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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: 10-102615273-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=102615273&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "SUFU",
"hgnc_id": 16466,
"hgvs_c": "c.1028G>C",
"hgvs_p": "p.Arg343Pro",
"inheritance_mode": "AD,AR",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_016169.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_score": 2,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.8018,
"alt": "C",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.24,
"chr": "10",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "Gorlin syndrome,Medulloblastoma",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.6946717500686646,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 484,
"aa_ref": "R",
"aa_start": 343,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5016,
"cdna_start": 1209,
"cds_end": null,
"cds_length": 1455,
"cds_start": 1028,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_016169.4",
"gene_hgnc_id": 16466,
"gene_symbol": "SUFU",
"hgvs_c": "c.1028G>C",
"hgvs_p": "p.Arg343Pro",
"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": "P",
"aa_end": null,
"aa_length": 484,
"aa_ref": "R",
"aa_start": 343,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5016,
"cdna_start": 1209,
"cds_end": null,
"cds_length": 1455,
"cds_start": 1028,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000369902.8",
"gene_hgnc_id": 16466,
"gene_symbol": "SUFU",
"hgvs_c": "c.1028G>C",
"hgvs_p": "p.Arg343Pro",
"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": "P",
"aa_end": null,
"aa_length": 481,
"aa_ref": "R",
"aa_start": 343,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2601,
"cdna_start": 1102,
"cds_end": null,
"cds_length": 1446,
"cds_start": 1028,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000423559.2",
"gene_hgnc_id": 16466,
"gene_symbol": "SUFU",
"hgvs_c": "c.1028G>C",
"hgvs_p": "p.Arg343Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000411597.2",
"strand": true,
"transcript": "ENST00000423559.2",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 433,
"aa_ref": "R",
"aa_start": 343,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1839,
"cdna_start": 1174,
"cds_end": null,
"cds_length": 1302,
"cds_start": 1028,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000369899.6",
"gene_hgnc_id": 16466,
"gene_symbol": "SUFU",
"hgvs_c": "c.1028G>C",
"hgvs_p": "p.Arg343Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000358915.2",
"strand": true,
"transcript": "ENST00000369899.6",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 527,
"aa_ref": "R",
"aa_start": 344,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5037,
"cdna_start": 1184,
"cds_end": null,
"cds_length": 1584,
"cds_start": 1031,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000929518.1",
"gene_hgnc_id": 16466,
"gene_symbol": "SUFU",
"hgvs_c": "c.1031G>C",
"hgvs_p": "p.Arg344Pro",
"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": "P",
"aa_end": null,
"aa_length": 526,
"aa_ref": "R",
"aa_start": 343,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5063,
"cdna_start": 1209,
"cds_end": null,
"cds_length": 1581,
"cds_start": 1028,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000893176.1",
"gene_hgnc_id": 16466,
"gene_symbol": "SUFU",
"hgvs_c": "c.1028G>C",
"hgvs_p": "p.Arg343Pro",
"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": "P",
"aa_end": null,
"aa_length": 485,
"aa_ref": "R",
"aa_start": 344,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4958,
"cdna_start": 1227,
"cds_end": null,
"cds_length": 1458,
"cds_start": 1031,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000893175.1",
"gene_hgnc_id": 16466,
"gene_symbol": "SUFU",
"hgvs_c": "c.1031G>C",
"hgvs_p": "p.Arg344Pro",
"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": "P",
"aa_end": null,
"aa_length": 483,
"aa_ref": "R",
"aa_start": 342,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2230,
"cdna_start": 1206,
"cds_end": null,
"cds_length": 1452,
"cds_start": 1025,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000929519.1",
"gene_hgnc_id": 16466,
"gene_symbol": "SUFU",
"hgvs_c": "c.1025G>C",
"hgvs_p": "p.Arg342Pro",
"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": "P",
"aa_end": null,
"aa_length": 482,
"aa_ref": "R",
"aa_start": 341,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4946,
"cdna_start": 1223,
"cds_end": null,
"cds_length": 1449,
"cds_start": 1022,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000929517.1",
"gene_hgnc_id": 16466,
"gene_symbol": "SUFU",
"hgvs_c": "c.1022G>C",
"hgvs_p": "p.Arg341Pro",
"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": "P",
"aa_end": null,
"aa_length": 462,
"aa_ref": "R",
"aa_start": 344,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4838,
"cdna_start": 1181,
"cds_end": null,
"cds_length": 1389,
"cds_start": 1031,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000893178.1",
"gene_hgnc_id": 16466,
"gene_symbol": "SUFU",
"hgvs_c": "c.1031G>C",
"hgvs_p": "p.Arg344Pro",
"intron_rank": null,
"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": "P",
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"aa_length": 461,
"aa_ref": "R",
"aa_start": 343,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4866,
"cdna_start": 1209,
"cds_end": null,
"cds_length": 1386,
"cds_start": 1028,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000893177.1",
"gene_hgnc_id": 16466,
"gene_symbol": "SUFU",
"hgvs_c": "c.1028G>C",
"hgvs_p": "p.Arg343Pro",
"intron_rank": null,
"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
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 433,
"aa_ref": "R",
"aa_start": 343,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1880,
"cdna_start": 1209,
"cds_end": null,
"cds_length": 1302,
"cds_start": 1028,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001178133.2",
"gene_hgnc_id": 16466,
"gene_symbol": "SUFU",
"hgvs_c": "c.1028G>C",
"hgvs_p": "p.Arg343Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001171604.1",
"strand": true,
"transcript": "NM_001178133.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
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"aa_length": 527,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5145,
"cdna_start": 1212,
"cds_end": null,
"cds_length": 1584,
"cds_start": 1031,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "XM_011539858.4",
"gene_hgnc_id": 16466,
"gene_symbol": "SUFU",
"hgvs_c": "c.1031G>C",
"hgvs_p": "p.Arg344Pro",
"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": "P",
"aa_end": null,
"aa_length": 527,
"aa_ref": "R",
"aa_start": 344,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5161,
"cdna_start": 1228,
"cds_end": null,
"cds_length": 1584,
"cds_start": 1031,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "XM_047425335.1",
"gene_hgnc_id": 16466,
"gene_symbol": "SUFU",
"hgvs_c": "c.1031G>C",
"hgvs_p": "p.Arg344Pro",
"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": "P",
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"aa_length": 526,
"aa_ref": "R",
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"biotype": "protein_coding",
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"cdna_end": null,
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"cdna_start": 1209,
"cds_end": null,
"cds_length": 1581,
"cds_start": 1028,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "XM_011539860.4",
"gene_hgnc_id": 16466,
"gene_symbol": "SUFU",
"hgvs_c": "c.1028G>C",
"hgvs_p": "p.Arg343Pro",
"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": "P",
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"aa_length": 501,
"aa_ref": "R",
"aa_start": 318,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5282,
"cdna_start": 1349,
"cds_end": null,
"cds_length": 1506,
"cds_start": 953,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "XM_047425336.1",
"gene_hgnc_id": 16466,
"gene_symbol": "SUFU",
"hgvs_c": "c.953G>C",
"hgvs_p": "p.Arg318Pro",
"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": "P",
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"aa_length": 485,
"aa_ref": "R",
"aa_start": 344,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5019,
"cdna_start": 1212,
"cds_end": null,
"cds_length": 1458,
"cds_start": 1031,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "XM_011539861.4",
"gene_hgnc_id": 16466,
"gene_symbol": "SUFU",
"hgvs_c": "c.1031G>C",
"hgvs_p": "p.Arg344Pro",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_011538163.1",
"strand": true,
"transcript": "XM_011539861.4",
"transcript_support_level": null
},
{
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"aa_ref": "R",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 4950,
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"cds_end": null,
"cds_length": 1410,
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"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "XM_011539863.4",
"gene_hgnc_id": 16466,
"gene_symbol": "SUFU",
"hgvs_c": "c.857G>C",
"hgvs_p": "p.Arg286Pro",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_011538165.1",
"strand": true,
"transcript": "XM_011539863.4",
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},
{
"aa_alt": "P",
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"aa_ref": "R",
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"biotype": "protein_coding",
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"cdna_start": 1349,
"cds_end": null,
"cds_length": 1380,
"cds_start": 953,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "XM_047425337.1",
"gene_hgnc_id": 16466,
"gene_symbol": "SUFU",
"hgvs_c": "c.953G>C",
"hgvs_p": "p.Arg318Pro",
"intron_rank": null,
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"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": "P",
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"aa_length": 458,
"aa_ref": "R",
"aa_start": 317,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5153,
"cdna_start": 1346,
"cds_end": null,
"cds_length": 1377,
"cds_start": 950,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "XM_047425338.1",
"gene_hgnc_id": 16466,
"gene_symbol": "SUFU",
"hgvs_c": "c.950G>C",
"hgvs_p": "p.Arg317Pro",
"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": "P",
"aa_end": null,
"aa_length": 455,
"aa_ref": "R",
"aa_start": 272,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5410,
"cdna_start": 1477,
"cds_end": null,
"cds_length": 1368,
"cds_start": 815,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "XM_047425339.1",
"gene_hgnc_id": 16466,
"gene_symbol": "SUFU",
"hgvs_c": "c.815G>C",
"hgvs_p": "p.Arg272Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
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{
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],
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}
]
}