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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: 10-102615336-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=102615336&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 102615336,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000369902.8",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUFU",
"gene_hgnc_id": 16466,
"hgvs_c": "c.1091G>A",
"hgvs_p": "p.Arg364Gln",
"transcript": "NM_016169.4",
"protein_id": "NP_057253.2",
"transcript_support_level": null,
"aa_start": 364,
"aa_end": null,
"aa_length": 484,
"cds_start": 1091,
"cds_end": null,
"cds_length": 1455,
"cdna_start": 1272,
"cdna_end": null,
"cdna_length": 5016,
"mane_select": "ENST00000369902.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUFU",
"gene_hgnc_id": 16466,
"hgvs_c": "c.1091G>A",
"hgvs_p": "p.Arg364Gln",
"transcript": "ENST00000369902.8",
"protein_id": "ENSP00000358918.4",
"transcript_support_level": 1,
"aa_start": 364,
"aa_end": null,
"aa_length": 484,
"cds_start": 1091,
"cds_end": null,
"cds_length": 1455,
"cdna_start": 1272,
"cdna_end": null,
"cdna_length": 5016,
"mane_select": "NM_016169.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUFU",
"gene_hgnc_id": 16466,
"hgvs_c": "c.1091G>A",
"hgvs_p": "p.Arg364Gln",
"transcript": "ENST00000423559.2",
"protein_id": "ENSP00000411597.2",
"transcript_support_level": 1,
"aa_start": 364,
"aa_end": null,
"aa_length": 481,
"cds_start": 1091,
"cds_end": null,
"cds_length": 1446,
"cdna_start": 1165,
"cdna_end": null,
"cdna_length": 2601,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUFU",
"gene_hgnc_id": 16466,
"hgvs_c": "c.1091G>A",
"hgvs_p": "p.Arg364Gln",
"transcript": "ENST00000369899.6",
"protein_id": "ENSP00000358915.2",
"transcript_support_level": 1,
"aa_start": 364,
"aa_end": null,
"aa_length": 433,
"cds_start": 1091,
"cds_end": null,
"cds_length": 1302,
"cdna_start": 1237,
"cdna_end": null,
"cdna_length": 1839,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUFU",
"gene_hgnc_id": 16466,
"hgvs_c": "c.1091G>A",
"hgvs_p": "p.Arg364Gln",
"transcript": "NM_001178133.2",
"protein_id": "NP_001171604.1",
"transcript_support_level": null,
"aa_start": 364,
"aa_end": null,
"aa_length": 433,
"cds_start": 1091,
"cds_end": null,
"cds_length": 1302,
"cdna_start": 1272,
"cdna_end": null,
"cdna_length": 1880,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUFU",
"gene_hgnc_id": 16466,
"hgvs_c": "c.1094G>A",
"hgvs_p": "p.Arg365Gln",
"transcript": "XM_011539858.4",
"protein_id": "XP_011538160.1",
"transcript_support_level": null,
"aa_start": 365,
"aa_end": null,
"aa_length": 527,
"cds_start": 1094,
"cds_end": null,
"cds_length": 1584,
"cdna_start": 1275,
"cdna_end": null,
"cdna_length": 5145,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUFU",
"gene_hgnc_id": 16466,
"hgvs_c": "c.1094G>A",
"hgvs_p": "p.Arg365Gln",
"transcript": "XM_047425335.1",
"protein_id": "XP_047281291.1",
"transcript_support_level": null,
"aa_start": 365,
"aa_end": null,
"aa_length": 527,
"cds_start": 1094,
"cds_end": null,
"cds_length": 1584,
"cdna_start": 1291,
"cdna_end": null,
"cdna_length": 5161,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUFU",
"gene_hgnc_id": 16466,
"hgvs_c": "c.1091G>A",
"hgvs_p": "p.Arg364Gln",
"transcript": "XM_011539860.4",
"protein_id": "XP_011538162.1",
"transcript_support_level": null,
"aa_start": 364,
"aa_end": null,
"aa_length": 526,
"cds_start": 1091,
"cds_end": null,
"cds_length": 1581,
"cdna_start": 1272,
"cdna_end": null,
"cdna_length": 5142,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUFU",
"gene_hgnc_id": 16466,
"hgvs_c": "c.1016G>A",
"hgvs_p": "p.Arg339Gln",
"transcript": "XM_047425336.1",
"protein_id": "XP_047281292.1",
"transcript_support_level": null,
"aa_start": 339,
"aa_end": null,
"aa_length": 501,
"cds_start": 1016,
"cds_end": null,
"cds_length": 1506,
"cdna_start": 1412,
"cdna_end": null,
"cdna_length": 5282,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUFU",
"gene_hgnc_id": 16466,
"hgvs_c": "c.1094G>A",
"hgvs_p": "p.Arg365Gln",
"transcript": "XM_011539861.4",
"protein_id": "XP_011538163.1",
"transcript_support_level": null,
"aa_start": 365,
"aa_end": null,
"aa_length": 485,
"cds_start": 1094,
"cds_end": null,
"cds_length": 1458,
"cdna_start": 1275,
"cdna_end": null,
"cdna_length": 5019,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUFU",
"gene_hgnc_id": 16466,
"hgvs_c": "c.920G>A",
"hgvs_p": "p.Arg307Gln",
"transcript": "XM_011539863.4",
"protein_id": "XP_011538165.1",
"transcript_support_level": null,
"aa_start": 307,
"aa_end": null,
"aa_length": 469,
"cds_start": 920,
"cds_end": null,
"cds_length": 1410,
"cdna_start": 1080,
"cdna_end": null,
"cdna_length": 4950,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUFU",
"gene_hgnc_id": 16466,
"hgvs_c": "c.1016G>A",
"hgvs_p": "p.Arg339Gln",
"transcript": "XM_047425337.1",
"protein_id": "XP_047281293.1",
"transcript_support_level": null,
"aa_start": 339,
"aa_end": null,
"aa_length": 459,
"cds_start": 1016,
"cds_end": null,
"cds_length": 1380,
"cdna_start": 1412,
"cdna_end": null,
"cdna_length": 5156,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUFU",
"gene_hgnc_id": 16466,
"hgvs_c": "c.1013G>A",
"hgvs_p": "p.Arg338Gln",
"transcript": "XM_047425338.1",
"protein_id": "XP_047281294.1",
"transcript_support_level": null,
"aa_start": 338,
"aa_end": null,
"aa_length": 458,
"cds_start": 1013,
"cds_end": null,
"cds_length": 1377,
"cdna_start": 1409,
"cdna_end": null,
"cdna_length": 5153,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUFU",
"gene_hgnc_id": 16466,
"hgvs_c": "c.878G>A",
"hgvs_p": "p.Arg293Gln",
"transcript": "XM_047425339.1",
"protein_id": "XP_047281295.1",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 455,
"cds_start": 878,
"cds_end": null,
"cds_length": 1368,
"cdna_start": 1540,
"cdna_end": null,
"cdna_length": 5410,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUFU",
"gene_hgnc_id": 16466,
"hgvs_c": "c.1094G>A",
"hgvs_p": "p.Arg365Gln",
"transcript": "XM_011539864.3",
"protein_id": "XP_011538166.1",
"transcript_support_level": null,
"aa_start": 365,
"aa_end": null,
"aa_length": 434,
"cds_start": 1094,
"cds_end": null,
"cds_length": 1305,
"cdna_start": 1275,
"cdna_end": null,
"cdna_length": 1883,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SUFU",
"gene_hgnc_id": 16466,
"dbsnp": "rs749802616",
"frequency_reference_population": 0.000003717472,
"hom_count_reference_population": 0,
"allele_count_reference_population": 6,
"gnomad_exomes_af": 0.00000342027,
"gnomad_genomes_af": 0.00000657341,
"gnomad_exomes_ac": 5,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6282387971878052,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.209,
"revel_prediction": "Benign",
"alphamissense_score": 0.4709,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.11,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 9.602,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "ENST00000369902.8",
"gene_symbol": "SUFU",
"hgnc_id": 16466,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.1091G>A",
"hgvs_p": "p.Arg364Gln"
}
],
"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
}