": 0.0000034218872,
"hom_count_reference_population": 0,
"allele_count_reference_population": 5,
"gnomad_exomes_af": 0.00000342189,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 5,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.6299999952316284,
"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": -0.63,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.554,
"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": "ENST00000337929.8",
"gene_symbol": "IL21R",
"hgnc_id": 6006,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1449C>A",
"hgvs_p": "p.Ala483Ala"
},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000563191.1",
"gene_symbol": "IL21R-AS1",
"hgnc_id": 27551,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.1169G>T",
"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
}