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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: 14-101893025-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=101893025&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 101893025,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000694906.1",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP2R5C",
"gene_hgnc_id": 9311,
"hgvs_c": "c.880C>G",
"hgvs_p": "p.Leu294Val",
"transcript": "NM_001352913.2",
"protein_id": "NP_001339842.1",
"transcript_support_level": null,
"aa_start": 294,
"aa_end": null,
"aa_length": 579,
"cds_start": 880,
"cds_end": null,
"cds_length": 1740,
"cdna_start": 1065,
"cdna_end": null,
"cdna_length": 4630,
"mane_select": "ENST00000694906.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP2R5C",
"gene_hgnc_id": 9311,
"hgvs_c": "c.880C>G",
"hgvs_p": "p.Leu294Val",
"transcript": "ENST00000694906.1",
"protein_id": "ENSP00000511581.1",
"transcript_support_level": null,
"aa_start": 294,
"aa_end": null,
"aa_length": 579,
"cds_start": 880,
"cds_end": null,
"cds_length": 1740,
"cdna_start": 1065,
"cdna_end": null,
"cdna_length": 4630,
"mane_select": "NM_001352913.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP2R5C",
"gene_hgnc_id": 9311,
"hgvs_c": "c.715C>G",
"hgvs_p": "p.Leu239Val",
"transcript": "ENST00000334743.9",
"protein_id": "ENSP00000333905.4",
"transcript_support_level": 1,
"aa_start": 239,
"aa_end": null,
"aa_length": 524,
"cds_start": 715,
"cds_end": null,
"cds_length": 1575,
"cdna_start": 763,
"cdna_end": null,
"cdna_length": 4328,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP2R5C",
"gene_hgnc_id": 9311,
"hgvs_c": "c.715C>G",
"hgvs_p": "p.Leu239Val",
"transcript": "ENST00000350249.7",
"protein_id": "ENSP00000262239.5",
"transcript_support_level": 1,
"aa_start": 239,
"aa_end": null,
"aa_length": 485,
"cds_start": 715,
"cds_end": null,
"cds_length": 1458,
"cdna_start": 855,
"cdna_end": null,
"cdna_length": 3845,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP2R5C",
"gene_hgnc_id": 9311,
"hgvs_c": "c.715C>G",
"hgvs_p": "p.Leu239Val",
"transcript": "ENST00000445439.7",
"protein_id": "ENSP00000408389.3",
"transcript_support_level": 1,
"aa_start": 239,
"aa_end": null,
"aa_length": 449,
"cds_start": 715,
"cds_end": null,
"cds_length": 1350,
"cdna_start": 763,
"cdna_end": null,
"cdna_length": 1526,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP2R5C",
"gene_hgnc_id": 9311,
"hgvs_c": "c.715C>G",
"hgvs_p": "p.Leu239Val",
"transcript": "ENST00000557095.5",
"protein_id": "ENSP00000451179.1",
"transcript_support_level": 1,
"aa_start": 239,
"aa_end": null,
"aa_length": 384,
"cds_start": 715,
"cds_end": null,
"cds_length": 1155,
"cdna_start": 753,
"cdna_end": null,
"cdna_length": 1307,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP2R5C",
"gene_hgnc_id": 9311,
"hgvs_c": "n.377C>G",
"hgvs_p": null,
"transcript": "ENST00000556218.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 987,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP2R5C",
"gene_hgnc_id": 9311,
"hgvs_c": "c.808C>G",
"hgvs_p": "p.Leu270Val",
"transcript": "NM_001161725.2",
"protein_id": "NP_001155197.1",
"transcript_support_level": null,
"aa_start": 270,
"aa_end": null,
"aa_length": 555,
"cds_start": 808,
"cds_end": null,
"cds_length": 1668,
"cdna_start": 993,
"cdna_end": null,
"cdna_length": 4558,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP2R5C",
"gene_hgnc_id": 9311,
"hgvs_c": "c.808C>G",
"hgvs_p": "p.Leu270Val",
"transcript": "ENST00000422945.6",
"protein_id": "ENSP00000412324.2",
"transcript_support_level": 2,
"aa_start": 270,
"aa_end": null,
"aa_length": 555,
"cds_start": 808,
"cds_end": null,
"cds_length": 1668,
"cdna_start": 904,
"cdna_end": null,
"cdna_length": 4481,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP2R5C",
"gene_hgnc_id": 9311,
"hgvs_c": "c.895C>G",
"hgvs_p": "p.Leu299Val",
"transcript": "NM_001352914.2",
"protein_id": "NP_001339843.1",
"transcript_support_level": null,
"aa_start": 299,
"aa_end": null,
"aa_length": 545,
"cds_start": 895,
"cds_end": null,
"cds_length": 1638,
"cdna_start": 1007,
"cdna_end": null,
"cdna_length": 4455,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP2R5C",
"gene_hgnc_id": 9311,
"hgvs_c": "c.880C>G",
"hgvs_p": "p.Leu294Val",
"transcript": "NM_001161726.2",
"protein_id": "NP_001155198.1",
"transcript_support_level": null,
"aa_start": 294,
"aa_end": null,
"aa_length": 540,
"cds_start": 880,
"cds_end": null,
"cds_length": 1623,
"cdna_start": 1065,
"cdna_end": null,
"cdna_length": 4513,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP2R5C",
"gene_hgnc_id": 9311,
"hgvs_c": "c.880C>G",
"hgvs_p": "p.Leu294Val",
"transcript": "ENST00000328724.9",
"protein_id": "ENSP00000329009.5",
"transcript_support_level": 2,
"aa_start": 294,
"aa_end": null,
"aa_length": 540,
"cds_start": 880,
"cds_end": null,
"cds_length": 1623,
"cdna_start": 889,
"cdna_end": null,
"cdna_length": 4045,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP2R5C",
"gene_hgnc_id": 9311,
"hgvs_c": "c.715C>G",
"hgvs_p": "p.Leu239Val",
"transcript": "NM_002719.4",
"protein_id": "NP_002710.2",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 524,
"cds_start": 715,
"cds_end": null,
"cds_length": 1575,
"cdna_start": 823,
"cdna_end": null,
"cdna_length": 4388,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP2R5C",
"gene_hgnc_id": 9311,
"hgvs_c": "c.715C>G",
"hgvs_p": "p.Leu239Val",
"transcript": "NM_001352912.1",
"protein_id": "NP_001339841.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 485,
"cds_start": 715,
"cds_end": null,
"cds_length": 1458,
"cdna_start": 807,
"cdna_end": null,
"cdna_length": 4270,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP2R5C",
"gene_hgnc_id": 9311,
"hgvs_c": "c.715C>G",
"hgvs_p": "p.Leu239Val",
"transcript": "NM_178586.3",
"protein_id": "NP_848701.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 485,
"cds_start": 715,
"cds_end": null,
"cds_length": 1458,
"cdna_start": 823,
"cdna_end": null,
"cdna_length": 4271,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP2R5C",
"gene_hgnc_id": 9311,
"hgvs_c": "c.490C>G",
"hgvs_p": "p.Leu164Val",
"transcript": "NM_001352915.2",
"protein_id": "NP_001339844.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 449,
"cds_start": 490,
"cds_end": null,
"cds_length": 1350,
"cdna_start": 714,
"cdna_end": null,
"cdna_length": 4279,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP2R5C",
"gene_hgnc_id": 9311,
"hgvs_c": "c.715C>G",
"hgvs_p": "p.Leu239Val",
"transcript": "NM_178587.3",
"protein_id": "NP_848702.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 449,
"cds_start": 715,
"cds_end": null,
"cds_length": 1350,
"cdna_start": 823,
"cdna_end": null,
"cdna_length": 1586,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP2R5C",
"gene_hgnc_id": 9311,
"hgvs_c": "c.490C>G",
"hgvs_p": "p.Leu164Val",
"transcript": "NM_001352916.2",
"protein_id": "NP_001339845.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 410,
"cds_start": 490,
"cds_end": null,
"cds_length": 1233,
"cdna_start": 927,
"cdna_end": null,
"cdna_length": 4375,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP2R5C",
"gene_hgnc_id": 9311,
"hgvs_c": "c.622C>G",
"hgvs_p": "p.Leu208Val",
"transcript": "ENST00000557621.5",
"protein_id": "ENSP00000450867.1",
"transcript_support_level": 5,
"aa_start": 208,
"aa_end": null,
"aa_length": 215,
"cds_start": 622,
"cds_end": null,
"cds_length": 650,
"cdna_start": 731,
"cdna_end": null,
"cdna_length": 759,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP2R5C",
"gene_hgnc_id": 9311,
"hgvs_c": "c.112C>G",
"hgvs_p": "p.Leu38Val",
"transcript": "ENST00000557716.2",
"protein_id": "ENSP00000452124.2",
"transcript_support_level": 5,
"aa_start": 38,
"aa_end": null,
"aa_length": 153,
"cds_start": 112,
"cds_end": null,
"cds_length": 462,
"cdna_start": 112,
"cdna_end": null,
"cdna_length": 645,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP2R5C",
"gene_hgnc_id": 9311,
"hgvs_c": "c.895C>G",
"hgvs_p": "p.Leu299Val",
"transcript": "XM_005267819.2",
"protein_id": "XP_005267876.1",
"transcript_support_level": null,
"aa_start": 299,
"aa_end": null,
"aa_length": 584,
"cds_start": 895,
"cds_end": null,
"cds_length": 1755,
"cdna_start": 1007,
"cdna_end": null,
"cdna_length": 4587,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP2R5C",
"gene_hgnc_id": 9311,
"hgvs_c": "c.769C>G",
"hgvs_p": "p.Leu257Val",
"transcript": "XM_047431530.1",
"protein_id": "XP_047287486.1",
"transcript_support_level": null,
"aa_start": 257,
"aa_end": null,
"aa_length": 542,
"cds_start": 769,
"cds_end": null,
"cds_length": 1629,
"cdna_start": 917,
"cdna_end": null,
"cdna_length": 4497,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
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"verdict": "Uncertain_significance",
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"gene_symbol": "PPP2R5C",
"hgnc_id": 9311,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.880C>G",
"hgvs_p": "p.Leu294Val"
}
],
"clinvar_disease": "Prostate cancer",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Prostate cancer",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}