← 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: 1-155137652-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=155137652&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 155137652,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_018845.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC50A1",
"gene_hgnc_id": 30657,
"hgvs_c": "c.374G>C",
"hgvs_p": "p.Arg125Pro",
"transcript": "NM_018845.4",
"protein_id": "NP_061333.2",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 221,
"cds_start": 374,
"cds_end": null,
"cds_length": 666,
"cdna_start": 434,
"cdna_end": null,
"cdna_length": 1298,
"mane_select": "ENST00000368404.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018845.4"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC50A1",
"gene_hgnc_id": 30657,
"hgvs_c": "c.374G>C",
"hgvs_p": "p.Arg125Pro",
"transcript": "ENST00000368404.9",
"protein_id": "ENSP00000357389.4",
"transcript_support_level": 1,
"aa_start": 125,
"aa_end": null,
"aa_length": 221,
"cds_start": 374,
"cds_end": null,
"cds_length": 666,
"cdna_start": 434,
"cdna_end": null,
"cdna_length": 1298,
"mane_select": "NM_018845.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000368404.9"
},
{
"aa_ref": "R",
"aa_alt": "P",
"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": "SLC50A1",
"gene_hgnc_id": 30657,
"hgvs_c": "c.209G>C",
"hgvs_p": "p.Arg70Pro",
"transcript": "ENST00000368401.6",
"protein_id": "ENSP00000357386.5",
"transcript_support_level": 1,
"aa_start": 70,
"aa_end": null,
"aa_length": 166,
"cds_start": 209,
"cds_end": null,
"cds_length": 501,
"cdna_start": 350,
"cdna_end": null,
"cdna_length": 1218,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000368401.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SLC50A1",
"gene_hgnc_id": 30657,
"hgvs_c": "c.283-327G>C",
"hgvs_p": null,
"transcript": "ENST00000303343.12",
"protein_id": "ENSP00000306146.8",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 167,
"cds_start": null,
"cds_end": null,
"cds_length": 504,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1137,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000303343.12"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC50A1",
"gene_hgnc_id": 30657,
"hgvs_c": "c.353G>C",
"hgvs_p": "p.Arg118Pro",
"transcript": "NM_001287587.2",
"protein_id": "NP_001274516.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 214,
"cds_start": 353,
"cds_end": null,
"cds_length": 645,
"cdna_start": 454,
"cdna_end": null,
"cdna_length": 1318,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001287587.2"
},
{
"aa_ref": "R",
"aa_alt": "P",
"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": "SLC50A1",
"gene_hgnc_id": 30657,
"hgvs_c": "c.296G>C",
"hgvs_p": "p.Arg99Pro",
"transcript": "ENST00000864376.1",
"protein_id": "ENSP00000534435.1",
"transcript_support_level": null,
"aa_start": 99,
"aa_end": null,
"aa_length": 195,
"cds_start": 296,
"cds_end": null,
"cds_length": 588,
"cdna_start": 401,
"cdna_end": null,
"cdna_length": 1265,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864376.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC50A1",
"gene_hgnc_id": 30657,
"hgvs_c": "c.260G>C",
"hgvs_p": "p.Arg87Pro",
"transcript": "NM_001287591.2",
"protein_id": "NP_001274520.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 183,
"cds_start": 260,
"cds_end": null,
"cds_length": 552,
"cdna_start": 500,
"cdna_end": null,
"cdna_length": 1364,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001287591.2"
},
{
"aa_ref": "R",
"aa_alt": "P",
"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": "SLC50A1",
"gene_hgnc_id": 30657,
"hgvs_c": "c.245G>C",
"hgvs_p": "p.Arg82Pro",
"transcript": "ENST00000957827.1",
"protein_id": "ENSP00000627886.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 178,
"cds_start": 245,
"cds_end": null,
"cds_length": 537,
"cdna_start": 315,
"cdna_end": null,
"cdna_length": 1177,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957827.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"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": "SLC50A1",
"gene_hgnc_id": 30657,
"hgvs_c": "c.236G>C",
"hgvs_p": "p.Arg79Pro",
"transcript": "NM_001287586.2",
"protein_id": "NP_001274515.1",
"transcript_support_level": null,
"aa_start": 79,
"aa_end": null,
"aa_length": 175,
"cds_start": 236,
"cds_end": null,
"cds_length": 528,
"cdna_start": 337,
"cdna_end": null,
"cdna_length": 1201,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001287586.2"
},
{
"aa_ref": "R",
"aa_alt": "P",
"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": "SLC50A1",
"gene_hgnc_id": 30657,
"hgvs_c": "c.236G>C",
"hgvs_p": "p.Arg79Pro",
"transcript": "ENST00000622581.4",
"protein_id": "ENSP00000481368.1",
"transcript_support_level": 5,
"aa_start": 79,
"aa_end": null,
"aa_length": 175,
"cds_start": 236,
"cds_end": null,
"cds_length": 528,
"cdna_start": 377,
"cdna_end": null,
"cdna_length": 1245,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000622581.4"
},
{
"aa_ref": "R",
"aa_alt": "P",
"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": "SLC50A1",
"gene_hgnc_id": 30657,
"hgvs_c": "c.218G>C",
"hgvs_p": "p.Arg73Pro",
"transcript": "ENST00000864377.1",
"protein_id": "ENSP00000534436.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 169,
"cds_start": 218,
"cds_end": null,
"cds_length": 510,
"cdna_start": 302,
"cdna_end": null,
"cdna_length": 1165,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864377.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"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": "SLC50A1",
"gene_hgnc_id": 30657,
"hgvs_c": "c.209G>C",
"hgvs_p": "p.Arg70Pro",
"transcript": "NM_001122837.2",
"protein_id": "NP_001116309.1",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 166,
"cds_start": 209,
"cds_end": null,
"cds_length": 501,
"cdna_start": 310,
"cdna_end": null,
"cdna_length": 1174,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001122837.2"
},
{
"aa_ref": "R",
"aa_alt": "P",
"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": "SLC50A1",
"gene_hgnc_id": 30657,
"hgvs_c": "c.179G>C",
"hgvs_p": "p.Arg60Pro",
"transcript": "NM_001287590.2",
"protein_id": "NP_001274519.1",
"transcript_support_level": null,
"aa_start": 60,
"aa_end": null,
"aa_length": 156,
"cds_start": 179,
"cds_end": null,
"cds_length": 471,
"cdna_start": 476,
"cdna_end": null,
"cdna_length": 1340,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001287590.2"
},
{
"aa_ref": "R",
"aa_alt": "P",
"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": "SLC50A1",
"gene_hgnc_id": 30657,
"hgvs_c": "c.179G>C",
"hgvs_p": "p.Arg60Pro",
"transcript": "ENST00000484157.5",
"protein_id": "ENSP00000420189.1",
"transcript_support_level": 3,
"aa_start": 60,
"aa_end": null,
"aa_length": 156,
"cds_start": 179,
"cds_end": null,
"cds_length": 471,
"cdna_start": 507,
"cdna_end": null,
"cdna_length": 886,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000484157.5"
},
{
"aa_ref": "R",
"aa_alt": "P",
"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": "SLC50A1",
"gene_hgnc_id": 30657,
"hgvs_c": "c.209G>C",
"hgvs_p": "p.Arg70Pro",
"transcript": "NM_001287588.2",
"protein_id": "NP_001274517.1",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 136,
"cds_start": 209,
"cds_end": null,
"cds_length": 411,
"cdna_start": 310,
"cdna_end": null,
"cdna_length": 1192,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001287588.2"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC50A1",
"gene_hgnc_id": 30657,
"hgvs_c": "c.326G>C",
"hgvs_p": "p.Arg109Pro",
"transcript": "XM_047425442.1",
"protein_id": "XP_047281398.1",
"transcript_support_level": null,
"aa_start": 109,
"aa_end": null,
"aa_length": 205,
"cds_start": 326,
"cds_end": null,
"cds_length": 618,
"cdna_start": 538,
"cdna_end": null,
"cdna_length": 1402,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425442.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC50A1",
"gene_hgnc_id": 30657,
"hgvs_c": "c.323G>C",
"hgvs_p": "p.Arg108Pro",
"transcript": "XM_047425443.1",
"protein_id": "XP_047281399.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 204,
"cds_start": 323,
"cds_end": null,
"cds_length": 615,
"cdna_start": 620,
"cdna_end": null,
"cdna_length": 1484,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425443.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC50A1",
"gene_hgnc_id": 30657,
"hgvs_c": "c.374G>C",
"hgvs_p": "p.Arg125Pro",
"transcript": "XM_006711453.3",
"protein_id": "XP_006711516.1",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 191,
"cds_start": 374,
"cds_end": null,
"cds_length": 576,
"cdna_start": 434,
"cdna_end": null,
"cdna_length": 1316,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006711453.3"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC50A1",
"gene_hgnc_id": 30657,
"hgvs_c": "c.278G>C",
"hgvs_p": "p.Arg93Pro",
"transcript": "XM_005245342.4",
"protein_id": "XP_005245399.1",
"transcript_support_level": null,
"aa_start": 93,
"aa_end": null,
"aa_length": 189,
"cds_start": 278,
"cds_end": null,
"cds_length": 570,
"cdna_start": 518,
"cdna_end": null,
"cdna_length": 1382,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005245342.4"
},
{
"aa_ref": "R",
"aa_alt": "P",
"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": "SLC50A1",
"gene_hgnc_id": 30657,
"hgvs_c": "c.182G>C",
"hgvs_p": "p.Arg61Pro",
"transcript": "XM_047425464.1",
"protein_id": "XP_047281420.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 157,
"cds_start": 182,
"cds_end": null,
"cds_length": 474,
"cdna_start": 394,
"cdna_end": null,
"cdna_length": 1258,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425464.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SLC50A1",
"gene_hgnc_id": 30657,
"hgvs_c": "c.283-327G>C",
"hgvs_p": null,
"transcript": "NM_001122839.2",
"protein_id": "NP_001116311.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 167,
"cds_start": null,
"cds_end": null,
"cds_length": 504,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1136,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001122839.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SLC50A1",
"gene_hgnc_id": 30657,
"hgvs_c": "c.118-327G>C",
"hgvs_p": null,
"transcript": "NM_001287589.2",
"protein_id": "NP_001274518.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 112,
"cds_start": null,
"cds_end": null,
"cds_length": 339,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1012,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001287589.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SLC50A1",
"gene_hgnc_id": 30657,
"hgvs_c": "c.91-327G>C",
"hgvs_p": null,
"transcript": "NM_001287592.2",
"protein_id": "NP_001274521.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 103,
"cds_start": null,
"cds_end": null,
"cds_length": 312,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1096,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001287592.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SLC50A1",
"gene_hgnc_id": 30657,
"hgvs_c": "c.262-327G>C",
"hgvs_p": null,
"transcript": "XM_047425460.1",
"protein_id": "XP_047281416.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 160,
"cds_start": null,
"cds_end": null,
"cds_length": 483,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1156,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425460.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SLC50A1",
"gene_hgnc_id": 30657,
"hgvs_c": "c.283-327G>C",
"hgvs_p": null,
"transcript": "XM_047425465.1",
"protein_id": "XP_047281421.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 137,
"cds_start": null,
"cds_end": null,
"cds_length": 414,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1154,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425465.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC50A1",
"gene_hgnc_id": 30657,
"hgvs_c": "n.*6G>C",
"hgvs_p": null,
"transcript": "ENST00000475824.6",
"protein_id": "ENSP00000497719.1",
"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": 1346,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000475824.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC50A1",
"gene_hgnc_id": 30657,
"hgvs_c": "n.*232G>C",
"hgvs_p": null,
"transcript": "ENST00000488609.5",
"protein_id": "ENSP00000497056.1",
"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": 890,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000488609.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC50A1",
"gene_hgnc_id": 30657,
"hgvs_c": "n.*58G>C",
"hgvs_p": null,
"transcript": "ENST00000490276.5",
"protein_id": "ENSP00000497580.1",
"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": 778,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000490276.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC50A1",
"gene_hgnc_id": 30657,
"hgvs_c": "n.518G>C",
"hgvs_p": null,
"transcript": "ENST00000490770.5",
"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": 991,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000490770.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC50A1",
"gene_hgnc_id": 30657,
"hgvs_c": "n.*58G>C",
"hgvs_p": null,
"transcript": "ENST00000650403.1",
"protein_id": "ENSP00000497577.1",
"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": 1166,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000650403.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC50A1",
"gene_hgnc_id": 30657,
"hgvs_c": "n.*6G>C",
"hgvs_p": null,
"transcript": "ENST00000475824.6",
"protein_id": "ENSP00000497719.1",
"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": 1346,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000475824.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC50A1",
"gene_hgnc_id": 30657,
"hgvs_c": "n.*232G>C",
"hgvs_p": null,
"transcript": "ENST00000488609.5",
"protein_id": "ENSP00000497056.1",
"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": 890,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000488609.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC50A1",
"gene_hgnc_id": 30657,
"hgvs_c": "n.*58G>C",
"hgvs_p": null,
"transcript": "ENST00000490276.5",
"protein_id": "ENSP00000497580.1",
"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": 778,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000490276.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC50A1",
"gene_hgnc_id": 30657,
"hgvs_c": "n.*58G>C",
"hgvs_p": null,
"transcript": "ENST00000650403.1",
"protein_id": "ENSP00000497577.1",
"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": 1166,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000650403.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SLC50A1",
"gene_hgnc_id": 30657,
"hgvs_c": "n.159-327G>C",
"hgvs_p": null,
"transcript": "ENST00000368405.7",
"protein_id": "ENSP00000497506.1",
"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": 1003,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000368405.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SLC50A1",
"gene_hgnc_id": 30657,
"hgvs_c": "n.82-327G>C",
"hgvs_p": null,
"transcript": "ENST00000484027.1",
"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": 596,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000484027.1"
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC50A1",
"gene_hgnc_id": 30657,
"hgvs_c": "n.*56G>C",
"hgvs_p": null,
"transcript": "ENST00000465546.5",
"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": 538,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000465546.5"
}
],
"gene_symbol": "SLC50A1",
"gene_hgnc_id": 30657,
"dbsnp": "rs763316571",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7621142864227295,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.453,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.7584,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.03,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 0.665,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_018845.4",
"gene_symbol": "SLC50A1",
"hgnc_id": 30657,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.374G>C",
"hgvs_p": "p.Arg125Pro"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}