← 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: 11-62881135-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=62881135&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 62881135,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001012662.3",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC3A2",
"gene_hgnc_id": 11026,
"hgvs_c": "c.112G>A",
"hgvs_p": "p.Glu38Lys",
"transcript": "NM_001013251.3",
"protein_id": "NP_001013269.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 529,
"cds_start": 112,
"cds_end": null,
"cds_length": 1590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000338663.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001013251.3"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC3A2",
"gene_hgnc_id": 11026,
"hgvs_c": "c.112G>A",
"hgvs_p": "p.Glu38Lys",
"transcript": "ENST00000338663.12",
"protein_id": "ENSP00000340815.7",
"transcript_support_level": 1,
"aa_start": 38,
"aa_end": null,
"aa_length": 529,
"cds_start": 112,
"cds_end": null,
"cds_length": 1590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001013251.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000338663.12"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC3A2",
"gene_hgnc_id": 11026,
"hgvs_c": "c.415G>A",
"hgvs_p": "p.Glu139Lys",
"transcript": "ENST00000377890.6",
"protein_id": "ENSP00000367122.2",
"transcript_support_level": 1,
"aa_start": 139,
"aa_end": null,
"aa_length": 630,
"cds_start": 415,
"cds_end": null,
"cds_length": 1893,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000377890.6"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC3A2",
"gene_hgnc_id": 11026,
"hgvs_c": "c.229G>A",
"hgvs_p": "p.Glu77Lys",
"transcript": "ENST00000377889.6",
"protein_id": "ENSP00000367121.2",
"transcript_support_level": 1,
"aa_start": 77,
"aa_end": null,
"aa_length": 568,
"cds_start": 229,
"cds_end": null,
"cds_length": 1707,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000377889.6"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC3A2",
"gene_hgnc_id": 11026,
"hgvs_c": "c.508G>A",
"hgvs_p": "p.Glu170Lys",
"transcript": "ENST00000538084.2",
"protein_id": "ENSP00000440001.2",
"transcript_support_level": 3,
"aa_start": 170,
"aa_end": null,
"aa_length": 661,
"cds_start": 508,
"cds_end": null,
"cds_length": 1986,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000538084.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC3A2",
"gene_hgnc_id": 11026,
"hgvs_c": "c.487G>A",
"hgvs_p": "p.Glu163Lys",
"transcript": "ENST00000681569.1",
"protein_id": "ENSP00000506498.1",
"transcript_support_level": null,
"aa_start": 163,
"aa_end": null,
"aa_length": 654,
"cds_start": 487,
"cds_end": null,
"cds_length": 1965,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000681569.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC3A2",
"gene_hgnc_id": 11026,
"hgvs_c": "c.418G>A",
"hgvs_p": "p.Glu140Lys",
"transcript": "NM_001012662.3",
"protein_id": "NP_001012680.1",
"transcript_support_level": null,
"aa_start": 140,
"aa_end": null,
"aa_length": 631,
"cds_start": 418,
"cds_end": null,
"cds_length": 1896,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001012662.3"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC3A2",
"gene_hgnc_id": 11026,
"hgvs_c": "c.418G>A",
"hgvs_p": "p.Glu140Lys",
"transcript": "ENST00000377891.6",
"protein_id": "ENSP00000367123.2",
"transcript_support_level": 2,
"aa_start": 140,
"aa_end": null,
"aa_length": 631,
"cds_start": 418,
"cds_end": null,
"cds_length": 1896,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000377891.6"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC3A2",
"gene_hgnc_id": 11026,
"hgvs_c": "c.415G>A",
"hgvs_p": "p.Glu139Lys",
"transcript": "NM_002394.6",
"protein_id": "NP_002385.3",
"transcript_support_level": null,
"aa_start": 139,
"aa_end": null,
"aa_length": 630,
"cds_start": 415,
"cds_end": null,
"cds_length": 1893,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002394.6"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC3A2",
"gene_hgnc_id": 11026,
"hgvs_c": "c.394G>A",
"hgvs_p": "p.Glu132Lys",
"transcript": "ENST00000681467.1",
"protein_id": "ENSP00000506217.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 623,
"cds_start": 394,
"cds_end": null,
"cds_length": 1872,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000681467.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC3A2",
"gene_hgnc_id": 11026,
"hgvs_c": "c.373G>A",
"hgvs_p": "p.Glu125Lys",
"transcript": "ENST00000680725.1",
"protein_id": "ENSP00000505585.1",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 616,
"cds_start": 373,
"cds_end": null,
"cds_length": 1851,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000680725.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC3A2",
"gene_hgnc_id": 11026,
"hgvs_c": "c.322G>A",
"hgvs_p": "p.Glu108Lys",
"transcript": "ENST00000680729.1",
"protein_id": "ENSP00000505639.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 603,
"cds_start": 322,
"cds_end": null,
"cds_length": 1812,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000680729.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC3A2",
"gene_hgnc_id": 11026,
"hgvs_c": "c.322G>A",
"hgvs_p": "p.Glu108Lys",
"transcript": "ENST00000535296.5",
"protein_id": "ENSP00000444236.1",
"transcript_support_level": 5,
"aa_start": 108,
"aa_end": null,
"aa_length": 599,
"cds_start": 322,
"cds_end": null,
"cds_length": 1800,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000535296.5"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC3A2",
"gene_hgnc_id": 11026,
"hgvs_c": "c.112G>A",
"hgvs_p": "p.Glu38Lys",
"transcript": "ENST00000926685.1",
"protein_id": "ENSP00000596744.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 576,
"cds_start": 112,
"cds_end": null,
"cds_length": 1731,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926685.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC3A2",
"gene_hgnc_id": 11026,
"hgvs_c": "c.112G>A",
"hgvs_p": "p.Glu38Lys",
"transcript": "ENST00000926690.1",
"protein_id": "ENSP00000596749.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 576,
"cds_start": 112,
"cds_end": null,
"cds_length": 1731,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926690.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC3A2",
"gene_hgnc_id": 11026,
"hgvs_c": "c.112G>A",
"hgvs_p": "p.Glu38Lys",
"transcript": "ENST00000926692.1",
"protein_id": "ENSP00000596751.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 576,
"cds_start": 112,
"cds_end": null,
"cds_length": 1731,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926692.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC3A2",
"gene_hgnc_id": 11026,
"hgvs_c": "c.112G>A",
"hgvs_p": "p.Glu38Lys",
"transcript": "ENST00000926694.1",
"protein_id": "ENSP00000596753.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 576,
"cds_start": 112,
"cds_end": null,
"cds_length": 1731,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926694.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC3A2",
"gene_hgnc_id": 11026,
"hgvs_c": "c.112G>A",
"hgvs_p": "p.Glu38Lys",
"transcript": "ENST00000971952.1",
"protein_id": "ENSP00000642011.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 576,
"cds_start": 112,
"cds_end": null,
"cds_length": 1731,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971952.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC3A2",
"gene_hgnc_id": 11026,
"hgvs_c": "c.112G>A",
"hgvs_p": "p.Glu38Lys",
"transcript": "ENST00000971953.1",
"protein_id": "ENSP00000642012.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 576,
"cds_start": 112,
"cds_end": null,
"cds_length": 1731,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971953.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC3A2",
"gene_hgnc_id": 11026,
"hgvs_c": "c.112G>A",
"hgvs_p": "p.Glu38Lys",
"transcript": "ENST00000908668.1",
"protein_id": "ENSP00000578727.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 575,
"cds_start": 112,
"cds_end": null,
"cds_length": 1728,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908668.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC3A2",
"gene_hgnc_id": 11026,
"hgvs_c": "c.229G>A",
"hgvs_p": "p.Glu77Lys",
"transcript": "NM_001012664.3",
"protein_id": "NP_001012682.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 568,
"cds_start": 229,
"cds_end": null,
"cds_length": 1707,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001012664.3"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC3A2",
"gene_hgnc_id": 11026,
"hgvs_c": "c.112G>A",
"hgvs_p": "p.Glu38Lys",
"transcript": "ENST00000681232.1",
"protein_id": "ENSP00000506460.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 533,
"cds_start": 112,
"cds_end": null,
"cds_length": 1602,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000681232.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC3A2",
"gene_hgnc_id": 11026,
"hgvs_c": "c.112G>A",
"hgvs_p": "p.Glu38Lys",
"transcript": "ENST00000908665.1",
"protein_id": "ENSP00000578724.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 533,
"cds_start": 112,
"cds_end": null,
"cds_length": 1602,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908665.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC3A2",
"gene_hgnc_id": 11026,
"hgvs_c": "c.112G>A",
"hgvs_p": "p.Glu38Lys",
"transcript": "ENST00000926672.1",
"protein_id": "ENSP00000596731.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 533,
"cds_start": 112,
"cds_end": null,
"cds_length": 1602,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926672.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC3A2",
"gene_hgnc_id": 11026,
"hgvs_c": "c.112G>A",
"hgvs_p": "p.Glu38Lys",
"transcript": "ENST00000926675.1",
"protein_id": "ENSP00000596734.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 533,
"cds_start": 112,
"cds_end": null,
"cds_length": 1602,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926675.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC3A2",
"gene_hgnc_id": 11026,
"hgvs_c": "c.112G>A",
"hgvs_p": "p.Glu38Lys",
"transcript": "ENST00000926681.1",
"protein_id": "ENSP00000596740.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 533,
"cds_start": 112,
"cds_end": null,
"cds_length": 1602,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926681.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC3A2",
"gene_hgnc_id": 11026,
"hgvs_c": "c.112G>A",
"hgvs_p": "p.Glu38Lys",
"transcript": "ENST00000544377.2",
"protein_id": "ENSP00000442135.2",
"transcript_support_level": 4,
"aa_start": 38,
"aa_end": null,
"aa_length": 529,
"cds_start": 112,
"cds_end": null,
"cds_length": 1590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000544377.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC3A2",
"gene_hgnc_id": 11026,
"hgvs_c": "c.112G>A",
"hgvs_p": "p.Glu38Lys",
"transcript": "ENST00000680631.1",
"protein_id": "ENSP00000506006.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 529,
"cds_start": 112,
"cds_end": null,
"cds_length": 1590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000680631.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC3A2",
"gene_hgnc_id": 11026,
"hgvs_c": "c.112G>A",
"hgvs_p": "p.Glu38Lys",
"transcript": "ENST00000681657.1",
"protein_id": "ENSP00000505110.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 529,
"cds_start": 112,
"cds_end": null,
"cds_length": 1590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000681657.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC3A2",
"gene_hgnc_id": 11026,
"hgvs_c": "c.112G>A",
"hgvs_p": "p.Glu38Lys",
"transcript": "ENST00000908662.1",
"protein_id": "ENSP00000578721.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 529,
"cds_start": 112,
"cds_end": null,
"cds_length": 1590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908662.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC3A2",
"gene_hgnc_id": 11026,
"hgvs_c": "c.112G>A",
"hgvs_p": "p.Glu38Lys",
"transcript": "ENST00000908663.1",
"protein_id": "ENSP00000578722.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 529,
"cds_start": 112,
"cds_end": null,
"cds_length": 1590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908663.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC3A2",
"gene_hgnc_id": 11026,
"hgvs_c": "c.112G>A",
"hgvs_p": "p.Glu38Lys",
"transcript": "ENST00000908664.1",
"protein_id": "ENSP00000578723.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 529,
"cds_start": 112,
"cds_end": null,
"cds_length": 1590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908664.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC3A2",
"gene_hgnc_id": 11026,
"hgvs_c": "c.112G>A",
"hgvs_p": "p.Glu38Lys",
"transcript": "ENST00000908666.1",
"protein_id": "ENSP00000578725.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 529,
"cds_start": 112,
"cds_end": null,
"cds_length": 1590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908666.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC3A2",
"gene_hgnc_id": 11026,
"hgvs_c": "c.112G>A",
"hgvs_p": "p.Glu38Lys",
"transcript": "ENST00000908667.1",
"protein_id": "ENSP00000578726.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 529,
"cds_start": 112,
"cds_end": null,
"cds_length": 1590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908667.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC3A2",
"gene_hgnc_id": 11026,
"hgvs_c": "c.112G>A",
"hgvs_p": "p.Glu38Lys",
"transcript": "ENST00000926671.1",
"protein_id": "ENSP00000596730.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 529,
"cds_start": 112,
"cds_end": null,
"cds_length": 1590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926671.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC3A2",
"gene_hgnc_id": 11026,
"hgvs_c": "c.112G>A",
"hgvs_p": "p.Glu38Lys",
"transcript": "ENST00000926673.1",
"protein_id": "ENSP00000596732.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 529,
"cds_start": 112,
"cds_end": null,
"cds_length": 1590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926673.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC3A2",
"gene_hgnc_id": 11026,
"hgvs_c": "c.112G>A",
"hgvs_p": "p.Glu38Lys",
"transcript": "ENST00000926674.1",
"protein_id": "ENSP00000596733.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 529,
"cds_start": 112,
"cds_end": null,
"cds_length": 1590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926674.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC3A2",
"gene_hgnc_id": 11026,
"hgvs_c": "c.112G>A",
"hgvs_p": "p.Glu38Lys",
"transcript": "ENST00000926676.1",
"protein_id": "ENSP00000596735.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 529,
"cds_start": 112,
"cds_end": null,
"cds_length": 1590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926676.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC3A2",
"gene_hgnc_id": 11026,
"hgvs_c": "c.112G>A",
"hgvs_p": "p.Glu38Lys",
"transcript": "ENST00000926677.1",
"protein_id": "ENSP00000596736.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 529,
"cds_start": 112,
"cds_end": null,
"cds_length": 1590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926677.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC3A2",
"gene_hgnc_id": 11026,
"hgvs_c": "c.112G>A",
"hgvs_p": "p.Glu38Lys",
"transcript": "ENST00000926678.1",
"protein_id": "ENSP00000596737.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 529,
"cds_start": 112,
"cds_end": null,
"cds_length": 1590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926678.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC3A2",
"gene_hgnc_id": 11026,
"hgvs_c": "c.112G>A",
"hgvs_p": "p.Glu38Lys",
"transcript": "ENST00000926679.1",
"protein_id": "ENSP00000596738.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 529,
"cds_start": 112,
"cds_end": null,
"cds_length": 1590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926679.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC3A2",
"gene_hgnc_id": 11026,
"hgvs_c": "c.112G>A",
"hgvs_p": "p.Glu38Lys",
"transcript": "ENST00000926680.1",
"protein_id": "ENSP00000596739.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 529,
"cds_start": 112,
"cds_end": null,
"cds_length": 1590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926680.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC3A2",
"gene_hgnc_id": 11026,
"hgvs_c": "c.112G>A",
"hgvs_p": "p.Glu38Lys",
"transcript": "ENST00000926682.1",
"protein_id": "ENSP00000596741.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 529,
"cds_start": 112,
"cds_end": null,
"cds_length": 1590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926682.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC3A2",
"gene_hgnc_id": 11026,
"hgvs_c": "c.112G>A",
"hgvs_p": "p.Glu38Lys",
"transcript": "ENST00000926683.1",
"protein_id": "ENSP00000596742.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 529,
"cds_start": 112,
"cds_end": null,
"cds_length": 1590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926683.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC3A2",
"gene_hgnc_id": 11026,
"hgvs_c": "c.112G>A",
"hgvs_p": "p.Glu38Lys",
"transcript": "ENST00000926686.1",
"protein_id": "ENSP00000596745.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 529,
"cds_start": 112,
"cds_end": null,
"cds_length": 1590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926686.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC3A2",
"gene_hgnc_id": 11026,
"hgvs_c": "c.112G>A",
"hgvs_p": "p.Glu38Lys",
"transcript": "ENST00000926687.1",
"protein_id": "ENSP00000596746.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 529,
"cds_start": 112,
"cds_end": null,
"cds_length": 1590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926687.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC3A2",
"gene_hgnc_id": 11026,
"hgvs_c": "c.112G>A",
"hgvs_p": "p.Glu38Lys",
"transcript": "ENST00000926688.1",
"protein_id": "ENSP00000596747.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 529,
"cds_start": 112,
"cds_end": null,
"cds_length": 1590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926688.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC3A2",
"gene_hgnc_id": 11026,
"hgvs_c": "c.112G>A",
"hgvs_p": "p.Glu38Lys",
"transcript": "ENST00000926693.1",
"protein_id": "ENSP00000596752.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 529,
"cds_start": 112,
"cds_end": null,
"cds_length": 1590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926693.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC3A2",
"gene_hgnc_id": 11026,
"hgvs_c": "c.112G>A",
"hgvs_p": "p.Glu38Lys",
"transcript": "ENST00000926689.1",
"protein_id": "ENSP00000596748.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 526,
"cds_start": 112,
"cds_end": null,
"cds_length": 1581,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926689.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC3A2",
"gene_hgnc_id": 11026,
"hgvs_c": "c.112G>A",
"hgvs_p": "p.Glu38Lys",
"transcript": "ENST00000971954.1",
"protein_id": "ENSP00000642013.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 526,
"cds_start": 112,
"cds_end": null,
"cds_length": 1581,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971954.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC3A2",
"gene_hgnc_id": 11026,
"hgvs_c": "c.112G>A",
"hgvs_p": "p.Glu38Lys",
"transcript": "ENST00000971955.1",
"protein_id": "ENSP00000642014.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 509,
"cds_start": 112,
"cds_end": null,
"cds_length": 1530,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971955.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC3A2",
"gene_hgnc_id": 11026,
"hgvs_c": "c.112G>A",
"hgvs_p": "p.Glu38Lys",
"transcript": "ENST00000926684.1",
"protein_id": "ENSP00000596743.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 501,
"cds_start": 112,
"cds_end": null,
"cds_length": 1506,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926684.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC3A2",
"gene_hgnc_id": 11026,
"hgvs_c": "c.112G>A",
"hgvs_p": "p.Glu38Lys",
"transcript": "ENST00000926691.1",
"protein_id": "ENSP00000596750.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 501,
"cds_start": 112,
"cds_end": null,
"cds_length": 1506,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926691.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC3A2",
"gene_hgnc_id": 11026,
"hgvs_c": "c.112G>A",
"hgvs_p": "p.Glu38Lys",
"transcript": "ENST00000926695.1",
"protein_id": "ENSP00000596754.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 501,
"cds_start": 112,
"cds_end": null,
"cds_length": 1506,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926695.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC3A2",
"gene_hgnc_id": 11026,
"hgvs_c": "c.112G>A",
"hgvs_p": "p.Glu38Lys",
"transcript": "ENST00000971956.1",
"protein_id": "ENSP00000642015.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 471,
"cds_start": 112,
"cds_end": null,
"cds_length": 1416,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971956.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC3A2",
"gene_hgnc_id": 11026,
"hgvs_c": "c.112G>A",
"hgvs_p": "p.Glu38Lys",
"transcript": "ENST00000680297.1",
"protein_id": "ENSP00000506230.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 415,
"cds_start": 112,
"cds_end": null,
"cds_length": 1248,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000680297.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC3A2",
"gene_hgnc_id": 11026,
"hgvs_c": "c.112G>A",
"hgvs_p": "p.Glu38Lys",
"transcript": "ENST00000539458.1",
"protein_id": "ENSP00000438032.1",
"transcript_support_level": 5,
"aa_start": 38,
"aa_end": null,
"aa_length": 144,
"cds_start": 112,
"cds_end": null,
"cds_length": 437,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000539458.1"
},
{
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SLC3A2",
"gene_hgnc_id": 11026,
"hgvs_c": "c.34-48G>A",
"hgvs_p": null,
"transcript": "ENST00000541372.1",
"protein_id": "ENSP00000444250.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 46,
"cds_start": null,
"cds_end": null,
"cds_length": 141,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000541372.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC3A2",
"gene_hgnc_id": 11026,
"hgvs_c": "n.112G>A",
"hgvs_p": null,
"transcript": "ENST00000541425.6",
"protein_id": "ENSP00000445858.2",
"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": "ENST00000541425.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC3A2",
"gene_hgnc_id": 11026,
"hgvs_c": "n.112G>A",
"hgvs_p": null,
"transcript": "ENST00000679908.1",
"protein_id": "ENSP00000506238.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000679908.1"
},
{
"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": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC3A2",
"gene_hgnc_id": 11026,
"hgvs_c": "n.322G>A",
"hgvs_p": null,
"transcript": "ENST00000680002.1",
"protein_id": "ENSP00000506366.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000680002.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC3A2",
"gene_hgnc_id": 11026,
"hgvs_c": "n.112G>A",
"hgvs_p": null,
"transcript": "ENST00000680134.1",
"protein_id": "ENSP00000504939.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000680134.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC3A2",
"gene_hgnc_id": 11026,
"hgvs_c": "n.112G>A",
"hgvs_p": null,
"transcript": "ENST00000680610.1",
"protein_id": "ENSP00000505079.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000680610.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC3A2",
"gene_hgnc_id": 11026,
"hgvs_c": "n.240G>A",
"hgvs_p": null,
"transcript": "ENST00000680654.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000680654.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC3A2",
"gene_hgnc_id": 11026,
"hgvs_c": "n.112G>A",
"hgvs_p": null,
"transcript": "ENST00000681107.1",
"protein_id": "ENSP00000505253.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000681107.1"
},
{
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC3A2",
"gene_hgnc_id": 11026,
"hgvs_c": "n.482G>A",
"hgvs_p": null,
"transcript": "ENST00000681215.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000681215.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC3A2",
"gene_hgnc_id": 11026,
"hgvs_c": "n.240G>A",
"hgvs_p": null,
"transcript": "ENST00000681563.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000681563.1"
}
],
"gene_symbol": "SLC3A2",
"gene_hgnc_id": 11026,
"dbsnp": "rs772779788",
"frequency_reference_population": 6.887033e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.88703e-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": 0.6735844016075134,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.545,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.5897,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.26,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 8.307,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001012662.3",
"gene_symbol": "SLC3A2",
"hgnc_id": 11026,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.418G>A",
"hgvs_p": "p.Glu140Lys"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}