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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: 12-112987088-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=112987088&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 112987088,
"ref": "C",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000392583.7",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OAS2",
"gene_hgnc_id": 8087,
"hgvs_c": "c.228C>A",
"hgvs_p": "p.Thr76Thr",
"transcript": "NM_002535.3",
"protein_id": "NP_002526.2",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 687,
"cds_start": 228,
"cds_end": null,
"cds_length": 2064,
"cdna_start": 318,
"cdna_end": null,
"cdna_length": 4622,
"mane_select": "ENST00000392583.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OAS2",
"gene_hgnc_id": 8087,
"hgvs_c": "c.228C>A",
"hgvs_p": "p.Thr76Thr",
"transcript": "ENST00000392583.7",
"protein_id": "ENSP00000376362.3",
"transcript_support_level": 1,
"aa_start": 76,
"aa_end": null,
"aa_length": 687,
"cds_start": 228,
"cds_end": null,
"cds_length": 2064,
"cdna_start": 318,
"cdna_end": null,
"cdna_length": 4622,
"mane_select": "NM_002535.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OAS2",
"gene_hgnc_id": 8087,
"hgvs_c": "c.228C>A",
"hgvs_p": "p.Thr76Thr",
"transcript": "ENST00000342315.8",
"protein_id": "ENSP00000342278.4",
"transcript_support_level": 1,
"aa_start": 76,
"aa_end": null,
"aa_length": 719,
"cds_start": 228,
"cds_end": null,
"cds_length": 2160,
"cdna_start": 442,
"cdna_end": null,
"cdna_length": 3613,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OAS2",
"gene_hgnc_id": 8087,
"hgvs_c": "c.228C>A",
"hgvs_p": "p.Thr76Thr",
"transcript": "ENST00000449768.2",
"protein_id": "ENSP00000411763.2",
"transcript_support_level": 1,
"aa_start": 76,
"aa_end": null,
"aa_length": 172,
"cds_start": 228,
"cds_end": null,
"cds_length": 519,
"cdna_start": 355,
"cdna_end": null,
"cdna_length": 2072,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OAS2",
"gene_hgnc_id": 8087,
"hgvs_c": "c.228C>A",
"hgvs_p": "p.Thr76Thr",
"transcript": "NM_016817.3",
"protein_id": "NP_058197.2",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 719,
"cds_start": 228,
"cds_end": null,
"cds_length": 2160,
"cdna_start": 318,
"cdna_end": null,
"cdna_length": 3489,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OAS2",
"gene_hgnc_id": 8087,
"hgvs_c": "c.120C>A",
"hgvs_p": "p.Thr40Thr",
"transcript": "ENST00000620097.2",
"protein_id": "ENSP00000483679.2",
"transcript_support_level": 5,
"aa_start": 40,
"aa_end": null,
"aa_length": 646,
"cds_start": 120,
"cds_end": null,
"cds_length": 1941,
"cdna_start": 198,
"cdna_end": null,
"cdna_length": 2019,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OAS2",
"gene_hgnc_id": 8087,
"hgvs_c": "c.228C>A",
"hgvs_p": "p.Thr76Thr",
"transcript": "ENST00000680122.1",
"protein_id": "ENSP00000505194.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 643,
"cds_start": 228,
"cds_end": null,
"cds_length": 1932,
"cdna_start": 251,
"cdna_end": null,
"cdna_length": 5613,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OAS2",
"gene_hgnc_id": 8087,
"hgvs_c": "c.228C>A",
"hgvs_p": "p.Thr76Thr",
"transcript": "NM_001032731.2",
"protein_id": "NP_001027903.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 172,
"cds_start": 228,
"cds_end": null,
"cds_length": 519,
"cdna_start": 318,
"cdna_end": null,
"cdna_length": 2035,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OAS2",
"gene_hgnc_id": 8087,
"hgvs_c": "n.228C>A",
"hgvs_p": null,
"transcript": "ENST00000551603.2",
"protein_id": "ENSP00000450307.2",
"transcript_support_level": 3,
"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": 2257,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OAS2",
"gene_hgnc_id": 8087,
"hgvs_c": "n.228C>A",
"hgvs_p": null,
"transcript": "ENST00000680138.1",
"protein_id": "ENSP00000506262.1",
"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": 4676,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OAS2",
"gene_hgnc_id": 8087,
"hgvs_c": "n.228C>A",
"hgvs_p": null,
"transcript": "ENST00000680514.1",
"protein_id": "ENSP00000505771.1",
"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": 3453,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OAS2",
"gene_hgnc_id": 8087,
"hgvs_c": "n.1247C>A",
"hgvs_p": null,
"transcript": "ENST00000680666.1",
"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": 2959,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OAS2",
"gene_hgnc_id": 8087,
"hgvs_c": "n.251C>A",
"hgvs_p": null,
"transcript": "ENST00000680898.1",
"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": 5062,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OAS2",
"gene_hgnc_id": 8087,
"hgvs_c": "n.318C>A",
"hgvs_p": null,
"transcript": "ENST00000681673.1",
"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": 1421,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OAS2",
"gene_hgnc_id": 8087,
"hgvs_c": "c.*20C>A",
"hgvs_p": null,
"transcript": "ENST00000680685.1",
"protein_id": "ENSP00000505554.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 92,
"cds_start": -4,
"cds_end": null,
"cds_length": 279,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2199,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "OAS2",
"gene_hgnc_id": 8087,
"hgvs_c": "c.223+5C>A",
"hgvs_p": null,
"transcript": "ENST00000552756.6",
"protein_id": "ENSP00000446977.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 607,
"cds_start": -4,
"cds_end": null,
"cds_length": 1824,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1893,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000257452",
"gene_hgnc_id": null,
"hgvs_c": "n.353+30311G>T",
"hgvs_p": null,
"transcript": "ENST00000552784.1",
"protein_id": null,
"transcript_support_level": 4,
"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": 575,
"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": 8,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "OAS2",
"gene_hgnc_id": 8087,
"hgvs_c": "n.178-8208C>A",
"hgvs_p": null,
"transcript": "ENST00000679877.1",
"protein_id": "ENSP00000506110.1",
"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": 4919,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "OAS2",
"gene_hgnc_id": 8087,
"dbsnp": "rs2072138",
"frequency_reference_population": 0.000010533281,
"hom_count_reference_population": 0,
"allele_count_reference_population": 17,
"gnomad_exomes_af": 0.00000752471,
"gnomad_genomes_af": 0.0000394524,
"gnomad_exomes_ac": 11,
"gnomad_genomes_ac": 6,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.6899999976158142,
"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": -0.69,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.609,
"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": "ENST00000392583.7",
"gene_symbol": "OAS2",
"hgnc_id": 8087,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.228C>A",
"hgvs_p": "p.Thr76Thr"
},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000552784.1",
"gene_symbol": "ENSG00000257452",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.353+30311G>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
}