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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: 10-102627177-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=102627177&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 21,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BA1"
],
"effects": [
"splice_region_variant",
"synonymous_variant"
],
"gene_symbol": "SUFU",
"hgnc_id": 16466,
"hgvs_c": "c.1299T>C",
"hgvs_p": "p.Ile433Ile",
"inheritance_mode": "AD,AR",
"pathogenic_score": 0,
"score": -21,
"transcript": "NM_016169.4",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BA1",
"acmg_score": -21,
"allele_count_reference_population": 184674,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "C",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.54,
"chr": "10",
"clinvar_classification": "Benign",
"clinvar_disease": "Familial meningioma,Gorlin syndrome,Hereditary cancer-predisposing syndrome,Medulloblastoma,not provided,not specified",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:9",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.5400000214576721,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 484,
"aa_ref": "I",
"aa_start": 433,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5016,
"cdna_start": 1480,
"cds_end": null,
"cds_length": 1455,
"cds_start": 1299,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_016169.4",
"gene_hgnc_id": 16466,
"gene_symbol": "SUFU",
"hgvs_c": "c.1299T>C",
"hgvs_p": "p.Ile433Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000369902.8",
"protein_coding": true,
"protein_id": "NP_057253.2",
"strand": true,
"transcript": "NM_016169.4",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 484,
"aa_ref": "I",
"aa_start": 433,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5016,
"cdna_start": 1480,
"cds_end": null,
"cds_length": 1455,
"cds_start": 1299,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000369902.8",
"gene_hgnc_id": 16466,
"gene_symbol": "SUFU",
"hgvs_c": "c.1299T>C",
"hgvs_p": "p.Ile433Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_016169.4",
"protein_coding": true,
"protein_id": "ENSP00000358918.4",
"strand": true,
"transcript": "ENST00000369902.8",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 527,
"aa_ref": "I",
"aa_start": 476,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5037,
"cdna_start": 1581,
"cds_end": null,
"cds_length": 1584,
"cds_start": 1428,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000929518.1",
"gene_hgnc_id": 16466,
"gene_symbol": "SUFU",
"hgvs_c": "c.1428T>C",
"hgvs_p": "p.Ile476Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000599577.1",
"strand": true,
"transcript": "ENST00000929518.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 526,
"aa_ref": "I",
"aa_start": 475,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5063,
"cdna_start": 1606,
"cds_end": null,
"cds_length": 1581,
"cds_start": 1425,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000893176.1",
"gene_hgnc_id": 16466,
"gene_symbol": "SUFU",
"hgvs_c": "c.1425T>C",
"hgvs_p": "p.Ile475Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563235.1",
"strand": true,
"transcript": "ENST00000893176.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 485,
"aa_ref": "I",
"aa_start": 434,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4958,
"cdna_start": 1498,
"cds_end": null,
"cds_length": 1458,
"cds_start": 1302,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000893175.1",
"gene_hgnc_id": 16466,
"gene_symbol": "SUFU",
"hgvs_c": "c.1302T>C",
"hgvs_p": "p.Ile434Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563234.1",
"strand": true,
"transcript": "ENST00000893175.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 483,
"aa_ref": "I",
"aa_start": 432,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2230,
"cdna_start": 1477,
"cds_end": null,
"cds_length": 1452,
"cds_start": 1296,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000929519.1",
"gene_hgnc_id": 16466,
"gene_symbol": "SUFU",
"hgvs_c": "c.1296T>C",
"hgvs_p": "p.Ile432Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000599578.1",
"strand": true,
"transcript": "ENST00000929519.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 482,
"aa_ref": "I",
"aa_start": 431,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4946,
"cdna_start": 1494,
"cds_end": null,
"cds_length": 1449,
"cds_start": 1293,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000929517.1",
"gene_hgnc_id": 16466,
"gene_symbol": "SUFU",
"hgvs_c": "c.1293T>C",
"hgvs_p": "p.Ile431Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000599576.1",
"strand": true,
"transcript": "ENST00000929517.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 527,
"aa_ref": "I",
"aa_start": 476,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5145,
"cdna_start": 1609,
"cds_end": null,
"cds_length": 1584,
"cds_start": 1428,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "XM_011539858.4",
"gene_hgnc_id": 16466,
"gene_symbol": "SUFU",
"hgvs_c": "c.1428T>C",
"hgvs_p": "p.Ile476Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011538160.1",
"strand": true,
"transcript": "XM_011539858.4",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 527,
"aa_ref": "I",
"aa_start": 476,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5161,
"cdna_start": 1625,
"cds_end": null,
"cds_length": 1584,
"cds_start": 1428,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "XM_047425335.1",
"gene_hgnc_id": 16466,
"gene_symbol": "SUFU",
"hgvs_c": "c.1428T>C",
"hgvs_p": "p.Ile476Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047281291.1",
"strand": true,
"transcript": "XM_047425335.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 526,
"aa_ref": "I",
"aa_start": 475,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5142,
"cdna_start": 1606,
"cds_end": null,
"cds_length": 1581,
"cds_start": 1425,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "XM_011539860.4",
"gene_hgnc_id": 16466,
"gene_symbol": "SUFU",
"hgvs_c": "c.1425T>C",
"hgvs_p": "p.Ile475Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011538162.1",
"strand": true,
"transcript": "XM_011539860.4",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 501,
"aa_ref": "I",
"aa_start": 450,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5282,
"cdna_start": 1746,
"cds_end": null,
"cds_length": 1506,
"cds_start": 1350,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "XM_047425336.1",
"gene_hgnc_id": 16466,
"gene_symbol": "SUFU",
"hgvs_c": "c.1350T>C",
"hgvs_p": "p.Ile450Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047281292.1",
"strand": true,
"transcript": "XM_047425336.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 485,
"aa_ref": "I",
"aa_start": 434,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5019,
"cdna_start": 1483,
"cds_end": null,
"cds_length": 1458,
"cds_start": 1302,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "XM_011539861.4",
"gene_hgnc_id": 16466,
"gene_symbol": "SUFU",
"hgvs_c": "c.1302T>C",
"hgvs_p": "p.Ile434Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011538163.1",
"strand": true,
"transcript": "XM_011539861.4",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 469,
"aa_ref": "I",
"aa_start": 418,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4950,
"cdna_start": 1414,
"cds_end": null,
"cds_length": 1410,
"cds_start": 1254,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "XM_011539863.4",
"gene_hgnc_id": 16466,
"gene_symbol": "SUFU",
"hgvs_c": "c.1254T>C",
"hgvs_p": "p.Ile418Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011538165.1",
"strand": true,
"transcript": "XM_011539863.4",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 459,
"aa_ref": "I",
"aa_start": 408,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5156,
"cdna_start": 1620,
"cds_end": null,
"cds_length": 1380,
"cds_start": 1224,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "XM_047425337.1",
"gene_hgnc_id": 16466,
"gene_symbol": "SUFU",
"hgvs_c": "c.1224T>C",
"hgvs_p": "p.Ile408Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047281293.1",
"strand": true,
"transcript": "XM_047425337.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 458,
"aa_ref": "I",
"aa_start": 407,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5153,
"cdna_start": 1617,
"cds_end": null,
"cds_length": 1377,
"cds_start": 1221,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "XM_047425338.1",
"gene_hgnc_id": 16466,
"gene_symbol": "SUFU",
"hgvs_c": "c.1221T>C",
"hgvs_p": "p.Ile407Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047281294.1",
"strand": true,
"transcript": "XM_047425338.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 455,
"aa_ref": "I",
"aa_start": 404,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5410,
"cdna_start": 1874,
"cds_end": null,
"cds_length": 1368,
"cds_start": 1212,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "XM_047425339.1",
"gene_hgnc_id": 16466,
"gene_symbol": "SUFU",
"hgvs_c": "c.1212T>C",
"hgvs_p": "p.Ile404Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047281295.1",
"strand": true,
"transcript": "XM_047425339.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 462,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4838,
"cdna_start": null,
"cds_end": null,
"cds_length": 1389,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000893178.1",
"gene_hgnc_id": 16466,
"gene_symbol": "SUFU",
"hgvs_c": "c.1300-2889T>C",
"hgvs_p": null,
"intron_rank": 10,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563237.1",
"strand": true,
"transcript": "ENST00000893178.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 461,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4866,
"cdna_start": null,
"cds_end": null,
"cds_length": 1386,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000893177.1",
"gene_hgnc_id": 16466,
"gene_symbol": "SUFU",
"hgvs_c": "c.1297-2889T>C",
"hgvs_p": null,
"intron_rank": 10,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563236.1",
"strand": true,
"transcript": "ENST00000893177.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs17114803",
"effect": "splice_region_variant,synonymous_variant",
"frequency_reference_population": 0.11445454,
"gene_hgnc_id": 16466,
"gene_symbol": "SUFU",
"gnomad_exomes_ac": 161590,
"gnomad_exomes_af": 0.110583,
"gnomad_exomes_homalt": 13655,
"gnomad_genomes_ac": 23084,
"gnomad_genomes_af": 0.151609,
"gnomad_genomes_homalt": 2263,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 15918,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Benign",
"phenotype_combined": "not specified|Medulloblastoma|not provided|Hereditary cancer-predisposing syndrome|Gorlin syndrome;Medulloblastoma|Familial meningioma",
"phylop100way_prediction": "Benign",
"phylop100way_score": 0.661,
"pos": 102627177,
"ref": "T",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_016169.4"
}
]
}