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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: 10-102630079-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=102630079&ref=A&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.1379A>C",
"hgvs_p": "p.Lys460Thr",
"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": "Uncertain_significance",
"alphamissense_score": 0.3721,
"alt": "C",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.26,
"chr": "10",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "Hereditary cancer-predisposing syndrome",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.4332059323787689,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 484,
"aa_ref": "K",
"aa_start": 460,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5016,
"cdna_start": 1560,
"cds_end": null,
"cds_length": 1455,
"cds_start": 1379,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_016169.4",
"gene_hgnc_id": 16466,
"gene_symbol": "SUFU",
"hgvs_c": "c.1379A>C",
"hgvs_p": "p.Lys460Thr",
"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": "T",
"aa_end": null,
"aa_length": 484,
"aa_ref": "K",
"aa_start": 460,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5016,
"cdna_start": 1560,
"cds_end": null,
"cds_length": 1455,
"cds_start": 1379,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000369902.8",
"gene_hgnc_id": 16466,
"gene_symbol": "SUFU",
"hgvs_c": "c.1379A>C",
"hgvs_p": "p.Lys460Thr",
"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": "T",
"aa_end": null,
"aa_length": 527,
"aa_ref": "K",
"aa_start": 503,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5037,
"cdna_start": 1661,
"cds_end": null,
"cds_length": 1584,
"cds_start": 1508,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000929518.1",
"gene_hgnc_id": 16466,
"gene_symbol": "SUFU",
"hgvs_c": "c.1508A>C",
"hgvs_p": "p.Lys503Thr",
"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": "T",
"aa_end": null,
"aa_length": 526,
"aa_ref": "K",
"aa_start": 502,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5063,
"cdna_start": 1686,
"cds_end": null,
"cds_length": 1581,
"cds_start": 1505,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000893176.1",
"gene_hgnc_id": 16466,
"gene_symbol": "SUFU",
"hgvs_c": "c.1505A>C",
"hgvs_p": "p.Lys502Thr",
"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": "T",
"aa_end": null,
"aa_length": 485,
"aa_ref": "K",
"aa_start": 461,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4958,
"cdna_start": 1578,
"cds_end": null,
"cds_length": 1458,
"cds_start": 1382,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000893175.1",
"gene_hgnc_id": 16466,
"gene_symbol": "SUFU",
"hgvs_c": "c.1382A>C",
"hgvs_p": "p.Lys461Thr",
"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": "T",
"aa_end": null,
"aa_length": 483,
"aa_ref": "K",
"aa_start": 459,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2230,
"cdna_start": 1557,
"cds_end": null,
"cds_length": 1452,
"cds_start": 1376,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000929519.1",
"gene_hgnc_id": 16466,
"gene_symbol": "SUFU",
"hgvs_c": "c.1376A>C",
"hgvs_p": "p.Lys459Thr",
"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": "T",
"aa_end": null,
"aa_length": 482,
"aa_ref": "K",
"aa_start": 458,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4946,
"cdna_start": 1574,
"cds_end": null,
"cds_length": 1449,
"cds_start": 1373,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000929517.1",
"gene_hgnc_id": 16466,
"gene_symbol": "SUFU",
"hgvs_c": "c.1373A>C",
"hgvs_p": "p.Lys458Thr",
"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": "T",
"aa_end": null,
"aa_length": 462,
"aa_ref": "K",
"aa_start": 438,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4838,
"cdna_start": 1463,
"cds_end": null,
"cds_length": 1389,
"cds_start": 1313,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000893178.1",
"gene_hgnc_id": 16466,
"gene_symbol": "SUFU",
"hgvs_c": "c.1313A>C",
"hgvs_p": "p.Lys438Thr",
"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": "T",
"aa_end": null,
"aa_length": 461,
"aa_ref": "K",
"aa_start": 437,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4866,
"cdna_start": 1491,
"cds_end": null,
"cds_length": 1386,
"cds_start": 1310,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000893177.1",
"gene_hgnc_id": 16466,
"gene_symbol": "SUFU",
"hgvs_c": "c.1310A>C",
"hgvs_p": "p.Lys437Thr",
"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": "T",
"aa_end": null,
"aa_length": 527,
"aa_ref": "K",
"aa_start": 503,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5145,
"cdna_start": 1689,
"cds_end": null,
"cds_length": 1584,
"cds_start": 1508,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "XM_011539858.4",
"gene_hgnc_id": 16466,
"gene_symbol": "SUFU",
"hgvs_c": "c.1508A>C",
"hgvs_p": "p.Lys503Thr",
"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": "T",
"aa_end": null,
"aa_length": 527,
"aa_ref": "K",
"aa_start": 503,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5161,
"cdna_start": 1705,
"cds_end": null,
"cds_length": 1584,
"cds_start": 1508,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "XM_047425335.1",
"gene_hgnc_id": 16466,
"gene_symbol": "SUFU",
"hgvs_c": "c.1508A>C",
"hgvs_p": "p.Lys503Thr",
"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": "T",
"aa_end": null,
"aa_length": 526,
"aa_ref": "K",
"aa_start": 502,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5142,
"cdna_start": 1686,
"cds_end": null,
"cds_length": 1581,
"cds_start": 1505,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "XM_011539860.4",
"gene_hgnc_id": 16466,
"gene_symbol": "SUFU",
"hgvs_c": "c.1505A>C",
"hgvs_p": "p.Lys502Thr",
"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": "T",
"aa_end": null,
"aa_length": 501,
"aa_ref": "K",
"aa_start": 477,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5282,
"cdna_start": 1826,
"cds_end": null,
"cds_length": 1506,
"cds_start": 1430,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "XM_047425336.1",
"gene_hgnc_id": 16466,
"gene_symbol": "SUFU",
"hgvs_c": "c.1430A>C",
"hgvs_p": "p.Lys477Thr",
"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": "T",
"aa_end": null,
"aa_length": 485,
"aa_ref": "K",
"aa_start": 461,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5019,
"cdna_start": 1563,
"cds_end": null,
"cds_length": 1458,
"cds_start": 1382,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "XM_011539861.4",
"gene_hgnc_id": 16466,
"gene_symbol": "SUFU",
"hgvs_c": "c.1382A>C",
"hgvs_p": "p.Lys461Thr",
"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": "T",
"aa_end": null,
"aa_length": 469,
"aa_ref": "K",
"aa_start": 445,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4950,
"cdna_start": 1494,
"cds_end": null,
"cds_length": 1410,
"cds_start": 1334,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "XM_011539863.4",
"gene_hgnc_id": 16466,
"gene_symbol": "SUFU",
"hgvs_c": "c.1334A>C",
"hgvs_p": "p.Lys445Thr",
"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": "T",
"aa_end": null,
"aa_length": 459,
"aa_ref": "K",
"aa_start": 435,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5156,
"cdna_start": 1700,
"cds_end": null,
"cds_length": 1380,
"cds_start": 1304,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "XM_047425337.1",
"gene_hgnc_id": 16466,
"gene_symbol": "SUFU",
"hgvs_c": "c.1304A>C",
"hgvs_p": "p.Lys435Thr",
"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": "T",
"aa_end": null,
"aa_length": 458,
"aa_ref": "K",
"aa_start": 434,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5153,
"cdna_start": 1697,
"cds_end": null,
"cds_length": 1377,
"cds_start": 1301,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "XM_047425338.1",
"gene_hgnc_id": 16466,
"gene_symbol": "SUFU",
"hgvs_c": "c.1301A>C",
"hgvs_p": "p.Lys434Thr",
"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": "T",
"aa_end": null,
"aa_length": 455,
"aa_ref": "K",
"aa_start": 431,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5410,
"cdna_start": 1954,
"cds_end": null,
"cds_length": 1368,
"cds_start": 1292,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "XM_047425339.1",
"gene_hgnc_id": 16466,
"gene_symbol": "SUFU",
"hgvs_c": "c.1292A>C",
"hgvs_p": "p.Lys431Thr",
"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
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs778125780",
"effect": "missense_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 16466,
"gene_symbol": "SUFU",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Uncertain significance",
"phenotype_combined": "Hereditary cancer-predisposing syndrome",
"phylop100way_prediction": "Uncertain_significance",
"phylop100way_score": 5.761,
"pos": 102630079,
"ref": "A",
"revel_prediction": "Benign",
"revel_score": 0.207,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.07000000029802322,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0.07,
"transcript": "NM_016169.4"
}
]
}