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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: 10-132208086-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=132208086&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 132208086,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001318878.2",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STK32C",
"gene_hgnc_id": 21332,
"hgvs_c": "c.1385A>G",
"hgvs_p": "p.Glu462Gly",
"transcript": "NM_173575.4",
"protein_id": "NP_775846.2",
"transcript_support_level": null,
"aa_start": 462,
"aa_end": null,
"aa_length": 486,
"cds_start": 1385,
"cds_end": null,
"cds_length": 1461,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000298630.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_173575.4"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STK32C",
"gene_hgnc_id": 21332,
"hgvs_c": "c.1385A>G",
"hgvs_p": "p.Glu462Gly",
"transcript": "ENST00000298630.8",
"protein_id": "ENSP00000298630.3",
"transcript_support_level": 1,
"aa_start": 462,
"aa_end": null,
"aa_length": 486,
"cds_start": 1385,
"cds_end": null,
"cds_length": 1461,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_173575.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000298630.8"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STK32C",
"gene_hgnc_id": 21332,
"hgvs_c": "c.1034A>G",
"hgvs_p": "p.Glu345Gly",
"transcript": "ENST00000368622.5",
"protein_id": "ENSP00000357611.1",
"transcript_support_level": 1,
"aa_start": 345,
"aa_end": null,
"aa_length": 369,
"cds_start": 1034,
"cds_end": null,
"cds_length": 1110,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000368622.5"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STK32C",
"gene_hgnc_id": 21332,
"hgvs_c": "c.1424A>G",
"hgvs_p": "p.Glu475Gly",
"transcript": "NM_001318878.2",
"protein_id": "NP_001305807.1",
"transcript_support_level": null,
"aa_start": 475,
"aa_end": null,
"aa_length": 499,
"cds_start": 1424,
"cds_end": null,
"cds_length": 1500,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318878.2"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STK32C",
"gene_hgnc_id": 21332,
"hgvs_c": "c.1409A>G",
"hgvs_p": "p.Glu470Gly",
"transcript": "ENST00000916800.1",
"protein_id": "ENSP00000586859.1",
"transcript_support_level": null,
"aa_start": 470,
"aa_end": null,
"aa_length": 494,
"cds_start": 1409,
"cds_end": null,
"cds_length": 1485,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916800.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STK32C",
"gene_hgnc_id": 21332,
"hgvs_c": "c.1259A>G",
"hgvs_p": "p.Glu420Gly",
"transcript": "ENST00000956240.1",
"protein_id": "ENSP00000626299.1",
"transcript_support_level": null,
"aa_start": 420,
"aa_end": null,
"aa_length": 444,
"cds_start": 1259,
"cds_end": null,
"cds_length": 1335,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956240.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STK32C",
"gene_hgnc_id": 21332,
"hgvs_c": "c.1034A>G",
"hgvs_p": "p.Glu345Gly",
"transcript": "NM_001318879.2",
"protein_id": "NP_001305808.1",
"transcript_support_level": null,
"aa_start": 345,
"aa_end": null,
"aa_length": 369,
"cds_start": 1034,
"cds_end": null,
"cds_length": 1110,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318879.2"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STK32C",
"gene_hgnc_id": 21332,
"hgvs_c": "c.452A>G",
"hgvs_p": "p.Glu151Gly",
"transcript": "ENST00000858942.1",
"protein_id": "ENSP00000529001.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 175,
"cds_start": 452,
"cds_end": null,
"cds_length": 528,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858942.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STK32C",
"gene_hgnc_id": 21332,
"hgvs_c": "c.1439A>G",
"hgvs_p": "p.Glu480Gly",
"transcript": "XM_011539688.2",
"protein_id": "XP_011537990.1",
"transcript_support_level": null,
"aa_start": 480,
"aa_end": null,
"aa_length": 504,
"cds_start": 1439,
"cds_end": null,
"cds_length": 1515,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011539688.2"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STK32C",
"gene_hgnc_id": 21332,
"hgvs_c": "c.1400A>G",
"hgvs_p": "p.Glu467Gly",
"transcript": "XM_011539690.3",
"protein_id": "XP_011537992.1",
"transcript_support_level": null,
"aa_start": 467,
"aa_end": null,
"aa_length": 491,
"cds_start": 1400,
"cds_end": null,
"cds_length": 1476,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011539690.3"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STK32C",
"gene_hgnc_id": 21332,
"hgvs_c": "c.1217A>G",
"hgvs_p": "p.Glu406Gly",
"transcript": "XM_024447949.2",
"protein_id": "XP_024303717.2",
"transcript_support_level": null,
"aa_start": 406,
"aa_end": null,
"aa_length": 430,
"cds_start": 1217,
"cds_end": null,
"cds_length": 1293,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024447949.2"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STK32C",
"gene_hgnc_id": 21332,
"hgvs_c": "c.1202A>G",
"hgvs_p": "p.Glu401Gly",
"transcript": "XM_047425114.1",
"protein_id": "XP_047281070.1",
"transcript_support_level": null,
"aa_start": 401,
"aa_end": null,
"aa_length": 425,
"cds_start": 1202,
"cds_end": null,
"cds_length": 1278,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425114.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STK32C",
"gene_hgnc_id": 21332,
"hgvs_c": "c.1178A>G",
"hgvs_p": "p.Glu393Gly",
"transcript": "XM_047425113.1",
"protein_id": "XP_047281069.1",
"transcript_support_level": null,
"aa_start": 393,
"aa_end": null,
"aa_length": 417,
"cds_start": 1178,
"cds_end": null,
"cds_length": 1254,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425113.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STK32C",
"gene_hgnc_id": 21332,
"hgvs_c": "c.1034A>G",
"hgvs_p": "p.Glu345Gly",
"transcript": "XM_011539693.3",
"protein_id": "XP_011537995.1",
"transcript_support_level": null,
"aa_start": 345,
"aa_end": null,
"aa_length": 369,
"cds_start": 1034,
"cds_end": null,
"cds_length": 1110,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011539693.3"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STK32C",
"gene_hgnc_id": 21332,
"hgvs_c": "c.1034A>G",
"hgvs_p": "p.Glu345Gly",
"transcript": "XM_011539694.2",
"protein_id": "XP_011537996.1",
"transcript_support_level": null,
"aa_start": 345,
"aa_end": null,
"aa_length": 369,
"cds_start": 1034,
"cds_end": null,
"cds_length": 1110,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011539694.2"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STK32C",
"gene_hgnc_id": 21332,
"hgvs_c": "c.1034A>G",
"hgvs_p": "p.Glu345Gly",
"transcript": "XM_011539695.2",
"protein_id": "XP_011537997.1",
"transcript_support_level": null,
"aa_start": 345,
"aa_end": null,
"aa_length": 369,
"cds_start": 1034,
"cds_end": null,
"cds_length": 1110,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011539695.2"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STK32C",
"gene_hgnc_id": 21332,
"hgvs_c": "c.1034A>G",
"hgvs_p": "p.Glu345Gly",
"transcript": "XM_047425115.1",
"protein_id": "XP_047281071.1",
"transcript_support_level": null,
"aa_start": 345,
"aa_end": null,
"aa_length": 369,
"cds_start": 1034,
"cds_end": null,
"cds_length": 1110,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425115.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STK32C",
"gene_hgnc_id": 21332,
"hgvs_c": "n.1272A>G",
"hgvs_p": null,
"transcript": "ENST00000462160.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000462160.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STK32C",
"gene_hgnc_id": 21332,
"hgvs_c": "n.1272A>G",
"hgvs_p": null,
"transcript": "NR_134911.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_134911.1"
}
],
"gene_symbol": "STK32C",
"gene_hgnc_id": 21332,
"dbsnp": "rs759091739",
"frequency_reference_population": 0.000008629289,
"hom_count_reference_population": 0,
"allele_count_reference_population": 10,
"gnomad_exomes_af": 0.00000862929,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 10,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0385708212852478,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.136,
"revel_prediction": "Benign",
"alphamissense_score": 0.0618,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.33,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.592,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_001318878.2",
"gene_symbol": "STK32C",
"hgnc_id": 21332,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1424A>G",
"hgvs_p": "p.Glu475Gly"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}