← 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: 9-92038289-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=92038289&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 92038289,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001281303.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTLC1",
"gene_hgnc_id": 11277,
"hgvs_c": "c.1213C>T",
"hgvs_p": "p.Arg405Cys",
"transcript": "NM_006415.4",
"protein_id": "NP_006406.1",
"transcript_support_level": null,
"aa_start": 405,
"aa_end": null,
"aa_length": 473,
"cds_start": 1213,
"cds_end": null,
"cds_length": 1422,
"cdna_start": 1256,
"cdna_end": null,
"cdna_length": 2783,
"mane_select": "ENST00000262554.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006415.4"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTLC1",
"gene_hgnc_id": 11277,
"hgvs_c": "c.1213C>T",
"hgvs_p": "p.Arg405Cys",
"transcript": "ENST00000262554.7",
"protein_id": "ENSP00000262554.2",
"transcript_support_level": 1,
"aa_start": 405,
"aa_end": null,
"aa_length": 473,
"cds_start": 1213,
"cds_end": null,
"cds_length": 1422,
"cdna_start": 1256,
"cdna_end": null,
"cdna_length": 2783,
"mane_select": "NM_006415.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000262554.7"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTLC1",
"gene_hgnc_id": 11277,
"hgvs_c": "c.1423C>T",
"hgvs_p": "p.Arg475Cys",
"transcript": "ENST00000953500.1",
"protein_id": "ENSP00000623559.1",
"transcript_support_level": null,
"aa_start": 475,
"aa_end": null,
"aa_length": 543,
"cds_start": 1423,
"cds_end": null,
"cds_length": 1632,
"cdna_start": 1446,
"cdna_end": null,
"cdna_length": 2972,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953500.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTLC1",
"gene_hgnc_id": 11277,
"hgvs_c": "c.1213C>T",
"hgvs_p": "p.Arg405Cys",
"transcript": "ENST00000884978.1",
"protein_id": "ENSP00000555037.1",
"transcript_support_level": null,
"aa_start": 405,
"aa_end": null,
"aa_length": 534,
"cds_start": 1213,
"cds_end": null,
"cds_length": 1605,
"cdna_start": 1228,
"cdna_end": null,
"cdna_length": 1970,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884978.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTLC1",
"gene_hgnc_id": 11277,
"hgvs_c": "c.1213C>T",
"hgvs_p": "p.Arg405Cys",
"transcript": "NM_001281303.2",
"protein_id": "NP_001268232.1",
"transcript_support_level": null,
"aa_start": 405,
"aa_end": null,
"aa_length": 513,
"cds_start": 1213,
"cds_end": null,
"cds_length": 1542,
"cdna_start": 1256,
"cdna_end": null,
"cdna_length": 2751,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001281303.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTLC1",
"gene_hgnc_id": 11277,
"hgvs_c": "c.1213C>T",
"hgvs_p": "p.Arg405Cys",
"transcript": "ENST00000686600.1",
"protein_id": "ENSP00000509268.1",
"transcript_support_level": null,
"aa_start": 405,
"aa_end": null,
"aa_length": 504,
"cds_start": 1213,
"cds_end": null,
"cds_length": 1515,
"cdna_start": 1235,
"cdna_end": null,
"cdna_length": 2968,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000686600.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTLC1",
"gene_hgnc_id": 11277,
"hgvs_c": "c.1273C>T",
"hgvs_p": "p.Arg425Cys",
"transcript": "ENST00000687972.1",
"protein_id": "ENSP00000509208.1",
"transcript_support_level": null,
"aa_start": 425,
"aa_end": null,
"aa_length": 493,
"cds_start": 1273,
"cds_end": null,
"cds_length": 1482,
"cdna_start": 1293,
"cdna_end": null,
"cdna_length": 2807,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000687972.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTLC1",
"gene_hgnc_id": 11277,
"hgvs_c": "c.1258C>T",
"hgvs_p": "p.Arg420Cys",
"transcript": "ENST00000953498.1",
"protein_id": "ENSP00000623557.1",
"transcript_support_level": null,
"aa_start": 420,
"aa_end": null,
"aa_length": 488,
"cds_start": 1258,
"cds_end": null,
"cds_length": 1467,
"cdna_start": 1281,
"cdna_end": null,
"cdna_length": 2809,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953498.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTLC1",
"gene_hgnc_id": 11277,
"hgvs_c": "c.1252C>T",
"hgvs_p": "p.Arg418Cys",
"transcript": "ENST00000953503.1",
"protein_id": "ENSP00000623562.1",
"transcript_support_level": null,
"aa_start": 418,
"aa_end": null,
"aa_length": 486,
"cds_start": 1252,
"cds_end": null,
"cds_length": 1461,
"cdna_start": 1267,
"cdna_end": null,
"cdna_length": 2793,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953503.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTLC1",
"gene_hgnc_id": 11277,
"hgvs_c": "c.1240C>T",
"hgvs_p": "p.Arg414Cys",
"transcript": "ENST00000884974.1",
"protein_id": "ENSP00000555033.1",
"transcript_support_level": null,
"aa_start": 414,
"aa_end": null,
"aa_length": 482,
"cds_start": 1240,
"cds_end": null,
"cds_length": 1449,
"cdna_start": 1276,
"cdna_end": null,
"cdna_length": 2803,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884974.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTLC1",
"gene_hgnc_id": 11277,
"hgvs_c": "c.1237C>T",
"hgvs_p": "p.Arg413Cys",
"transcript": "ENST00000884977.1",
"protein_id": "ENSP00000555036.1",
"transcript_support_level": null,
"aa_start": 413,
"aa_end": null,
"aa_length": 481,
"cds_start": 1237,
"cds_end": null,
"cds_length": 1446,
"cdna_start": 1245,
"cdna_end": null,
"cdna_length": 2772,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884977.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTLC1",
"gene_hgnc_id": 11277,
"hgvs_c": "c.1234C>T",
"hgvs_p": "p.Arg412Cys",
"transcript": "ENST00000953501.1",
"protein_id": "ENSP00000623560.1",
"transcript_support_level": null,
"aa_start": 412,
"aa_end": null,
"aa_length": 480,
"cds_start": 1234,
"cds_end": null,
"cds_length": 1443,
"cdna_start": 1245,
"cdna_end": null,
"cdna_length": 2778,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953501.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTLC1",
"gene_hgnc_id": 11277,
"hgvs_c": "c.1207C>T",
"hgvs_p": "p.Arg403Cys",
"transcript": "ENST00000913243.1",
"protein_id": "ENSP00000583302.1",
"transcript_support_level": null,
"aa_start": 403,
"aa_end": null,
"aa_length": 471,
"cds_start": 1207,
"cds_end": null,
"cds_length": 1416,
"cdna_start": 1250,
"cdna_end": null,
"cdna_length": 2777,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913243.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTLC1",
"gene_hgnc_id": 11277,
"hgvs_c": "c.1201C>T",
"hgvs_p": "p.Arg401Cys",
"transcript": "ENST00000913242.1",
"protein_id": "ENSP00000583301.1",
"transcript_support_level": null,
"aa_start": 401,
"aa_end": null,
"aa_length": 469,
"cds_start": 1201,
"cds_end": null,
"cds_length": 1410,
"cdna_start": 1238,
"cdna_end": null,
"cdna_length": 2774,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913242.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTLC1",
"gene_hgnc_id": 11277,
"hgvs_c": "c.1195C>T",
"hgvs_p": "p.Arg399Cys",
"transcript": "ENST00000953502.1",
"protein_id": "ENSP00000623561.1",
"transcript_support_level": null,
"aa_start": 399,
"aa_end": null,
"aa_length": 467,
"cds_start": 1195,
"cds_end": null,
"cds_length": 1404,
"cdna_start": 1213,
"cdna_end": null,
"cdna_length": 2737,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953502.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTLC1",
"gene_hgnc_id": 11277,
"hgvs_c": "c.1123C>T",
"hgvs_p": "p.Arg375Cys",
"transcript": "ENST00000884973.1",
"protein_id": "ENSP00000555032.1",
"transcript_support_level": null,
"aa_start": 375,
"aa_end": null,
"aa_length": 443,
"cds_start": 1123,
"cds_end": null,
"cds_length": 1332,
"cdna_start": 1186,
"cdna_end": null,
"cdna_length": 2714,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884973.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTLC1",
"gene_hgnc_id": 11277,
"hgvs_c": "c.1105C>T",
"hgvs_p": "p.Arg369Cys",
"transcript": "ENST00000884976.1",
"protein_id": "ENSP00000555035.1",
"transcript_support_level": null,
"aa_start": 369,
"aa_end": null,
"aa_length": 437,
"cds_start": 1105,
"cds_end": null,
"cds_length": 1314,
"cdna_start": 1130,
"cdna_end": null,
"cdna_length": 2658,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884976.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"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": "SPTLC1",
"gene_hgnc_id": 11277,
"hgvs_c": "c.857C>T",
"hgvs_p": "p.Ser286Leu",
"transcript": "ENST00000913245.1",
"protein_id": "ENSP00000583304.1",
"transcript_support_level": null,
"aa_start": 286,
"aa_end": null,
"aa_length": 430,
"cds_start": 857,
"cds_end": null,
"cds_length": 1293,
"cdna_start": 874,
"cdna_end": null,
"cdna_length": 2628,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913245.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTLC1",
"gene_hgnc_id": 11277,
"hgvs_c": "c.913C>T",
"hgvs_p": "p.Arg305Cys",
"transcript": "ENST00000884975.1",
"protein_id": "ENSP00000555034.1",
"transcript_support_level": null,
"aa_start": 305,
"aa_end": null,
"aa_length": 373,
"cds_start": 913,
"cds_end": null,
"cds_length": 1122,
"cdna_start": 949,
"cdna_end": null,
"cdna_length": 2476,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884975.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTLC1",
"gene_hgnc_id": 11277,
"hgvs_c": "c.847C>T",
"hgvs_p": "p.Arg283Cys",
"transcript": "NM_001368272.1",
"protein_id": "NP_001355201.1",
"transcript_support_level": null,
"aa_start": 283,
"aa_end": null,
"aa_length": 351,
"cds_start": 847,
"cds_end": null,
"cds_length": 1056,
"cdna_start": 1389,
"cdna_end": null,
"cdna_length": 2916,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001368272.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTLC1",
"gene_hgnc_id": 11277,
"hgvs_c": "c.748C>T",
"hgvs_p": "p.Arg250Cys",
"transcript": "NM_001368273.1",
"protein_id": "NP_001355202.1",
"transcript_support_level": null,
"aa_start": 250,
"aa_end": null,
"aa_length": 318,
"cds_start": 748,
"cds_end": null,
"cds_length": 957,
"cdna_start": 1401,
"cdna_end": null,
"cdna_length": 2928,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001368273.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTLC1",
"gene_hgnc_id": 11277,
"hgvs_c": "c.1030C>T",
"hgvs_p": "p.Arg344Cys",
"transcript": "XM_047422638.1",
"protein_id": "XP_047278594.1",
"transcript_support_level": null,
"aa_start": 344,
"aa_end": null,
"aa_length": 412,
"cds_start": 1030,
"cds_end": null,
"cds_length": 1239,
"cdna_start": 1115,
"cdna_end": null,
"cdna_length": 2642,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047422638.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTLC1",
"gene_hgnc_id": 11277,
"hgvs_c": "c.832C>T",
"hgvs_p": "p.Arg278Cys",
"transcript": "XM_047422639.1",
"protein_id": "XP_047278595.1",
"transcript_support_level": null,
"aa_start": 278,
"aa_end": null,
"aa_length": 346,
"cds_start": 832,
"cds_end": null,
"cds_length": 1041,
"cdna_start": 7193,
"cdna_end": null,
"cdna_length": 8720,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047422639.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTLC1",
"gene_hgnc_id": 11277,
"hgvs_c": "c.748C>T",
"hgvs_p": "p.Arg250Cys",
"transcript": "XM_024447378.2",
"protein_id": "XP_024303146.1",
"transcript_support_level": null,
"aa_start": 250,
"aa_end": null,
"aa_length": 318,
"cds_start": 748,
"cds_end": null,
"cds_length": 957,
"cdna_start": 965,
"cdna_end": null,
"cdna_length": 2492,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024447378.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTLC1",
"gene_hgnc_id": 11277,
"hgvs_c": "c.748C>T",
"hgvs_p": "p.Arg250Cys",
"transcript": "XM_024447379.2",
"protein_id": "XP_024303147.1",
"transcript_support_level": null,
"aa_start": 250,
"aa_end": null,
"aa_length": 318,
"cds_start": 748,
"cds_end": null,
"cds_length": 957,
"cdna_start": 1000,
"cdna_end": null,
"cdna_length": 2527,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024447379.2"
},
{
"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": 13,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "SPTLC1",
"gene_hgnc_id": 11277,
"hgvs_c": "c.1137-5731C>T",
"hgvs_p": null,
"transcript": "ENST00000953499.1",
"protein_id": "ENSP00000623558.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 409,
"cds_start": null,
"cds_end": null,
"cds_length": 1230,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2571,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953499.1"
},
{
"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": 9,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "SPTLC1",
"gene_hgnc_id": 11277,
"hgvs_c": "c.691-3406C>T",
"hgvs_p": null,
"transcript": "ENST00000913244.1",
"protein_id": "ENSP00000583303.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 285,
"cds_start": null,
"cds_end": null,
"cds_length": 858,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2193,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913244.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTLC1",
"gene_hgnc_id": 11277,
"hgvs_c": "n.170C>T",
"hgvs_p": null,
"transcript": "ENST00000469778.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 490,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000469778.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTLC1",
"gene_hgnc_id": 11277,
"hgvs_c": "n.1623C>T",
"hgvs_p": null,
"transcript": "ENST00000482632.6",
"protein_id": null,
"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": 1738,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000482632.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTLC1",
"gene_hgnc_id": 11277,
"hgvs_c": "n.*1445C>T",
"hgvs_p": null,
"transcript": "ENST00000642671.1",
"protein_id": "ENSP00000495764.1",
"transcript_support_level": null,
"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": 2289,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000642671.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTLC1",
"gene_hgnc_id": 11277,
"hgvs_c": "n.*1212C>T",
"hgvs_p": null,
"transcript": "ENST00000643599.1",
"protein_id": "ENSP00000494770.1",
"transcript_support_level": null,
"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": 2042,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000643599.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTLC1",
"gene_hgnc_id": 11277,
"hgvs_c": "n.*954C>T",
"hgvs_p": null,
"transcript": "ENST00000644140.1",
"protein_id": "ENSP00000493933.1",
"transcript_support_level": null,
"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": 2792,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000644140.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTLC1",
"gene_hgnc_id": 11277,
"hgvs_c": "n.*1076C>T",
"hgvs_p": null,
"transcript": "ENST00000646481.1",
"protein_id": "ENSP00000496627.1",
"transcript_support_level": null,
"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": 1727,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000646481.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTLC1",
"gene_hgnc_id": 11277,
"hgvs_c": "n.*1016C>T",
"hgvs_p": null,
"transcript": "ENST00000646534.1",
"protein_id": "ENSP00000495388.1",
"transcript_support_level": null,
"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": 2982,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000646534.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTLC1",
"gene_hgnc_id": 11277,
"hgvs_c": "n.1310C>T",
"hgvs_p": null,
"transcript": "ENST00000686799.1",
"protein_id": null,
"transcript_support_level": null,
"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": 3043,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000686799.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTLC1",
"gene_hgnc_id": 11277,
"hgvs_c": "n.1213C>T",
"hgvs_p": null,
"transcript": "ENST00000687427.1",
"protein_id": "ENSP00000509426.1",
"transcript_support_level": null,
"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": 3022,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000687427.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTLC1",
"gene_hgnc_id": 11277,
"hgvs_c": "n.*1360C>T",
"hgvs_p": null,
"transcript": "ENST00000687817.1",
"protein_id": "ENSP00000508926.1",
"transcript_support_level": null,
"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": 4920,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000687817.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTLC1",
"gene_hgnc_id": 11277,
"hgvs_c": "n.1120C>T",
"hgvs_p": null,
"transcript": "ENST00000689261.1",
"protein_id": null,
"transcript_support_level": null,
"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": 2651,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000689261.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTLC1",
"gene_hgnc_id": 11277,
"hgvs_c": "n.*1463C>T",
"hgvs_p": null,
"transcript": "ENST00000689401.1",
"protein_id": "ENSP00000510251.1",
"transcript_support_level": null,
"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": 3110,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000689401.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTLC1",
"gene_hgnc_id": 11277,
"hgvs_c": "n.*1463C>T",
"hgvs_p": null,
"transcript": "ENST00000689423.1",
"protein_id": "ENSP00000508519.1",
"transcript_support_level": null,
"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": 1721,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000689423.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTLC1",
"gene_hgnc_id": 11277,
"hgvs_c": "n.1601C>T",
"hgvs_p": null,
"transcript": "ENST00000690095.1",
"protein_id": null,
"transcript_support_level": null,
"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": 3132,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000690095.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTLC1",
"gene_hgnc_id": 11277,
"hgvs_c": "n.*914C>T",
"hgvs_p": null,
"transcript": "ENST00000690139.1",
"protein_id": "ENSP00000510483.1",
"transcript_support_level": null,
"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": 2892,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000690139.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTLC1",
"gene_hgnc_id": 11277,
"hgvs_c": "n.1580C>T",
"hgvs_p": null,
"transcript": "ENST00000692458.1",
"protein_id": null,
"transcript_support_level": null,
"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": 2810,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000692458.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTLC1",
"gene_hgnc_id": 11277,
"hgvs_c": "n.*1229C>T",
"hgvs_p": null,
"transcript": "ENST00000693147.1",
"protein_id": "ENSP00000510358.1",
"transcript_support_level": null,
"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": 1511,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000693147.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTLC1",
"gene_hgnc_id": 11277,
"hgvs_c": "n.*1445C>T",
"hgvs_p": null,
"transcript": "ENST00000642671.1",
"protein_id": "ENSP00000495764.1",
"transcript_support_level": null,
"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": 2289,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000642671.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTLC1",
"gene_hgnc_id": 11277,
"hgvs_c": "n.*1212C>T",
"hgvs_p": null,
"transcript": "ENST00000643599.1",
"protein_id": "ENSP00000494770.1",
"transcript_support_level": null,
"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": 2042,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000643599.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTLC1",
"gene_hgnc_id": 11277,
"hgvs_c": "n.*954C>T",
"hgvs_p": null,
"transcript": "ENST00000644140.1",
"protein_id": "ENSP00000493933.1",
"transcript_support_level": null,
"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": 2792,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000644140.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTLC1",
"gene_hgnc_id": 11277,
"hgvs_c": "n.*1076C>T",
"hgvs_p": null,
"transcript": "ENST00000646481.1",
"protein_id": "ENSP00000496627.1",
"transcript_support_level": null,
"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": 1727,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000646481.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTLC1",
"gene_hgnc_id": 11277,
"hgvs_c": "n.*1016C>T",
"hgvs_p": null,
"transcript": "ENST00000646534.1",
"protein_id": "ENSP00000495388.1",
"transcript_support_level": null,
"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": 2982,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000646534.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTLC1",
"gene_hgnc_id": 11277,
"hgvs_c": "n.*1360C>T",
"hgvs_p": null,
"transcript": "ENST00000687817.1",
"protein_id": "ENSP00000508926.1",
"transcript_support_level": null,
"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": 4920,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000687817.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTLC1",
"gene_hgnc_id": 11277,
"hgvs_c": "n.*1463C>T",
"hgvs_p": null,
"transcript": "ENST00000689401.1",
"protein_id": "ENSP00000510251.1",
"transcript_support_level": null,
"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": 3110,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000689401.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTLC1",
"gene_hgnc_id": 11277,
"hgvs_c": "n.*1463C>T",
"hgvs_p": null,
"transcript": "ENST00000689423.1",
"protein_id": "ENSP00000508519.1",
"transcript_support_level": null,
"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": 1721,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000689423.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTLC1",
"gene_hgnc_id": 11277,
"hgvs_c": "n.*914C>T",
"hgvs_p": null,
"transcript": "ENST00000690139.1",
"protein_id": "ENSP00000510483.1",
"transcript_support_level": null,
"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": 2892,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000690139.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTLC1",
"gene_hgnc_id": 11277,
"hgvs_c": "n.*1229C>T",
"hgvs_p": null,
"transcript": "ENST00000693147.1",
"protein_id": "ENSP00000510358.1",
"transcript_support_level": null,
"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": 1511,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000693147.1"
}
],
"gene_symbol": "SPTLC1",
"gene_hgnc_id": 11277,
"dbsnp": "rs745684683",
"frequency_reference_population": 0.000026022111,
"hom_count_reference_population": 0,
"allele_count_reference_population": 42,
"gnomad_exomes_af": 0.0000239426,
"gnomad_genomes_af": 0.000045997,
"gnomad_exomes_ac": 35,
"gnomad_genomes_ac": 7,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8143187761306763,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.741,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.2794,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": 0.34,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 4.231,
"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": -8,
"acmg_classification": "Benign",
"acmg_criteria": "PP3,BP6,BS1,BS2",
"acmg_by_gene": [
{
"score": -8,
"benign_score": 9,
"pathogenic_score": 1,
"criteria": [
"PP3",
"BP6",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001281303.2",
"gene_symbol": "SPTLC1",
"hgnc_id": 11277,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1213C>T",
"hgvs_p": "p.Arg405Cys"
}
],
"clinvar_disease": "Hereditary sensory and autonomic neuropathy type 1,Inborn genetic diseases,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:3",
"phenotype_combined": "Hereditary sensory and autonomic neuropathy type 1|Inborn genetic diseases|not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}