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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: 10-35010357-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=35010357&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 35010357,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000374749.8",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL2",
"gene_hgnc_id": 2552,
"hgvs_c": "c.2192T>C",
"hgvs_p": "p.Ile731Thr",
"transcript": "NM_003591.4",
"protein_id": "NP_003582.2",
"transcript_support_level": null,
"aa_start": 731,
"aa_end": null,
"aa_length": 745,
"cds_start": 2192,
"cds_end": null,
"cds_length": 2238,
"cdna_start": 2377,
"cdna_end": null,
"cdna_length": 4183,
"mane_select": "ENST00000374749.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL2",
"gene_hgnc_id": 2552,
"hgvs_c": "c.2192T>C",
"hgvs_p": "p.Ile731Thr",
"transcript": "ENST00000374749.8",
"protein_id": "ENSP00000363881.3",
"transcript_support_level": 1,
"aa_start": 731,
"aa_end": null,
"aa_length": 745,
"cds_start": 2192,
"cds_end": null,
"cds_length": 2238,
"cdna_start": 2377,
"cdna_end": null,
"cdna_length": 4183,
"mane_select": "NM_003591.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL2",
"gene_hgnc_id": 2552,
"hgvs_c": "c.2192T>C",
"hgvs_p": "p.Ile731Thr",
"transcript": "ENST00000374751.7",
"protein_id": "ENSP00000363883.3",
"transcript_support_level": 1,
"aa_start": 731,
"aa_end": null,
"aa_length": 745,
"cds_start": 2192,
"cds_end": null,
"cds_length": 2238,
"cdna_start": 2427,
"cdna_end": null,
"cdna_length": 4233,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL2",
"gene_hgnc_id": 2552,
"hgvs_c": "c.2249T>C",
"hgvs_p": "p.Ile750Thr",
"transcript": "NM_001198778.2",
"protein_id": "NP_001185707.1",
"transcript_support_level": null,
"aa_start": 750,
"aa_end": null,
"aa_length": 764,
"cds_start": 2249,
"cds_end": null,
"cds_length": 2295,
"cdna_start": 2306,
"cdna_end": null,
"cdna_length": 4112,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL2",
"gene_hgnc_id": 2552,
"hgvs_c": "c.2249T>C",
"hgvs_p": "p.Ile750Thr",
"transcript": "ENST00000421317.5",
"protein_id": "ENSP00000414095.2",
"transcript_support_level": 2,
"aa_start": 750,
"aa_end": null,
"aa_length": 764,
"cds_start": 2249,
"cds_end": null,
"cds_length": 2295,
"cdna_start": 2353,
"cdna_end": null,
"cdna_length": 2646,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL2",
"gene_hgnc_id": 2552,
"hgvs_c": "c.2231T>C",
"hgvs_p": "p.Ile744Thr",
"transcript": "NM_001198779.1",
"protein_id": "NP_001185708.1",
"transcript_support_level": null,
"aa_start": 744,
"aa_end": null,
"aa_length": 758,
"cds_start": 2231,
"cds_end": null,
"cds_length": 2277,
"cdna_start": 2466,
"cdna_end": null,
"cdna_length": 4272,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL2",
"gene_hgnc_id": 2552,
"hgvs_c": "c.2231T>C",
"hgvs_p": "p.Ile744Thr",
"transcript": "ENST00000537177.6",
"protein_id": "ENSP00000444856.2",
"transcript_support_level": 5,
"aa_start": 744,
"aa_end": null,
"aa_length": 758,
"cds_start": 2231,
"cds_end": null,
"cds_length": 2277,
"cdna_start": 2417,
"cdna_end": null,
"cdna_length": 4223,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL2",
"gene_hgnc_id": 2552,
"hgvs_c": "c.2231T>C",
"hgvs_p": "p.Ile744Thr",
"transcript": "ENST00000688571.1",
"protein_id": "ENSP00000509574.1",
"transcript_support_level": null,
"aa_start": 744,
"aa_end": null,
"aa_length": 758,
"cds_start": 2231,
"cds_end": null,
"cds_length": 2277,
"cdna_start": 2522,
"cdna_end": null,
"cdna_length": 3026,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL2",
"gene_hgnc_id": 2552,
"hgvs_c": "c.2216T>C",
"hgvs_p": "p.Ile739Thr",
"transcript": "ENST00000687524.1",
"protein_id": "ENSP00000510171.1",
"transcript_support_level": null,
"aa_start": 739,
"aa_end": null,
"aa_length": 753,
"cds_start": 2216,
"cds_end": null,
"cds_length": 2262,
"cdna_start": 2400,
"cdna_end": null,
"cdna_length": 2738,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL2",
"gene_hgnc_id": 2552,
"hgvs_c": "c.2192T>C",
"hgvs_p": "p.Ile731Thr",
"transcript": "NM_001198777.2",
"protein_id": "NP_001185706.1",
"transcript_support_level": null,
"aa_start": 731,
"aa_end": null,
"aa_length": 745,
"cds_start": 2192,
"cds_end": null,
"cds_length": 2238,
"cdna_start": 2399,
"cdna_end": null,
"cdna_length": 4205,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL2",
"gene_hgnc_id": 2552,
"hgvs_c": "c.2192T>C",
"hgvs_p": "p.Ile731Thr",
"transcript": "ENST00000374748.5",
"protein_id": "ENSP00000363880.1",
"transcript_support_level": 5,
"aa_start": 731,
"aa_end": null,
"aa_length": 745,
"cds_start": 2192,
"cds_end": null,
"cds_length": 2238,
"cdna_start": 2506,
"cdna_end": null,
"cdna_length": 4312,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL2",
"gene_hgnc_id": 2552,
"hgvs_c": "c.2192T>C",
"hgvs_p": "p.Ile731Thr",
"transcript": "ENST00000673636.2",
"protein_id": "ENSP00000501215.1",
"transcript_support_level": null,
"aa_start": 731,
"aa_end": null,
"aa_length": 745,
"cds_start": 2192,
"cds_end": null,
"cds_length": 2238,
"cdna_start": 2501,
"cdna_end": null,
"cdna_length": 2839,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL2",
"gene_hgnc_id": 2552,
"hgvs_c": "c.2192T>C",
"hgvs_p": "p.Ile731Thr",
"transcript": "ENST00000690393.1",
"protein_id": "ENSP00000510691.1",
"transcript_support_level": null,
"aa_start": 731,
"aa_end": null,
"aa_length": 745,
"cds_start": 2192,
"cds_end": null,
"cds_length": 2238,
"cdna_start": 2443,
"cdna_end": null,
"cdna_length": 2934,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL2",
"gene_hgnc_id": 2552,
"hgvs_c": "c.2192T>C",
"hgvs_p": "p.Ile731Thr",
"transcript": "ENST00000691974.1",
"protein_id": "ENSP00000508908.1",
"transcript_support_level": null,
"aa_start": 731,
"aa_end": null,
"aa_length": 745,
"cds_start": 2192,
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"cds_length": 2238,
"cdna_start": 2682,
"cdna_end": null,
"cdna_length": 3187,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL2",
"gene_hgnc_id": 2552,
"hgvs_c": "c.2183T>C",
"hgvs_p": "p.Ile728Thr",
"transcript": "ENST00000691263.1",
"protein_id": "ENSP00000510240.1",
"transcript_support_level": null,
"aa_start": 728,
"aa_end": null,
"aa_length": 742,
"cds_start": 2183,
"cds_end": null,
"cds_length": 2229,
"cdna_start": 2371,
"cdna_end": null,
"cdna_length": 2717,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL2",
"gene_hgnc_id": 2552,
"hgvs_c": "c.2105T>C",
"hgvs_p": "p.Ile702Thr",
"transcript": "ENST00000691201.1",
"protein_id": "ENSP00000509778.1",
"transcript_support_level": null,
"aa_start": 702,
"aa_end": null,
"aa_length": 716,
"cds_start": 2105,
"cds_end": null,
"cds_length": 2151,
"cdna_start": 2301,
"cdna_end": null,
"cdna_length": 2663,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL2",
"gene_hgnc_id": 2552,
"hgvs_c": "c.2090T>C",
"hgvs_p": "p.Ile697Thr",
"transcript": "ENST00000690092.1",
"protein_id": "ENSP00000508675.1",
"transcript_support_level": null,
"aa_start": 697,
"aa_end": null,
"aa_length": 711,
"cds_start": 2090,
"cds_end": null,
"cds_length": 2136,
"cdna_start": 2112,
"cdna_end": null,
"cdna_length": 2599,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL2",
"gene_hgnc_id": 2552,
"hgvs_c": "c.2075T>C",
"hgvs_p": "p.Ile692Thr",
"transcript": "ENST00000626172.3",
"protein_id": "ENSP00000485986.1",
"transcript_support_level": 5,
"aa_start": 692,
"aa_end": null,
"aa_length": 706,
"cds_start": 2075,
"cds_end": null,
"cds_length": 2121,
"cdna_start": 2263,
"cdna_end": null,
"cdna_length": 4116,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL2",
"gene_hgnc_id": 2552,
"hgvs_c": "c.2039T>C",
"hgvs_p": "p.Ile680Thr",
"transcript": "ENST00000374746.6",
"protein_id": "ENSP00000363878.2",
"transcript_support_level": 5,
"aa_start": 680,
"aa_end": null,
"aa_length": 694,
"cds_start": 2039,
"cds_end": null,
"cds_length": 2085,
"cdna_start": 2061,
"cdna_end": null,
"cdna_length": 3867,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL2",
"gene_hgnc_id": 2552,
"hgvs_c": "c.2003T>C",
"hgvs_p": "p.Ile668Thr",
"transcript": "NM_001324375.2",
"protein_id": "NP_001311304.1",
"transcript_support_level": null,
"aa_start": 668,
"aa_end": null,
"aa_length": 682,
"cds_start": 2003,
"cds_end": null,
"cds_length": 2049,
"cdna_start": 2188,
"cdna_end": null,
"cdna_length": 3994,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL2",
"gene_hgnc_id": 2552,
"hgvs_c": "c.2003T>C",
"hgvs_p": "p.Ile668Thr",
"transcript": "ENST00000690123.1",
"protein_id": "ENSP00000508924.1",
"transcript_support_level": null,
"aa_start": 668,
"aa_end": null,
"aa_length": 682,
"cds_start": 2003,
"cds_end": null,
"cds_length": 2049,
"cdna_start": 2178,
"cdna_end": null,
"cdna_length": 3984,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL2",
"gene_hgnc_id": 2552,
"hgvs_c": "c.1799T>C",
"hgvs_p": "p.Ile600Thr",
"transcript": "NM_001324376.2",
"protein_id": "NP_001311305.1",
"transcript_support_level": null,
"aa_start": 600,
"aa_end": null,
"aa_length": 614,
"cds_start": 1799,
"cds_end": null,
"cds_length": 1845,
"cdna_start": 2540,
"cdna_end": null,
"cdna_length": 4346,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
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}
],
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"dbsnp": "rs2084869461",
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"allele_count_reference_population": 0,
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"computational_score_selected": 0.9592697024345398,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.03999999910593033,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"revel_prediction": "Pathogenic",
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"bayesdelnoaf_score": 0.35,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.315,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.04,
"spliceai_max_prediction": "Benign",
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"acmg_score": 7,
"acmg_classification": "Likely_pathogenic",
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"acmg_by_gene": [
{
"score": 7,
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"criteria": [
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"PP3_Strong",
"PP5"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000374749.8",
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"effects": [
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],
"inheritance_mode": "AD",
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{
"score": 7,
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"PP3_Strong",
"PP5"
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"verdict": "Likely_pathogenic",
"transcript": "ENST00000775934.1",
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"inheritance_mode": "",
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}
],
"clinvar_disease": "Moyamoya angiopathy",
"clinvar_classification": "Likely pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Moyamoya angiopathy",
"pathogenicity_classification_combined": "Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}