← 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: 6-25845472-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=25845472&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 25845472,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "NM_001098486.2",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC17A3",
"gene_hgnc_id": 10931,
"hgvs_c": "c.1407C>T",
"hgvs_p": "p.Ala469Ala",
"transcript": "NM_001098486.2",
"protein_id": "NP_001091956.1",
"transcript_support_level": null,
"aa_start": 469,
"aa_end": null,
"aa_length": 498,
"cds_start": 1407,
"cds_end": null,
"cds_length": 1497,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000397060.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001098486.2"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC17A3",
"gene_hgnc_id": 10931,
"hgvs_c": "c.1407C>T",
"hgvs_p": "p.Ala469Ala",
"transcript": "ENST00000397060.8",
"protein_id": "ENSP00000380250.4",
"transcript_support_level": 2,
"aa_start": 469,
"aa_end": null,
"aa_length": 498,
"cds_start": 1407,
"cds_end": null,
"cds_length": 1497,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001098486.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000397060.8"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC17A3",
"gene_hgnc_id": 10931,
"hgvs_c": "c.1173C>T",
"hgvs_p": "p.Ala391Ala",
"transcript": "ENST00000361703.10",
"protein_id": "ENSP00000355307.6",
"transcript_support_level": 1,
"aa_start": 391,
"aa_end": null,
"aa_length": 420,
"cds_start": 1173,
"cds_end": null,
"cds_length": 1263,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000361703.10"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC17A3",
"gene_hgnc_id": 10931,
"hgvs_c": "c.1407C>T",
"hgvs_p": "p.Ala469Ala",
"transcript": "ENST00000861066.1",
"protein_id": "ENSP00000531125.1",
"transcript_support_level": null,
"aa_start": 469,
"aa_end": null,
"aa_length": 498,
"cds_start": 1407,
"cds_end": null,
"cds_length": 1497,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861066.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC17A3",
"gene_hgnc_id": 10931,
"hgvs_c": "c.1407C>T",
"hgvs_p": "p.Ala469Ala",
"transcript": "ENST00000861071.1",
"protein_id": "ENSP00000531130.1",
"transcript_support_level": null,
"aa_start": 469,
"aa_end": null,
"aa_length": 498,
"cds_start": 1407,
"cds_end": null,
"cds_length": 1497,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861071.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC17A3",
"gene_hgnc_id": 10931,
"hgvs_c": "c.1407C>T",
"hgvs_p": "p.Ala469Ala",
"transcript": "ENST00000861072.1",
"protein_id": "ENSP00000531131.1",
"transcript_support_level": null,
"aa_start": 469,
"aa_end": null,
"aa_length": 498,
"cds_start": 1407,
"cds_end": null,
"cds_length": 1497,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861072.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC17A3",
"gene_hgnc_id": 10931,
"hgvs_c": "c.1407C>T",
"hgvs_p": "p.Ala469Ala",
"transcript": "ENST00000861084.1",
"protein_id": "ENSP00000531143.1",
"transcript_support_level": null,
"aa_start": 469,
"aa_end": null,
"aa_length": 498,
"cds_start": 1407,
"cds_end": null,
"cds_length": 1497,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861084.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC17A3",
"gene_hgnc_id": 10931,
"hgvs_c": "c.1212C>T",
"hgvs_p": "p.Ala404Ala",
"transcript": "ENST00000861083.1",
"protein_id": "ENSP00000531142.1",
"transcript_support_level": null,
"aa_start": 404,
"aa_end": null,
"aa_length": 433,
"cds_start": 1212,
"cds_end": null,
"cds_length": 1302,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861083.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC17A3",
"gene_hgnc_id": 10931,
"hgvs_c": "c.1173C>T",
"hgvs_p": "p.Ala391Ala",
"transcript": "NM_006632.4",
"protein_id": "NP_006623.2",
"transcript_support_level": null,
"aa_start": 391,
"aa_end": null,
"aa_length": 420,
"cds_start": 1173,
"cds_end": null,
"cds_length": 1263,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006632.4"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC17A3",
"gene_hgnc_id": 10931,
"hgvs_c": "c.1173C>T",
"hgvs_p": "p.Ala391Ala",
"transcript": "ENST00000360657.7",
"protein_id": "ENSP00000353873.3",
"transcript_support_level": 2,
"aa_start": 391,
"aa_end": null,
"aa_length": 420,
"cds_start": 1173,
"cds_end": null,
"cds_length": 1263,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000360657.7"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC17A3",
"gene_hgnc_id": 10931,
"hgvs_c": "c.1173C>T",
"hgvs_p": "p.Ala391Ala",
"transcript": "ENST00000861065.1",
"protein_id": "ENSP00000531124.1",
"transcript_support_level": null,
"aa_start": 391,
"aa_end": null,
"aa_length": 420,
"cds_start": 1173,
"cds_end": null,
"cds_length": 1263,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861065.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC17A3",
"gene_hgnc_id": 10931,
"hgvs_c": "c.1173C>T",
"hgvs_p": "p.Ala391Ala",
"transcript": "ENST00000861070.1",
"protein_id": "ENSP00000531129.1",
"transcript_support_level": null,
"aa_start": 391,
"aa_end": null,
"aa_length": 420,
"cds_start": 1173,
"cds_end": null,
"cds_length": 1263,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861070.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC17A3",
"gene_hgnc_id": 10931,
"hgvs_c": "c.1173C>T",
"hgvs_p": "p.Ala391Ala",
"transcript": "ENST00000861078.1",
"protein_id": "ENSP00000531137.1",
"transcript_support_level": null,
"aa_start": 391,
"aa_end": null,
"aa_length": 420,
"cds_start": 1173,
"cds_end": null,
"cds_length": 1263,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861078.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC17A3",
"gene_hgnc_id": 10931,
"hgvs_c": "c.1059C>T",
"hgvs_p": "p.Ala353Ala",
"transcript": "ENST00000861074.1",
"protein_id": "ENSP00000531133.1",
"transcript_support_level": null,
"aa_start": 353,
"aa_end": null,
"aa_length": 382,
"cds_start": 1059,
"cds_end": null,
"cds_length": 1149,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861074.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC17A3",
"gene_hgnc_id": 10931,
"hgvs_c": "c.1059C>T",
"hgvs_p": "p.Ala353Ala",
"transcript": "ENST00000861075.1",
"protein_id": "ENSP00000531134.1",
"transcript_support_level": null,
"aa_start": 353,
"aa_end": null,
"aa_length": 382,
"cds_start": 1059,
"cds_end": null,
"cds_length": 1149,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861075.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC17A3",
"gene_hgnc_id": 10931,
"hgvs_c": "c.984C>T",
"hgvs_p": "p.Ala328Ala",
"transcript": "ENST00000861080.1",
"protein_id": "ENSP00000531139.1",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 357,
"cds_start": 984,
"cds_end": null,
"cds_length": 1074,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861080.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC17A3",
"gene_hgnc_id": 10931,
"hgvs_c": "c.876C>T",
"hgvs_p": "p.Ala292Ala",
"transcript": "ENST00000861082.1",
"protein_id": "ENSP00000531141.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 321,
"cds_start": 876,
"cds_end": null,
"cds_length": 966,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861082.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC17A3",
"gene_hgnc_id": 10931,
"hgvs_c": "c.825C>T",
"hgvs_p": "p.Ala275Ala",
"transcript": "ENST00000861067.1",
"protein_id": "ENSP00000531126.1",
"transcript_support_level": null,
"aa_start": 275,
"aa_end": null,
"aa_length": 304,
"cds_start": 825,
"cds_end": null,
"cds_length": 915,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861067.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC17A3",
"gene_hgnc_id": 10931,
"hgvs_c": "c.825C>T",
"hgvs_p": "p.Ala275Ala",
"transcript": "ENST00000861069.1",
"protein_id": "ENSP00000531128.1",
"transcript_support_level": null,
"aa_start": 275,
"aa_end": null,
"aa_length": 304,
"cds_start": 825,
"cds_end": null,
"cds_length": 915,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861069.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC17A3",
"gene_hgnc_id": 10931,
"hgvs_c": "c.825C>T",
"hgvs_p": "p.Ala275Ala",
"transcript": "ENST00000861073.1",
"protein_id": "ENSP00000531132.1",
"transcript_support_level": null,
"aa_start": 275,
"aa_end": null,
"aa_length": 304,
"cds_start": 825,
"cds_end": null,
"cds_length": 915,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861073.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC17A3",
"gene_hgnc_id": 10931,
"hgvs_c": "c.825C>T",
"hgvs_p": "p.Ala275Ala",
"transcript": "ENST00000861076.1",
"protein_id": "ENSP00000531135.1",
"transcript_support_level": null,
"aa_start": 275,
"aa_end": null,
"aa_length": 304,
"cds_start": 825,
"cds_end": null,
"cds_length": 915,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861076.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC17A3",
"gene_hgnc_id": 10931,
"hgvs_c": "c.822C>T",
"hgvs_p": "p.Ala274Ala",
"transcript": "ENST00000861077.1",
"protein_id": "ENSP00000531136.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 303,
"cds_start": 822,
"cds_end": null,
"cds_length": 912,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861077.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC17A3",
"gene_hgnc_id": 10931,
"hgvs_c": "c.642C>T",
"hgvs_p": "p.Ala214Ala",
"transcript": "ENST00000861068.1",
"protein_id": "ENSP00000531127.1",
"transcript_support_level": null,
"aa_start": 214,
"aa_end": null,
"aa_length": 243,
"cds_start": 642,
"cds_end": null,
"cds_length": 732,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861068.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC17A3",
"gene_hgnc_id": 10931,
"hgvs_c": "c.642C>T",
"hgvs_p": "p.Ala214Ala",
"transcript": "ENST00000861079.1",
"protein_id": "ENSP00000531138.1",
"transcript_support_level": null,
"aa_start": 214,
"aa_end": null,
"aa_length": 243,
"cds_start": 642,
"cds_end": null,
"cds_length": 732,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861079.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC17A3",
"gene_hgnc_id": 10931,
"hgvs_c": "c.642C>T",
"hgvs_p": "p.Ala214Ala",
"transcript": "ENST00000861081.1",
"protein_id": "ENSP00000531140.1",
"transcript_support_level": null,
"aa_start": 214,
"aa_end": null,
"aa_length": 243,
"cds_start": 642,
"cds_end": null,
"cds_length": 732,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861081.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC17A3",
"gene_hgnc_id": 10931,
"hgvs_c": "c.207C>T",
"hgvs_p": "p.Ala69Ala",
"transcript": "ENST00000481949.6",
"protein_id": "ENSP00000421855.1",
"transcript_support_level": 3,
"aa_start": 69,
"aa_end": null,
"aa_length": 98,
"cds_start": 207,
"cds_end": null,
"cds_length": 297,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000481949.6"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC17A3",
"gene_hgnc_id": 10931,
"hgvs_c": "c.66C>T",
"hgvs_p": "p.Ala22Ala",
"transcript": "ENST00000505420.5",
"protein_id": "ENSP00000424027.1",
"transcript_support_level": 5,
"aa_start": 22,
"aa_end": null,
"aa_length": 51,
"cds_start": 66,
"cds_end": null,
"cds_length": 156,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000505420.5"
},
{
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LOC124901285",
"gene_hgnc_id": null,
"hgvs_c": "n.379+8940G>A",
"hgvs_p": null,
"transcript": "XR_007059518.1",
"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": "pseudogene",
"feature": "XR_007059518.1"
}
],
"gene_symbol": "SLC17A3",
"gene_hgnc_id": 10931,
"dbsnp": "rs116732075",
"frequency_reference_population": 0.0017131966,
"hom_count_reference_population": 60,
"allele_count_reference_population": 2765,
"gnomad_exomes_af": 0.00172123,
"gnomad_genomes_af": 0.00163603,
"gnomad_exomes_ac": 2516,
"gnomad_genomes_ac": 249,
"gnomad_exomes_homalt": 55,
"gnomad_genomes_homalt": 5,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.006000000052154064,
"computational_prediction_selected": "Benign",
"computational_source_selected": "REVEL",
"splice_score_selected": 0.03999999910593033,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.006,
"revel_prediction": "Benign",
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.48,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.466,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.04,
"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": -14,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6,BP7,BS1,BS2",
"acmg_by_gene": [
{
"score": -14,
"benign_score": 14,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6",
"BP7",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001098486.2",
"gene_symbol": "SLC17A3",
"hgnc_id": 10931,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1407C>T",
"hgvs_p": "p.Ala469Ala"
},
{
"score": -13,
"benign_score": 13,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "XR_007059518.1",
"gene_symbol": "LOC124901285",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.379+8940G>A",
"hgvs_p": null
}
],
"clinvar_disease": "SLC17A3-related disorder",
"clinvar_classification": "Benign",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "SLC17A3-related disorder",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}