← 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: 1-100078501-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=100078501&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 100078501,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_033055.3",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC71A1",
"gene_hgnc_id": 23363,
"hgvs_c": "c.1055C>T",
"hgvs_p": "p.Pro352Leu",
"transcript": "NM_033055.3",
"protein_id": "NP_149044.2",
"transcript_support_level": null,
"aa_start": 352,
"aa_end": null,
"aa_length": 490,
"cds_start": 1055,
"cds_end": null,
"cds_length": 1473,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000370152.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_033055.3"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFSD14A",
"gene_hgnc_id": 23363,
"hgvs_c": "c.1055C>T",
"hgvs_p": "p.Pro352Leu",
"transcript": "ENST00000370152.8",
"protein_id": "ENSP00000359171.3",
"transcript_support_level": 1,
"aa_start": 352,
"aa_end": null,
"aa_length": 490,
"cds_start": 1055,
"cds_end": null,
"cds_length": 1473,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_033055.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000370152.8"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000283761",
"gene_hgnc_id": null,
"hgvs_c": "c.1724C>T",
"hgvs_p": "p.Pro575Leu",
"transcript": "ENST00000639037.1",
"protein_id": "ENSP00000492745.1",
"transcript_support_level": 5,
"aa_start": 575,
"aa_end": null,
"aa_length": 713,
"cds_start": 1724,
"cds_end": null,
"cds_length": 2142,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000639037.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000283761",
"gene_hgnc_id": null,
"hgvs_c": "c.1652C>T",
"hgvs_p": "p.Pro551Leu",
"transcript": "ENST00000638792.1",
"protein_id": "ENSP00000491854.1",
"transcript_support_level": 5,
"aa_start": 551,
"aa_end": null,
"aa_length": 689,
"cds_start": 1652,
"cds_end": null,
"cds_length": 2070,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000638792.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFSD14A",
"gene_hgnc_id": 23363,
"hgvs_c": "c.1091C>T",
"hgvs_p": "p.Pro364Leu",
"transcript": "ENST00000965303.1",
"protein_id": "ENSP00000635362.1",
"transcript_support_level": null,
"aa_start": 364,
"aa_end": null,
"aa_length": 502,
"cds_start": 1091,
"cds_end": null,
"cds_length": 1509,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965303.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFSD14A",
"gene_hgnc_id": 23363,
"hgvs_c": "c.1052C>T",
"hgvs_p": "p.Pro351Leu",
"transcript": "ENST00000934721.1",
"protein_id": "ENSP00000604780.1",
"transcript_support_level": null,
"aa_start": 351,
"aa_end": null,
"aa_length": 489,
"cds_start": 1052,
"cds_end": null,
"cds_length": 1470,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934721.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFSD14A",
"gene_hgnc_id": 23363,
"hgvs_c": "c.1055C>T",
"hgvs_p": "p.Pro352Leu",
"transcript": "ENST00000852168.1",
"protein_id": "ENSP00000522227.1",
"transcript_support_level": null,
"aa_start": 352,
"aa_end": null,
"aa_length": 486,
"cds_start": 1055,
"cds_end": null,
"cds_length": 1461,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852168.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFSD14A",
"gene_hgnc_id": 23363,
"hgvs_c": "c.992C>T",
"hgvs_p": "p.Pro331Leu",
"transcript": "ENST00000852171.1",
"protein_id": "ENSP00000522230.1",
"transcript_support_level": null,
"aa_start": 331,
"aa_end": null,
"aa_length": 469,
"cds_start": 992,
"cds_end": null,
"cds_length": 1410,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852171.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFSD14A",
"gene_hgnc_id": 23363,
"hgvs_c": "c.983C>T",
"hgvs_p": "p.Pro328Leu",
"transcript": "ENST00000852170.1",
"protein_id": "ENSP00000522229.1",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 466,
"cds_start": 983,
"cds_end": null,
"cds_length": 1401,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852170.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFSD14A",
"gene_hgnc_id": 23363,
"hgvs_c": "c.959C>T",
"hgvs_p": "p.Pro320Leu",
"transcript": "ENST00000852167.1",
"protein_id": "ENSP00000522226.1",
"transcript_support_level": null,
"aa_start": 320,
"aa_end": null,
"aa_length": 458,
"cds_start": 959,
"cds_end": null,
"cds_length": 1377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852167.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFSD14A",
"gene_hgnc_id": 23363,
"hgvs_c": "c.941C>T",
"hgvs_p": "p.Pro314Leu",
"transcript": "ENST00000852169.1",
"protein_id": "ENSP00000522228.1",
"transcript_support_level": null,
"aa_start": 314,
"aa_end": null,
"aa_length": 452,
"cds_start": 941,
"cds_end": null,
"cds_length": 1359,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852169.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFSD14A",
"gene_hgnc_id": 23363,
"hgvs_c": "c.920C>T",
"hgvs_p": "p.Pro307Leu",
"transcript": "ENST00000965306.1",
"protein_id": "ENSP00000635365.1",
"transcript_support_level": null,
"aa_start": 307,
"aa_end": null,
"aa_length": 445,
"cds_start": 920,
"cds_end": null,
"cds_length": 1338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965306.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFSD14A",
"gene_hgnc_id": 23363,
"hgvs_c": "c.896C>T",
"hgvs_p": "p.Pro299Leu",
"transcript": "ENST00000934725.1",
"protein_id": "ENSP00000604784.1",
"transcript_support_level": null,
"aa_start": 299,
"aa_end": null,
"aa_length": 437,
"cds_start": 896,
"cds_end": null,
"cds_length": 1314,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934725.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFSD14A",
"gene_hgnc_id": 23363,
"hgvs_c": "c.869C>T",
"hgvs_p": "p.Pro290Leu",
"transcript": "ENST00000934722.1",
"protein_id": "ENSP00000604781.1",
"transcript_support_level": null,
"aa_start": 290,
"aa_end": null,
"aa_length": 428,
"cds_start": 869,
"cds_end": null,
"cds_length": 1287,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934722.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFSD14A",
"gene_hgnc_id": 23363,
"hgvs_c": "c.722C>T",
"hgvs_p": "p.Pro241Leu",
"transcript": "ENST00000965305.1",
"protein_id": "ENSP00000635364.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 379,
"cds_start": 722,
"cds_end": null,
"cds_length": 1140,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965305.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFSD14A",
"gene_hgnc_id": 23363,
"hgvs_c": "c.653C>T",
"hgvs_p": "p.Pro218Leu",
"transcript": "ENST00000965304.1",
"protein_id": "ENSP00000635363.1",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 356,
"cds_start": 653,
"cds_end": null,
"cds_length": 1071,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965304.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFSD14A",
"gene_hgnc_id": 23363,
"hgvs_c": "c.581C>T",
"hgvs_p": "p.Pro194Leu",
"transcript": "ENST00000934724.1",
"protein_id": "ENSP00000604783.1",
"transcript_support_level": null,
"aa_start": 194,
"aa_end": null,
"aa_length": 332,
"cds_start": 581,
"cds_end": null,
"cds_length": 999,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934724.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFSD14A",
"gene_hgnc_id": 23363,
"hgvs_c": "c.248C>T",
"hgvs_p": "p.Pro83Leu",
"transcript": "ENST00000934723.1",
"protein_id": "ENSP00000604782.1",
"transcript_support_level": null,
"aa_start": 83,
"aa_end": null,
"aa_length": 221,
"cds_start": 248,
"cds_end": null,
"cds_length": 666,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934723.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC71A1",
"gene_hgnc_id": 23363,
"hgvs_c": "c.989C>T",
"hgvs_p": "p.Pro330Leu",
"transcript": "XM_017002084.2",
"protein_id": "XP_016857573.1",
"transcript_support_level": null,
"aa_start": 330,
"aa_end": null,
"aa_length": 468,
"cds_start": 989,
"cds_end": null,
"cds_length": 1407,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017002084.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC71A1",
"gene_hgnc_id": 23363,
"hgvs_c": "c.989C>T",
"hgvs_p": "p.Pro330Leu",
"transcript": "XM_047427996.1",
"protein_id": "XP_047283952.1",
"transcript_support_level": null,
"aa_start": 330,
"aa_end": null,
"aa_length": 468,
"cds_start": 989,
"cds_end": null,
"cds_length": 1407,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047427996.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC71A1",
"gene_hgnc_id": 23363,
"hgvs_c": "c.941C>T",
"hgvs_p": "p.Pro314Leu",
"transcript": "XM_011541957.2",
"protein_id": "XP_011540259.1",
"transcript_support_level": null,
"aa_start": 314,
"aa_end": null,
"aa_length": 452,
"cds_start": 941,
"cds_end": null,
"cds_length": 1359,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011541957.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC71A1",
"gene_hgnc_id": 23363,
"hgvs_c": "c.869C>T",
"hgvs_p": "p.Pro290Leu",
"transcript": "XM_047427999.1",
"protein_id": "XP_047283955.1",
"transcript_support_level": null,
"aa_start": 290,
"aa_end": null,
"aa_length": 428,
"cds_start": 869,
"cds_end": null,
"cds_length": 1287,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047427999.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000283761",
"gene_hgnc_id": null,
"hgvs_c": "n.*1091C>T",
"hgvs_p": null,
"transcript": "ENST00000638968.1",
"protein_id": "ENSP00000491405.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000638968.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"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": "ENSG00000283761",
"gene_hgnc_id": null,
"hgvs_c": "n.*948C>T",
"hgvs_p": null,
"transcript": "ENST00000639040.1",
"protein_id": "ENSP00000492034.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000639040.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"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": "ENSG00000283761",
"gene_hgnc_id": null,
"hgvs_c": "n.*1030C>T",
"hgvs_p": null,
"transcript": "ENST00000639171.1",
"protein_id": "ENSP00000492729.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000639171.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000283761",
"gene_hgnc_id": null,
"hgvs_c": "n.*1664C>T",
"hgvs_p": null,
"transcript": "ENST00000640238.1",
"protein_id": "ENSP00000491093.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000640238.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000283761",
"gene_hgnc_id": null,
"hgvs_c": "n.*958C>T",
"hgvs_p": null,
"transcript": "ENST00000640357.1",
"protein_id": "ENSP00000491367.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000640357.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000283761",
"gene_hgnc_id": null,
"hgvs_c": "n.*1091C>T",
"hgvs_p": null,
"transcript": "ENST00000638968.1",
"protein_id": "ENSP00000491405.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000638968.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000283761",
"gene_hgnc_id": null,
"hgvs_c": "n.*948C>T",
"hgvs_p": null,
"transcript": "ENST00000639040.1",
"protein_id": "ENSP00000492034.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000639040.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000283761",
"gene_hgnc_id": null,
"hgvs_c": "n.*1030C>T",
"hgvs_p": null,
"transcript": "ENST00000639171.1",
"protein_id": "ENSP00000492729.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000639171.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000283761",
"gene_hgnc_id": null,
"hgvs_c": "n.*1664C>T",
"hgvs_p": null,
"transcript": "ENST00000640238.1",
"protein_id": "ENSP00000491093.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000640238.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000283761",
"gene_hgnc_id": null,
"hgvs_c": "n.*958C>T",
"hgvs_p": null,
"transcript": "ENST00000640357.1",
"protein_id": "ENSP00000491367.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000640357.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MFSD14A-AS1",
"gene_hgnc_id": 58237,
"hgvs_c": "n.292+5679G>A",
"hgvs_p": null,
"transcript": "ENST00000432294.1",
"protein_id": null,
"transcript_support_level": 3,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000432294.1"
}
],
"gene_symbol": "SLC71A1",
"gene_hgnc_id": 23363,
"dbsnp": "rs202009553",
"frequency_reference_population": 0.0000024787478,
"hom_count_reference_population": 0,
"allele_count_reference_population": 4,
"gnomad_exomes_af": 0.00000205264,
"gnomad_genomes_af": 0.00000657082,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9173577427864075,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.711,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9789,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.3,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.905,
"phylop100way_prediction": "Pathogenic",
"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": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_033055.3",
"gene_symbol": "SLC71A1",
"hgnc_id": 23363,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1055C>T",
"hgvs_p": "p.Pro352Leu"
},
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000370152.8",
"gene_symbol": "MFSD14A",
"hgnc_id": 23363,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1055C>T",
"hgvs_p": "p.Pro352Leu"
},
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000639037.1",
"gene_symbol": "ENSG00000283761",
"hgnc_id": null,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1724C>T",
"hgvs_p": "p.Pro575Leu"
},
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000432294.1",
"gene_symbol": "MFSD14A-AS1",
"hgnc_id": 58237,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.292+5679G>A",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}