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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: 10-102627203-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=102627203&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 102627203,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000369902.8",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUFU",
"gene_hgnc_id": 16466,
"hgvs_c": "c.1325A>G",
"hgvs_p": "p.Lys442Arg",
"transcript": "NM_016169.4",
"protein_id": "NP_057253.2",
"transcript_support_level": null,
"aa_start": 442,
"aa_end": null,
"aa_length": 484,
"cds_start": 1325,
"cds_end": null,
"cds_length": 1455,
"cdna_start": 1506,
"cdna_end": null,
"cdna_length": 5016,
"mane_select": "ENST00000369902.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUFU",
"gene_hgnc_id": 16466,
"hgvs_c": "c.1325A>G",
"hgvs_p": "p.Lys442Arg",
"transcript": "ENST00000369902.8",
"protein_id": "ENSP00000358918.4",
"transcript_support_level": 1,
"aa_start": 442,
"aa_end": null,
"aa_length": 484,
"cds_start": 1325,
"cds_end": null,
"cds_length": 1455,
"cdna_start": 1506,
"cdna_end": null,
"cdna_length": 5016,
"mane_select": "NM_016169.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUFU",
"gene_hgnc_id": 16466,
"hgvs_c": "c.1454A>G",
"hgvs_p": "p.Lys485Arg",
"transcript": "XM_011539858.4",
"protein_id": "XP_011538160.1",
"transcript_support_level": null,
"aa_start": 485,
"aa_end": null,
"aa_length": 527,
"cds_start": 1454,
"cds_end": null,
"cds_length": 1584,
"cdna_start": 1635,
"cdna_end": null,
"cdna_length": 5145,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUFU",
"gene_hgnc_id": 16466,
"hgvs_c": "c.1454A>G",
"hgvs_p": "p.Lys485Arg",
"transcript": "XM_047425335.1",
"protein_id": "XP_047281291.1",
"transcript_support_level": null,
"aa_start": 485,
"aa_end": null,
"aa_length": 527,
"cds_start": 1454,
"cds_end": null,
"cds_length": 1584,
"cdna_start": 1651,
"cdna_end": null,
"cdna_length": 5161,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUFU",
"gene_hgnc_id": 16466,
"hgvs_c": "c.1451A>G",
"hgvs_p": "p.Lys484Arg",
"transcript": "XM_011539860.4",
"protein_id": "XP_011538162.1",
"transcript_support_level": null,
"aa_start": 484,
"aa_end": null,
"aa_length": 526,
"cds_start": 1451,
"cds_end": null,
"cds_length": 1581,
"cdna_start": 1632,
"cdna_end": null,
"cdna_length": 5142,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUFU",
"gene_hgnc_id": 16466,
"hgvs_c": "c.1376A>G",
"hgvs_p": "p.Lys459Arg",
"transcript": "XM_047425336.1",
"protein_id": "XP_047281292.1",
"transcript_support_level": null,
"aa_start": 459,
"aa_end": null,
"aa_length": 501,
"cds_start": 1376,
"cds_end": null,
"cds_length": 1506,
"cdna_start": 1772,
"cdna_end": null,
"cdna_length": 5282,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUFU",
"gene_hgnc_id": 16466,
"hgvs_c": "c.1328A>G",
"hgvs_p": "p.Lys443Arg",
"transcript": "XM_011539861.4",
"protein_id": "XP_011538163.1",
"transcript_support_level": null,
"aa_start": 443,
"aa_end": null,
"aa_length": 485,
"cds_start": 1328,
"cds_end": null,
"cds_length": 1458,
"cdna_start": 1509,
"cdna_end": null,
"cdna_length": 5019,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUFU",
"gene_hgnc_id": 16466,
"hgvs_c": "c.1280A>G",
"hgvs_p": "p.Lys427Arg",
"transcript": "XM_011539863.4",
"protein_id": "XP_011538165.1",
"transcript_support_level": null,
"aa_start": 427,
"aa_end": null,
"aa_length": 469,
"cds_start": 1280,
"cds_end": null,
"cds_length": 1410,
"cdna_start": 1440,
"cdna_end": null,
"cdna_length": 4950,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUFU",
"gene_hgnc_id": 16466,
"hgvs_c": "c.1250A>G",
"hgvs_p": "p.Lys417Arg",
"transcript": "XM_047425337.1",
"protein_id": "XP_047281293.1",
"transcript_support_level": null,
"aa_start": 417,
"aa_end": null,
"aa_length": 459,
"cds_start": 1250,
"cds_end": null,
"cds_length": 1380,
"cdna_start": 1646,
"cdna_end": null,
"cdna_length": 5156,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUFU",
"gene_hgnc_id": 16466,
"hgvs_c": "c.1247A>G",
"hgvs_p": "p.Lys416Arg",
"transcript": "XM_047425338.1",
"protein_id": "XP_047281294.1",
"transcript_support_level": null,
"aa_start": 416,
"aa_end": null,
"aa_length": 458,
"cds_start": 1247,
"cds_end": null,
"cds_length": 1377,
"cdna_start": 1643,
"cdna_end": null,
"cdna_length": 5153,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUFU",
"gene_hgnc_id": 16466,
"hgvs_c": "c.1238A>G",
"hgvs_p": "p.Lys413Arg",
"transcript": "XM_047425339.1",
"protein_id": "XP_047281295.1",
"transcript_support_level": null,
"aa_start": 413,
"aa_end": null,
"aa_length": 455,
"cds_start": 1238,
"cds_end": null,
"cds_length": 1368,
"cdna_start": 1900,
"cdna_end": null,
"cdna_length": 5410,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SUFU",
"gene_hgnc_id": 16466,
"dbsnp": "rs772598739",
"frequency_reference_population": 0.0000123895625,
"hom_count_reference_population": 0,
"allele_count_reference_population": 20,
"gnomad_exomes_af": 0.0000109448,
"gnomad_genomes_af": 0.0000262505,
"gnomad_exomes_ac": 16,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.07635077834129333,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.073,
"revel_prediction": "Benign",
"alphamissense_score": 0.0673,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.59,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.405,
"phylop100way_prediction": "Uncertain_significance",
"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": "BP4_Moderate,BP6",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 3,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6"
],
"verdict": "Likely_benign",
"transcript": "ENST00000369902.8",
"gene_symbol": "SUFU",
"hgnc_id": 16466,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.1325A>G",
"hgvs_p": "p.Lys442Arg"
}
],
"clinvar_disease": "Gorlin syndrome,Hereditary cancer-predisposing syndrome,Medulloblastoma",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:1",
"phenotype_combined": "Medulloblastoma;Gorlin syndrome|Hereditary cancer-predisposing syndrome",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}