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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: 10-102615349-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=102615349&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 102615349,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_016169.4",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_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.1104C>T",
"hgvs_p": "p.Ser368Ser",
"transcript": "NM_016169.4",
"protein_id": "NP_057253.2",
"transcript_support_level": null,
"aa_start": 368,
"aa_end": null,
"aa_length": 484,
"cds_start": 1104,
"cds_end": null,
"cds_length": 1455,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000369902.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016169.4"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_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.1104C>T",
"hgvs_p": "p.Ser368Ser",
"transcript": "ENST00000369902.8",
"protein_id": "ENSP00000358918.4",
"transcript_support_level": 1,
"aa_start": 368,
"aa_end": null,
"aa_length": 484,
"cds_start": 1104,
"cds_end": null,
"cds_length": 1455,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_016169.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000369902.8"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_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.1104C>T",
"hgvs_p": "p.Ser368Ser",
"transcript": "ENST00000423559.2",
"protein_id": "ENSP00000411597.2",
"transcript_support_level": 1,
"aa_start": 368,
"aa_end": null,
"aa_length": 481,
"cds_start": 1104,
"cds_end": null,
"cds_length": 1446,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000423559.2"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_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.1104C>T",
"hgvs_p": "p.Ser368Ser",
"transcript": "ENST00000369899.6",
"protein_id": "ENSP00000358915.2",
"transcript_support_level": 1,
"aa_start": 368,
"aa_end": null,
"aa_length": 433,
"cds_start": 1104,
"cds_end": null,
"cds_length": 1302,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000369899.6"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_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.1107C>T",
"hgvs_p": "p.Ser369Ser",
"transcript": "ENST00000929518.1",
"protein_id": "ENSP00000599577.1",
"transcript_support_level": null,
"aa_start": 369,
"aa_end": null,
"aa_length": 527,
"cds_start": 1107,
"cds_end": null,
"cds_length": 1584,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929518.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_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.1104C>T",
"hgvs_p": "p.Ser368Ser",
"transcript": "ENST00000893176.1",
"protein_id": "ENSP00000563235.1",
"transcript_support_level": null,
"aa_start": 368,
"aa_end": null,
"aa_length": 526,
"cds_start": 1104,
"cds_end": null,
"cds_length": 1581,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893176.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_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.1107C>T",
"hgvs_p": "p.Ser369Ser",
"transcript": "ENST00000893175.1",
"protein_id": "ENSP00000563234.1",
"transcript_support_level": null,
"aa_start": 369,
"aa_end": null,
"aa_length": 485,
"cds_start": 1107,
"cds_end": null,
"cds_length": 1458,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893175.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_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.1101C>T",
"hgvs_p": "p.Ser367Ser",
"transcript": "ENST00000929519.1",
"protein_id": "ENSP00000599578.1",
"transcript_support_level": null,
"aa_start": 367,
"aa_end": null,
"aa_length": 483,
"cds_start": 1101,
"cds_end": null,
"cds_length": 1452,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929519.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_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.1098C>T",
"hgvs_p": "p.Ser366Ser",
"transcript": "ENST00000929517.1",
"protein_id": "ENSP00000599576.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 482,
"cds_start": 1098,
"cds_end": null,
"cds_length": 1449,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929517.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_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.1107C>T",
"hgvs_p": "p.Ser369Ser",
"transcript": "ENST00000893178.1",
"protein_id": "ENSP00000563237.1",
"transcript_support_level": null,
"aa_start": 369,
"aa_end": null,
"aa_length": 462,
"cds_start": 1107,
"cds_end": null,
"cds_length": 1389,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893178.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_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.1104C>T",
"hgvs_p": "p.Ser368Ser",
"transcript": "ENST00000893177.1",
"protein_id": "ENSP00000563236.1",
"transcript_support_level": null,
"aa_start": 368,
"aa_end": null,
"aa_length": 461,
"cds_start": 1104,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893177.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_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.1104C>T",
"hgvs_p": "p.Ser368Ser",
"transcript": "NM_001178133.2",
"protein_id": "NP_001171604.1",
"transcript_support_level": null,
"aa_start": 368,
"aa_end": null,
"aa_length": 433,
"cds_start": 1104,
"cds_end": null,
"cds_length": 1302,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001178133.2"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_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.1107C>T",
"hgvs_p": "p.Ser369Ser",
"transcript": "XM_011539858.4",
"protein_id": "XP_011538160.1",
"transcript_support_level": null,
"aa_start": 369,
"aa_end": null,
"aa_length": 527,
"cds_start": 1107,
"cds_end": null,
"cds_length": 1584,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011539858.4"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_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.1107C>T",
"hgvs_p": "p.Ser369Ser",
"transcript": "XM_047425335.1",
"protein_id": "XP_047281291.1",
"transcript_support_level": null,
"aa_start": 369,
"aa_end": null,
"aa_length": 527,
"cds_start": 1107,
"cds_end": null,
"cds_length": 1584,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425335.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_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.1104C>T",
"hgvs_p": "p.Ser368Ser",
"transcript": "XM_011539860.4",
"protein_id": "XP_011538162.1",
"transcript_support_level": null,
"aa_start": 368,
"aa_end": null,
"aa_length": 526,
"cds_start": 1104,
"cds_end": null,
"cds_length": 1581,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011539860.4"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_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.1029C>T",
"hgvs_p": "p.Ser343Ser",
"transcript": "XM_047425336.1",
"protein_id": "XP_047281292.1",
"transcript_support_level": null,
"aa_start": 343,
"aa_end": null,
"aa_length": 501,
"cds_start": 1029,
"cds_end": null,
"cds_length": 1506,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425336.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_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.1107C>T",
"hgvs_p": "p.Ser369Ser",
"transcript": "XM_011539861.4",
"protein_id": "XP_011538163.1",
"transcript_support_level": null,
"aa_start": 369,
"aa_end": null,
"aa_length": 485,
"cds_start": 1107,
"cds_end": null,
"cds_length": 1458,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011539861.4"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_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.933C>T",
"hgvs_p": "p.Ser311Ser",
"transcript": "XM_011539863.4",
"protein_id": "XP_011538165.1",
"transcript_support_level": null,
"aa_start": 311,
"aa_end": null,
"aa_length": 469,
"cds_start": 933,
"cds_end": null,
"cds_length": 1410,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011539863.4"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_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.1029C>T",
"hgvs_p": "p.Ser343Ser",
"transcript": "XM_047425337.1",
"protein_id": "XP_047281293.1",
"transcript_support_level": null,
"aa_start": 343,
"aa_end": null,
"aa_length": 459,
"cds_start": 1029,
"cds_end": null,
"cds_length": 1380,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425337.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_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.1026C>T",
"hgvs_p": "p.Ser342Ser",
"transcript": "XM_047425338.1",
"protein_id": "XP_047281294.1",
"transcript_support_level": null,
"aa_start": 342,
"aa_end": null,
"aa_length": 458,
"cds_start": 1026,
"cds_end": null,
"cds_length": 1377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425338.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_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.891C>T",
"hgvs_p": "p.Ser297Ser",
"transcript": "XM_047425339.1",
"protein_id": "XP_047281295.1",
"transcript_support_level": null,
"aa_start": 297,
"aa_end": null,
"aa_length": 455,
"cds_start": 891,
"cds_end": null,
"cds_length": 1368,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425339.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_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.1107C>T",
"hgvs_p": "p.Ser369Ser",
"transcript": "XM_011539864.3",
"protein_id": "XP_011538166.1",
"transcript_support_level": null,
"aa_start": 369,
"aa_end": null,
"aa_length": 434,
"cds_start": 1107,
"cds_end": null,
"cds_length": 1305,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011539864.3"
}
],
"gene_symbol": "SUFU",
"gene_hgnc_id": 16466,
"dbsnp": "rs746580970",
"frequency_reference_population": 0.0000043370237,
"hom_count_reference_population": 0,
"allele_count_reference_population": 7,
"gnomad_exomes_af": 0.00000342028,
"gnomad_genomes_af": 0.0000131458,
"gnomad_exomes_ac": 5,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.5299999713897705,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.53,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -2.707,
"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": -13,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7",
"acmg_by_gene": [
{
"score": -13,
"benign_score": 13,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7"
],
"verdict": "Benign",
"transcript": "NM_016169.4",
"gene_symbol": "SUFU",
"hgnc_id": 16466,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.1104C>T",
"hgvs_p": "p.Ser368Ser"
}
],
"clinvar_disease": "Gorlin syndrome,Hereditary cancer-predisposing syndrome,Medulloblastoma",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2",
"phenotype_combined": "Gorlin syndrome;Medulloblastoma|Hereditary cancer-predisposing syndrome",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}