← 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: 2-85840154-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=85840154&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 85840154,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000638572.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL5",
"gene_hgnc_id": 10872,
"hgvs_c": "c.1247G>T",
"hgvs_p": "p.Arg416Leu",
"transcript": "NM_003896.4",
"protein_id": "NP_003887.3",
"transcript_support_level": null,
"aa_start": 416,
"aa_end": null,
"aa_length": 418,
"cds_start": 1247,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 1332,
"cdna_end": null,
"cdna_length": 4366,
"mane_select": "ENST00000638572.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL5",
"gene_hgnc_id": 10872,
"hgvs_c": "c.1247G>T",
"hgvs_p": "p.Arg416Leu",
"transcript": "ENST00000638572.2",
"protein_id": "ENSP00000491316.1",
"transcript_support_level": 1,
"aa_start": 416,
"aa_end": null,
"aa_length": 418,
"cds_start": 1247,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 1332,
"cdna_end": null,
"cdna_length": 4366,
"mane_select": "NM_003896.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL5",
"gene_hgnc_id": 10872,
"hgvs_c": "c.1178G>T",
"hgvs_p": "p.Arg393Leu",
"transcript": "ENST00000393808.8",
"protein_id": "ENSP00000377397.3",
"transcript_support_level": 1,
"aa_start": 393,
"aa_end": null,
"aa_length": 395,
"cds_start": 1178,
"cds_end": null,
"cds_length": 1188,
"cdna_start": 1231,
"cdna_end": null,
"cdna_length": 2236,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL5",
"gene_hgnc_id": 10872,
"hgvs_c": "c.1163G>T",
"hgvs_p": "p.Arg388Leu",
"transcript": "ENST00000393805.6",
"protein_id": "ENSP00000377394.1",
"transcript_support_level": 1,
"aa_start": 388,
"aa_end": null,
"aa_length": 390,
"cds_start": 1163,
"cds_end": null,
"cds_length": 1173,
"cdna_start": 1339,
"cdna_end": null,
"cdna_length": 2344,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL5",
"gene_hgnc_id": 10872,
"hgvs_c": "n.2482G>T",
"hgvs_p": null,
"transcript": "ENST00000461206.1",
"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": 3487,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL5",
"gene_hgnc_id": 10872,
"hgvs_c": "n.2097G>T",
"hgvs_p": null,
"transcript": "ENST00000639472.1",
"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": 3062,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": "ST3GAL5",
"gene_hgnc_id": 10872,
"hgvs_c": "n.*1252G>T",
"hgvs_p": null,
"transcript": "ENST00000640378.1",
"protein_id": "ENSP00000492030.1",
"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": 2407,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": "ST3GAL5",
"gene_hgnc_id": 10872,
"hgvs_c": "n.*1252G>T",
"hgvs_p": null,
"transcript": "ENST00000640378.1",
"protein_id": "ENSP00000492030.1",
"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": 2407,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL5",
"gene_hgnc_id": 10872,
"hgvs_c": "c.1304G>T",
"hgvs_p": "p.Arg435Leu",
"transcript": "ENST00000640418.1",
"protein_id": "ENSP00000492098.1",
"transcript_support_level": 5,
"aa_start": 435,
"aa_end": null,
"aa_length": 437,
"cds_start": 1304,
"cds_end": null,
"cds_length": 1314,
"cdna_start": 1501,
"cdna_end": null,
"cdna_length": 2467,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL5",
"gene_hgnc_id": 10872,
"hgvs_c": "c.1211G>T",
"hgvs_p": "p.Arg404Leu",
"transcript": "ENST00000639305.1",
"protein_id": "ENSP00000492244.1",
"transcript_support_level": 5,
"aa_start": 404,
"aa_end": null,
"aa_length": 406,
"cds_start": 1211,
"cds_end": null,
"cds_length": 1221,
"cdna_start": 1212,
"cdna_end": null,
"cdna_length": 2160,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL5",
"gene_hgnc_id": 10872,
"hgvs_c": "c.1178G>T",
"hgvs_p": "p.Arg393Leu",
"transcript": "NM_001042437.2",
"protein_id": "NP_001035902.1",
"transcript_support_level": null,
"aa_start": 393,
"aa_end": null,
"aa_length": 395,
"cds_start": 1178,
"cds_end": null,
"cds_length": 1188,
"cdna_start": 1231,
"cdna_end": null,
"cdna_length": 4265,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL5",
"gene_hgnc_id": 10872,
"hgvs_c": "c.1163G>T",
"hgvs_p": "p.Arg388Leu",
"transcript": "NM_001354227.2",
"protein_id": "NP_001341156.1",
"transcript_support_level": null,
"aa_start": 388,
"aa_end": null,
"aa_length": 390,
"cds_start": 1163,
"cds_end": null,
"cds_length": 1173,
"cdna_start": 1519,
"cdna_end": null,
"cdna_length": 4553,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL5",
"gene_hgnc_id": 10872,
"hgvs_c": "c.1163G>T",
"hgvs_p": "p.Arg388Leu",
"transcript": "NM_001354229.2",
"protein_id": "NP_001341158.1",
"transcript_support_level": null,
"aa_start": 388,
"aa_end": null,
"aa_length": 390,
"cds_start": 1163,
"cds_end": null,
"cds_length": 1173,
"cdna_start": 1463,
"cdna_end": null,
"cdna_length": 4497,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL5",
"gene_hgnc_id": 10872,
"hgvs_c": "c.1163G>T",
"hgvs_p": "p.Arg388Leu",
"transcript": "NM_001354238.1",
"protein_id": "NP_001341167.1",
"transcript_support_level": null,
"aa_start": 388,
"aa_end": null,
"aa_length": 390,
"cds_start": 1163,
"cds_end": null,
"cds_length": 1173,
"cdna_start": 1308,
"cdna_end": null,
"cdna_length": 2329,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL5",
"gene_hgnc_id": 10872,
"hgvs_c": "c.1163G>T",
"hgvs_p": "p.Arg388Leu",
"transcript": "ENST00000638986.1",
"protein_id": "ENSP00000491853.1",
"transcript_support_level": 5,
"aa_start": 388,
"aa_end": null,
"aa_length": 390,
"cds_start": 1163,
"cds_end": null,
"cds_length": 1173,
"cdna_start": 1383,
"cdna_end": null,
"cdna_length": 2331,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL5",
"gene_hgnc_id": 10872,
"hgvs_c": "c.1163G>T",
"hgvs_p": "p.Arg388Leu",
"transcript": "ENST00000639432.1",
"protein_id": "ENSP00000491828.1",
"transcript_support_level": 5,
"aa_start": 388,
"aa_end": null,
"aa_length": 390,
"cds_start": 1163,
"cds_end": null,
"cds_length": 1173,
"cdna_start": 1339,
"cdna_end": null,
"cdna_length": 2297,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL5",
"gene_hgnc_id": 10872,
"hgvs_c": "c.1163G>T",
"hgvs_p": "p.Arg388Leu",
"transcript": "ENST00000640322.1",
"protein_id": "ENSP00000491564.1",
"transcript_support_level": 5,
"aa_start": 388,
"aa_end": null,
"aa_length": 390,
"cds_start": 1163,
"cds_end": null,
"cds_length": 1173,
"cdna_start": 1364,
"cdna_end": null,
"cdna_length": 2368,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL5",
"gene_hgnc_id": 10872,
"hgvs_c": "c.1163G>T",
"hgvs_p": "p.Arg388Leu",
"transcript": "ENST00000640982.1",
"protein_id": "ENSP00000492299.1",
"transcript_support_level": 5,
"aa_start": 388,
"aa_end": null,
"aa_length": 390,
"cds_start": 1163,
"cds_end": null,
"cds_length": 1173,
"cdna_start": 1507,
"cdna_end": null,
"cdna_length": 2465,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL5",
"gene_hgnc_id": 10872,
"hgvs_c": "c.1163G>T",
"hgvs_p": "p.Arg388Leu",
"transcript": "ENST00000640992.1",
"protein_id": "ENSP00000492753.1",
"transcript_support_level": 5,
"aa_start": 388,
"aa_end": null,
"aa_length": 390,
"cds_start": 1163,
"cds_end": null,
"cds_length": 1173,
"cdna_start": 1334,
"cdna_end": null,
"cdna_length": 2292,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL5",
"gene_hgnc_id": 10872,
"hgvs_c": "c.1127G>T",
"hgvs_p": "p.Arg376Leu",
"transcript": "ENST00000377332.8",
"protein_id": "ENSP00000366549.4",
"transcript_support_level": 5,
"aa_start": 376,
"aa_end": null,
"aa_length": 378,
"cds_start": 1127,
"cds_end": null,
"cds_length": 1137,
"cdna_start": 1180,
"cdna_end": null,
"cdna_length": 2165,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL5",
"gene_hgnc_id": 10872,
"hgvs_c": "c.1088G>T",
"hgvs_p": "p.Arg363Leu",
"transcript": "NM_001363847.1",
"protein_id": "NP_001350776.1",
"transcript_support_level": null,
"aa_start": 363,
"aa_end": null,
"aa_length": 365,
"cds_start": 1088,
"cds_end": null,
"cds_length": 1098,
"cdna_start": 1217,
"cdna_end": null,
"cdna_length": 2238,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL5",
"gene_hgnc_id": 10872,
"hgvs_c": "c.1088G>T",
"hgvs_p": "p.Arg363Leu",
"transcript": "ENST00000639119.1",
"protein_id": "ENSP00000492045.1",
"transcript_support_level": 5,
"aa_start": 363,
"aa_end": null,
"aa_length": 365,
"cds_start": 1088,
"cds_end": null,
"cds_length": 1098,
"cdna_start": 1146,
"cdna_end": null,
"cdna_length": 2131,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL5",
"gene_hgnc_id": 10872,
"hgvs_c": "c.1004G>T",
"hgvs_p": "p.Arg335Leu",
"transcript": "ENST00000638178.1",
"protein_id": "ENSP00000492103.1",
"transcript_support_level": 5,
"aa_start": 335,
"aa_end": null,
"aa_length": 337,
"cds_start": 1004,
"cds_end": null,
"cds_length": 1014,
"cdna_start": 1084,
"cdna_end": null,
"cdna_length": 2034,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL5",
"gene_hgnc_id": 10872,
"hgvs_c": "c.863G>T",
"hgvs_p": "p.Arg288Leu",
"transcript": "NM_001354223.2",
"protein_id": "NP_001341152.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 290,
"cds_start": 863,
"cds_end": null,
"cds_length": 873,
"cdna_start": 1910,
"cdna_end": null,
"cdna_length": 4944,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL5",
"gene_hgnc_id": 10872,
"hgvs_c": "c.863G>T",
"hgvs_p": "p.Arg288Leu",
"transcript": "NM_001354224.2",
"protein_id": "NP_001341153.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 290,
"cds_start": 863,
"cds_end": null,
"cds_length": 873,
"cdna_start": 1572,
"cdna_end": null,
"cdna_length": 4606,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL5",
"gene_hgnc_id": 10872,
"hgvs_c": "c.863G>T",
"hgvs_p": "p.Arg288Leu",
"transcript": "NM_001354226.2",
"protein_id": "NP_001341155.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 290,
"cds_start": 863,
"cds_end": null,
"cds_length": 873,
"cdna_start": 1509,
"cdna_end": null,
"cdna_length": 4543,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL5",
"gene_hgnc_id": 10872,
"hgvs_c": "c.863G>T",
"hgvs_p": "p.Arg288Leu",
"transcript": "NM_001354233.2",
"protein_id": "NP_001341162.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 290,
"cds_start": 863,
"cds_end": null,
"cds_length": 873,
"cdna_start": 1949,
"cdna_end": null,
"cdna_length": 4983,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL5",
"gene_hgnc_id": 10872,
"hgvs_c": "c.863G>T",
"hgvs_p": "p.Arg288Leu",
"transcript": "NM_001354234.1",
"protein_id": "NP_001341163.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 290,
"cds_start": 863,
"cds_end": null,
"cds_length": 873,
"cdna_start": 1886,
"cdna_end": null,
"cdna_length": 2907,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL5",
"gene_hgnc_id": 10872,
"hgvs_c": "c.863G>T",
"hgvs_p": "p.Arg288Leu",
"transcript": "NM_001354248.1",
"protein_id": "NP_001341177.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 290,
"cds_start": 863,
"cds_end": null,
"cds_length": 873,
"cdna_start": 2681,
"cdna_end": null,
"cdna_length": 3702,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL5",
"gene_hgnc_id": 10872,
"hgvs_c": "c.524G>T",
"hgvs_p": "p.Arg175Leu",
"transcript": "NM_001354247.1",
"protein_id": "NP_001341176.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 177,
"cds_start": 524,
"cds_end": null,
"cds_length": 534,
"cdna_start": 3043,
"cdna_end": null,
"cdna_length": 4064,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL5",
"gene_hgnc_id": 10872,
"hgvs_c": "c.1163G>T",
"hgvs_p": "p.Arg388Leu",
"transcript": "XM_047446237.1",
"protein_id": "XP_047302193.1",
"transcript_support_level": null,
"aa_start": 388,
"aa_end": null,
"aa_length": 390,
"cds_start": 1163,
"cds_end": null,
"cds_length": 1173,
"cdna_start": 1495,
"cdna_end": null,
"cdna_length": 4529,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL5",
"gene_hgnc_id": 10872,
"hgvs_c": "c.992G>T",
"hgvs_p": "p.Arg331Leu",
"transcript": "XM_047446238.1",
"protein_id": "XP_047302194.1",
"transcript_support_level": null,
"aa_start": 331,
"aa_end": null,
"aa_length": 333,
"cds_start": 992,
"cds_end": null,
"cds_length": 1002,
"cdna_start": 1383,
"cdna_end": null,
"cdna_length": 4417,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL5",
"gene_hgnc_id": 10872,
"hgvs_c": "c.992G>T",
"hgvs_p": "p.Arg331Leu",
"transcript": "XM_047446239.1",
"protein_id": "XP_047302195.1",
"transcript_support_level": null,
"aa_start": 331,
"aa_end": null,
"aa_length": 333,
"cds_start": 992,
"cds_end": null,
"cds_length": 1002,
"cdna_start": 1119,
"cdna_end": null,
"cdna_length": 4153,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL5",
"gene_hgnc_id": 10872,
"hgvs_c": "c.992G>T",
"hgvs_p": "p.Arg331Leu",
"transcript": "XM_047446240.1",
"protein_id": "XP_047302196.1",
"transcript_support_level": null,
"aa_start": 331,
"aa_end": null,
"aa_length": 333,
"cds_start": 992,
"cds_end": null,
"cds_length": 1002,
"cdna_start": 1196,
"cdna_end": null,
"cdna_length": 4230,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL5",
"gene_hgnc_id": 10872,
"hgvs_c": "n.*1290G>T",
"hgvs_p": null,
"transcript": "ENST00000638227.1",
"protein_id": "ENSP00000492602.1",
"transcript_support_level": 5,
"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": 2489,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL5",
"gene_hgnc_id": 10872,
"hgvs_c": "n.*1411G>T",
"hgvs_p": null,
"transcript": "ENST00000638288.1",
"protein_id": "ENSP00000491699.1",
"transcript_support_level": 5,
"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": 2995,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": "ST3GAL5",
"gene_hgnc_id": 10872,
"hgvs_c": "n.*946G>T",
"hgvs_p": null,
"transcript": "ENST00000638321.1",
"protein_id": "ENSP00000491084.1",
"transcript_support_level": 5,
"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": 2140,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL5",
"gene_hgnc_id": 10872,
"hgvs_c": "n.*1467G>T",
"hgvs_p": null,
"transcript": "ENST00000638484.1",
"protein_id": "ENSP00000492635.1",
"transcript_support_level": 5,
"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": 2622,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL5",
"gene_hgnc_id": 10872,
"hgvs_c": "n.*1588G>T",
"hgvs_p": null,
"transcript": "ENST00000638523.1",
"protein_id": "ENSP00000491664.1",
"transcript_support_level": 5,
"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": 2173,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": "ST3GAL5",
"gene_hgnc_id": 10872,
"hgvs_c": "n.*707G>T",
"hgvs_p": null,
"transcript": "ENST00000638542.1",
"protein_id": "ENSP00000492468.1",
"transcript_support_level": 5,
"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": 2168,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": "ST3GAL5",
"gene_hgnc_id": 10872,
"hgvs_c": "n.1114G>T",
"hgvs_p": null,
"transcript": "ENST00000638581.1",
"protein_id": null,
"transcript_support_level": 5,
"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": 1203,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL5",
"gene_hgnc_id": 10872,
"hgvs_c": "n.*1170G>T",
"hgvs_p": null,
"transcript": "ENST00000638659.1",
"protein_id": "ENSP00000491395.1",
"transcript_support_level": 5,
"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": 2298,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL5",
"gene_hgnc_id": 10872,
"hgvs_c": "n.*412G>T",
"hgvs_p": null,
"transcript": "ENST00000638678.1",
"protein_id": "ENSP00000492847.1",
"transcript_support_level": 5,
"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": 2064,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": "ST3GAL5",
"gene_hgnc_id": 10872,
"hgvs_c": "n.*685G>T",
"hgvs_p": null,
"transcript": "ENST00000638855.1",
"protein_id": "ENSP00000490979.1",
"transcript_support_level": 5,
"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": 2180,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL5",
"gene_hgnc_id": 10872,
"hgvs_c": "n.*1266G>T",
"hgvs_p": null,
"transcript": "ENST00000638885.1",
"protein_id": "ENSP00000492209.1",
"transcript_support_level": 5,
"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": 2597,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL5",
"gene_hgnc_id": 10872,
"hgvs_c": "n.*1519G>T",
"hgvs_p": null,
"transcript": "ENST00000638956.1",
"protein_id": "ENSP00000492097.1",
"transcript_support_level": 5,
"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": 2940,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL5",
"gene_hgnc_id": 10872,
"hgvs_c": "n.3520G>T",
"hgvs_p": null,
"transcript": "ENST00000639074.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 4478,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL5",
"gene_hgnc_id": 10872,
"hgvs_c": "n.*1411G>T",
"hgvs_p": null,
"transcript": "ENST00000639184.1",
"protein_id": "ENSP00000492305.1",
"transcript_support_level": 5,
"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": 2844,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL5",
"gene_hgnc_id": 10872,
"hgvs_c": "n.1130G>T",
"hgvs_p": null,
"transcript": "ENST00000639216.1",
"protein_id": null,
"transcript_support_level": 5,
"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": 1643,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL5",
"gene_hgnc_id": 10872,
"hgvs_c": "n.*1037G>T",
"hgvs_p": null,
"transcript": "ENST00000639311.1",
"protein_id": "ENSP00000491398.1",
"transcript_support_level": 5,
"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": 2347,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL5",
"gene_hgnc_id": 10872,
"hgvs_c": "n.*1603G>T",
"hgvs_p": null,
"transcript": "ENST00000639541.1",
"protein_id": "ENSP00000492280.1",
"transcript_support_level": 5,
"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": 2967,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL5",
"gene_hgnc_id": 10872,
"hgvs_c": "n.*1085G>T",
"hgvs_p": null,
"transcript": "ENST00000639608.1",
"protein_id": "ENSP00000492473.1",
"transcript_support_level": 5,
"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": 2457,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": "ST3GAL5",
"gene_hgnc_id": 10872,
"hgvs_c": "n.4958G>T",
"hgvs_p": null,
"transcript": "ENST00000639743.1",
"protein_id": null,
"transcript_support_level": 5,
"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": 5918,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL5",
"gene_hgnc_id": 10872,
"hgvs_c": "n.*1681G>T",
"hgvs_p": null,
"transcript": "ENST00000639820.1",
"protein_id": "ENSP00000491802.1",
"transcript_support_level": 5,
"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": 2837,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL5",
"gene_hgnc_id": 10872,
"hgvs_c": "n.3654G>T",
"hgvs_p": null,
"transcript": "ENST00000639867.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 6180,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL5",
"gene_hgnc_id": 10872,
"hgvs_c": "n.*1163G>T",
"hgvs_p": null,
"transcript": "ENST00000639945.1",
"protein_id": "ENSP00000492866.1",
"transcript_support_level": 5,
"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": 2434,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": "ST3GAL5",
"gene_hgnc_id": 10872,
"hgvs_c": "n.*1065G>T",
"hgvs_p": null,
"transcript": "ENST00000639981.1",
"protein_id": "ENSP00000491172.1",
"transcript_support_level": 5,
"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": 2318,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL5",
"gene_hgnc_id": 10872,
"hgvs_c": "n.*1411G>T",
"hgvs_p": null,
"transcript": "ENST00000640024.1",
"protein_id": "ENSP00000491238.1",
"transcript_support_level": 5,
"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": 2848,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL5",
"gene_hgnc_id": 10872,
"hgvs_c": "n.*846G>T",
"hgvs_p": null,
"transcript": "ENST00000640222.1",
"protein_id": "ENSP00000492035.1",
"transcript_support_level": 5,
"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": 2356,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL5",
"gene_hgnc_id": 10872,
"hgvs_c": "n.*1308G>T",
"hgvs_p": null,
"transcript": "ENST00000640295.1",
"protein_id": "ENSP00000491027.1",
"transcript_support_level": 5,
"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": 2410,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL5",
"gene_hgnc_id": 10872,
"hgvs_c": "n.*1137G>T",
"hgvs_p": null,
"transcript": "ENST00000640314.1",
"protein_id": "ENSP00000491315.1",
"transcript_support_level": 5,
"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": 2129,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL5",
"gene_hgnc_id": 10872,
"hgvs_c": "n.*669G>T",
"hgvs_p": null,
"transcript": "ENST00000640425.1",
"protein_id": "ENSP00000492459.1",
"transcript_support_level": 5,
"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": 2369,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL5",
"gene_hgnc_id": 10872,
"hgvs_c": "n.2764G>T",
"hgvs_p": null,
"transcript": "ENST00000640453.1",
"protein_id": null,
"transcript_support_level": 5,
"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": 3722,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL5",
"gene_hgnc_id": 10872,
"hgvs_c": "n.*874G>T",
"hgvs_p": null,
"transcript": "ENST00000640572.1",
"protein_id": "ENSP00000491880.1",
"transcript_support_level": 5,
"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": 2169,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": "ST3GAL5",
"gene_hgnc_id": 10872,
"hgvs_c": "n.*944G>T",
"hgvs_p": null,
"transcript": "ENST00000640594.1",
"protein_id": "ENSP00000491356.1",
"transcript_support_level": 5,
"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": 2095,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL5",
"gene_hgnc_id": 10872,
"hgvs_c": "n.3595G>T",
"hgvs_p": null,
"transcript": "ENST00000640712.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 4598,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL5",
"gene_hgnc_id": 10872,
"hgvs_c": "n.*3434G>T",
"hgvs_p": null,
"transcript": "ENST00000640763.1",
"protein_id": "ENSP00000491495.1",
"transcript_support_level": 5,
"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": 4594,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL5",
"gene_hgnc_id": 10872,
"hgvs_c": "n.3043G>T",
"hgvs_p": null,
"transcript": "ENST00000640798.1",
"protein_id": null,
"transcript_support_level": 5,
"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": 4001,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL5",
"gene_hgnc_id": 10872,
"hgvs_c": "n.*739G>T",
"hgvs_p": null,
"transcript": "ENST00000640835.1",
"protein_id": "ENSP00000491038.1",
"transcript_support_level": 5,
"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": 1300,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL5",
"gene_hgnc_id": 10872,
"hgvs_c": "n.*1471G>T",
"hgvs_p": null,
"transcript": "ENST00000640903.1",
"protein_id": "ENSP00000491443.1",
"transcript_support_level": 5,
"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": 2405,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"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": "ST3GAL5",
"gene_hgnc_id": 10872,
"hgvs_c": "c.*253G>T",
"hgvs_p": null,
"transcript": "ENST00000640315.1",
"protein_id": "ENSP00000492089.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 223,
"cds_start": -4,
"cds_end": null,
"cds_length": 672,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1890,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL5",
"gene_hgnc_id": 10872,
"hgvs_c": "n.*1290G>T",
"hgvs_p": null,
"transcript": "ENST00000638227.1",
"protein_id": "ENSP00000492602.1",
"transcript_support_level": 5,
"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": 2489,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL5",
"gene_hgnc_id": 10872,
"hgvs_c": "n.*1411G>T",
"hgvs_p": null,
"transcript": "ENST00000638288.1",
"protein_id": "ENSP00000491699.1",
"transcript_support_level": 5,
"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": 2995,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": "ST3GAL5",
"gene_hgnc_id": 10872,
"hgvs_c": "n.*946G>T",
"hgvs_p": null,
"transcript": "ENST00000638321.1",
"protein_id": "ENSP00000491084.1",
"transcript_support_level": 5,
"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": 2140,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL5",
"gene_hgnc_id": 10872,
"hgvs_c": "n.*1467G>T",
"hgvs_p": null,
"transcript": "ENST00000638484.1",
"protein_id": "ENSP00000492635.1",
"transcript_support_level": 5,
"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": 2622,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL5",
"gene_hgnc_id": 10872,
"hgvs_c": "n.*1588G>T",
"hgvs_p": null,
"transcript": "ENST00000638523.1",
"protein_id": "ENSP00000491664.1",
"transcript_support_level": 5,
"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": 2173,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": "ST3GAL5",
"gene_hgnc_id": 10872,
"hgvs_c": "n.*707G>T",
"hgvs_p": null,
"transcript": "ENST00000638542.1",
"protein_id": "ENSP00000492468.1",
"transcript_support_level": 5,
"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": 2168,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL5",
"gene_hgnc_id": 10872,
"hgvs_c": "n.*1170G>T",
"hgvs_p": null,
"transcript": "ENST00000638659.1",
"protein_id": "ENSP00000491395.1",
"transcript_support_level": 5,
"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": 2298,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL5",
"gene_hgnc_id": 10872,
"hgvs_c": "n.*412G>T",
"hgvs_p": null,
"transcript": "ENST00000638678.1",
"protein_id": "ENSP00000492847.1",
"transcript_support_level": 5,
"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": 2064,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": "ST3GAL5",
"gene_hgnc_id": 10872,
"hgvs_c": "n.*685G>T",
"hgvs_p": null,
"transcript": "ENST00000638855.1",
"protein_id": "ENSP00000490979.1",
"transcript_support_level": 5,
"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": 2180,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL5",
"gene_hgnc_id": 10872,
"hgvs_c": "n.*1266G>T",
"hgvs_p": null,
"transcript": "ENST00000638885.1",
"protein_id": "ENSP00000492209.1",
"transcript_support_level": 5,
"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": 2597,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL5",
"gene_hgnc_id": 10872,
"hgvs_c": "n.*1519G>T",
"hgvs_p": null,
"transcript": "ENST00000638956.1",
"protein_id": "ENSP00000492097.1",
"transcript_support_level": 5,
"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": 2940,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL5",
"gene_hgnc_id": 10872,
"hgvs_c": "n.*1411G>T",
"hgvs_p": null,
"transcript": "ENST00000639184.1",
"protein_id": "ENSP00000492305.1",
"transcript_support_level": 5,
"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": 2844,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL5",
"gene_hgnc_id": 10872,
"hgvs_c": "n.*1037G>T",
"hgvs_p": null,
"transcript": "ENST00000639311.1",
"protein_id": "ENSP00000491398.1",
"transcript_support_level": 5,
"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": 2347,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL5",
"gene_hgnc_id": 10872,
"hgvs_c": "n.*1603G>T",
"hgvs_p": null,
"transcript": "ENST00000639541.1",
"protein_id": "ENSP00000492280.1",
"transcript_support_level": 5,
"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": 2967,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL5",
"gene_hgnc_id": 10872,
"hgvs_c": "n.*1085G>T",
"hgvs_p": null,
"transcript": "ENST00000639608.1",
"protein_id": "ENSP00000492473.1",
"transcript_support_level": 5,
"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": 2457,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL5",
"gene_hgnc_id": 10872,
"hgvs_c": "n.*1681G>T",
"hgvs_p": null,
"transcript": "ENST00000639820.1",
"protein_id": "ENSP00000491802.1",
"transcript_support_level": 5,
"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": 2837,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL5",
"gene_hgnc_id": 10872,
"hgvs_c": "n.*1163G>T",
"hgvs_p": null,
"transcript": "ENST00000639945.1",
"protein_id": "ENSP00000492866.1",
"transcript_support_level": 5,
"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": 2434,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": "ST3GAL5",
"gene_hgnc_id": 10872,
"hgvs_c": "n.*1065G>T",
"hgvs_p": null,
"transcript": "ENST00000639981.1",
"protein_id": "ENSP00000491172.1",
"transcript_support_level": 5,
"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": 2318,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL5",
"gene_hgnc_id": 10872,
"hgvs_c": "n.*1411G>T",
"hgvs_p": null,
"transcript": "ENST00000640024.1",
"protein_id": "ENSP00000491238.1",
"transcript_support_level": 5,
"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": 2848,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL5",
"gene_hgnc_id": 10872,
"hgvs_c": "n.*846G>T",
"hgvs_p": null,
"transcript": "ENST00000640222.1",
"protein_id": "ENSP00000492035.1",
"transcript_support_level": 5,
"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": 2356,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL5",
"gene_hgnc_id": 10872,
"hgvs_c": "n.*1308G>T",
"hgvs_p": null,
"transcript": "ENST00000640295.1",
"protein_id": "ENSP00000491027.1",
"transcript_support_level": 5,
"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": 2410,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL5",
"gene_hgnc_id": 10872,
"hgvs_c": "n.*1137G>T",
"hgvs_p": null,
"transcript": "ENST00000640314.1",
"protein_id": "ENSP00000491315.1",
"transcript_support_level": 5,
"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": 2129,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL5",
"gene_hgnc_id": 10872,
"hgvs_c": "n.*669G>T",
"hgvs_p": null,
"transcript": "ENST00000640425.1",
"protein_id": "ENSP00000492459.1",
"transcript_support_level": 5,
"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": 2369,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL5",
"gene_hgnc_id": 10872,
"hgvs_c": "n.*874G>T",
"hgvs_p": null,
"transcript": "ENST00000640572.1",
"protein_id": "ENSP00000491880.1",
"transcript_support_level": 5,
"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": 2169,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": "ST3GAL5",
"gene_hgnc_id": 10872,
"hgvs_c": "n.*944G>T",
"hgvs_p": null,
"transcript": "ENST00000640594.1",
"protein_id": "ENSP00000491356.1",
"transcript_support_level": 5,
"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": 2095,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL5",
"gene_hgnc_id": 10872,
"hgvs_c": "n.*3434G>T",
"hgvs_p": null,
"transcript": "ENST00000640763.1",
"protein_id": "ENSP00000491495.1",
"transcript_support_level": 5,
"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": 4594,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL5",
"gene_hgnc_id": 10872,
"hgvs_c": "n.*739G>T",
"hgvs_p": null,
"transcript": "ENST00000640835.1",
"protein_id": "ENSP00000491038.1",
"transcript_support_level": 5,
"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": 1300,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL5",
"gene_hgnc_id": 10872,
"hgvs_c": "n.*1471G>T",
"hgvs_p": null,
"transcript": "ENST00000640903.1",
"protein_id": "ENSP00000491443.1",
"transcript_support_level": 5,
"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": 2405,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL5",
"gene_hgnc_id": 10872,
"hgvs_c": "n.*564G>T",
"hgvs_p": null,
"transcript": "ENST00000639202.1",
"protein_id": "ENSP00000492710.1",
"transcript_support_level": 3,
"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": 582,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ST3GAL5",
"gene_hgnc_id": 10872,
"dbsnp": "rs200683924",
"frequency_reference_population": 0.0005935351,
"hom_count_reference_population": 1,
"allele_count_reference_population": 958,
"gnomad_exomes_af": 0.000630012,
"gnomad_genomes_af": 0.000243133,
"gnomad_exomes_ac": 921,
"gnomad_genomes_ac": 37,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.06388333439826965,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.112,
"revel_prediction": "Benign",
"alphamissense_score": 0.147,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.45,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.49,
"phylop100way_prediction": "Uncertain_significance",
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000638572.2",
"gene_symbol": "ST3GAL5",
"hgnc_id": 10872,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1247G>T",
"hgvs_p": "p.Arg416Leu"
}
],
"clinvar_disease": "GM3 synthase deficiency,Inborn genetic diseases,not provided,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:8 LB:1",
"phenotype_combined": "not specified|GM3 synthase deficiency|not provided|Inborn genetic diseases",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}