← 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: 8-144360935-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=144360935&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Moderate",
"PP5_Very_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "SLC52A2",
"hgnc_id": 30224,
"hgvs_c": "c.1258G>A",
"hgvs_p": "p.Ala420Thr",
"inheritance_mode": "AR",
"pathogenic_score": 12,
"score": 12,
"transcript": "NM_024531.5",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PM2,PP3_Moderate,PP5_Very_Strong",
"acmg_score": 12,
"allele_count_reference_population": 18,
"alphamissense_prediction": null,
"alphamissense_score": 0.1895,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0.1,
"chr": "8",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_disease": "Brown-Vialetto-van Laere syndrome 2,not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:2 LP:2 O:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.9351420402526855,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 445,
"aa_ref": "A",
"aa_start": 420,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2158,
"cdna_start": 1821,
"cds_end": null,
"cds_length": 1338,
"cds_start": 1258,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001363118.2",
"gene_hgnc_id": 30224,
"gene_symbol": "SLC52A2",
"hgvs_c": "c.1258G>A",
"hgvs_p": "p.Ala420Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000643944.2",
"protein_coding": true,
"protein_id": "NP_001350047.1",
"strand": true,
"transcript": "NM_001363118.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 445,
"aa_ref": "A",
"aa_start": 420,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2158,
"cdna_start": 1821,
"cds_end": null,
"cds_length": 1338,
"cds_start": 1258,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000643944.2",
"gene_hgnc_id": 30224,
"gene_symbol": "SLC52A2",
"hgvs_c": "c.1258G>A",
"hgvs_p": "p.Ala420Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001363118.2",
"protein_coding": true,
"protein_id": "ENSP00000496184.2",
"strand": true,
"transcript": "ENST00000643944.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 445,
"aa_ref": "A",
"aa_start": 420,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1910,
"cdna_start": 1559,
"cds_end": null,
"cds_length": 1338,
"cds_start": 1258,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000329994.7",
"gene_hgnc_id": 30224,
"gene_symbol": "SLC52A2",
"hgvs_c": "c.1258G>A",
"hgvs_p": "p.Ala420Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000333638.2",
"strand": true,
"transcript": "ENST00000329994.7",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 445,
"aa_ref": "A",
"aa_start": 420,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1747,
"cdna_start": 1410,
"cds_end": null,
"cds_length": 1338,
"cds_start": 1258,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001253815.2",
"gene_hgnc_id": 30224,
"gene_symbol": "SLC52A2",
"hgvs_c": "c.1258G>A",
"hgvs_p": "p.Ala420Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001240744.1",
"strand": true,
"transcript": "NM_001253815.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 445,
"aa_ref": "A",
"aa_start": 420,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1764,
"cdna_start": 1427,
"cds_end": null,
"cds_length": 1338,
"cds_start": 1258,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001253816.2",
"gene_hgnc_id": 30224,
"gene_symbol": "SLC52A2",
"hgvs_c": "c.1258G>A",
"hgvs_p": "p.Ala420Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001240745.1",
"strand": true,
"transcript": "NM_001253816.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 445,
"aa_ref": "A",
"aa_start": 420,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1993,
"cdna_start": 1656,
"cds_end": null,
"cds_length": 1338,
"cds_start": 1258,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001363120.2",
"gene_hgnc_id": 30224,
"gene_symbol": "SLC52A2",
"hgvs_c": "c.1258G>A",
"hgvs_p": "p.Ala420Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001350049.1",
"strand": true,
"transcript": "NM_001363120.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 445,
"aa_ref": "A",
"aa_start": 420,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2154,
"cdna_start": 1817,
"cds_end": null,
"cds_length": 1338,
"cds_start": 1258,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001363121.2",
"gene_hgnc_id": 30224,
"gene_symbol": "SLC52A2",
"hgvs_c": "c.1258G>A",
"hgvs_p": "p.Ala420Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001350050.1",
"strand": true,
"transcript": "NM_001363121.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 445,
"aa_ref": "A",
"aa_start": 420,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1989,
"cdna_start": 1652,
"cds_end": null,
"cds_length": 1338,
"cds_start": 1258,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001438495.1",
"gene_hgnc_id": 30224,
"gene_symbol": "SLC52A2",
"hgvs_c": "c.1258G>A",
"hgvs_p": "p.Ala420Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001425424.1",
"strand": true,
"transcript": "NM_001438495.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 445,
"aa_ref": "A",
"aa_start": 420,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1748,
"cdna_start": 1411,
"cds_end": null,
"cds_length": 1338,
"cds_start": 1258,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001438496.1",
"gene_hgnc_id": 30224,
"gene_symbol": "SLC52A2",
"hgvs_c": "c.1258G>A",
"hgvs_p": "p.Ala420Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001425425.1",
"strand": true,
"transcript": "NM_001438496.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 445,
"aa_ref": "A",
"aa_start": 420,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1872,
"cdna_start": 1535,
"cds_end": null,
"cds_length": 1338,
"cds_start": 1258,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001438497.1",
"gene_hgnc_id": 30224,
"gene_symbol": "SLC52A2",
"hgvs_c": "c.1258G>A",
"hgvs_p": "p.Ala420Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001425426.1",
"strand": true,
"transcript": "NM_001438497.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 445,
"aa_ref": "A",
"aa_start": 420,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1876,
"cdna_start": 1539,
"cds_end": null,
"cds_length": 1338,
"cds_start": 1258,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_024531.5",
"gene_hgnc_id": 30224,
"gene_symbol": "SLC52A2",
"hgvs_c": "c.1258G>A",
"hgvs_p": "p.Ala420Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_078807.1",
"strand": true,
"transcript": "NM_024531.5",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 445,
"aa_ref": "A",
"aa_start": 420,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1777,
"cdna_start": 1442,
"cds_end": null,
"cds_length": 1338,
"cds_start": 1258,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000402965.5",
"gene_hgnc_id": 30224,
"gene_symbol": "SLC52A2",
"hgvs_c": "c.1258G>A",
"hgvs_p": "p.Ala420Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000385961.1",
"strand": true,
"transcript": "ENST00000402965.5",
"transcript_support_level": 2
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 445,
"aa_ref": "A",
"aa_start": 420,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2041,
"cdna_start": 1704,
"cds_end": null,
"cds_length": 1338,
"cds_start": 1258,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000527078.6",
"gene_hgnc_id": 30224,
"gene_symbol": "SLC52A2",
"hgvs_c": "c.1258G>A",
"hgvs_p": "p.Ala420Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000434728.1",
"strand": true,
"transcript": "ENST00000527078.6",
"transcript_support_level": 5
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 445,
"aa_ref": "A",
"aa_start": 420,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1757,
"cdna_start": 1422,
"cds_end": null,
"cds_length": 1338,
"cds_start": 1258,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000530047.5",
"gene_hgnc_id": 30224,
"gene_symbol": "SLC52A2",
"hgvs_c": "c.1258G>A",
"hgvs_p": "p.Ala420Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000435820.1",
"strand": true,
"transcript": "ENST00000530047.5",
"transcript_support_level": 2
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 445,
"aa_ref": "A",
"aa_start": 420,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2104,
"cdna_start": 1767,
"cds_end": null,
"cds_length": 1338,
"cds_start": 1258,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000532815.2",
"gene_hgnc_id": 30224,
"gene_symbol": "SLC52A2",
"hgvs_c": "c.1258G>A",
"hgvs_p": "p.Ala420Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000501933.1",
"strand": true,
"transcript": "ENST00000532815.2",
"transcript_support_level": 4
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 445,
"aa_ref": "A",
"aa_start": 420,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2294,
"cdna_start": 1957,
"cds_end": null,
"cds_length": 1338,
"cds_start": 1258,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000533662.2",
"gene_hgnc_id": 30224,
"gene_symbol": "SLC52A2",
"hgvs_c": "c.1258G>A",
"hgvs_p": "p.Ala420Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502274.1",
"strand": true,
"transcript": "ENST00000533662.2",
"transcript_support_level": 2
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 445,
"aa_ref": "A",
"aa_start": 420,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2172,
"cdna_start": 1835,
"cds_end": null,
"cds_length": 1338,
"cds_start": 1258,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000534725.6",
"gene_hgnc_id": 30224,
"gene_symbol": "SLC52A2",
"hgvs_c": "c.1258G>A",
"hgvs_p": "p.Ala420Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000431965.2",
"strand": true,
"transcript": "ENST00000534725.6",
"transcript_support_level": 2
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 445,
"aa_ref": "A",
"aa_start": 420,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1696,
"cdna_start": 1359,
"cds_end": null,
"cds_length": 1338,
"cds_start": 1258,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000674870.1",
"gene_hgnc_id": 30224,
"gene_symbol": "SLC52A2",
"hgvs_c": "c.1258G>A",
"hgvs_p": "p.Ala420Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502406.1",
"strand": true,
"transcript": "ENST00000674870.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 445,
"aa_ref": "A",
"aa_start": 420,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1740,
"cdna_start": 1403,
"cds_end": null,
"cds_length": 1338,
"cds_start": 1258,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000675121.1",
"gene_hgnc_id": 30224,
"gene_symbol": "SLC52A2",
"hgvs_c": "c.1258G>A",
"hgvs_p": "p.Ala420Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000501993.1",
"strand": true,
"transcript": "ENST00000675121.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 445,
"aa_ref": "A",
"aa_start": 420,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1879,
"cdna_start": 1542,
"cds_end": null,
"cds_length": 1338,
"cds_start": 1258,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000675280.1",
"gene_hgnc_id": 30224,
"gene_symbol": "SLC52A2",
"hgvs_c": "c.1258G>A",
"hgvs_p": "p.Ala420Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502796.1",
"strand": true,
"transcript": "ENST00000675280.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 445,
"aa_ref": "A",
"aa_start": 420,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2099,
"cdna_start": 1762,
"cds_end": null,
"cds_length": 1338,
"cds_start": 1258,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000675292.1",
"gene_hgnc_id": 30224,
"gene_symbol": "SLC52A2",
"hgvs_c": "c.1258G>A",
"hgvs_p": "p.Ala420Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502652.1",
"strand": true,
"transcript": "ENST00000675292.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 445,
"aa_ref": "A",
"aa_start": 420,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1840,
"cdna_start": 1523,
"cds_end": null,
"cds_length": 1338,
"cds_start": 1258,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000675888.1",
"gene_hgnc_id": 30224,
"gene_symbol": "SLC52A2",
"hgvs_c": "c.1258G>A",
"hgvs_p": "p.Ala420Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502294.1",
"strand": true,
"transcript": "ENST00000675888.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 445,
"aa_ref": "A",
"aa_start": 420,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1921,
"cdna_start": 1409,
"cds_end": null,
"cds_length": 1338,
"cds_start": 1258,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000876534.1",
"gene_hgnc_id": 30224,
"gene_symbol": "SLC52A2",
"hgvs_c": "c.1258G>A",
"hgvs_p": "p.Ala420Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000546593.1",
"strand": true,
"transcript": "ENST00000876534.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 445,
"aa_ref": "A",
"aa_start": 420,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1737,
"cdna_start": 1400,
"cds_end": null,
"cds_length": 1338,
"cds_start": 1258,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000876535.1",
"gene_hgnc_id": 30224,
"gene_symbol": "SLC52A2",
"hgvs_c": "c.1258G>A",
"hgvs_p": "p.Ala420Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000546594.1",
"strand": true,
"transcript": "ENST00000876535.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 445,
"aa_ref": "A",
"aa_start": 420,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1904,
"cdna_start": 1567,
"cds_end": null,
"cds_length": 1338,
"cds_start": 1258,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000876536.1",
"gene_hgnc_id": 30224,
"gene_symbol": "SLC52A2",
"hgvs_c": "c.1258G>A",
"hgvs_p": "p.Ala420Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000546595.1",
"strand": true,
"transcript": "ENST00000876536.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 445,
"aa_ref": "A",
"aa_start": 420,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2001,
"cdna_start": 1664,
"cds_end": null,
"cds_length": 1338,
"cds_start": 1258,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000876537.1",
"gene_hgnc_id": 30224,
"gene_symbol": "SLC52A2",
"hgvs_c": "c.1258G>A",
"hgvs_p": "p.Ala420Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000546596.1",
"strand": true,
"transcript": "ENST00000876537.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 445,
"aa_ref": "A",
"aa_start": 420,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1811,
"cdna_start": 1474,
"cds_end": null,
"cds_length": 1338,
"cds_start": 1258,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000913643.1",
"gene_hgnc_id": 30224,
"gene_symbol": "SLC52A2",
"hgvs_c": "c.1258G>A",
"hgvs_p": "p.Ala420Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000583702.1",
"strand": true,
"transcript": "ENST00000913643.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 445,
"aa_ref": "A",
"aa_start": 420,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2178,
"cdna_start": 1841,
"cds_end": null,
"cds_length": 1338,
"cds_start": 1258,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000913647.1",
"gene_hgnc_id": 30224,
"gene_symbol": "SLC52A2",
"hgvs_c": "c.1258G>A",
"hgvs_p": "p.Ala420Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000583706.1",
"strand": true,
"transcript": "ENST00000913647.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 445,
"aa_ref": "A",
"aa_start": 420,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1949,
"cdna_start": 1610,
"cds_end": null,
"cds_length": 1338,
"cds_start": 1258,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000948701.1",
"gene_hgnc_id": 30224,
"gene_symbol": "SLC52A2",
"hgvs_c": "c.1258G>A",
"hgvs_p": "p.Ala420Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000618760.1",
"strand": true,
"transcript": "ENST00000948701.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 445,
"aa_ref": "A",
"aa_start": 420,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1971,
"cdna_start": 1634,
"cds_end": null,
"cds_length": 1338,
"cds_start": 1258,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000948702.1",
"gene_hgnc_id": 30224,
"gene_symbol": "SLC52A2",
"hgvs_c": "c.1258G>A",
"hgvs_p": "p.Ala420Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000618761.1",
"strand": true,
"transcript": "ENST00000948702.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 445,
"aa_ref": "A",
"aa_start": 420,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1965,
"cdna_start": 1632,
"cds_end": null,
"cds_length": 1338,
"cds_start": 1258,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000948703.1",
"gene_hgnc_id": 30224,
"gene_symbol": "SLC52A2",
"hgvs_c": "c.1258G>A",
"hgvs_p": "p.Ala420Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000618762.1",
"strand": true,
"transcript": "ENST00000948703.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 444,
"aa_ref": "A",
"aa_start": 419,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2210,
"cdna_start": 1870,
"cds_end": null,
"cds_length": 1335,
"cds_start": 1255,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000913644.1",
"gene_hgnc_id": 30224,
"gene_symbol": "SLC52A2",
"hgvs_c": "c.1255G>A",
"hgvs_p": "p.Ala419Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000583703.1",
"strand": true,
"transcript": "ENST00000913644.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 439,
"aa_ref": "R",
"aa_start": 416,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1690,
"cdna_start": 1353,
"cds_end": null,
"cds_length": 1320,
"cds_start": 1247,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000675787.1",
"gene_hgnc_id": 30224,
"gene_symbol": "SLC52A2",
"hgvs_c": "c.1247G>A",
"hgvs_p": "p.Arg416His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502189.1",
"strand": true,
"transcript": "ENST00000675787.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 435,
"aa_ref": "A",
"aa_start": 410,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2164,
"cdna_start": 1827,
"cds_end": null,
"cds_length": 1308,
"cds_start": 1228,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000913646.1",
"gene_hgnc_id": 30224,
"gene_symbol": "SLC52A2",
"hgvs_c": "c.1228G>A",
"hgvs_p": "p.Ala410Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000583705.1",
"strand": true,
"transcript": "ENST00000913646.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 435,
"aa_ref": "A",
"aa_start": 410,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1707,
"cdna_start": 1373,
"cds_end": null,
"cds_length": 1308,
"cds_start": 1228,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000948695.1",
"gene_hgnc_id": 30224,
"gene_symbol": "SLC52A2",
"hgvs_c": "c.1228G>A",
"hgvs_p": "p.Ala410Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000618754.1",
"strand": true,
"transcript": "ENST00000948695.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 357,
"aa_ref": "A",
"aa_start": 332,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1530,
"cdna_start": 1193,
"cds_end": null,
"cds_length": 1074,
"cds_start": 994,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001410949.1",
"gene_hgnc_id": 30224,
"gene_symbol": "SLC52A2",
"hgvs_c": "c.994G>A",
"hgvs_p": "p.Ala332Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001397878.1",
"strand": true,
"transcript": "NM_001410949.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 357,
"aa_ref": "A",
"aa_start": 332,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1676,
"cdna_start": 1341,
"cds_end": null,
"cds_length": 1074,
"cds_start": 994,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000526891.2",
"gene_hgnc_id": 30224,
"gene_symbol": "SLC52A2",
"hgvs_c": "c.994G>A",
"hgvs_p": "p.Ala332Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502670.1",
"strand": true,
"transcript": "ENST00000526891.2",
"transcript_support_level": 4
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 281,
"aa_ref": "A",
"aa_start": 256,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1384,
"cdna_start": 1047,
"cds_end": null,
"cds_length": 846,
"cds_start": 766,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001363122.2",
"gene_hgnc_id": 30224,
"gene_symbol": "SLC52A2",
"hgvs_c": "c.766G>A",
"hgvs_p": "p.Ala256Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001350051.1",
"strand": true,
"transcript": "NM_001363122.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 281,
"aa_ref": "A",
"aa_start": 256,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1666,
"cdna_start": 1329,
"cds_end": null,
"cds_length": 846,
"cds_start": 766,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001438089.1",
"gene_hgnc_id": 30224,
"gene_symbol": "SLC52A2",
"hgvs_c": "c.766G>A",
"hgvs_p": "p.Ala256Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001425018.1",
"strand": true,
"transcript": "NM_001438089.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 281,
"aa_ref": "A",
"aa_start": 256,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1260,
"cdna_start": 923,
"cds_end": null,
"cds_length": 846,
"cds_start": 766,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001438494.1",
"gene_hgnc_id": 30224,
"gene_symbol": "SLC52A2",
"hgvs_c": "c.766G>A",
"hgvs_p": "p.Ala256Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001425423.1",
"strand": true,
"transcript": "NM_001438494.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 281,
"aa_ref": "A",
"aa_start": 256,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1501,
"cdna_start": 1164,
"cds_end": null,
"cds_length": 846,
"cds_start": 766,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001438498.1",
"gene_hgnc_id": 30224,
"gene_symbol": "SLC52A2",
"hgvs_c": "c.766G>A",
"hgvs_p": "p.Ala256Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001425427.1",
"strand": true,
"transcript": "NM_001438498.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 281,
"aa_ref": "A",
"aa_start": 256,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1662,
"cdna_start": 1325,
"cds_end": null,
"cds_length": 846,
"cds_start": 766,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001438499.1",
"gene_hgnc_id": 30224,
"gene_symbol": "SLC52A2",
"hgvs_c": "c.766G>A",
"hgvs_p": "p.Ala256Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001425428.1",
"strand": true,
"transcript": "NM_001438499.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 281,
"aa_ref": "A",
"aa_start": 256,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1247,
"cdna_start": 910,
"cds_end": null,
"cds_length": 846,
"cds_start": 766,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000526338.7",
"gene_hgnc_id": 30224,
"gene_symbol": "SLC52A2",
"hgvs_c": "c.766G>A",
"hgvs_p": "p.Ala256Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000433583.3",
"strand": true,
"transcript": "ENST00000526338.7",
"transcript_support_level": 3
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 281,
"aa_ref": "A",
"aa_start": 256,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1504,
"cdna_start": 1334,
"cds_end": null,
"cds_length": 846,
"cds_start": 766,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000674929.1",
"gene_hgnc_id": 30224,
"gene_symbol": "SLC52A2",
"hgvs_c": "c.766G>A",
"hgvs_p": "p.Ala256Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000501554.1",
"strand": true,
"transcript": "ENST00000674929.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 281,
"aa_ref": "A",
"aa_start": 256,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1673,
"cdna_start": 1336,
"cds_end": null,
"cds_length": 846,
"cds_start": 766,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000675597.1",
"gene_hgnc_id": 30224,
"gene_symbol": "SLC52A2",
"hgvs_c": "c.766G>A",
"hgvs_p": "p.Ala256Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000501973.1",
"strand": true,
"transcript": "ENST00000675597.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 281,
"aa_ref": "A",
"aa_start": 256,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1259,
"cdna_start": 922,
"cds_end": null,
"cds_length": 846,
"cds_start": 766,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000913645.1",
"gene_hgnc_id": 30224,
"gene_symbol": "SLC52A2",
"hgvs_c": "c.766G>A",
"hgvs_p": "p.Ala256Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000583704.1",
"strand": true,
"transcript": "ENST00000913645.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 281,
"aa_ref": "A",
"aa_start": 256,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1253,
"cdna_start": 919,
"cds_end": null,
"cds_length": 846,
"cds_start": 766,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000913648.1",
"gene_hgnc_id": 30224,
"gene_symbol": "SLC52A2",
"hgvs_c": "c.766G>A",
"hgvs_p": "p.Ala256Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000583707.1",
"strand": true,
"transcript": "ENST00000913648.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 281,
"aa_ref": "A",
"aa_start": 256,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1523,
"cdna_start": 1184,
"cds_end": null,
"cds_length": 846,
"cds_start": 766,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000948697.1",
"gene_hgnc_id": 30224,
"gene_symbol": "SLC52A2",
"hgvs_c": "c.766G>A",
"hgvs_p": "p.Ala256Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000618756.1",
"strand": true,
"transcript": "ENST00000948697.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 281,
"aa_ref": "A",
"aa_start": 256,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1402,
"cdna_start": 1068,
"cds_end": null,
"cds_length": 846,
"cds_start": 766,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000948698.1",
"gene_hgnc_id": 30224,
"gene_symbol": "SLC52A2",
"hgvs_c": "c.766G>A",
"hgvs_p": "p.Ala256Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000618757.1",
"strand": true,
"transcript": "ENST00000948698.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 281,
"aa_ref": "A",
"aa_start": 256,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1801,
"cdna_start": 1467,
"cds_end": null,
"cds_length": 846,
"cds_start": 766,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000948699.1",
"gene_hgnc_id": 30224,
"gene_symbol": "SLC52A2",
"hgvs_c": "c.766G>A",
"hgvs_p": "p.Ala256Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000618758.1",
"strand": true,
"transcript": "ENST00000948699.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 262,
"aa_ref": "A",
"aa_start": 237,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1152,
"cdna_start": 815,
"cds_end": null,
"cds_length": 789,
"cds_start": 709,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000676094.1",
"gene_hgnc_id": 30224,
"gene_symbol": "SLC52A2",
"hgvs_c": "c.709G>A",
"hgvs_p": "p.Ala237Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502066.1",
"strand": true,
"transcript": "ENST00000676094.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 155,
"aa_ref": "A",
"aa_start": 130,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1301,
"cdna_start": 964,
"cds_end": null,
"cds_length": 468,
"cds_start": 388,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000948700.1",
"gene_hgnc_id": 30224,
"gene_symbol": "SLC52A2",
"hgvs_c": "c.388G>A",
"hgvs_p": "p.Ala130Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000618759.1",
"strand": true,
"transcript": "ENST00000948700.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 148,
"aa_ref": "A",
"aa_start": 123,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1289,
"cdna_start": 951,
"cds_end": null,
"cds_length": 447,
"cds_start": 367,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000948696.1",
"gene_hgnc_id": 30224,
"gene_symbol": "SLC52A2",
"hgvs_c": "c.367G>A",
"hgvs_p": "p.Ala123Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000618755.1",
"strand": true,
"transcript": "ENST00000948696.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 111,
"aa_ref": "R",
"aa_start": 88,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 727,
"cdna_start": 390,
"cds_end": null,
"cds_length": 336,
"cds_start": 263,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000526752.3",
"gene_hgnc_id": 30224,
"gene_symbol": "SLC52A2",
"hgvs_c": "c.263G>A",
"hgvs_p": "p.Arg88His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000433796.1",
"strand": true,
"transcript": "ENST00000526752.3",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1239,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000674779.1",
"gene_hgnc_id": 30224,
"gene_symbol": "SLC52A2",
"hgvs_c": "n.*570G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000501929.1",
"strand": true,
"transcript": "ENST00000674779.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1799,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000674821.1",
"gene_hgnc_id": 30224,
"gene_symbol": "SLC52A2",
"hgvs_c": "n.*1062G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000502219.1",
"strand": true,
"transcript": "ENST00000674821.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 1243,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000675998.1",
"gene_hgnc_id": 30224,
"gene_symbol": "SLC52A2",
"hgvs_c": "n.906G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000675998.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1780,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000676358.1",
"gene_hgnc_id": 30224,
"gene_symbol": "SLC52A2",
"hgvs_c": "n.*570G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000501821.1",
"strand": true,
"transcript": "ENST00000676358.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 2055,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NR_045600.2",
"gene_hgnc_id": 30224,
"gene_symbol": "SLC52A2",
"hgvs_c": "n.1718G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "NR_045600.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1239,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000674779.1",
"gene_hgnc_id": 30224,
"gene_symbol": "SLC52A2",
"hgvs_c": "n.*570G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000501929.1",
"strand": true,
"transcript": "ENST00000674779.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1799,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000674821.1",
"gene_hgnc_id": 30224,
"gene_symbol": "SLC52A2",
"hgvs_c": "n.*1062G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000502219.1",
"strand": true,
"transcript": "ENST00000674821.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1780,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000676358.1",
"gene_hgnc_id": 30224,
"gene_symbol": "SLC52A2",
"hgvs_c": "n.*570G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000501821.1",
"strand": true,
"transcript": "ENST00000676358.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 942,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000526779.3",
"gene_hgnc_id": 30224,
"gene_symbol": "SLC52A2",
"hgvs_c": "n.*570G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000436917.1",
"strand": true,
"transcript": "ENST00000526779.3",
"transcript_support_level": 5
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs368924997",
"effect": "missense_variant",
"frequency_reference_population": 0.000011157228,
"gene_hgnc_id": 30224,
"gene_symbol": "SLC52A2",
"gnomad_exomes_ac": 16,
"gnomad_exomes_af": 0.0000109504,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 2,
"gnomad_genomes_af": 0.000013143,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"phenotype_combined": "not provided|Brown-Vialetto-van Laere syndrome 2",
"phylop100way_prediction": "Pathogenic",
"phylop100way_score": 7.596,
"pos": 144360935,
"ref": "G",
"revel_prediction": "Pathogenic",
"revel_score": 0.855,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.009999999776482582,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0.01,
"transcript": "NM_024531.5"
}
]
}