← 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: 6-8413584-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=8413584&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 8413584,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_015948.5",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35B3",
"gene_hgnc_id": 21601,
"hgvs_c": "c.1075G>A",
"hgvs_p": "p.Ala359Thr",
"transcript": "NM_001370479.2",
"protein_id": "NP_001357408.1",
"transcript_support_level": null,
"aa_start": 359,
"aa_end": null,
"aa_length": 369,
"cds_start": 1075,
"cds_end": null,
"cds_length": 1110,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000710437.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370479.2"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35B3",
"gene_hgnc_id": 21601,
"hgvs_c": "c.1075G>A",
"hgvs_p": "p.Ala359Thr",
"transcript": "ENST00000710437.1",
"protein_id": "ENSP00000518269.1",
"transcript_support_level": null,
"aa_start": 359,
"aa_end": null,
"aa_length": 369,
"cds_start": 1075,
"cds_end": null,
"cds_length": 1110,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001370479.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000710437.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35B3",
"gene_hgnc_id": 21601,
"hgvs_c": "c.1171G>A",
"hgvs_p": "p.Ala391Thr",
"transcript": "ENST00000379660.4",
"protein_id": "ENSP00000368981.4",
"transcript_support_level": 1,
"aa_start": 391,
"aa_end": null,
"aa_length": 401,
"cds_start": 1171,
"cds_end": null,
"cds_length": 1206,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000379660.4"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35B3",
"gene_hgnc_id": 21601,
"hgvs_c": "c.1171G>A",
"hgvs_p": "p.Ala391Thr",
"transcript": "NM_001142540.2",
"protein_id": "NP_001136012.1",
"transcript_support_level": null,
"aa_start": 391,
"aa_end": null,
"aa_length": 401,
"cds_start": 1171,
"cds_end": null,
"cds_length": 1206,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001142540.2"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35B3",
"gene_hgnc_id": 21601,
"hgvs_c": "c.1171G>A",
"hgvs_p": "p.Ala391Thr",
"transcript": "NM_001142541.3",
"protein_id": "NP_001136013.1",
"transcript_support_level": null,
"aa_start": 391,
"aa_end": null,
"aa_length": 401,
"cds_start": 1171,
"cds_end": null,
"cds_length": 1206,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001142541.3"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35B3",
"gene_hgnc_id": 21601,
"hgvs_c": "c.1171G>A",
"hgvs_p": "p.Ala391Thr",
"transcript": "NM_001370476.2",
"protein_id": "NP_001357405.1",
"transcript_support_level": null,
"aa_start": 391,
"aa_end": null,
"aa_length": 401,
"cds_start": 1171,
"cds_end": null,
"cds_length": 1206,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370476.2"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35B3",
"gene_hgnc_id": 21601,
"hgvs_c": "c.1171G>A",
"hgvs_p": "p.Ala391Thr",
"transcript": "NM_015948.5",
"protein_id": "NP_057032.2",
"transcript_support_level": null,
"aa_start": 391,
"aa_end": null,
"aa_length": 401,
"cds_start": 1171,
"cds_end": null,
"cds_length": 1206,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015948.5"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35B3",
"gene_hgnc_id": 21601,
"hgvs_c": "c.1171G>A",
"hgvs_p": "p.Ala391Thr",
"transcript": "ENST00000644923.2",
"protein_id": "ENSP00000496368.1",
"transcript_support_level": null,
"aa_start": 391,
"aa_end": null,
"aa_length": 401,
"cds_start": 1171,
"cds_end": null,
"cds_length": 1206,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000644923.2"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35B3",
"gene_hgnc_id": 21601,
"hgvs_c": "c.1075G>A",
"hgvs_p": "p.Ala359Thr",
"transcript": "NM_001370478.2",
"protein_id": "NP_001357407.2",
"transcript_support_level": null,
"aa_start": 359,
"aa_end": null,
"aa_length": 369,
"cds_start": 1075,
"cds_end": null,
"cds_length": 1110,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370478.2"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35B3",
"gene_hgnc_id": 21601,
"hgvs_c": "c.1075G>A",
"hgvs_p": "p.Ala359Thr",
"transcript": "ENST00000648987.1",
"protein_id": "ENSP00000498054.1",
"transcript_support_level": null,
"aa_start": 359,
"aa_end": null,
"aa_length": 369,
"cds_start": 1075,
"cds_end": null,
"cds_length": 1110,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000648987.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35B3",
"gene_hgnc_id": 21601,
"hgvs_c": "c.1075G>A",
"hgvs_p": "p.Ala359Thr",
"transcript": "ENST00000894865.1",
"protein_id": "ENSP00000564924.1",
"transcript_support_level": null,
"aa_start": 359,
"aa_end": null,
"aa_length": 369,
"cds_start": 1075,
"cds_end": null,
"cds_length": 1110,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894865.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35B3",
"gene_hgnc_id": 21601,
"hgvs_c": "c.1075G>A",
"hgvs_p": "p.Ala359Thr",
"transcript": "ENST00000894867.1",
"protein_id": "ENSP00000564926.1",
"transcript_support_level": null,
"aa_start": 359,
"aa_end": null,
"aa_length": 369,
"cds_start": 1075,
"cds_end": null,
"cds_length": 1110,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894867.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35B3",
"gene_hgnc_id": 21601,
"hgvs_c": "c.1075G>A",
"hgvs_p": "p.Ala359Thr",
"transcript": "ENST00000894869.1",
"protein_id": "ENSP00000564928.1",
"transcript_support_level": null,
"aa_start": 359,
"aa_end": null,
"aa_length": 369,
"cds_start": 1075,
"cds_end": null,
"cds_length": 1110,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894869.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35B3",
"gene_hgnc_id": 21601,
"hgvs_c": "c.1075G>A",
"hgvs_p": "p.Ala359Thr",
"transcript": "ENST00000894870.1",
"protein_id": "ENSP00000564929.1",
"transcript_support_level": null,
"aa_start": 359,
"aa_end": null,
"aa_length": 369,
"cds_start": 1075,
"cds_end": null,
"cds_length": 1110,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894870.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35B3",
"gene_hgnc_id": 21601,
"hgvs_c": "c.1075G>A",
"hgvs_p": "p.Ala359Thr",
"transcript": "ENST00000894871.1",
"protein_id": "ENSP00000564930.1",
"transcript_support_level": null,
"aa_start": 359,
"aa_end": null,
"aa_length": 369,
"cds_start": 1075,
"cds_end": null,
"cds_length": 1110,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894871.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35B3",
"gene_hgnc_id": 21601,
"hgvs_c": "c.1075G>A",
"hgvs_p": "p.Ala359Thr",
"transcript": "ENST00000894872.1",
"protein_id": "ENSP00000564931.1",
"transcript_support_level": null,
"aa_start": 359,
"aa_end": null,
"aa_length": 369,
"cds_start": 1075,
"cds_end": null,
"cds_length": 1110,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894872.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35B3",
"gene_hgnc_id": 21601,
"hgvs_c": "c.1075G>A",
"hgvs_p": "p.Ala359Thr",
"transcript": "ENST00000894873.1",
"protein_id": "ENSP00000564932.1",
"transcript_support_level": null,
"aa_start": 359,
"aa_end": null,
"aa_length": 369,
"cds_start": 1075,
"cds_end": null,
"cds_length": 1110,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894873.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35B3",
"gene_hgnc_id": 21601,
"hgvs_c": "c.1075G>A",
"hgvs_p": "p.Ala359Thr",
"transcript": "ENST00000894877.1",
"protein_id": "ENSP00000564936.1",
"transcript_support_level": null,
"aa_start": 359,
"aa_end": null,
"aa_length": 369,
"cds_start": 1075,
"cds_end": null,
"cds_length": 1110,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894877.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35B3",
"gene_hgnc_id": 21601,
"hgvs_c": "c.1075G>A",
"hgvs_p": "p.Ala359Thr",
"transcript": "ENST00000894878.1",
"protein_id": "ENSP00000564937.1",
"transcript_support_level": null,
"aa_start": 359,
"aa_end": null,
"aa_length": 369,
"cds_start": 1075,
"cds_end": null,
"cds_length": 1110,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894878.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35B3",
"gene_hgnc_id": 21601,
"hgvs_c": "c.1075G>A",
"hgvs_p": "p.Ala359Thr",
"transcript": "ENST00000894884.1",
"protein_id": "ENSP00000564943.1",
"transcript_support_level": null,
"aa_start": 359,
"aa_end": null,
"aa_length": 369,
"cds_start": 1075,
"cds_end": null,
"cds_length": 1110,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894884.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35B3",
"gene_hgnc_id": 21601,
"hgvs_c": "c.1075G>A",
"hgvs_p": "p.Ala359Thr",
"transcript": "ENST00000894887.1",
"protein_id": "ENSP00000564946.1",
"transcript_support_level": null,
"aa_start": 359,
"aa_end": null,
"aa_length": 369,
"cds_start": 1075,
"cds_end": null,
"cds_length": 1110,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894887.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35B3",
"gene_hgnc_id": 21601,
"hgvs_c": "c.1075G>A",
"hgvs_p": "p.Ala359Thr",
"transcript": "ENST00000894888.1",
"protein_id": "ENSP00000564947.1",
"transcript_support_level": null,
"aa_start": 359,
"aa_end": null,
"aa_length": 369,
"cds_start": 1075,
"cds_end": null,
"cds_length": 1110,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894888.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35B3",
"gene_hgnc_id": 21601,
"hgvs_c": "c.1075G>A",
"hgvs_p": "p.Ala359Thr",
"transcript": "ENST00000928245.1",
"protein_id": "ENSP00000598304.1",
"transcript_support_level": null,
"aa_start": 359,
"aa_end": null,
"aa_length": 369,
"cds_start": 1075,
"cds_end": null,
"cds_length": 1110,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928245.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35B3",
"gene_hgnc_id": 21601,
"hgvs_c": "c.1075G>A",
"hgvs_p": "p.Ala359Thr",
"transcript": "ENST00000928246.1",
"protein_id": "ENSP00000598305.1",
"transcript_support_level": null,
"aa_start": 359,
"aa_end": null,
"aa_length": 369,
"cds_start": 1075,
"cds_end": null,
"cds_length": 1110,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928246.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35B3",
"gene_hgnc_id": 21601,
"hgvs_c": "c.1075G>A",
"hgvs_p": "p.Ala359Thr",
"transcript": "ENST00000968342.1",
"protein_id": "ENSP00000638401.1",
"transcript_support_level": null,
"aa_start": 359,
"aa_end": null,
"aa_length": 369,
"cds_start": 1075,
"cds_end": null,
"cds_length": 1110,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968342.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35B3",
"gene_hgnc_id": 21601,
"hgvs_c": "c.1075G>A",
"hgvs_p": "p.Ala359Thr",
"transcript": "ENST00000968343.1",
"protein_id": "ENSP00000638402.1",
"transcript_support_level": null,
"aa_start": 359,
"aa_end": null,
"aa_length": 369,
"cds_start": 1075,
"cds_end": null,
"cds_length": 1110,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968343.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35B3",
"gene_hgnc_id": 21601,
"hgvs_c": "c.1075G>A",
"hgvs_p": "p.Ala359Thr",
"transcript": "ENST00000968345.1",
"protein_id": "ENSP00000638404.1",
"transcript_support_level": null,
"aa_start": 359,
"aa_end": null,
"aa_length": 369,
"cds_start": 1075,
"cds_end": null,
"cds_length": 1110,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968345.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35B3",
"gene_hgnc_id": 21601,
"hgvs_c": "c.1054G>A",
"hgvs_p": "p.Ala352Thr",
"transcript": "ENST00000894881.1",
"protein_id": "ENSP00000564940.1",
"transcript_support_level": null,
"aa_start": 352,
"aa_end": null,
"aa_length": 362,
"cds_start": 1054,
"cds_end": null,
"cds_length": 1089,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894881.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35B3",
"gene_hgnc_id": 21601,
"hgvs_c": "c.1054G>A",
"hgvs_p": "p.Ala352Thr",
"transcript": "ENST00000968344.1",
"protein_id": "ENSP00000638403.1",
"transcript_support_level": null,
"aa_start": 352,
"aa_end": null,
"aa_length": 362,
"cds_start": 1054,
"cds_end": null,
"cds_length": 1089,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968344.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35B3",
"gene_hgnc_id": 21601,
"hgvs_c": "c.1042G>A",
"hgvs_p": "p.Ala348Thr",
"transcript": "ENST00000894866.1",
"protein_id": "ENSP00000564925.1",
"transcript_support_level": null,
"aa_start": 348,
"aa_end": null,
"aa_length": 358,
"cds_start": 1042,
"cds_end": null,
"cds_length": 1077,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894866.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35B3",
"gene_hgnc_id": 21601,
"hgvs_c": "c.1042G>A",
"hgvs_p": "p.Ala348Thr",
"transcript": "ENST00000894874.1",
"protein_id": "ENSP00000564933.1",
"transcript_support_level": null,
"aa_start": 348,
"aa_end": null,
"aa_length": 358,
"cds_start": 1042,
"cds_end": null,
"cds_length": 1077,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894874.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35B3",
"gene_hgnc_id": 21601,
"hgvs_c": "c.1042G>A",
"hgvs_p": "p.Ala348Thr",
"transcript": "ENST00000894875.1",
"protein_id": "ENSP00000564934.1",
"transcript_support_level": null,
"aa_start": 348,
"aa_end": null,
"aa_length": 358,
"cds_start": 1042,
"cds_end": null,
"cds_length": 1077,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894875.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35B3",
"gene_hgnc_id": 21601,
"hgvs_c": "c.1042G>A",
"hgvs_p": "p.Ala348Thr",
"transcript": "ENST00000894876.1",
"protein_id": "ENSP00000564935.1",
"transcript_support_level": null,
"aa_start": 348,
"aa_end": null,
"aa_length": 358,
"cds_start": 1042,
"cds_end": null,
"cds_length": 1077,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894876.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35B3",
"gene_hgnc_id": 21601,
"hgvs_c": "c.1042G>A",
"hgvs_p": "p.Ala348Thr",
"transcript": "ENST00000894883.1",
"protein_id": "ENSP00000564942.1",
"transcript_support_level": null,
"aa_start": 348,
"aa_end": null,
"aa_length": 358,
"cds_start": 1042,
"cds_end": null,
"cds_length": 1077,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894883.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35B3",
"gene_hgnc_id": 21601,
"hgvs_c": "c.1042G>A",
"hgvs_p": "p.Ala348Thr",
"transcript": "ENST00000894886.1",
"protein_id": "ENSP00000564945.1",
"transcript_support_level": null,
"aa_start": 348,
"aa_end": null,
"aa_length": 358,
"cds_start": 1042,
"cds_end": null,
"cds_length": 1077,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894886.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35B3",
"gene_hgnc_id": 21601,
"hgvs_c": "c.982G>A",
"hgvs_p": "p.Ala328Thr",
"transcript": "NM_001370477.1",
"protein_id": "NP_001357406.1",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 338,
"cds_start": 982,
"cds_end": null,
"cds_length": 1017,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370477.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35B3",
"gene_hgnc_id": 21601,
"hgvs_c": "c.982G>A",
"hgvs_p": "p.Ala328Thr",
"transcript": "ENST00000894868.1",
"protein_id": "ENSP00000564927.1",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 338,
"cds_start": 982,
"cds_end": null,
"cds_length": 1017,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894868.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35B3",
"gene_hgnc_id": 21601,
"hgvs_c": "c.982G>A",
"hgvs_p": "p.Ala328Thr",
"transcript": "ENST00000894879.1",
"protein_id": "ENSP00000564938.1",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 338,
"cds_start": 982,
"cds_end": null,
"cds_length": 1017,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894879.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35B3",
"gene_hgnc_id": 21601,
"hgvs_c": "c.982G>A",
"hgvs_p": "p.Ala328Thr",
"transcript": "ENST00000894880.1",
"protein_id": "ENSP00000564939.1",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 338,
"cds_start": 982,
"cds_end": null,
"cds_length": 1017,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894880.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35B3",
"gene_hgnc_id": 21601,
"hgvs_c": "c.982G>A",
"hgvs_p": "p.Ala328Thr",
"transcript": "ENST00000894882.1",
"protein_id": "ENSP00000564941.1",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 338,
"cds_start": 982,
"cds_end": null,
"cds_length": 1017,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894882.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35B3",
"gene_hgnc_id": 21601,
"hgvs_c": "c.982G>A",
"hgvs_p": "p.Ala328Thr",
"transcript": "ENST00000968346.1",
"protein_id": "ENSP00000638405.1",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 338,
"cds_start": 982,
"cds_end": null,
"cds_length": 1017,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968346.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35B3",
"gene_hgnc_id": 21601,
"hgvs_c": "c.982G>A",
"hgvs_p": "p.Ala328Thr",
"transcript": "ENST00000968348.1",
"protein_id": "ENSP00000638407.1",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 338,
"cds_start": 982,
"cds_end": null,
"cds_length": 1017,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968348.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35B3",
"gene_hgnc_id": 21601,
"hgvs_c": "c.982G>A",
"hgvs_p": "p.Ala328Thr",
"transcript": "ENST00000968349.1",
"protein_id": "ENSP00000638408.1",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 338,
"cds_start": 982,
"cds_end": null,
"cds_length": 1017,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968349.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35B3",
"gene_hgnc_id": 21601,
"hgvs_c": "c.982G>A",
"hgvs_p": "p.Ala328Thr",
"transcript": "ENST00000968350.1",
"protein_id": "ENSP00000638409.1",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 338,
"cds_start": 982,
"cds_end": null,
"cds_length": 1017,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968350.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35B3",
"gene_hgnc_id": 21601,
"hgvs_c": "c.949G>A",
"hgvs_p": "p.Ala317Thr",
"transcript": "ENST00000894885.1",
"protein_id": "ENSP00000564944.1",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 327,
"cds_start": 949,
"cds_end": null,
"cds_length": 984,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894885.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35B3",
"gene_hgnc_id": 21601,
"hgvs_c": "c.949G>A",
"hgvs_p": "p.Ala317Thr",
"transcript": "ENST00000968347.1",
"protein_id": "ENSP00000638406.1",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 327,
"cds_start": 949,
"cds_end": null,
"cds_length": 984,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968347.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35B3",
"gene_hgnc_id": 21601,
"hgvs_c": "c.1501G>A",
"hgvs_p": "p.Ala501Thr",
"transcript": "XM_047418840.1",
"protein_id": "XP_047274796.1",
"transcript_support_level": null,
"aa_start": 501,
"aa_end": null,
"aa_length": 511,
"cds_start": 1501,
"cds_end": null,
"cds_length": 1536,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418840.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35B3",
"gene_hgnc_id": 21601,
"hgvs_c": "c.1408G>A",
"hgvs_p": "p.Ala470Thr",
"transcript": "XM_047418841.1",
"protein_id": "XP_047274797.1",
"transcript_support_level": null,
"aa_start": 470,
"aa_end": null,
"aa_length": 480,
"cds_start": 1408,
"cds_end": null,
"cds_length": 1443,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418841.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35B3",
"gene_hgnc_id": 21601,
"hgvs_c": "c.1171G>A",
"hgvs_p": "p.Ala391Thr",
"transcript": "XM_017010910.2",
"protein_id": "XP_016866399.1",
"transcript_support_level": null,
"aa_start": 391,
"aa_end": null,
"aa_length": 401,
"cds_start": 1171,
"cds_end": null,
"cds_length": 1206,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017010910.2"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35B3",
"gene_hgnc_id": 21601,
"hgvs_c": "c.1171G>A",
"hgvs_p": "p.Ala391Thr",
"transcript": "XM_017010911.2",
"protein_id": "XP_016866400.1",
"transcript_support_level": null,
"aa_start": 391,
"aa_end": null,
"aa_length": 401,
"cds_start": 1171,
"cds_end": null,
"cds_length": 1206,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017010911.2"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35B3",
"gene_hgnc_id": 21601,
"hgvs_c": "c.1084G>A",
"hgvs_p": "p.Ala362Thr",
"transcript": "XM_006715103.4",
"protein_id": "XP_006715166.1",
"transcript_support_level": null,
"aa_start": 362,
"aa_end": null,
"aa_length": 372,
"cds_start": 1084,
"cds_end": null,
"cds_length": 1119,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006715103.4"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35B3",
"gene_hgnc_id": 21601,
"hgvs_c": "c.1078G>A",
"hgvs_p": "p.Ala360Thr",
"transcript": "XM_017010912.3",
"protein_id": "XP_016866401.1",
"transcript_support_level": null,
"aa_start": 360,
"aa_end": null,
"aa_length": 370,
"cds_start": 1078,
"cds_end": null,
"cds_length": 1113,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017010912.3"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35B3",
"gene_hgnc_id": 21601,
"hgvs_c": "c.1078G>A",
"hgvs_p": "p.Ala360Thr",
"transcript": "XM_017010913.2",
"protein_id": "XP_016866402.1",
"transcript_support_level": null,
"aa_start": 360,
"aa_end": null,
"aa_length": 370,
"cds_start": 1078,
"cds_end": null,
"cds_length": 1113,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017010913.2"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35B3",
"gene_hgnc_id": 21601,
"hgvs_c": "c.1075G>A",
"hgvs_p": "p.Ala359Thr",
"transcript": "XM_011514648.2",
"protein_id": "XP_011512950.1",
"transcript_support_level": null,
"aa_start": 359,
"aa_end": null,
"aa_length": 369,
"cds_start": 1075,
"cds_end": null,
"cds_length": 1110,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011514648.2"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35B3",
"gene_hgnc_id": 21601,
"hgvs_c": "c.1075G>A",
"hgvs_p": "p.Ala359Thr",
"transcript": "XM_047418842.1",
"protein_id": "XP_047274798.1",
"transcript_support_level": null,
"aa_start": 359,
"aa_end": null,
"aa_length": 369,
"cds_start": 1075,
"cds_end": null,
"cds_length": 1110,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418842.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35B3",
"gene_hgnc_id": 21601,
"hgvs_c": "c.1075G>A",
"hgvs_p": "p.Ala359Thr",
"transcript": "XM_047418843.1",
"protein_id": "XP_047274799.1",
"transcript_support_level": null,
"aa_start": 359,
"aa_end": null,
"aa_length": 369,
"cds_start": 1075,
"cds_end": null,
"cds_length": 1110,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418843.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35B3",
"gene_hgnc_id": 21601,
"hgvs_c": "c.1075G>A",
"hgvs_p": "p.Ala359Thr",
"transcript": "XM_047418844.1",
"protein_id": "XP_047274800.1",
"transcript_support_level": null,
"aa_start": 359,
"aa_end": null,
"aa_length": 369,
"cds_start": 1075,
"cds_end": null,
"cds_length": 1110,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418844.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35B3",
"gene_hgnc_id": 21601,
"hgvs_c": "c.1075G>A",
"hgvs_p": "p.Ala359Thr",
"transcript": "XM_047418845.1",
"protein_id": "XP_047274801.1",
"transcript_support_level": null,
"aa_start": 359,
"aa_end": null,
"aa_length": 369,
"cds_start": 1075,
"cds_end": null,
"cds_length": 1110,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418845.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35B3",
"gene_hgnc_id": 21601,
"hgvs_c": "c.982G>A",
"hgvs_p": "p.Ala328Thr",
"transcript": "XM_047418848.1",
"protein_id": "XP_047274804.1",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 338,
"cds_start": 982,
"cds_end": null,
"cds_length": 1017,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418848.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35B3",
"gene_hgnc_id": 21601,
"hgvs_c": "n.*461G>A",
"hgvs_p": null,
"transcript": "ENST00000648867.1",
"protein_id": "ENSP00000497645.1",
"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": "ENST00000648867.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35B3",
"gene_hgnc_id": 21601,
"hgvs_c": "n.*461G>A",
"hgvs_p": null,
"transcript": "ENST00000649788.1",
"protein_id": "ENSP00000496851.1",
"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": "ENST00000649788.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35B3",
"gene_hgnc_id": 21601,
"hgvs_c": "n.1674G>A",
"hgvs_p": null,
"transcript": "NR_109913.2",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_109913.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35B3",
"gene_hgnc_id": 21601,
"hgvs_c": "n.1617G>A",
"hgvs_p": null,
"transcript": "NR_109914.2",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_109914.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35B3",
"gene_hgnc_id": 21601,
"hgvs_c": "n.1581G>A",
"hgvs_p": null,
"transcript": "NR_163441.1",
"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": "NR_163441.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35B3",
"gene_hgnc_id": 21601,
"hgvs_c": "n.1341G>A",
"hgvs_p": null,
"transcript": "NR_163442.1",
"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": "NR_163442.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35B3",
"gene_hgnc_id": 21601,
"hgvs_c": "n.*461G>A",
"hgvs_p": null,
"transcript": "ENST00000648867.1",
"protein_id": "ENSP00000497645.1",
"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": "ENST00000648867.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35B3",
"gene_hgnc_id": 21601,
"hgvs_c": "n.*461G>A",
"hgvs_p": null,
"transcript": "ENST00000649788.1",
"protein_id": "ENSP00000496851.1",
"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": "ENST00000649788.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ENSG00000285216",
"gene_hgnc_id": null,
"hgvs_c": "n.561-24379C>T",
"hgvs_p": null,
"transcript": "ENST00000644718.1",
"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": "ENST00000644718.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ENSG00000285216",
"gene_hgnc_id": null,
"hgvs_c": "n.283-24379C>T",
"hgvs_p": null,
"transcript": "ENST00000790387.1",
"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": "ENST00000790387.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ENSG00000285216",
"gene_hgnc_id": null,
"hgvs_c": "n.294-24379C>T",
"hgvs_p": null,
"transcript": "ENST00000790388.1",
"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": "ENST00000790388.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ENSG00000285216",
"gene_hgnc_id": null,
"hgvs_c": "n.435-24379C>T",
"hgvs_p": null,
"transcript": "ENST00000790389.1",
"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": "ENST00000790389.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ENSG00000285216",
"gene_hgnc_id": null,
"hgvs_c": "n.257-24379C>T",
"hgvs_p": null,
"transcript": "ENST00000790390.1",
"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": "ENST00000790390.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ENSG00000232234",
"gene_hgnc_id": null,
"hgvs_c": "n.360-24379C>T",
"hgvs_p": null,
"transcript": "ENST00000791186.1",
"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": "ENST00000791186.1"
}
],
"gene_symbol": "SLC35B3",
"gene_hgnc_id": 21601,
"dbsnp": "rs749208348",
"frequency_reference_population": 0.000022364111,
"hom_count_reference_population": 0,
"allele_count_reference_population": 36,
"gnomad_exomes_af": 0.0000212686,
"gnomad_genomes_af": 0.0000328571,
"gnomad_exomes_ac": 31,
"gnomad_genomes_ac": 5,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.03821897506713867,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.12,
"revel_prediction": "Benign",
"alphamissense_score": 0.0651,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.72,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.477,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_015948.5",
"gene_symbol": "SLC35B3",
"hgnc_id": 21601,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1171G>A",
"hgvs_p": "p.Ala391Thr"
},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000644718.1",
"gene_symbol": "ENSG00000285216",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.561-24379C>T",
"hgvs_p": null
},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000791186.1",
"gene_symbol": "ENSG00000232234",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.360-24379C>T",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}