← 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: 16-55810604-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=55810604&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 55810604,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001025195.2",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CES1",
"gene_hgnc_id": 1863,
"hgvs_c": "c.1231A>G",
"hgvs_p": "p.Thr411Ala",
"transcript": "NM_001025195.2",
"protein_id": "NP_001020366.1",
"transcript_support_level": null,
"aa_start": 411,
"aa_end": null,
"aa_length": 568,
"cds_start": 1231,
"cds_end": null,
"cds_length": 1707,
"cdna_start": 1272,
"cdna_end": null,
"cdna_length": 1946,
"mane_select": "ENST00000360526.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001025195.2"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CES1",
"gene_hgnc_id": 1863,
"hgvs_c": "c.1231A>G",
"hgvs_p": "p.Thr411Ala",
"transcript": "ENST00000360526.8",
"protein_id": "ENSP00000353720.4",
"transcript_support_level": 1,
"aa_start": 411,
"aa_end": null,
"aa_length": 568,
"cds_start": 1231,
"cds_end": null,
"cds_length": 1707,
"cdna_start": 1272,
"cdna_end": null,
"cdna_length": 1946,
"mane_select": "NM_001025195.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000360526.8"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CES1",
"gene_hgnc_id": 1863,
"hgvs_c": "c.1228A>G",
"hgvs_p": "p.Thr410Ala",
"transcript": "ENST00000361503.8",
"protein_id": "ENSP00000355193.4",
"transcript_support_level": 1,
"aa_start": 410,
"aa_end": null,
"aa_length": 567,
"cds_start": 1228,
"cds_end": null,
"cds_length": 1704,
"cdna_start": 1359,
"cdna_end": null,
"cdna_length": 1835,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000361503.8"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CES1",
"gene_hgnc_id": 1863,
"hgvs_c": "c.1225A>G",
"hgvs_p": "p.Thr409Ala",
"transcript": "ENST00000422046.6",
"protein_id": "ENSP00000390492.2",
"transcript_support_level": 1,
"aa_start": 409,
"aa_end": null,
"aa_length": 566,
"cds_start": 1225,
"cds_end": null,
"cds_length": 1701,
"cdna_start": 1507,
"cdna_end": null,
"cdna_length": 2178,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000422046.6"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CES1",
"gene_hgnc_id": 1863,
"hgvs_c": "c.1297A>G",
"hgvs_p": "p.Thr433Ala",
"transcript": "ENST00000905505.1",
"protein_id": "ENSP00000575564.1",
"transcript_support_level": null,
"aa_start": 433,
"aa_end": null,
"aa_length": 590,
"cds_start": 1297,
"cds_end": null,
"cds_length": 1773,
"cdna_start": 1333,
"cdna_end": null,
"cdna_length": 2004,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905505.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CES1",
"gene_hgnc_id": 1863,
"hgvs_c": "c.1231A>G",
"hgvs_p": "p.Thr411Ala",
"transcript": "ENST00000905502.1",
"protein_id": "ENSP00000575561.1",
"transcript_support_level": null,
"aa_start": 411,
"aa_end": null,
"aa_length": 586,
"cds_start": 1231,
"cds_end": null,
"cds_length": 1761,
"cdna_start": 1267,
"cdna_end": null,
"cdna_length": 1992,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905502.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CES1",
"gene_hgnc_id": 1863,
"hgvs_c": "c.1228A>G",
"hgvs_p": "p.Thr410Ala",
"transcript": "ENST00000905506.1",
"protein_id": "ENSP00000575565.1",
"transcript_support_level": null,
"aa_start": 410,
"aa_end": null,
"aa_length": 585,
"cds_start": 1228,
"cds_end": null,
"cds_length": 1758,
"cdna_start": 1264,
"cdna_end": null,
"cdna_length": 1989,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905506.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CES1",
"gene_hgnc_id": 1863,
"hgvs_c": "c.1231A>G",
"hgvs_p": "p.Thr411Ala",
"transcript": "ENST00000969258.1",
"protein_id": "ENSP00000639317.1",
"transcript_support_level": null,
"aa_start": 411,
"aa_end": null,
"aa_length": 580,
"cds_start": 1231,
"cds_end": null,
"cds_length": 1743,
"cdna_start": 1280,
"cdna_end": null,
"cdna_length": 1986,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969258.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CES1",
"gene_hgnc_id": 1863,
"hgvs_c": "c.1225A>G",
"hgvs_p": "p.Thr409Ala",
"transcript": "ENST00000905493.1",
"protein_id": "ENSP00000575552.1",
"transcript_support_level": null,
"aa_start": 409,
"aa_end": null,
"aa_length": 578,
"cds_start": 1225,
"cds_end": null,
"cds_length": 1737,
"cdna_start": 1268,
"cdna_end": null,
"cdna_length": 1975,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905493.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CES1",
"gene_hgnc_id": 1863,
"hgvs_c": "c.1252A>G",
"hgvs_p": "p.Thr418Ala",
"transcript": "ENST00000905507.1",
"protein_id": "ENSP00000575566.1",
"transcript_support_level": null,
"aa_start": 418,
"aa_end": null,
"aa_length": 575,
"cds_start": 1252,
"cds_end": null,
"cds_length": 1728,
"cdna_start": 1282,
"cdna_end": null,
"cdna_length": 1953,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905507.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CES1",
"gene_hgnc_id": 1863,
"hgvs_c": "c.1249A>G",
"hgvs_p": "p.Thr417Ala",
"transcript": "ENST00000969257.1",
"protein_id": "ENSP00000639316.1",
"transcript_support_level": null,
"aa_start": 417,
"aa_end": null,
"aa_length": 574,
"cds_start": 1249,
"cds_end": null,
"cds_length": 1725,
"cdna_start": 1303,
"cdna_end": null,
"cdna_length": 1974,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969257.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CES1",
"gene_hgnc_id": 1863,
"hgvs_c": "c.1228A>G",
"hgvs_p": "p.Thr410Ala",
"transcript": "NM_001025194.2",
"protein_id": "NP_001020365.1",
"transcript_support_level": null,
"aa_start": 410,
"aa_end": null,
"aa_length": 567,
"cds_start": 1228,
"cds_end": null,
"cds_length": 1704,
"cdna_start": 1269,
"cdna_end": null,
"cdna_length": 1943,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001025194.2"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CES1",
"gene_hgnc_id": 1863,
"hgvs_c": "c.1228A>G",
"hgvs_p": "p.Thr410Ala",
"transcript": "ENST00000905467.1",
"protein_id": "ENSP00000575526.1",
"transcript_support_level": null,
"aa_start": 410,
"aa_end": null,
"aa_length": 567,
"cds_start": 1228,
"cds_end": null,
"cds_length": 1704,
"cdna_start": 1484,
"cdna_end": null,
"cdna_length": 2164,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905467.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CES1",
"gene_hgnc_id": 1863,
"hgvs_c": "c.1228A>G",
"hgvs_p": "p.Thr410Ala",
"transcript": "ENST00000905504.1",
"protein_id": "ENSP00000575563.1",
"transcript_support_level": null,
"aa_start": 410,
"aa_end": null,
"aa_length": 567,
"cds_start": 1228,
"cds_end": null,
"cds_length": 1704,
"cdna_start": 1264,
"cdna_end": null,
"cdna_length": 1935,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905504.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CES1",
"gene_hgnc_id": 1863,
"hgvs_c": "c.1225A>G",
"hgvs_p": "p.Thr409Ala",
"transcript": "NM_001266.5",
"protein_id": "NP_001257.4",
"transcript_support_level": null,
"aa_start": 409,
"aa_end": null,
"aa_length": 566,
"cds_start": 1225,
"cds_end": null,
"cds_length": 1701,
"cdna_start": 1266,
"cdna_end": null,
"cdna_length": 1940,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001266.5"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CES1",
"gene_hgnc_id": 1863,
"hgvs_c": "c.1225A>G",
"hgvs_p": "p.Thr409Ala",
"transcript": "ENST00000905508.1",
"protein_id": "ENSP00000575567.1",
"transcript_support_level": null,
"aa_start": 409,
"aa_end": null,
"aa_length": 566,
"cds_start": 1225,
"cds_end": null,
"cds_length": 1701,
"cdna_start": 1255,
"cdna_end": null,
"cdna_length": 1926,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905508.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CES1",
"gene_hgnc_id": 1863,
"hgvs_c": "c.1225A>G",
"hgvs_p": "p.Thr409Ala",
"transcript": "ENST00000969256.1",
"protein_id": "ENSP00000639315.1",
"transcript_support_level": null,
"aa_start": 409,
"aa_end": null,
"aa_length": 566,
"cds_start": 1225,
"cds_end": null,
"cds_length": 1701,
"cdna_start": 1284,
"cdna_end": null,
"cdna_length": 1956,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969256.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CES1",
"gene_hgnc_id": 1863,
"hgvs_c": "c.1222A>G",
"hgvs_p": "p.Thr408Ala",
"transcript": "ENST00000905485.1",
"protein_id": "ENSP00000575544.1",
"transcript_support_level": null,
"aa_start": 408,
"aa_end": null,
"aa_length": 565,
"cds_start": 1222,
"cds_end": null,
"cds_length": 1698,
"cdna_start": 1279,
"cdna_end": null,
"cdna_length": 1950,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905485.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CES1",
"gene_hgnc_id": 1863,
"hgvs_c": "c.1222A>G",
"hgvs_p": "p.Thr408Ala",
"transcript": "ENST00000905490.1",
"protein_id": "ENSP00000575549.1",
"transcript_support_level": null,
"aa_start": 408,
"aa_end": null,
"aa_length": 565,
"cds_start": 1222,
"cds_end": null,
"cds_length": 1698,
"cdna_start": 1265,
"cdna_end": null,
"cdna_length": 1936,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905490.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CES1",
"gene_hgnc_id": 1863,
"hgvs_c": "c.1219A>G",
"hgvs_p": "p.Thr407Ala",
"transcript": "ENST00000905496.1",
"protein_id": "ENSP00000575555.1",
"transcript_support_level": null,
"aa_start": 407,
"aa_end": null,
"aa_length": 564,
"cds_start": 1219,
"cds_end": null,
"cds_length": 1695,
"cdna_start": 1260,
"cdna_end": null,
"cdna_length": 1931,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905496.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CES1",
"gene_hgnc_id": 1863,
"hgvs_c": "c.1216A>G",
"hgvs_p": "p.Thr406Ala",
"transcript": "ENST00000905488.1",
"protein_id": "ENSP00000575547.1",
"transcript_support_level": null,
"aa_start": 406,
"aa_end": null,
"aa_length": 563,
"cds_start": 1216,
"cds_end": null,
"cds_length": 1692,
"cdna_start": 1257,
"cdna_end": null,
"cdna_length": 1931,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905488.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CES1",
"gene_hgnc_id": 1863,
"hgvs_c": "c.1216A>G",
"hgvs_p": "p.Thr406Ala",
"transcript": "ENST00000905495.1",
"protein_id": "ENSP00000575554.1",
"transcript_support_level": null,
"aa_start": 406,
"aa_end": null,
"aa_length": 563,
"cds_start": 1216,
"cds_end": null,
"cds_length": 1692,
"cdna_start": 1257,
"cdna_end": null,
"cdna_length": 1928,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905495.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CES1",
"gene_hgnc_id": 1863,
"hgvs_c": "c.1207A>G",
"hgvs_p": "p.Thr403Ala",
"transcript": "ENST00000969260.1",
"protein_id": "ENSP00000639319.1",
"transcript_support_level": null,
"aa_start": 403,
"aa_end": null,
"aa_length": 560,
"cds_start": 1207,
"cds_end": null,
"cds_length": 1683,
"cdna_start": 1244,
"cdna_end": null,
"cdna_length": 1915,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969260.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CES1",
"gene_hgnc_id": 1863,
"hgvs_c": "c.1204A>G",
"hgvs_p": "p.Thr402Ala",
"transcript": "ENST00000969255.1",
"protein_id": "ENSP00000639314.1",
"transcript_support_level": null,
"aa_start": 402,
"aa_end": null,
"aa_length": 559,
"cds_start": 1204,
"cds_end": null,
"cds_length": 1680,
"cdna_start": 1270,
"cdna_end": null,
"cdna_length": 1941,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969255.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CES1",
"gene_hgnc_id": 1863,
"hgvs_c": "c.1204A>G",
"hgvs_p": "p.Thr402Ala",
"transcript": "ENST00000969259.1",
"protein_id": "ENSP00000639318.1",
"transcript_support_level": null,
"aa_start": 402,
"aa_end": null,
"aa_length": 559,
"cds_start": 1204,
"cds_end": null,
"cds_length": 1680,
"cdna_start": 1247,
"cdna_end": null,
"cdna_length": 1921,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969259.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CES1",
"gene_hgnc_id": 1863,
"hgvs_c": "c.1192A>G",
"hgvs_p": "p.Thr398Ala",
"transcript": "ENST00000905486.1",
"protein_id": "ENSP00000575545.1",
"transcript_support_level": null,
"aa_start": 398,
"aa_end": null,
"aa_length": 555,
"cds_start": 1192,
"cds_end": null,
"cds_length": 1668,
"cdna_start": 1246,
"cdna_end": null,
"cdna_length": 1918,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905486.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CES1",
"gene_hgnc_id": 1863,
"hgvs_c": "c.1189A>G",
"hgvs_p": "p.Thr397Ala",
"transcript": "ENST00000905475.1",
"protein_id": "ENSP00000575534.1",
"transcript_support_level": null,
"aa_start": 397,
"aa_end": null,
"aa_length": 554,
"cds_start": 1189,
"cds_end": null,
"cds_length": 1665,
"cdna_start": 1261,
"cdna_end": null,
"cdna_length": 1933,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905475.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CES1",
"gene_hgnc_id": 1863,
"hgvs_c": "c.1189A>G",
"hgvs_p": "p.Thr397Ala",
"transcript": "ENST00000905483.1",
"protein_id": "ENSP00000575542.1",
"transcript_support_level": null,
"aa_start": 397,
"aa_end": null,
"aa_length": 554,
"cds_start": 1189,
"cds_end": null,
"cds_length": 1665,
"cdna_start": 1248,
"cdna_end": null,
"cdna_length": 1919,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905483.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CES1",
"gene_hgnc_id": 1863,
"hgvs_c": "c.1186A>G",
"hgvs_p": "p.Thr396Ala",
"transcript": "ENST00000905497.1",
"protein_id": "ENSP00000575556.1",
"transcript_support_level": null,
"aa_start": 396,
"aa_end": null,
"aa_length": 553,
"cds_start": 1186,
"cds_end": null,
"cds_length": 1662,
"cdna_start": 1227,
"cdna_end": null,
"cdna_length": 1898,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905497.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CES1",
"gene_hgnc_id": 1863,
"hgvs_c": "c.1186A>G",
"hgvs_p": "p.Thr396Ala",
"transcript": "ENST00000905499.1",
"protein_id": "ENSP00000575558.1",
"transcript_support_level": null,
"aa_start": 396,
"aa_end": null,
"aa_length": 553,
"cds_start": 1186,
"cds_end": null,
"cds_length": 1662,
"cdna_start": 1225,
"cdna_end": null,
"cdna_length": 1896,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905499.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CES1",
"gene_hgnc_id": 1863,
"hgvs_c": "c.1162A>G",
"hgvs_p": "p.Thr388Ala",
"transcript": "ENST00000905509.1",
"protein_id": "ENSP00000575568.1",
"transcript_support_level": null,
"aa_start": 388,
"aa_end": null,
"aa_length": 545,
"cds_start": 1162,
"cds_end": null,
"cds_length": 1638,
"cdna_start": 1183,
"cdna_end": null,
"cdna_length": 1853,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905509.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CES1",
"gene_hgnc_id": 1863,
"hgvs_c": "c.1231A>G",
"hgvs_p": "p.Thr411Ala",
"transcript": "ENST00000905503.1",
"protein_id": "ENSP00000575562.1",
"transcript_support_level": null,
"aa_start": 411,
"aa_end": null,
"aa_length": 542,
"cds_start": 1231,
"cds_end": null,
"cds_length": 1629,
"cdna_start": 1267,
"cdna_end": null,
"cdna_length": 1860,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905503.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CES1",
"gene_hgnc_id": 1863,
"hgvs_c": "c.1147A>G",
"hgvs_p": "p.Thr383Ala",
"transcript": "ENST00000905498.1",
"protein_id": "ENSP00000575557.1",
"transcript_support_level": null,
"aa_start": 383,
"aa_end": null,
"aa_length": 540,
"cds_start": 1147,
"cds_end": null,
"cds_length": 1623,
"cdna_start": 1188,
"cdna_end": null,
"cdna_length": 1859,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905498.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CES1",
"gene_hgnc_id": 1863,
"hgvs_c": "c.1144A>G",
"hgvs_p": "p.Thr382Ala",
"transcript": "ENST00000905478.1",
"protein_id": "ENSP00000575537.1",
"transcript_support_level": null,
"aa_start": 382,
"aa_end": null,
"aa_length": 539,
"cds_start": 1144,
"cds_end": null,
"cds_length": 1620,
"cdna_start": 1210,
"cdna_end": null,
"cdna_length": 1881,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905478.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CES1",
"gene_hgnc_id": 1863,
"hgvs_c": "c.1126A>G",
"hgvs_p": "p.Thr376Ala",
"transcript": "ENST00000932715.1",
"protein_id": "ENSP00000602774.1",
"transcript_support_level": null,
"aa_start": 376,
"aa_end": null,
"aa_length": 533,
"cds_start": 1126,
"cds_end": null,
"cds_length": 1602,
"cdna_start": 1243,
"cdna_end": null,
"cdna_length": 1917,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932715.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CES1",
"gene_hgnc_id": 1863,
"hgvs_c": "c.1123A>G",
"hgvs_p": "p.Thr375Ala",
"transcript": "ENST00000905468.1",
"protein_id": "ENSP00000575527.1",
"transcript_support_level": null,
"aa_start": 375,
"aa_end": null,
"aa_length": 532,
"cds_start": 1123,
"cds_end": null,
"cds_length": 1599,
"cdna_start": 1326,
"cdna_end": null,
"cdna_length": 2000,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905468.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CES1",
"gene_hgnc_id": 1863,
"hgvs_c": "c.1123A>G",
"hgvs_p": "p.Thr375Ala",
"transcript": "ENST00000905469.1",
"protein_id": "ENSP00000575528.1",
"transcript_support_level": null,
"aa_start": 375,
"aa_end": null,
"aa_length": 532,
"cds_start": 1123,
"cds_end": null,
"cds_length": 1599,
"cdna_start": 1306,
"cdna_end": null,
"cdna_length": 1977,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905469.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CES1",
"gene_hgnc_id": 1863,
"hgvs_c": "c.1123A>G",
"hgvs_p": "p.Thr375Ala",
"transcript": "ENST00000905476.1",
"protein_id": "ENSP00000575535.1",
"transcript_support_level": null,
"aa_start": 375,
"aa_end": null,
"aa_length": 532,
"cds_start": 1123,
"cds_end": null,
"cds_length": 1599,
"cdna_start": 1195,
"cdna_end": null,
"cdna_length": 1866,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905476.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CES1",
"gene_hgnc_id": 1863,
"hgvs_c": "c.1120A>G",
"hgvs_p": "p.Thr374Ala",
"transcript": "ENST00000905471.1",
"protein_id": "ENSP00000575530.1",
"transcript_support_level": null,
"aa_start": 374,
"aa_end": null,
"aa_length": 531,
"cds_start": 1120,
"cds_end": null,
"cds_length": 1596,
"cdna_start": 1215,
"cdna_end": null,
"cdna_length": 1889,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905471.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CES1",
"gene_hgnc_id": 1863,
"hgvs_c": "c.1120A>G",
"hgvs_p": "p.Thr374Ala",
"transcript": "ENST00000905472.1",
"protein_id": "ENSP00000575531.1",
"transcript_support_level": null,
"aa_start": 374,
"aa_end": null,
"aa_length": 531,
"cds_start": 1120,
"cds_end": null,
"cds_length": 1596,
"cdna_start": 1209,
"cdna_end": null,
"cdna_length": 1880,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905472.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CES1",
"gene_hgnc_id": 1863,
"hgvs_c": "c.1117A>G",
"hgvs_p": "p.Thr373Ala",
"transcript": "ENST00000905477.1",
"protein_id": "ENSP00000575536.1",
"transcript_support_level": null,
"aa_start": 373,
"aa_end": null,
"aa_length": 530,
"cds_start": 1117,
"cds_end": null,
"cds_length": 1593,
"cdna_start": 1183,
"cdna_end": null,
"cdna_length": 1854,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905477.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CES1",
"gene_hgnc_id": 1863,
"hgvs_c": "c.1102A>G",
"hgvs_p": "p.Thr368Ala",
"transcript": "ENST00000969254.1",
"protein_id": "ENSP00000639313.1",
"transcript_support_level": null,
"aa_start": 368,
"aa_end": null,
"aa_length": 525,
"cds_start": 1102,
"cds_end": null,
"cds_length": 1578,
"cdna_start": 1186,
"cdna_end": null,
"cdna_length": 1860,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969254.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CES1",
"gene_hgnc_id": 1863,
"hgvs_c": "c.1099A>G",
"hgvs_p": "p.Thr367Ala",
"transcript": "ENST00000905501.1",
"protein_id": "ENSP00000575560.1",
"transcript_support_level": null,
"aa_start": 367,
"aa_end": null,
"aa_length": 524,
"cds_start": 1099,
"cds_end": null,
"cds_length": 1575,
"cdna_start": 1137,
"cdna_end": null,
"cdna_length": 1808,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905501.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CES1",
"gene_hgnc_id": 1863,
"hgvs_c": "c.1099A>G",
"hgvs_p": "p.Thr367Ala",
"transcript": "ENST00000969253.1",
"protein_id": "ENSP00000639312.1",
"transcript_support_level": null,
"aa_start": 367,
"aa_end": null,
"aa_length": 524,
"cds_start": 1099,
"cds_end": null,
"cds_length": 1575,
"cdna_start": 1209,
"cdna_end": null,
"cdna_length": 1881,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969253.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CES1",
"gene_hgnc_id": 1863,
"hgvs_c": "c.1096A>G",
"hgvs_p": "p.Thr366Ala",
"transcript": "ENST00000905473.1",
"protein_id": "ENSP00000575532.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 523,
"cds_start": 1096,
"cds_end": null,
"cds_length": 1572,
"cdna_start": 1185,
"cdna_end": null,
"cdna_length": 1856,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905473.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CES1",
"gene_hgnc_id": 1863,
"hgvs_c": "c.1090A>G",
"hgvs_p": "p.Thr364Ala",
"transcript": "ENST00000905470.1",
"protein_id": "ENSP00000575529.1",
"transcript_support_level": null,
"aa_start": 364,
"aa_end": null,
"aa_length": 521,
"cds_start": 1090,
"cds_end": null,
"cds_length": 1566,
"cdna_start": 1209,
"cdna_end": null,
"cdna_length": 1881,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905470.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CES1",
"gene_hgnc_id": 1863,
"hgvs_c": "c.1087A>G",
"hgvs_p": "p.Thr363Ala",
"transcript": "ENST00000905474.1",
"protein_id": "ENSP00000575533.1",
"transcript_support_level": null,
"aa_start": 363,
"aa_end": null,
"aa_length": 520,
"cds_start": 1087,
"cds_end": null,
"cds_length": 1563,
"cdna_start": 1160,
"cdna_end": null,
"cdna_length": 1834,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905474.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CES1",
"gene_hgnc_id": 1863,
"hgvs_c": "c.1087A>G",
"hgvs_p": "p.Thr363Ala",
"transcript": "ENST00000905491.1",
"protein_id": "ENSP00000575550.1",
"transcript_support_level": null,
"aa_start": 363,
"aa_end": null,
"aa_length": 520,
"cds_start": 1087,
"cds_end": null,
"cds_length": 1563,
"cdna_start": 1130,
"cdna_end": null,
"cdna_length": 1801,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905491.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CES1",
"gene_hgnc_id": 1863,
"hgvs_c": "c.1084A>G",
"hgvs_p": "p.Thr362Ala",
"transcript": "ENST00000905484.1",
"protein_id": "ENSP00000575543.1",
"transcript_support_level": null,
"aa_start": 362,
"aa_end": null,
"aa_length": 519,
"cds_start": 1084,
"cds_end": null,
"cds_length": 1560,
"cdna_start": 1143,
"cdna_end": null,
"cdna_length": 1814,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905484.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CES1",
"gene_hgnc_id": 1863,
"hgvs_c": "c.1051A>G",
"hgvs_p": "p.Thr351Ala",
"transcript": "ENST00000905481.1",
"protein_id": "ENSP00000575540.1",
"transcript_support_level": null,
"aa_start": 351,
"aa_end": null,
"aa_length": 508,
"cds_start": 1051,
"cds_end": null,
"cds_length": 1527,
"cdna_start": 1113,
"cdna_end": null,
"cdna_length": 1784,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905481.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CES1",
"gene_hgnc_id": 1863,
"hgvs_c": "c.1048A>G",
"hgvs_p": "p.Thr350Ala",
"transcript": "ENST00000905479.1",
"protein_id": "ENSP00000575538.1",
"transcript_support_level": null,
"aa_start": 350,
"aa_end": null,
"aa_length": 507,
"cds_start": 1048,
"cds_end": null,
"cds_length": 1524,
"cdna_start": 1110,
"cdna_end": null,
"cdna_length": 1784,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905479.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CES1",
"gene_hgnc_id": 1863,
"hgvs_c": "c.1045A>G",
"hgvs_p": "p.Thr349Ala",
"transcript": "ENST00000905489.1",
"protein_id": "ENSP00000575548.1",
"transcript_support_level": null,
"aa_start": 349,
"aa_end": null,
"aa_length": 506,
"cds_start": 1045,
"cds_end": null,
"cds_length": 1521,
"cdna_start": 1088,
"cdna_end": null,
"cdna_length": 1759,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905489.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CES1",
"gene_hgnc_id": 1863,
"hgvs_c": "c.1003A>G",
"hgvs_p": "p.Thr335Ala",
"transcript": "ENST00000905482.1",
"protein_id": "ENSP00000575541.1",
"transcript_support_level": null,
"aa_start": 335,
"aa_end": null,
"aa_length": 492,
"cds_start": 1003,
"cds_end": null,
"cds_length": 1479,
"cdna_start": 1062,
"cdna_end": null,
"cdna_length": 1734,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905482.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CES1",
"gene_hgnc_id": 1863,
"hgvs_c": "c.979A>G",
"hgvs_p": "p.Thr327Ala",
"transcript": "ENST00000905480.1",
"protein_id": "ENSP00000575539.1",
"transcript_support_level": null,
"aa_start": 327,
"aa_end": null,
"aa_length": 484,
"cds_start": 979,
"cds_end": null,
"cds_length": 1455,
"cdna_start": 1041,
"cdna_end": null,
"cdna_length": 1712,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905480.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CES1",
"gene_hgnc_id": 1863,
"hgvs_c": "c.862A>G",
"hgvs_p": "p.Thr288Ala",
"transcript": "ENST00000905494.1",
"protein_id": "ENSP00000575553.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 445,
"cds_start": 862,
"cds_end": null,
"cds_length": 1338,
"cdna_start": 904,
"cdna_end": null,
"cdna_length": 1575,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905494.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CES1",
"gene_hgnc_id": 1863,
"hgvs_c": "c.859A>G",
"hgvs_p": "p.Thr287Ala",
"transcript": "ENST00000905500.1",
"protein_id": "ENSP00000575559.1",
"transcript_support_level": null,
"aa_start": 287,
"aa_end": null,
"aa_length": 444,
"cds_start": 859,
"cds_end": null,
"cds_length": 1335,
"cdna_start": 897,
"cdna_end": null,
"cdna_length": 1568,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905500.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CES1",
"gene_hgnc_id": 1863,
"hgvs_c": "c.751A>G",
"hgvs_p": "p.Thr251Ala",
"transcript": "ENST00000905492.1",
"protein_id": "ENSP00000575551.1",
"transcript_support_level": null,
"aa_start": 251,
"aa_end": null,
"aa_length": 408,
"cds_start": 751,
"cds_end": null,
"cds_length": 1227,
"cdna_start": 794,
"cdna_end": null,
"cdna_length": 1465,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905492.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CES1",
"gene_hgnc_id": 1863,
"hgvs_c": "c.52A>G",
"hgvs_p": "p.Thr18Ala",
"transcript": "ENST00000563241.5",
"protein_id": "ENSP00000455959.1",
"transcript_support_level": 3,
"aa_start": 18,
"aa_end": null,
"aa_length": 131,
"cds_start": 52,
"cds_end": null,
"cds_length": 396,
"cdna_start": 52,
"cdna_end": null,
"cdna_length": 509,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000563241.5"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CES1",
"gene_hgnc_id": 1863,
"hgvs_c": "c.1228A>G",
"hgvs_p": "p.Thr410Ala",
"transcript": "XM_005255774.3",
"protein_id": "XP_005255831.1",
"transcript_support_level": null,
"aa_start": 410,
"aa_end": null,
"aa_length": 567,
"cds_start": 1228,
"cds_end": null,
"cds_length": 1704,
"cdna_start": 1269,
"cdna_end": null,
"cdna_length": 1943,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005255774.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CES1",
"gene_hgnc_id": 1863,
"hgvs_c": "c.53-4140A>G",
"hgvs_p": null,
"transcript": "ENST00000905487.1",
"protein_id": "ENSP00000575546.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 146,
"cds_start": null,
"cds_end": null,
"cds_length": 441,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 682,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905487.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CES1",
"gene_hgnc_id": 1863,
"hgvs_c": "n.*213A>G",
"hgvs_p": null,
"transcript": "ENST00000569260.1",
"protein_id": "ENSP00000456865.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 499,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000569260.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CES1",
"gene_hgnc_id": 1863,
"hgvs_c": "n.*213A>G",
"hgvs_p": null,
"transcript": "ENST00000569260.1",
"protein_id": "ENSP00000456865.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 499,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000569260.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CES1",
"gene_hgnc_id": 1863,
"hgvs_c": "n.72+2299A>G",
"hgvs_p": null,
"transcript": "ENST00000565568.1",
"protein_id": "ENSP00000455902.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 659,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000565568.1"
}
],
"gene_symbol": "CES1",
"gene_hgnc_id": 1863,
"dbsnp": "rs770895591",
"frequency_reference_population": 0.0000012391466,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 6.84073e-7,
"gnomad_genomes_af": 0.00000657108,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0921541154384613,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.076,
"revel_prediction": "Benign",
"alphamissense_score": 0.0661,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.47,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.353,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001025195.2",
"gene_symbol": "CES1",
"hgnc_id": 1863,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.1231A>G",
"hgvs_p": "p.Thr411Ala"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}