← Back to variant description
GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 2-27201750-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=27201750&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 27201750,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_021095.4",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC5A6",
"gene_hgnc_id": 11041,
"hgvs_c": "c.1460C>G",
"hgvs_p": "p.Pro487Arg",
"transcript": "NM_021095.4",
"protein_id": "NP_066918.2",
"transcript_support_level": null,
"aa_start": 487,
"aa_end": null,
"aa_length": 635,
"cds_start": 1460,
"cds_end": null,
"cds_length": 1908,
"cdna_start": 1916,
"cdna_end": null,
"cdna_length": 3213,
"mane_select": "ENST00000310574.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_021095.4"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC5A6",
"gene_hgnc_id": 11041,
"hgvs_c": "c.1460C>G",
"hgvs_p": "p.Pro487Arg",
"transcript": "ENST00000310574.8",
"protein_id": "ENSP00000310208.3",
"transcript_support_level": 1,
"aa_start": 487,
"aa_end": null,
"aa_length": 635,
"cds_start": 1460,
"cds_end": null,
"cds_length": 1908,
"cdna_start": 1916,
"cdna_end": null,
"cdna_length": 3213,
"mane_select": "NM_021095.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000310574.8"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC5A6",
"gene_hgnc_id": 11041,
"hgvs_c": "c.1460C>G",
"hgvs_p": "p.Pro487Arg",
"transcript": "ENST00000408041.5",
"protein_id": "ENSP00000384853.1",
"transcript_support_level": 1,
"aa_start": 487,
"aa_end": null,
"aa_length": 635,
"cds_start": 1460,
"cds_end": null,
"cds_length": 1908,
"cdna_start": 1782,
"cdna_end": null,
"cdna_length": 2230,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000408041.5"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC5A6",
"gene_hgnc_id": 11041,
"hgvs_c": "c.1493C>G",
"hgvs_p": "p.Pro498Arg",
"transcript": "ENST00000892752.1",
"protein_id": "ENSP00000562811.1",
"transcript_support_level": null,
"aa_start": 498,
"aa_end": null,
"aa_length": 646,
"cds_start": 1493,
"cds_end": null,
"cds_length": 1941,
"cdna_start": 1944,
"cdna_end": null,
"cdna_length": 3241,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892752.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC5A6",
"gene_hgnc_id": 11041,
"hgvs_c": "c.1460C>G",
"hgvs_p": "p.Pro487Arg",
"transcript": "ENST00000892748.1",
"protein_id": "ENSP00000562807.1",
"transcript_support_level": null,
"aa_start": 487,
"aa_end": null,
"aa_length": 635,
"cds_start": 1460,
"cds_end": null,
"cds_length": 1908,
"cdna_start": 1852,
"cdna_end": null,
"cdna_length": 3149,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892748.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC5A6",
"gene_hgnc_id": 11041,
"hgvs_c": "c.1460C>G",
"hgvs_p": "p.Pro487Arg",
"transcript": "ENST00000892751.1",
"protein_id": "ENSP00000562810.1",
"transcript_support_level": null,
"aa_start": 487,
"aa_end": null,
"aa_length": 635,
"cds_start": 1460,
"cds_end": null,
"cds_length": 1908,
"cdna_start": 1984,
"cdna_end": null,
"cdna_length": 3281,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892751.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC5A6",
"gene_hgnc_id": 11041,
"hgvs_c": "c.1460C>G",
"hgvs_p": "p.Pro487Arg",
"transcript": "ENST00000892753.1",
"protein_id": "ENSP00000562812.1",
"transcript_support_level": null,
"aa_start": 487,
"aa_end": null,
"aa_length": 635,
"cds_start": 1460,
"cds_end": null,
"cds_length": 1908,
"cdna_start": 1869,
"cdna_end": null,
"cdna_length": 3163,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892753.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC5A6",
"gene_hgnc_id": 11041,
"hgvs_c": "c.1460C>G",
"hgvs_p": "p.Pro487Arg",
"transcript": "ENST00000892754.1",
"protein_id": "ENSP00000562813.1",
"transcript_support_level": null,
"aa_start": 487,
"aa_end": null,
"aa_length": 635,
"cds_start": 1460,
"cds_end": null,
"cds_length": 1908,
"cdna_start": 1741,
"cdna_end": null,
"cdna_length": 3033,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892754.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC5A6",
"gene_hgnc_id": 11041,
"hgvs_c": "c.1460C>G",
"hgvs_p": "p.Pro487Arg",
"transcript": "ENST00000892755.1",
"protein_id": "ENSP00000562814.1",
"transcript_support_level": null,
"aa_start": 487,
"aa_end": null,
"aa_length": 635,
"cds_start": 1460,
"cds_end": null,
"cds_length": 1908,
"cdna_start": 1786,
"cdna_end": null,
"cdna_length": 3083,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892755.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"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": "SLC5A6",
"gene_hgnc_id": 11041,
"hgvs_c": "c.1460C>G",
"hgvs_p": "p.Pro487Arg",
"transcript": "ENST00000892756.1",
"protein_id": "ENSP00000562815.1",
"transcript_support_level": null,
"aa_start": 487,
"aa_end": null,
"aa_length": 635,
"cds_start": 1460,
"cds_end": null,
"cds_length": 1908,
"cdna_start": 1767,
"cdna_end": null,
"cdna_length": 3064,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892756.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC5A6",
"gene_hgnc_id": 11041,
"hgvs_c": "c.1460C>G",
"hgvs_p": "p.Pro487Arg",
"transcript": "ENST00000892757.1",
"protein_id": "ENSP00000562816.1",
"transcript_support_level": null,
"aa_start": 487,
"aa_end": null,
"aa_length": 635,
"cds_start": 1460,
"cds_end": null,
"cds_length": 1908,
"cdna_start": 2123,
"cdna_end": null,
"cdna_length": 3417,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892757.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC5A6",
"gene_hgnc_id": 11041,
"hgvs_c": "c.1460C>G",
"hgvs_p": "p.Pro487Arg",
"transcript": "ENST00000926531.1",
"protein_id": "ENSP00000596590.1",
"transcript_support_level": null,
"aa_start": 487,
"aa_end": null,
"aa_length": 635,
"cds_start": 1460,
"cds_end": null,
"cds_length": 1908,
"cdna_start": 1731,
"cdna_end": null,
"cdna_length": 3028,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926531.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC5A6",
"gene_hgnc_id": 11041,
"hgvs_c": "c.1460C>G",
"hgvs_p": "p.Pro487Arg",
"transcript": "ENST00000926534.1",
"protein_id": "ENSP00000596593.1",
"transcript_support_level": null,
"aa_start": 487,
"aa_end": null,
"aa_length": 635,
"cds_start": 1460,
"cds_end": null,
"cds_length": 1908,
"cdna_start": 1888,
"cdna_end": null,
"cdna_length": 3185,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926534.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"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": "SLC5A6",
"gene_hgnc_id": 11041,
"hgvs_c": "c.1460C>G",
"hgvs_p": "p.Pro487Arg",
"transcript": "ENST00000926537.1",
"protein_id": "ENSP00000596596.1",
"transcript_support_level": null,
"aa_start": 487,
"aa_end": null,
"aa_length": 635,
"cds_start": 1460,
"cds_end": null,
"cds_length": 1908,
"cdna_start": 1907,
"cdna_end": null,
"cdna_length": 3204,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926537.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC5A6",
"gene_hgnc_id": 11041,
"hgvs_c": "c.1460C>G",
"hgvs_p": "p.Pro487Arg",
"transcript": "ENST00000962472.1",
"protein_id": "ENSP00000632531.1",
"transcript_support_level": null,
"aa_start": 487,
"aa_end": null,
"aa_length": 635,
"cds_start": 1460,
"cds_end": null,
"cds_length": 1908,
"cdna_start": 2120,
"cdna_end": null,
"cdna_length": 3415,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962472.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC5A6",
"gene_hgnc_id": 11041,
"hgvs_c": "c.1460C>G",
"hgvs_p": "p.Pro487Arg",
"transcript": "ENST00000962473.1",
"protein_id": "ENSP00000632532.1",
"transcript_support_level": null,
"aa_start": 487,
"aa_end": null,
"aa_length": 635,
"cds_start": 1460,
"cds_end": null,
"cds_length": 1908,
"cdna_start": 1902,
"cdna_end": null,
"cdna_length": 3195,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962473.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC5A6",
"gene_hgnc_id": 11041,
"hgvs_c": "c.1460C>G",
"hgvs_p": "p.Pro487Arg",
"transcript": "ENST00000962474.1",
"protein_id": "ENSP00000632533.1",
"transcript_support_level": null,
"aa_start": 487,
"aa_end": null,
"aa_length": 635,
"cds_start": 1460,
"cds_end": null,
"cds_length": 1908,
"cdna_start": 2059,
"cdna_end": null,
"cdna_length": 3350,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962474.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC5A6",
"gene_hgnc_id": 11041,
"hgvs_c": "c.1460C>G",
"hgvs_p": "p.Pro487Arg",
"transcript": "ENST00000962475.1",
"protein_id": "ENSP00000632534.1",
"transcript_support_level": null,
"aa_start": 487,
"aa_end": null,
"aa_length": 635,
"cds_start": 1460,
"cds_end": null,
"cds_length": 1908,
"cdna_start": 1764,
"cdna_end": null,
"cdna_length": 3059,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962475.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC5A6",
"gene_hgnc_id": 11041,
"hgvs_c": "c.1457C>G",
"hgvs_p": "p.Pro486Arg",
"transcript": "ENST00000926529.1",
"protein_id": "ENSP00000596588.1",
"transcript_support_level": null,
"aa_start": 486,
"aa_end": null,
"aa_length": 634,
"cds_start": 1457,
"cds_end": null,
"cds_length": 1905,
"cdna_start": 1909,
"cdna_end": null,
"cdna_length": 3206,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926529.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC5A6",
"gene_hgnc_id": 11041,
"hgvs_c": "c.1370C>G",
"hgvs_p": "p.Pro457Arg",
"transcript": "ENST00000892750.1",
"protein_id": "ENSP00000562809.1",
"transcript_support_level": null,
"aa_start": 457,
"aa_end": null,
"aa_length": 605,
"cds_start": 1370,
"cds_end": null,
"cds_length": 1818,
"cdna_start": 1831,
"cdna_end": null,
"cdna_length": 3128,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892750.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC5A6",
"gene_hgnc_id": 11041,
"hgvs_c": "c.1370C>G",
"hgvs_p": "p.Pro457Arg",
"transcript": "ENST00000926528.1",
"protein_id": "ENSP00000596587.1",
"transcript_support_level": null,
"aa_start": 457,
"aa_end": null,
"aa_length": 605,
"cds_start": 1370,
"cds_end": null,
"cds_length": 1818,
"cdna_start": 1788,
"cdna_end": null,
"cdna_length": 3083,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926528.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC5A6",
"gene_hgnc_id": 11041,
"hgvs_c": "c.1367C>G",
"hgvs_p": "p.Pro456Arg",
"transcript": "ENST00000892749.1",
"protein_id": "ENSP00000562808.1",
"transcript_support_level": null,
"aa_start": 456,
"aa_end": null,
"aa_length": 604,
"cds_start": 1367,
"cds_end": null,
"cds_length": 1815,
"cdna_start": 1849,
"cdna_end": null,
"cdna_length": 3144,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892749.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC5A6",
"gene_hgnc_id": 11041,
"hgvs_c": "c.1367C>G",
"hgvs_p": "p.Pro456Arg",
"transcript": "ENST00000926532.1",
"protein_id": "ENSP00000596591.1",
"transcript_support_level": null,
"aa_start": 456,
"aa_end": null,
"aa_length": 604,
"cds_start": 1367,
"cds_end": null,
"cds_length": 1815,
"cdna_start": 1706,
"cdna_end": null,
"cdna_length": 3000,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926532.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC5A6",
"gene_hgnc_id": 11041,
"hgvs_c": "c.1334C>G",
"hgvs_p": "p.Pro445Arg",
"transcript": "ENST00000962471.1",
"protein_id": "ENSP00000632530.1",
"transcript_support_level": null,
"aa_start": 445,
"aa_end": null,
"aa_length": 593,
"cds_start": 1334,
"cds_end": null,
"cds_length": 1782,
"cdna_start": 1790,
"cdna_end": null,
"cdna_length": 3085,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962471.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"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": "SLC5A6",
"gene_hgnc_id": 11041,
"hgvs_c": "c.1319C>G",
"hgvs_p": "p.Pro440Arg",
"transcript": "ENST00000926527.1",
"protein_id": "ENSP00000596586.1",
"transcript_support_level": null,
"aa_start": 440,
"aa_end": null,
"aa_length": 588,
"cds_start": 1319,
"cds_end": null,
"cds_length": 1767,
"cdna_start": 1795,
"cdna_end": null,
"cdna_length": 3092,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926527.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC5A6",
"gene_hgnc_id": 11041,
"hgvs_c": "c.1319C>G",
"hgvs_p": "p.Pro440Arg",
"transcript": "ENST00000926536.1",
"protein_id": "ENSP00000596595.1",
"transcript_support_level": null,
"aa_start": 440,
"aa_end": null,
"aa_length": 588,
"cds_start": 1319,
"cds_end": null,
"cds_length": 1767,
"cdna_start": 1730,
"cdna_end": null,
"cdna_length": 3024,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926536.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC5A6",
"gene_hgnc_id": 11041,
"hgvs_c": "c.1244C>G",
"hgvs_p": "p.Pro415Arg",
"transcript": "ENST00000926535.1",
"protein_id": "ENSP00000596594.1",
"transcript_support_level": null,
"aa_start": 415,
"aa_end": null,
"aa_length": 563,
"cds_start": 1244,
"cds_end": null,
"cds_length": 1692,
"cdna_start": 1468,
"cdna_end": null,
"cdna_length": 2760,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926535.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC5A6",
"gene_hgnc_id": 11041,
"hgvs_c": "c.1154C>G",
"hgvs_p": "p.Pro385Arg",
"transcript": "ENST00000926530.1",
"protein_id": "ENSP00000596589.1",
"transcript_support_level": null,
"aa_start": 385,
"aa_end": null,
"aa_length": 533,
"cds_start": 1154,
"cds_end": null,
"cds_length": 1602,
"cdna_start": 1596,
"cdna_end": null,
"cdna_length": 2893,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926530.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC5A6",
"gene_hgnc_id": 11041,
"hgvs_c": "c.1154C>G",
"hgvs_p": "p.Pro385Arg",
"transcript": "ENST00000926533.1",
"protein_id": "ENSP00000596592.1",
"transcript_support_level": null,
"aa_start": 385,
"aa_end": null,
"aa_length": 533,
"cds_start": 1154,
"cds_end": null,
"cds_length": 1602,
"cdna_start": 1387,
"cdna_end": null,
"cdna_length": 2684,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926533.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC5A6",
"gene_hgnc_id": 11041,
"hgvs_c": "c.1460C>G",
"hgvs_p": "p.Pro487Arg",
"transcript": "XM_006712128.3",
"protein_id": "XP_006712191.1",
"transcript_support_level": null,
"aa_start": 487,
"aa_end": null,
"aa_length": 635,
"cds_start": 1460,
"cds_end": null,
"cds_length": 1908,
"cdna_start": 1903,
"cdna_end": null,
"cdna_length": 3200,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006712128.3"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC5A6",
"gene_hgnc_id": 11041,
"hgvs_c": "c.1460C>G",
"hgvs_p": "p.Pro487Arg",
"transcript": "XM_006712129.2",
"protein_id": "XP_006712192.1",
"transcript_support_level": null,
"aa_start": 487,
"aa_end": null,
"aa_length": 635,
"cds_start": 1460,
"cds_end": null,
"cds_length": 1908,
"cdna_start": 2036,
"cdna_end": null,
"cdna_length": 3333,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006712129.2"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC5A6",
"gene_hgnc_id": 11041,
"hgvs_c": "c.1460C>G",
"hgvs_p": "p.Pro487Arg",
"transcript": "XM_006712130.2",
"protein_id": "XP_006712193.1",
"transcript_support_level": null,
"aa_start": 487,
"aa_end": null,
"aa_length": 635,
"cds_start": 1460,
"cds_end": null,
"cds_length": 1908,
"cdna_start": 1847,
"cdna_end": null,
"cdna_length": 3144,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006712130.2"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC5A6",
"gene_hgnc_id": 11041,
"hgvs_c": "c.1460C>G",
"hgvs_p": "p.Pro487Arg",
"transcript": "XM_047446243.1",
"protein_id": "XP_047302199.1",
"transcript_support_level": null,
"aa_start": 487,
"aa_end": null,
"aa_length": 635,
"cds_start": 1460,
"cds_end": null,
"cds_length": 1908,
"cdna_start": 1826,
"cdna_end": null,
"cdna_length": 3123,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047446243.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC5A6",
"gene_hgnc_id": 11041,
"hgvs_c": "c.1460C>G",
"hgvs_p": "p.Pro487Arg",
"transcript": "XM_024453206.2",
"protein_id": "XP_024308974.1",
"transcript_support_level": null,
"aa_start": 487,
"aa_end": null,
"aa_length": 577,
"cds_start": 1460,
"cds_end": null,
"cds_length": 1734,
"cdna_start": 1916,
"cdna_end": null,
"cdna_length": 2993,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024453206.2"
},
{
"aa_ref": "P",
"aa_alt": "R",
"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": "SLC5A6",
"gene_hgnc_id": 11041,
"hgvs_c": "c.1460C>G",
"hgvs_p": "p.Pro487Arg",
"transcript": "XM_024453207.2",
"protein_id": "XP_024308975.1",
"transcript_support_level": null,
"aa_start": 487,
"aa_end": null,
"aa_length": 562,
"cds_start": 1460,
"cds_end": null,
"cds_length": 1689,
"cdna_start": 1916,
"cdna_end": null,
"cdna_length": 3109,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024453207.2"
},
{
"aa_ref": "P",
"aa_alt": "R",
"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": "SLC5A6",
"gene_hgnc_id": 11041,
"hgvs_c": "c.1460C>G",
"hgvs_p": "p.Pro487Arg",
"transcript": "XM_047446244.1",
"protein_id": "XP_047302200.1",
"transcript_support_level": null,
"aa_start": 487,
"aa_end": null,
"aa_length": 562,
"cds_start": 1460,
"cds_end": null,
"cds_length": 1689,
"cdna_start": 1714,
"cdna_end": null,
"cdna_length": 2907,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047446244.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"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": "SLC5A6",
"gene_hgnc_id": 11041,
"hgvs_c": "c.1460C>G",
"hgvs_p": "p.Pro487Arg",
"transcript": "XM_047446245.1",
"protein_id": "XP_047302201.1",
"transcript_support_level": null,
"aa_start": 487,
"aa_end": null,
"aa_length": 562,
"cds_start": 1460,
"cds_end": null,
"cds_length": 1689,
"cdna_start": 1847,
"cdna_end": null,
"cdna_length": 3040,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047446245.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"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": "SLC5A6",
"gene_hgnc_id": 11041,
"hgvs_c": "c.1460C>G",
"hgvs_p": "p.Pro487Arg",
"transcript": "XM_047446246.1",
"protein_id": "XP_047302202.1",
"transcript_support_level": null,
"aa_start": 487,
"aa_end": null,
"aa_length": 562,
"cds_start": 1460,
"cds_end": null,
"cds_length": 1689,
"cdna_start": 1903,
"cdna_end": null,
"cdna_length": 3096,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047446246.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC5A6",
"gene_hgnc_id": 11041,
"hgvs_c": "c.833C>G",
"hgvs_p": "p.Pro278Arg",
"transcript": "XM_047446247.1",
"protein_id": "XP_047302203.1",
"transcript_support_level": null,
"aa_start": 278,
"aa_end": null,
"aa_length": 426,
"cds_start": 833,
"cds_end": null,
"cds_length": 1281,
"cdna_start": 1015,
"cdna_end": null,
"cdna_length": 2312,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047446247.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC5A6",
"gene_hgnc_id": 11041,
"hgvs_c": "c.791C>G",
"hgvs_p": "p.Pro264Arg",
"transcript": "XM_047446248.1",
"protein_id": "XP_047302204.1",
"transcript_support_level": null,
"aa_start": 264,
"aa_end": null,
"aa_length": 412,
"cds_start": 791,
"cds_end": null,
"cds_length": 1239,
"cdna_start": 953,
"cdna_end": null,
"cdna_length": 2250,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047446248.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC5A6",
"gene_hgnc_id": 11041,
"hgvs_c": "n.398C>G",
"hgvs_p": null,
"transcript": "ENST00000461319.5",
"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": 598,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000461319.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC5A6",
"gene_hgnc_id": 11041,
"hgvs_c": "n.562C>G",
"hgvs_p": null,
"transcript": "ENST00000461757.1",
"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": 2307,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000461757.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC5A6",
"gene_hgnc_id": 11041,
"hgvs_c": "n.489C>G",
"hgvs_p": null,
"transcript": "ENST00000481751.5",
"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": 615,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000481751.5"
},
{
"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": "SLC5A6",
"gene_hgnc_id": 11041,
"hgvs_c": "n.2146C>G",
"hgvs_p": null,
"transcript": "ENST00000488743.6",
"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": 3174,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000488743.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC5A6",
"gene_hgnc_id": 11041,
"hgvs_c": "n.667C>G",
"hgvs_p": null,
"transcript": "ENST00000492069.5",
"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": 705,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000492069.5"
},
{
"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": "SLC5A6",
"gene_hgnc_id": 11041,
"hgvs_c": "n.2268C>G",
"hgvs_p": null,
"transcript": "NR_028323.2",
"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": 3298,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_028323.2"
},
{
"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": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC5A6",
"gene_hgnc_id": 11041,
"hgvs_c": "n.1714C>G",
"hgvs_p": null,
"transcript": "XR_001739022.2",
"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": 2744,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_001739022.2"
},
{
"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": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC5A6",
"gene_hgnc_id": 11041,
"hgvs_c": "n.1847C>G",
"hgvs_p": null,
"transcript": "XR_001739023.2",
"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": 2877,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_001739023.2"
},
{
"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": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC5A6",
"gene_hgnc_id": 11041,
"hgvs_c": "n.1903C>G",
"hgvs_p": null,
"transcript": "XR_001739024.3",
"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": 2933,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_001739024.3"
},
{
"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": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC5A6",
"gene_hgnc_id": 11041,
"hgvs_c": "n.1916C>G",
"hgvs_p": null,
"transcript": "XR_002959356.2",
"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": 2946,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_002959356.2"
},
{
"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": "SLC5A6",
"gene_hgnc_id": 11041,
"hgvs_c": "n.1916C>G",
"hgvs_p": null,
"transcript": "XR_002959357.2",
"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": 2726,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_002959357.2"
},
{
"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": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC5A6",
"gene_hgnc_id": 11041,
"hgvs_c": "n.1916C>G",
"hgvs_p": null,
"transcript": "XR_002959358.2",
"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": 2842,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_002959358.2"
},
{
"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": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC5A6",
"gene_hgnc_id": 11041,
"hgvs_c": "n.1826C>G",
"hgvs_p": null,
"transcript": "XR_007084322.1",
"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": 2856,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007084322.1"
},
{
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC5A6",
"gene_hgnc_id": 11041,
"hgvs_c": "n.*34C>G",
"hgvs_p": null,
"transcript": "ENST00000476319.1",
"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": 842,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000476319.1"
}
],
"gene_symbol": "SLC5A6",
"gene_hgnc_id": 11041,
"dbsnp": "rs769602340",
"frequency_reference_population": 6.8407314e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84073e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.11560636758804321,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.153,
"revel_prediction": "Benign",
"alphamissense_score": 0.0789,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.19,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.411,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_021095.4",
"gene_symbol": "SLC5A6",
"hgnc_id": 11041,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1460C>G",
"hgvs_p": "p.Pro487Arg"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}