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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: 10-132208050-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=132208050&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "STK32C",
"hgnc_id": 21332,
"hgvs_c": "c.1460C>T",
"hgvs_p": "p.Pro487Leu",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_001318878.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 3,
"alphamissense_prediction": null,
"alphamissense_score": 0.1107,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.33,
"chr": "10",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.10926869511604309,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 486,
"aa_ref": "P",
"aa_start": 474,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2096,
"cdna_start": 1538,
"cds_end": null,
"cds_length": 1461,
"cds_start": 1421,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_173575.4",
"gene_hgnc_id": 21332,
"gene_symbol": "STK32C",
"hgvs_c": "c.1421C>T",
"hgvs_p": "p.Pro474Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000298630.8",
"protein_coding": true,
"protein_id": "NP_775846.2",
"strand": false,
"transcript": "NM_173575.4",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 486,
"aa_ref": "P",
"aa_start": 474,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2096,
"cdna_start": 1538,
"cds_end": null,
"cds_length": 1461,
"cds_start": 1421,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000298630.8",
"gene_hgnc_id": 21332,
"gene_symbol": "STK32C",
"hgvs_c": "c.1421C>T",
"hgvs_p": "p.Pro474Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_173575.4",
"protein_coding": true,
"protein_id": "ENSP00000298630.3",
"strand": false,
"transcript": "ENST00000298630.8",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 369,
"aa_ref": "P",
"aa_start": 357,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2010,
"cdna_start": 1452,
"cds_end": null,
"cds_length": 1110,
"cds_start": 1070,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000368622.5",
"gene_hgnc_id": 21332,
"gene_symbol": "STK32C",
"hgvs_c": "c.1070C>T",
"hgvs_p": "p.Pro357Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000357611.1",
"strand": false,
"transcript": "ENST00000368622.5",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 499,
"aa_ref": "P",
"aa_start": 487,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2162,
"cdna_start": 1604,
"cds_end": null,
"cds_length": 1500,
"cds_start": 1460,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001318878.2",
"gene_hgnc_id": 21332,
"gene_symbol": "STK32C",
"hgvs_c": "c.1460C>T",
"hgvs_p": "p.Pro487Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001305807.1",
"strand": false,
"transcript": "NM_001318878.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 494,
"aa_ref": "P",
"aa_start": 482,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2114,
"cdna_start": 1556,
"cds_end": null,
"cds_length": 1485,
"cds_start": 1445,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000916800.1",
"gene_hgnc_id": 21332,
"gene_symbol": "STK32C",
"hgvs_c": "c.1445C>T",
"hgvs_p": "p.Pro482Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586859.1",
"strand": false,
"transcript": "ENST00000916800.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 444,
"aa_ref": "P",
"aa_start": 432,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1982,
"cdna_start": 1415,
"cds_end": null,
"cds_length": 1335,
"cds_start": 1295,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000956240.1",
"gene_hgnc_id": 21332,
"gene_symbol": "STK32C",
"hgvs_c": "c.1295C>T",
"hgvs_p": "p.Pro432Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000626299.1",
"strand": false,
"transcript": "ENST00000956240.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 369,
"aa_ref": "P",
"aa_start": 357,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2018,
"cdna_start": 1460,
"cds_end": null,
"cds_length": 1110,
"cds_start": 1070,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001318879.2",
"gene_hgnc_id": 21332,
"gene_symbol": "STK32C",
"hgvs_c": "c.1070C>T",
"hgvs_p": "p.Pro357Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001305808.1",
"strand": false,
"transcript": "NM_001318879.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 175,
"aa_ref": "P",
"aa_start": 163,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1158,
"cdna_start": 597,
"cds_end": null,
"cds_length": 528,
"cds_start": 488,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000858942.1",
"gene_hgnc_id": 21332,
"gene_symbol": "STK32C",
"hgvs_c": "c.488C>T",
"hgvs_p": "p.Pro163Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529001.1",
"strand": false,
"transcript": "ENST00000858942.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 504,
"aa_ref": "P",
"aa_start": 492,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2187,
"cdna_start": 1619,
"cds_end": null,
"cds_length": 1515,
"cds_start": 1475,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "XM_011539688.2",
"gene_hgnc_id": 21332,
"gene_symbol": "STK32C",
"hgvs_c": "c.1475C>T",
"hgvs_p": "p.Pro492Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011537990.1",
"strand": false,
"transcript": "XM_011539688.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 491,
"aa_ref": "P",
"aa_start": 479,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2121,
"cdna_start": 1553,
"cds_end": null,
"cds_length": 1476,
"cds_start": 1436,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "XM_011539690.3",
"gene_hgnc_id": 21332,
"gene_symbol": "STK32C",
"hgvs_c": "c.1436C>T",
"hgvs_p": "p.Pro479Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011537992.1",
"strand": false,
"transcript": "XM_011539690.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 430,
"aa_ref": "P",
"aa_start": 418,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1821,
"cdna_start": 1253,
"cds_end": null,
"cds_length": 1293,
"cds_start": 1253,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "XM_024447949.2",
"gene_hgnc_id": 21332,
"gene_symbol": "STK32C",
"hgvs_c": "c.1253C>T",
"hgvs_p": "p.Pro418Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024303717.2",
"strand": false,
"transcript": "XM_024447949.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 425,
"aa_ref": "P",
"aa_start": 413,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1806,
"cdna_start": 1238,
"cds_end": null,
"cds_length": 1278,
"cds_start": 1238,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "XM_047425114.1",
"gene_hgnc_id": 21332,
"gene_symbol": "STK32C",
"hgvs_c": "c.1238C>T",
"hgvs_p": "p.Pro413Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047281070.1",
"strand": false,
"transcript": "XM_047425114.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 417,
"aa_ref": "P",
"aa_start": 405,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2616,
"cdna_start": 2048,
"cds_end": null,
"cds_length": 1254,
"cds_start": 1214,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "XM_047425113.1",
"gene_hgnc_id": 21332,
"gene_symbol": "STK32C",
"hgvs_c": "c.1214C>T",
"hgvs_p": "p.Pro405Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047281069.1",
"strand": false,
"transcript": "XM_047425113.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 369,
"aa_ref": "P",
"aa_start": 357,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1809,
"cdna_start": 1241,
"cds_end": null,
"cds_length": 1110,
"cds_start": 1070,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "XM_011539693.3",
"gene_hgnc_id": 21332,
"gene_symbol": "STK32C",
"hgvs_c": "c.1070C>T",
"hgvs_p": "p.Pro357Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011537995.1",
"strand": false,
"transcript": "XM_011539693.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 369,
"aa_ref": "P",
"aa_start": 357,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1867,
"cdna_start": 1299,
"cds_end": null,
"cds_length": 1110,
"cds_start": 1070,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "XM_011539694.2",
"gene_hgnc_id": 21332,
"gene_symbol": "STK32C",
"hgvs_c": "c.1070C>T",
"hgvs_p": "p.Pro357Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011537996.1",
"strand": false,
"transcript": "XM_011539694.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 369,
"aa_ref": "P",
"aa_start": 357,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2089,
"cdna_start": 1521,
"cds_end": null,
"cds_length": 1110,
"cds_start": 1070,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "XM_011539695.2",
"gene_hgnc_id": 21332,
"gene_symbol": "STK32C",
"hgvs_c": "c.1070C>T",
"hgvs_p": "p.Pro357Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011537997.1",
"strand": false,
"transcript": "XM_011539695.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 369,
"aa_ref": "P",
"aa_start": 357,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1748,
"cdna_start": 1180,
"cds_end": null,
"cds_length": 1110,
"cds_start": 1070,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "XM_047425115.1",
"gene_hgnc_id": 21332,
"gene_symbol": "STK32C",
"hgvs_c": "c.1070C>T",
"hgvs_p": "p.Pro357Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047281071.1",
"strand": false,
"transcript": "XM_047425115.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1866,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000462160.5",
"gene_hgnc_id": 21332,
"gene_symbol": "STK32C",
"hgvs_c": "n.1308C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000462160.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1876,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NR_134911.1",
"gene_hgnc_id": 21332,
"gene_symbol": "STK32C",
"hgvs_c": "n.1308C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "NR_134911.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs2062153477",
"effect": "missense_variant",
"frequency_reference_population": 0.0000025889028,
"gene_hgnc_id": 21332,
"gene_symbol": "STK32C",
"gnomad_exomes_ac": 3,
"gnomad_exomes_af": 0.0000025889,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Uncertain significance",
"phenotype_combined": "not specified",
"phylop100way_prediction": "Benign",
"phylop100way_score": -0.085,
"pos": 132208050,
"ref": "G",
"revel_prediction": "Benign",
"revel_score": 0.055,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_001318878.2"
}
]
}