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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: 10-102627207-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=102627207&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 102627207,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000369902.8",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "I",
"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.1329G>A",
"hgvs_p": "p.Met443Ile",
"transcript": "NM_016169.4",
"protein_id": "NP_057253.2",
"transcript_support_level": null,
"aa_start": 443,
"aa_end": null,
"aa_length": 484,
"cds_start": 1329,
"cds_end": null,
"cds_length": 1455,
"cdna_start": 1510,
"cdna_end": null,
"cdna_length": 5016,
"mane_select": "ENST00000369902.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"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.1329G>A",
"hgvs_p": "p.Met443Ile",
"transcript": "ENST00000369902.8",
"protein_id": "ENSP00000358918.4",
"transcript_support_level": 1,
"aa_start": 443,
"aa_end": null,
"aa_length": 484,
"cds_start": 1329,
"cds_end": null,
"cds_length": 1455,
"cdna_start": 1510,
"cdna_end": null,
"cdna_length": 5016,
"mane_select": "NM_016169.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"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.1458G>A",
"hgvs_p": "p.Met486Ile",
"transcript": "XM_011539858.4",
"protein_id": "XP_011538160.1",
"transcript_support_level": null,
"aa_start": 486,
"aa_end": null,
"aa_length": 527,
"cds_start": 1458,
"cds_end": null,
"cds_length": 1584,
"cdna_start": 1639,
"cdna_end": null,
"cdna_length": 5145,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"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.1458G>A",
"hgvs_p": "p.Met486Ile",
"transcript": "XM_047425335.1",
"protein_id": "XP_047281291.1",
"transcript_support_level": null,
"aa_start": 486,
"aa_end": null,
"aa_length": 527,
"cds_start": 1458,
"cds_end": null,
"cds_length": 1584,
"cdna_start": 1655,
"cdna_end": null,
"cdna_length": 5161,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"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.1455G>A",
"hgvs_p": "p.Met485Ile",
"transcript": "XM_011539860.4",
"protein_id": "XP_011538162.1",
"transcript_support_level": null,
"aa_start": 485,
"aa_end": null,
"aa_length": 526,
"cds_start": 1455,
"cds_end": null,
"cds_length": 1581,
"cdna_start": 1636,
"cdna_end": null,
"cdna_length": 5142,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"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.1380G>A",
"hgvs_p": "p.Met460Ile",
"transcript": "XM_047425336.1",
"protein_id": "XP_047281292.1",
"transcript_support_level": null,
"aa_start": 460,
"aa_end": null,
"aa_length": 501,
"cds_start": 1380,
"cds_end": null,
"cds_length": 1506,
"cdna_start": 1776,
"cdna_end": null,
"cdna_length": 5282,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"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.1332G>A",
"hgvs_p": "p.Met444Ile",
"transcript": "XM_011539861.4",
"protein_id": "XP_011538163.1",
"transcript_support_level": null,
"aa_start": 444,
"aa_end": null,
"aa_length": 485,
"cds_start": 1332,
"cds_end": null,
"cds_length": 1458,
"cdna_start": 1513,
"cdna_end": null,
"cdna_length": 5019,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"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.1284G>A",
"hgvs_p": "p.Met428Ile",
"transcript": "XM_011539863.4",
"protein_id": "XP_011538165.1",
"transcript_support_level": null,
"aa_start": 428,
"aa_end": null,
"aa_length": 469,
"cds_start": 1284,
"cds_end": null,
"cds_length": 1410,
"cdna_start": 1444,
"cdna_end": null,
"cdna_length": 4950,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"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.1254G>A",
"hgvs_p": "p.Met418Ile",
"transcript": "XM_047425337.1",
"protein_id": "XP_047281293.1",
"transcript_support_level": null,
"aa_start": 418,
"aa_end": null,
"aa_length": 459,
"cds_start": 1254,
"cds_end": null,
"cds_length": 1380,
"cdna_start": 1650,
"cdna_end": null,
"cdna_length": 5156,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"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.1251G>A",
"hgvs_p": "p.Met417Ile",
"transcript": "XM_047425338.1",
"protein_id": "XP_047281294.1",
"transcript_support_level": null,
"aa_start": 417,
"aa_end": null,
"aa_length": 458,
"cds_start": 1251,
"cds_end": null,
"cds_length": 1377,
"cdna_start": 1647,
"cdna_end": null,
"cdna_length": 5153,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"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.1242G>A",
"hgvs_p": "p.Met414Ile",
"transcript": "XM_047425339.1",
"protein_id": "XP_047281295.1",
"transcript_support_level": null,
"aa_start": 414,
"aa_end": null,
"aa_length": 455,
"cds_start": 1242,
"cds_end": null,
"cds_length": 1368,
"cdna_start": 1904,
"cdna_end": null,
"cdna_length": 5410,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SUFU",
"gene_hgnc_id": 16466,
"dbsnp": "rs773805575",
"frequency_reference_population": 0.0000018585818,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 0.0000013681,
"gnomad_genomes_af": 0.00000656789,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.650627076625824,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.294,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.8268,
"alphamissense_prediction": "Pathogenic",
"bayesdelnoaf_score": -0.11,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 9.104,
"phylop100way_prediction": "Pathogenic",
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000369902.8",
"gene_symbol": "SUFU",
"hgnc_id": 16466,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.1329G>A",
"hgvs_p": "p.Met443Ile"
}
],
"clinvar_disease": "Gorlin syndrome,Hereditary cancer-predisposing syndrome,Medulloblastoma",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "Gorlin syndrome;Medulloblastoma|Hereditary cancer-predisposing syndrome",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}