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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: 10-102597263-GGC-TCG (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=102597263&ref=GGC&alt=TCG&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "SUFU",
"hgnc_id": 16466,
"hgvs_c": "c.880_882delGGCinsTCG",
"hgvs_p": "p.Gly294Ser",
"inheritance_mode": "AD,AR",
"pathogenic_score": 1,
"score": 1,
"transcript": "NM_016169.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3",
"acmg_score": 1,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "TCG",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "10",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 484,
"aa_ref": "G",
"aa_start": 294,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5016,
"cdna_start": 1061,
"cds_end": null,
"cds_length": 1455,
"cds_start": 880,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_016169.4",
"gene_hgnc_id": 16466,
"gene_symbol": "SUFU",
"hgvs_c": "c.880_882delGGCinsTCG",
"hgvs_p": "p.Gly294Ser",
"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": "S",
"aa_end": null,
"aa_length": 484,
"aa_ref": "G",
"aa_start": 294,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5016,
"cdna_start": 1061,
"cds_end": null,
"cds_length": 1455,
"cds_start": 880,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000369902.8",
"gene_hgnc_id": 16466,
"gene_symbol": "SUFU",
"hgvs_c": "c.880_882delGGCinsTCG",
"hgvs_p": "p.Gly294Ser",
"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": "S",
"aa_end": null,
"aa_length": 481,
"aa_ref": "G",
"aa_start": 294,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2601,
"cdna_start": 954,
"cds_end": null,
"cds_length": 1446,
"cds_start": 880,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000423559.2",
"gene_hgnc_id": 16466,
"gene_symbol": "SUFU",
"hgvs_c": "c.880_882delGGCinsTCG",
"hgvs_p": "p.Gly294Ser",
"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": "S",
"aa_end": null,
"aa_length": 433,
"aa_ref": "G",
"aa_start": 294,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1839,
"cdna_start": 1026,
"cds_end": null,
"cds_length": 1302,
"cds_start": 880,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000369899.6",
"gene_hgnc_id": 16466,
"gene_symbol": "SUFU",
"hgvs_c": "c.880_882delGGCinsTCG",
"hgvs_p": "p.Gly294Ser",
"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": "S",
"aa_end": null,
"aa_length": 527,
"aa_ref": "G",
"aa_start": 295,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5037,
"cdna_start": 1036,
"cds_end": null,
"cds_length": 1584,
"cds_start": 883,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000929518.1",
"gene_hgnc_id": 16466,
"gene_symbol": "SUFU",
"hgvs_c": "c.883_885delGGCinsTCG",
"hgvs_p": "p.Gly295Ser",
"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": "S",
"aa_end": null,
"aa_length": 526,
"aa_ref": "G",
"aa_start": 294,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5063,
"cdna_start": 1061,
"cds_end": null,
"cds_length": 1581,
"cds_start": 880,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000893176.1",
"gene_hgnc_id": 16466,
"gene_symbol": "SUFU",
"hgvs_c": "c.880_882delGGCinsTCG",
"hgvs_p": "p.Gly294Ser",
"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": "S",
"aa_end": null,
"aa_length": 485,
"aa_ref": "G",
"aa_start": 295,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4958,
"cdna_start": 1079,
"cds_end": null,
"cds_length": 1458,
"cds_start": 883,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000893175.1",
"gene_hgnc_id": 16466,
"gene_symbol": "SUFU",
"hgvs_c": "c.883_885delGGCinsTCG",
"hgvs_p": "p.Gly295Ser",
"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": "S",
"aa_end": null,
"aa_length": 483,
"aa_ref": "G",
"aa_start": 295,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2230,
"cdna_start": 1064,
"cds_end": null,
"cds_length": 1452,
"cds_start": 883,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000929519.1",
"gene_hgnc_id": 16466,
"gene_symbol": "SUFU",
"hgvs_c": "c.883_885delGGCinsTCG",
"hgvs_p": "p.Gly295Ser",
"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": "S",
"aa_end": null,
"aa_length": 482,
"aa_ref": "G",
"aa_start": 294,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4946,
"cdna_start": 1081,
"cds_end": null,
"cds_length": 1449,
"cds_start": 880,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000929517.1",
"gene_hgnc_id": 16466,
"gene_symbol": "SUFU",
"hgvs_c": "c.880_882delGGCinsTCG",
"hgvs_p": "p.Gly294Ser",
"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": "S",
"aa_end": null,
"aa_length": 462,
"aa_ref": "G",
"aa_start": 295,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4838,
"cdna_start": 1033,
"cds_end": null,
"cds_length": 1389,
"cds_start": 883,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000893178.1",
"gene_hgnc_id": 16466,
"gene_symbol": "SUFU",
"hgvs_c": "c.883_885delGGCinsTCG",
"hgvs_p": "p.Gly295Ser",
"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": "S",
"aa_end": null,
"aa_length": 461,
"aa_ref": "G",
"aa_start": 294,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4866,
"cdna_start": 1061,
"cds_end": null,
"cds_length": 1386,
"cds_start": 880,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000893177.1",
"gene_hgnc_id": 16466,
"gene_symbol": "SUFU",
"hgvs_c": "c.880_882delGGCinsTCG",
"hgvs_p": "p.Gly294Ser",
"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": "S",
"aa_end": null,
"aa_length": 433,
"aa_ref": "G",
"aa_start": 294,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1880,
"cdna_start": 1061,
"cds_end": null,
"cds_length": 1302,
"cds_start": 880,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001178133.2",
"gene_hgnc_id": 16466,
"gene_symbol": "SUFU",
"hgvs_c": "c.880_882delGGCinsTCG",
"hgvs_p": "p.Gly294Ser",
"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": "S",
"aa_end": null,
"aa_length": 527,
"aa_ref": "G",
"aa_start": 295,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5145,
"cdna_start": 1064,
"cds_end": null,
"cds_length": 1584,
"cds_start": 883,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011539858.4",
"gene_hgnc_id": 16466,
"gene_symbol": "SUFU",
"hgvs_c": "c.883_885delGGCinsTCG",
"hgvs_p": "p.Gly295Ser",
"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": "S",
"aa_end": null,
"aa_length": 527,
"aa_ref": "G",
"aa_start": 295,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5161,
"cdna_start": 1080,
"cds_end": null,
"cds_length": 1584,
"cds_start": 883,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047425335.1",
"gene_hgnc_id": 16466,
"gene_symbol": "SUFU",
"hgvs_c": "c.883_885delGGCinsTCG",
"hgvs_p": "p.Gly295Ser",
"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": "S",
"aa_end": null,
"aa_length": 526,
"aa_ref": "G",
"aa_start": 294,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5142,
"cdna_start": 1061,
"cds_end": null,
"cds_length": 1581,
"cds_start": 880,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011539860.4",
"gene_hgnc_id": 16466,
"gene_symbol": "SUFU",
"hgvs_c": "c.880_882delGGCinsTCG",
"hgvs_p": "p.Gly294Ser",
"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": "S",
"aa_end": null,
"aa_length": 501,
"aa_ref": "G",
"aa_start": 269,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5282,
"cdna_start": 1201,
"cds_end": null,
"cds_length": 1506,
"cds_start": 805,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047425336.1",
"gene_hgnc_id": 16466,
"gene_symbol": "SUFU",
"hgvs_c": "c.805_807delGGCinsTCG",
"hgvs_p": "p.Gly269Ser",
"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": "S",
"aa_end": null,
"aa_length": 485,
"aa_ref": "G",
"aa_start": 295,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5019,
"cdna_start": 1064,
"cds_end": null,
"cds_length": 1458,
"cds_start": 883,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011539861.4",
"gene_hgnc_id": 16466,
"gene_symbol": "SUFU",
"hgvs_c": "c.883_885delGGCinsTCG",
"hgvs_p": "p.Gly295Ser",
"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": "S",
"aa_end": null,
"aa_length": 469,
"aa_ref": "G",
"aa_start": 237,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4950,
"cdna_start": 869,
"cds_end": null,
"cds_length": 1410,
"cds_start": 709,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011539863.4",
"gene_hgnc_id": 16466,
"gene_symbol": "SUFU",
"hgvs_c": "c.709_711delGGCinsTCG",
"hgvs_p": "p.Gly237Ser",
"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": "S",
"aa_end": null,
"aa_length": 459,
"aa_ref": "G",
"aa_start": 269,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5156,
"cdna_start": 1201,
"cds_end": null,
"cds_length": 1380,
"cds_start": 805,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047425337.1",
"gene_hgnc_id": 16466,
"gene_symbol": "SUFU",
"hgvs_c": "c.805_807delGGCinsTCG",
"hgvs_p": "p.Gly269Ser",
"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": "S",
"aa_end": null,
"aa_length": 458,
"aa_ref": "G",
"aa_start": 268,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5153,
"cdna_start": 1198,
"cds_end": null,
"cds_length": 1377,
"cds_start": 802,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047425338.1",
"gene_hgnc_id": 16466,
"gene_symbol": "SUFU",
"hgvs_c": "c.802_804delGGCinsTCG",
"hgvs_p": "p.Gly268Ser",
"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": "S",
"aa_end": null,
"aa_length": 455,
"aa_ref": "G",
"aa_start": 223,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5410,
"cdna_start": 1329,
"cds_end": null,
"cds_length": 1368,
"cds_start": 667,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047425339.1",
"gene_hgnc_id": 16466,
"gene_symbol": "SUFU",
"hgvs_c": "c.667_669delGGCinsTCG",
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