← Back to variant description
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: 5-171870795-TC-GA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=171870795&ref=TC&alt=GA&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PS1",
"PM5",
"PP2",
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "FBXW11",
"hgnc_id": 13607,
"hgvs_c": "c.1403_1404delGAinsTC",
"hgvs_p": "p.Arg468Leu",
"inheritance_mode": "AD",
"pathogenic_score": 8,
"score": 8,
"transcript": "NM_001378974.1",
"verdict": "Likely_pathogenic"
}
],
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PS1,PM5,PP2,PP3",
"acmg_score": 8,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "GA",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "5",
"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": "L",
"aa_end": null,
"aa_length": 563,
"aa_ref": "R",
"aa_start": 468,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4406,
"cdna_start": 1540,
"cds_end": null,
"cds_length": 1692,
"cds_start": 1403,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001378974.1",
"gene_hgnc_id": 13607,
"gene_symbol": "FBXW11",
"hgvs_c": "c.1403_1404delGAinsTC",
"hgvs_p": "p.Arg468Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000517395.6",
"protein_coding": true,
"protein_id": "NP_001365903.1",
"strand": false,
"transcript": "NM_001378974.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 563,
"aa_ref": "R",
"aa_start": 468,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4406,
"cdna_start": 1540,
"cds_end": null,
"cds_length": 1692,
"cds_start": 1403,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000517395.6",
"gene_hgnc_id": 13607,
"gene_symbol": "FBXW11",
"hgvs_c": "c.1403_1404delGAinsTC",
"hgvs_p": "p.Arg468Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001378974.1",
"protein_coding": true,
"protein_id": "ENSP00000428753.2",
"strand": false,
"transcript": "ENST00000517395.6",
"transcript_support_level": 3
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 542,
"aa_ref": "R",
"aa_start": 447,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4342,
"cdna_start": 1479,
"cds_end": null,
"cds_length": 1629,
"cds_start": 1340,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000265094.9",
"gene_hgnc_id": 13607,
"gene_symbol": "FBXW11",
"hgvs_c": "c.1340_1341delGAinsTC",
"hgvs_p": "p.Arg447Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000265094.5",
"strand": false,
"transcript": "ENST00000265094.9",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 529,
"aa_ref": "R",
"aa_start": 434,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4539,
"cdna_start": 1673,
"cds_end": null,
"cds_length": 1590,
"cds_start": 1301,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000296933.10",
"gene_hgnc_id": 13607,
"gene_symbol": "FBXW11",
"hgvs_c": "c.1301_1302delGAinsTC",
"hgvs_p": "p.Arg434Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000296933.6",
"strand": false,
"transcript": "ENST00000296933.10",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 508,
"aa_ref": "R",
"aa_start": 413,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2181,
"cdna_start": 1387,
"cds_end": null,
"cds_length": 1527,
"cds_start": 1238,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000393802.6",
"gene_hgnc_id": 13607,
"gene_symbol": "FBXW11",
"hgvs_c": "c.1238_1239delGAinsTC",
"hgvs_p": "p.Arg413Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000377391.2",
"strand": false,
"transcript": "ENST00000393802.6",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 563,
"aa_ref": "R",
"aa_start": 468,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2242,
"cdna_start": 1545,
"cds_end": null,
"cds_length": 1692,
"cds_start": 1403,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000962353.1",
"gene_hgnc_id": 13607,
"gene_symbol": "FBXW11",
"hgvs_c": "c.1403_1404delGAinsTC",
"hgvs_p": "p.Arg468Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632412.1",
"strand": false,
"transcript": "ENST00000962353.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 542,
"aa_ref": "R",
"aa_start": 447,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4343,
"cdna_start": 1477,
"cds_end": null,
"cds_length": 1629,
"cds_start": 1340,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_012300.3",
"gene_hgnc_id": 13607,
"gene_symbol": "FBXW11",
"hgvs_c": "c.1340_1341delGAinsTC",
"hgvs_p": "p.Arg447Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_036432.2",
"strand": false,
"transcript": "NM_012300.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 542,
"aa_ref": "R",
"aa_start": 447,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2133,
"cdna_start": 1436,
"cds_end": null,
"cds_length": 1629,
"cds_start": 1340,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000873749.1",
"gene_hgnc_id": 13607,
"gene_symbol": "FBXW11",
"hgvs_c": "c.1340_1341delGAinsTC",
"hgvs_p": "p.Arg447Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000543808.1",
"strand": false,
"transcript": "ENST00000873749.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 540,
"aa_ref": "R",
"aa_start": 445,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4337,
"cdna_start": 1471,
"cds_end": null,
"cds_length": 1623,
"cds_start": 1334,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001378975.1",
"gene_hgnc_id": 13607,
"gene_symbol": "FBXW11",
"hgvs_c": "c.1334_1335delGAinsTC",
"hgvs_p": "p.Arg445Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001365904.1",
"strand": false,
"transcript": "NM_001378975.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 531,
"aa_ref": "R",
"aa_start": 436,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4568,
"cdna_start": 1702,
"cds_end": null,
"cds_length": 1596,
"cds_start": 1307,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001378976.1",
"gene_hgnc_id": 13607,
"gene_symbol": "FBXW11",
"hgvs_c": "c.1307_1308delGAinsTC",
"hgvs_p": "p.Arg436Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001365905.1",
"strand": false,
"transcript": "NM_001378976.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 529,
"aa_ref": "R",
"aa_start": 434,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4304,
"cdna_start": 1438,
"cds_end": null,
"cds_length": 1590,
"cds_start": 1301,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_033644.3",
"gene_hgnc_id": 13607,
"gene_symbol": "FBXW11",
"hgvs_c": "c.1301_1302delGAinsTC",
"hgvs_p": "p.Arg434Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_387448.2",
"strand": false,
"transcript": "NM_033644.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 529,
"aa_ref": "R",
"aa_start": 434,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2310,
"cdna_start": 1338,
"cds_end": null,
"cds_length": 1590,
"cds_start": 1301,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000873746.1",
"gene_hgnc_id": 13607,
"gene_symbol": "FBXW11",
"hgvs_c": "c.1301_1302delGAinsTC",
"hgvs_p": "p.Arg434Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000543805.1",
"strand": false,
"transcript": "ENST00000873746.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 529,
"aa_ref": "R",
"aa_start": 434,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2622,
"cdna_start": 1470,
"cds_end": null,
"cds_length": 1590,
"cds_start": 1301,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000873748.1",
"gene_hgnc_id": 13607,
"gene_symbol": "FBXW11",
"hgvs_c": "c.1301_1302delGAinsTC",
"hgvs_p": "p.Arg434Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000543807.1",
"strand": false,
"transcript": "ENST00000873748.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 528,
"aa_ref": "R",
"aa_start": 434,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4300,
"cdna_start": 1436,
"cds_end": null,
"cds_length": 1587,
"cds_start": 1301,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000940682.1",
"gene_hgnc_id": 13607,
"gene_symbol": "FBXW11",
"hgvs_c": "c.1301_1302delGAinsTC",
"hgvs_p": "p.Arg434Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000610741.1",
"strand": false,
"transcript": "ENST00000940682.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 528,
"aa_ref": "R",
"aa_start": 433,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4304,
"cdna_start": 1445,
"cds_end": null,
"cds_length": 1587,
"cds_start": 1298,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000962351.1",
"gene_hgnc_id": 13607,
"gene_symbol": "FBXW11",
"hgvs_c": "c.1298_1299delGAinsTC",
"hgvs_p": "p.Arg433Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632410.1",
"strand": false,
"transcript": "ENST00000962351.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 510,
"aa_ref": "R",
"aa_start": 415,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4466,
"cdna_start": 1600,
"cds_end": null,
"cds_length": 1533,
"cds_start": 1244,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001378977.1",
"gene_hgnc_id": 13607,
"gene_symbol": "FBXW11",
"hgvs_c": "c.1244_1245delGAinsTC",
"hgvs_p": "p.Arg415Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001365906.1",
"strand": false,
"transcript": "NM_001378977.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 510,
"aa_ref": "R",
"aa_start": 415,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4434,
"cdna_start": 1568,
"cds_end": null,
"cds_length": 1533,
"cds_start": 1244,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001378978.1",
"gene_hgnc_id": 13607,
"gene_symbol": "FBXW11",
"hgvs_c": "c.1244_1245delGAinsTC",
"hgvs_p": "p.Arg415Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001365907.1",
"strand": false,
"transcript": "NM_001378978.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 510,
"aa_ref": "R",
"aa_start": 415,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4505,
"cdna_start": 1639,
"cds_end": null,
"cds_length": 1533,
"cds_start": 1244,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001378979.1",
"gene_hgnc_id": 13607,
"gene_symbol": "FBXW11",
"hgvs_c": "c.1244_1245delGAinsTC",
"hgvs_p": "p.Arg415Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001365908.1",
"strand": false,
"transcript": "NM_001378979.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 508,
"aa_ref": "R",
"aa_start": 413,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4231,
"cdna_start": 1375,
"cds_end": null,
"cds_length": 1527,
"cds_start": 1238,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001378980.1",
"gene_hgnc_id": 13607,
"gene_symbol": "FBXW11",
"hgvs_c": "c.1238_1239delGAinsTC",
"hgvs_p": "p.Arg413Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001365909.1",
"strand": false,
"transcript": "NM_001378980.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 508,
"aa_ref": "R",
"aa_start": 413,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4241,
"cdna_start": 1375,
"cds_end": null,
"cds_length": 1527,
"cds_start": 1238,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_033645.3",
"gene_hgnc_id": 13607,
"gene_symbol": "FBXW11",
"hgvs_c": "c.1238_1239delGAinsTC",
"hgvs_p": "p.Arg413Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_387449.2",
"strand": false,
"transcript": "NM_033645.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 508,
"aa_ref": "R",
"aa_start": 413,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2770,
"cdna_start": 1610,
"cds_end": null,
"cds_length": 1527,
"cds_start": 1238,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000873747.1",
"gene_hgnc_id": 13607,
"gene_symbol": "FBXW11",
"hgvs_c": "c.1238_1239delGAinsTC",
"hgvs_p": "p.Arg413Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000543806.1",
"strand": false,
"transcript": "ENST00000873747.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 508,
"aa_ref": "R",
"aa_start": 413,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4068,
"cdna_start": 1375,
"cds_end": null,
"cds_length": 1527,
"cds_start": 1238,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000962352.1",
"gene_hgnc_id": 13607,
"gene_symbol": "FBXW11",
"hgvs_c": "c.1238_1239delGAinsTC",
"hgvs_p": "p.Arg413Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632411.1",
"strand": false,
"transcript": "ENST00000962352.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 507,
"aa_ref": "R",
"aa_start": 413,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4258,
"cdna_start": 1400,
"cds_end": null,
"cds_length": 1524,
"cds_start": 1238,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000940681.1",
"gene_hgnc_id": 13607,
"gene_symbol": "FBXW11",
"hgvs_c": "c.1238_1239delGAinsTC",
"hgvs_p": "p.Arg413Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000610740.1",
"strand": false,
"transcript": "ENST00000940681.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 507,
"aa_ref": "R",
"aa_start": 412,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4234,
"cdna_start": 1372,
"cds_end": null,
"cds_length": 1524,
"cds_start": 1235,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000940683.1",
"gene_hgnc_id": 13607,
"gene_symbol": "FBXW11",
"hgvs_c": "c.1235_1236delGAinsTC",
"hgvs_p": "p.Arg412Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000610742.1",
"strand": false,
"transcript": "ENST00000940683.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 503,
"aa_ref": "R",
"aa_start": 408,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4236,
"cdna_start": 1372,
"cds_end": null,
"cds_length": 1512,
"cds_start": 1223,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000962350.1",
"gene_hgnc_id": 13607,
"gene_symbol": "FBXW11",
"hgvs_c": "c.1223_1224delGAinsTC",
"hgvs_p": "p.Arg408Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632409.1",
"strand": false,
"transcript": "ENST00000962350.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 462,
"aa_ref": "R",
"aa_start": 367,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4020,
"cdna_start": 1234,
"cds_end": null,
"cds_length": 1389,
"cds_start": 1100,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000873745.1",
"gene_hgnc_id": 13607,
"gene_symbol": "FBXW11",
"hgvs_c": "c.1100_1101delGAinsTC",
"hgvs_p": "p.Arg367Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000543804.1",
"strand": false,
"transcript": "ENST00000873745.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 542,
"aa_ref": "R",
"aa_start": 447,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7079,
"cdna_start": 4213,
"cds_end": null,
"cds_length": 1629,
"cds_start": 1340,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017009279.2",
"gene_hgnc_id": 13607,
"gene_symbol": "FBXW11",
"hgvs_c": "c.1340_1341delGAinsTC",
"hgvs_p": "p.Arg447Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016864768.1",
"strand": false,
"transcript": "XM_017009279.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 515,
"aa_ref": "R",
"aa_start": 420,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4136,
"cdna_start": 1270,
"cds_end": null,
"cds_length": 1548,
"cds_start": 1259,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_005265857.2",
"gene_hgnc_id": 13607,
"gene_symbol": "FBXW11",
"hgvs_c": "c.1259_1260delGAinsTC",
"hgvs_p": "p.Arg420Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005265914.1",
"strand": false,
"transcript": "XM_005265857.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 444,
"aa_ref": "R",
"aa_start": 349,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4222,
"cdna_start": 1356,
"cds_end": null,
"cds_length": 1335,
"cds_start": 1046,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047417023.1",
"gene_hgnc_id": 13607,
"gene_symbol": "FBXW11",
"hgvs_c": "c.1046_1047delGAinsTC",
"hgvs_p": "p.Arg349Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047272979.1",
"strand": false,
"transcript": "XM_047417023.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 713,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000522376.1",
"gene_hgnc_id": 13607,
"gene_symbol": "FBXW11",
"hgvs_c": "n.189_190delGAinsTC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000522376.1",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2099,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000523843.5",
"gene_hgnc_id": 13607,
"gene_symbol": "FBXW11",
"hgvs_c": "n.*1319_*1320delGAinsTC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000430104.1",
"strand": false,
"transcript": "ENST00000523843.5",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2099,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000523843.5",
"gene_hgnc_id": 13607,
"gene_symbol": "FBXW11",
"hgvs_c": "n.*1319_*1320delGAinsTC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000430104.1",
"strand": false,
"transcript": "ENST00000523843.5",
"transcript_support_level": 5
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": null,
"effect": "missense_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 13607,
"gene_symbol": "FBXW11",
"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": null,
"phenotype_combined": null,
"phylop100way_prediction": "Pathogenic",
"phylop100way_score": 7.858,
"pos": 171870795,
"ref": "TC",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": null,
"splice_score_selected": null,
"splice_source_selected": null,
"spliceai_max_prediction": null,
"spliceai_max_score": null,
"transcript": "NM_001378974.1"
}
]
}