← 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: 12-56003721-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=56003721&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Strong",
"PP5"
],
"effects": [
"missense_variant"
],
"gene_symbol": "SUOX",
"hgnc_id": 11460,
"hgvs_c": "c.332T>A",
"hgvs_p": "p.Val111Asp",
"inheritance_mode": "AR",
"pathogenic_score": 7,
"score": 7,
"transcript": "NM_000456.3",
"verdict": "Likely_pathogenic"
}
],
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong,PP5",
"acmg_score": 7,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.9815,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.2,
"chr": "12",
"clinvar_classification": "Likely pathogenic",
"clinvar_disease": "Sulfite oxidase deficiency",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.952477216720581,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 545,
"aa_ref": "V",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2319,
"cdna_start": 515,
"cds_end": null,
"cds_length": 1638,
"cds_start": 332,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001032386.2",
"gene_hgnc_id": 11460,
"gene_symbol": "SUOX",
"hgvs_c": "c.332T>A",
"hgvs_p": "p.Val111Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000266971.8",
"protein_coding": true,
"protein_id": "NP_001027558.1",
"strand": true,
"transcript": "NM_001032386.2",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 545,
"aa_ref": "V",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2319,
"cdna_start": 515,
"cds_end": null,
"cds_length": 1638,
"cds_start": 332,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000266971.8",
"gene_hgnc_id": 11460,
"gene_symbol": "SUOX",
"hgvs_c": "c.332T>A",
"hgvs_p": "p.Val111Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001032386.2",
"protein_coding": true,
"protein_id": "ENSP00000266971.3",
"strand": true,
"transcript": "ENST00000266971.8",
"transcript_support_level": 2
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 545,
"aa_ref": "V",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2306,
"cdna_start": 502,
"cds_end": null,
"cds_length": 1638,
"cds_start": 332,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000356124.8",
"gene_hgnc_id": 11460,
"gene_symbol": "SUOX",
"hgvs_c": "c.332T>A",
"hgvs_p": "p.Val111Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000348440.4",
"strand": true,
"transcript": "ENST00000356124.8",
"transcript_support_level": 1
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 545,
"aa_ref": "V",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2860,
"cdna_start": 1056,
"cds_end": null,
"cds_length": 1638,
"cds_start": 332,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000394109.7",
"gene_hgnc_id": 11460,
"gene_symbol": "SUOX",
"hgvs_c": "c.332T>A",
"hgvs_p": "p.Val111Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000377668.3",
"strand": true,
"transcript": "ENST00000394109.7",
"transcript_support_level": 1
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 545,
"aa_ref": "V",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2445,
"cdna_start": 641,
"cds_end": null,
"cds_length": 1638,
"cds_start": 332,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_000456.3",
"gene_hgnc_id": 11460,
"gene_symbol": "SUOX",
"hgvs_c": "c.332T>A",
"hgvs_p": "p.Val111Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_000447.2",
"strand": true,
"transcript": "NM_000456.3",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 545,
"aa_ref": "V",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2210,
"cdna_start": 406,
"cds_end": null,
"cds_length": 1638,
"cds_start": 332,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001032387.2",
"gene_hgnc_id": 11460,
"gene_symbol": "SUOX",
"hgvs_c": "c.332T>A",
"hgvs_p": "p.Val111Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001027559.1",
"strand": true,
"transcript": "NM_001032387.2",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 545,
"aa_ref": "V",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2394,
"cdna_start": 629,
"cds_end": null,
"cds_length": 1638,
"cds_start": 332,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000394115.6",
"gene_hgnc_id": 11460,
"gene_symbol": "SUOX",
"hgvs_c": "c.332T>A",
"hgvs_p": "p.Val111Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000377674.2",
"strand": true,
"transcript": "ENST00000394115.6",
"transcript_support_level": 2
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 545,
"aa_ref": "V",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2352,
"cdna_start": 548,
"cds_end": null,
"cds_length": 1638,
"cds_start": 332,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000548274.5",
"gene_hgnc_id": 11460,
"gene_symbol": "SUOX",
"hgvs_c": "c.332T>A",
"hgvs_p": "p.Val111Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000450245.1",
"strand": true,
"transcript": "ENST00000548274.5",
"transcript_support_level": 5
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 545,
"aa_ref": "V",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2802,
"cdna_start": 999,
"cds_end": null,
"cds_length": 1638,
"cds_start": 332,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000886412.1",
"gene_hgnc_id": 11460,
"gene_symbol": "SUOX",
"hgvs_c": "c.332T>A",
"hgvs_p": "p.Val111Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556471.1",
"strand": true,
"transcript": "ENST00000886412.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 545,
"aa_ref": "V",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2974,
"cdna_start": 1170,
"cds_end": null,
"cds_length": 1638,
"cds_start": 332,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000886413.1",
"gene_hgnc_id": 11460,
"gene_symbol": "SUOX",
"hgvs_c": "c.332T>A",
"hgvs_p": "p.Val111Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556472.1",
"strand": true,
"transcript": "ENST00000886413.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 545,
"aa_ref": "V",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2525,
"cdna_start": 721,
"cds_end": null,
"cds_length": 1638,
"cds_start": 332,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000886414.1",
"gene_hgnc_id": 11460,
"gene_symbol": "SUOX",
"hgvs_c": "c.332T>A",
"hgvs_p": "p.Val111Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556473.1",
"strand": true,
"transcript": "ENST00000886414.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 545,
"aa_ref": "V",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2431,
"cdna_start": 627,
"cds_end": null,
"cds_length": 1638,
"cds_start": 332,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000886415.1",
"gene_hgnc_id": 11460,
"gene_symbol": "SUOX",
"hgvs_c": "c.332T>A",
"hgvs_p": "p.Val111Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556474.1",
"strand": true,
"transcript": "ENST00000886415.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 545,
"aa_ref": "V",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2639,
"cdna_start": 836,
"cds_end": null,
"cds_length": 1638,
"cds_start": 332,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000886416.1",
"gene_hgnc_id": 11460,
"gene_symbol": "SUOX",
"hgvs_c": "c.332T>A",
"hgvs_p": "p.Val111Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556475.1",
"strand": true,
"transcript": "ENST00000886416.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 545,
"aa_ref": "V",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3699,
"cdna_start": 1895,
"cds_end": null,
"cds_length": 1638,
"cds_start": 332,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000886417.1",
"gene_hgnc_id": 11460,
"gene_symbol": "SUOX",
"hgvs_c": "c.332T>A",
"hgvs_p": "p.Val111Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556476.1",
"strand": true,
"transcript": "ENST00000886417.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 545,
"aa_ref": "V",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2383,
"cdna_start": 579,
"cds_end": null,
"cds_length": 1638,
"cds_start": 332,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000886418.1",
"gene_hgnc_id": 11460,
"gene_symbol": "SUOX",
"hgvs_c": "c.332T>A",
"hgvs_p": "p.Val111Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556477.1",
"strand": true,
"transcript": "ENST00000886418.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 545,
"aa_ref": "V",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2785,
"cdna_start": 983,
"cds_end": null,
"cds_length": 1638,
"cds_start": 332,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000886419.1",
"gene_hgnc_id": 11460,
"gene_symbol": "SUOX",
"hgvs_c": "c.332T>A",
"hgvs_p": "p.Val111Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556478.1",
"strand": true,
"transcript": "ENST00000886419.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 545,
"aa_ref": "V",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2703,
"cdna_start": 901,
"cds_end": null,
"cds_length": 1638,
"cds_start": 332,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000886420.1",
"gene_hgnc_id": 11460,
"gene_symbol": "SUOX",
"hgvs_c": "c.332T>A",
"hgvs_p": "p.Val111Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556479.1",
"strand": true,
"transcript": "ENST00000886420.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 545,
"aa_ref": "V",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2481,
"cdna_start": 680,
"cds_end": null,
"cds_length": 1638,
"cds_start": 332,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000886421.1",
"gene_hgnc_id": 11460,
"gene_symbol": "SUOX",
"hgvs_c": "c.332T>A",
"hgvs_p": "p.Val111Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556480.1",
"strand": true,
"transcript": "ENST00000886421.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 545,
"aa_ref": "V",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2669,
"cdna_start": 869,
"cds_end": null,
"cds_length": 1638,
"cds_start": 332,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000886422.1",
"gene_hgnc_id": 11460,
"gene_symbol": "SUOX",
"hgvs_c": "c.332T>A",
"hgvs_p": "p.Val111Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556481.1",
"strand": true,
"transcript": "ENST00000886422.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 545,
"aa_ref": "V",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2307,
"cdna_start": 506,
"cds_end": null,
"cds_length": 1638,
"cds_start": 332,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000886423.1",
"gene_hgnc_id": 11460,
"gene_symbol": "SUOX",
"hgvs_c": "c.332T>A",
"hgvs_p": "p.Val111Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556482.1",
"strand": true,
"transcript": "ENST00000886423.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 545,
"aa_ref": "V",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2439,
"cdna_start": 637,
"cds_end": null,
"cds_length": 1638,
"cds_start": 332,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000886425.1",
"gene_hgnc_id": 11460,
"gene_symbol": "SUOX",
"hgvs_c": "c.332T>A",
"hgvs_p": "p.Val111Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556484.1",
"strand": true,
"transcript": "ENST00000886425.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 545,
"aa_ref": "V",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3745,
"cdna_start": 1943,
"cds_end": null,
"cds_length": 1638,
"cds_start": 332,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000886426.1",
"gene_hgnc_id": 11460,
"gene_symbol": "SUOX",
"hgvs_c": "c.332T>A",
"hgvs_p": "p.Val111Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556485.1",
"strand": true,
"transcript": "ENST00000886426.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 545,
"aa_ref": "V",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2428,
"cdna_start": 624,
"cds_end": null,
"cds_length": 1638,
"cds_start": 332,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000886427.1",
"gene_hgnc_id": 11460,
"gene_symbol": "SUOX",
"hgvs_c": "c.332T>A",
"hgvs_p": "p.Val111Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556486.1",
"strand": true,
"transcript": "ENST00000886427.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 545,
"aa_ref": "V",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2393,
"cdna_start": 591,
"cds_end": null,
"cds_length": 1638,
"cds_start": 332,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000886428.1",
"gene_hgnc_id": 11460,
"gene_symbol": "SUOX",
"hgvs_c": "c.332T>A",
"hgvs_p": "p.Val111Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556487.1",
"strand": true,
"transcript": "ENST00000886428.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 545,
"aa_ref": "V",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2488,
"cdna_start": 687,
"cds_end": null,
"cds_length": 1638,
"cds_start": 332,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000886429.1",
"gene_hgnc_id": 11460,
"gene_symbol": "SUOX",
"hgvs_c": "c.332T>A",
"hgvs_p": "p.Val111Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556488.1",
"strand": true,
"transcript": "ENST00000886429.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 545,
"aa_ref": "V",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2508,
"cdna_start": 707,
"cds_end": null,
"cds_length": 1638,
"cds_start": 332,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000886430.1",
"gene_hgnc_id": 11460,
"gene_symbol": "SUOX",
"hgvs_c": "c.332T>A",
"hgvs_p": "p.Val111Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556489.1",
"strand": true,
"transcript": "ENST00000886430.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 545,
"aa_ref": "V",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2291,
"cdna_start": 491,
"cds_end": null,
"cds_length": 1638,
"cds_start": 332,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000886431.1",
"gene_hgnc_id": 11460,
"gene_symbol": "SUOX",
"hgvs_c": "c.332T>A",
"hgvs_p": "p.Val111Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556490.1",
"strand": true,
"transcript": "ENST00000886431.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 545,
"aa_ref": "V",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2412,
"cdna_start": 611,
"cds_end": null,
"cds_length": 1638,
"cds_start": 332,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000886432.1",
"gene_hgnc_id": 11460,
"gene_symbol": "SUOX",
"hgvs_c": "c.332T>A",
"hgvs_p": "p.Val111Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556491.1",
"strand": true,
"transcript": "ENST00000886432.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 545,
"aa_ref": "V",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2540,
"cdna_start": 738,
"cds_end": null,
"cds_length": 1638,
"cds_start": 332,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000886433.1",
"gene_hgnc_id": 11460,
"gene_symbol": "SUOX",
"hgvs_c": "c.332T>A",
"hgvs_p": "p.Val111Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556492.1",
"strand": true,
"transcript": "ENST00000886433.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 545,
"aa_ref": "V",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2463,
"cdna_start": 659,
"cds_end": null,
"cds_length": 1638,
"cds_start": 332,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000886434.1",
"gene_hgnc_id": 11460,
"gene_symbol": "SUOX",
"hgvs_c": "c.332T>A",
"hgvs_p": "p.Val111Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556493.1",
"strand": true,
"transcript": "ENST00000886434.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 545,
"aa_ref": "V",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2587,
"cdna_start": 785,
"cds_end": null,
"cds_length": 1638,
"cds_start": 332,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000886435.1",
"gene_hgnc_id": 11460,
"gene_symbol": "SUOX",
"hgvs_c": "c.332T>A",
"hgvs_p": "p.Val111Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556494.1",
"strand": true,
"transcript": "ENST00000886435.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 545,
"aa_ref": "V",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2349,
"cdna_start": 547,
"cds_end": null,
"cds_length": 1638,
"cds_start": 332,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000886436.1",
"gene_hgnc_id": 11460,
"gene_symbol": "SUOX",
"hgvs_c": "c.332T>A",
"hgvs_p": "p.Val111Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556495.1",
"strand": true,
"transcript": "ENST00000886436.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 545,
"aa_ref": "V",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2714,
"cdna_start": 914,
"cds_end": null,
"cds_length": 1638,
"cds_start": 332,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000886437.1",
"gene_hgnc_id": 11460,
"gene_symbol": "SUOX",
"hgvs_c": "c.332T>A",
"hgvs_p": "p.Val111Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556496.1",
"strand": true,
"transcript": "ENST00000886437.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 545,
"aa_ref": "V",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2785,
"cdna_start": 985,
"cds_end": null,
"cds_length": 1638,
"cds_start": 332,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000886438.1",
"gene_hgnc_id": 11460,
"gene_symbol": "SUOX",
"hgvs_c": "c.332T>A",
"hgvs_p": "p.Val111Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556497.1",
"strand": true,
"transcript": "ENST00000886438.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 545,
"aa_ref": "V",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2145,
"cdna_start": 579,
"cds_end": null,
"cds_length": 1638,
"cds_start": 332,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000886439.1",
"gene_hgnc_id": 11460,
"gene_symbol": "SUOX",
"hgvs_c": "c.332T>A",
"hgvs_p": "p.Val111Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556498.1",
"strand": true,
"transcript": "ENST00000886439.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 545,
"aa_ref": "V",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4062,
"cdna_start": 2261,
"cds_end": null,
"cds_length": 1638,
"cds_start": 332,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000886440.1",
"gene_hgnc_id": 11460,
"gene_symbol": "SUOX",
"hgvs_c": "c.332T>A",
"hgvs_p": "p.Val111Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556499.1",
"strand": true,
"transcript": "ENST00000886440.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 545,
"aa_ref": "V",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3069,
"cdna_start": 736,
"cds_end": null,
"cds_length": 1638,
"cds_start": 332,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000930303.1",
"gene_hgnc_id": 11460,
"gene_symbol": "SUOX",
"hgvs_c": "c.332T>A",
"hgvs_p": "p.Val111Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000600362.1",
"strand": true,
"transcript": "ENST00000930303.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 545,
"aa_ref": "V",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2207,
"cdna_start": 403,
"cds_end": null,
"cds_length": 1638,
"cds_start": 332,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000930304.1",
"gene_hgnc_id": 11460,
"gene_symbol": "SUOX",
"hgvs_c": "c.332T>A",
"hgvs_p": "p.Val111Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000600363.1",
"strand": true,
"transcript": "ENST00000930304.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 545,
"aa_ref": "V",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2229,
"cdna_start": 425,
"cds_end": null,
"cds_length": 1638,
"cds_start": 332,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000930305.1",
"gene_hgnc_id": 11460,
"gene_symbol": "SUOX",
"hgvs_c": "c.332T>A",
"hgvs_p": "p.Val111Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000600364.1",
"strand": true,
"transcript": "ENST00000930305.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 545,
"aa_ref": "V",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2317,
"cdna_start": 513,
"cds_end": null,
"cds_length": 1638,
"cds_start": 332,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000930306.1",
"gene_hgnc_id": 11460,
"gene_symbol": "SUOX",
"hgvs_c": "c.332T>A",
"hgvs_p": "p.Val111Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000600365.1",
"strand": true,
"transcript": "ENST00000930306.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 545,
"aa_ref": "V",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2358,
"cdna_start": 560,
"cds_end": null,
"cds_length": 1638,
"cds_start": 332,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000930307.1",
"gene_hgnc_id": 11460,
"gene_symbol": "SUOX",
"hgvs_c": "c.332T>A",
"hgvs_p": "p.Val111Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000600366.1",
"strand": true,
"transcript": "ENST00000930307.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 545,
"aa_ref": "V",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2314,
"cdna_start": 512,
"cds_end": null,
"cds_length": 1638,
"cds_start": 332,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000930308.1",
"gene_hgnc_id": 11460,
"gene_symbol": "SUOX",
"hgvs_c": "c.332T>A",
"hgvs_p": "p.Val111Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000600367.1",
"strand": true,
"transcript": "ENST00000930308.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 545,
"aa_ref": "V",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2524,
"cdna_start": 723,
"cds_end": null,
"cds_length": 1638,
"cds_start": 332,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000954614.1",
"gene_hgnc_id": 11460,
"gene_symbol": "SUOX",
"hgvs_c": "c.332T>A",
"hgvs_p": "p.Val111Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000624673.1",
"strand": true,
"transcript": "ENST00000954614.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 545,
"aa_ref": "V",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3642,
"cdna_start": 1841,
"cds_end": null,
"cds_length": 1638,
"cds_start": 332,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000954616.1",
"gene_hgnc_id": 11460,
"gene_symbol": "SUOX",
"hgvs_c": "c.332T>A",
"hgvs_p": "p.Val111Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000624675.1",
"strand": true,
"transcript": "ENST00000954616.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 545,
"aa_ref": "V",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3160,
"cdna_start": 1358,
"cds_end": null,
"cds_length": 1638,
"cds_start": 332,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000954617.1",
"gene_hgnc_id": 11460,
"gene_symbol": "SUOX",
"hgvs_c": "c.332T>A",
"hgvs_p": "p.Val111Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000624676.1",
"strand": true,
"transcript": "ENST00000954617.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 160,
"aa_ref": "V",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 952,
"cdna_start": 799,
"cds_end": null,
"cds_length": 485,
"cds_start": 332,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000546833.5",
"gene_hgnc_id": 11460,
"gene_symbol": "SUOX",
"hgvs_c": "c.332T>A",
"hgvs_p": "p.Val111Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000449872.1",
"strand": true,
"transcript": "ENST00000546833.5",
"transcript_support_level": 5
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 120,
"aa_ref": "V",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 543,
"cdna_start": 512,
"cds_end": null,
"cds_length": 363,
"cds_start": 332,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000552258.5",
"gene_hgnc_id": 11460,
"gene_symbol": "SUOX",
"hgvs_c": "c.332T>A",
"hgvs_p": "p.Val111Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000450049.1",
"strand": true,
"transcript": "ENST00000552258.5",
"transcript_support_level": 4
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 307,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1585,
"cdna_start": null,
"cds_end": null,
"cds_length": 924,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000886424.1",
"gene_hgnc_id": 11460,
"gene_symbol": "SUOX",
"hgvs_c": "c.51-433T>A",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556483.1",
"strand": true,
"transcript": "ENST00000886424.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 307,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1556,
"cdna_start": null,
"cds_end": null,
"cds_length": 924,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000886441.1",
"gene_hgnc_id": 11460,
"gene_symbol": "SUOX",
"hgvs_c": "c.51-433T>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556500.1",
"strand": true,
"transcript": "ENST00000886441.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 307,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2268,
"cdna_start": null,
"cds_end": null,
"cds_length": 924,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000886442.1",
"gene_hgnc_id": 11460,
"gene_symbol": "SUOX",
"hgvs_c": "c.51-433T>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556501.1",
"strand": true,
"transcript": "ENST00000886442.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 307,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1482,
"cdna_start": null,
"cds_end": null,
"cds_length": 924,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000954615.1",
"gene_hgnc_id": 11460,
"gene_symbol": "SUOX",
"hgvs_c": "c.51-433T>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000624674.1",
"strand": true,
"transcript": "ENST00000954615.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 104,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 906,
"cdna_start": null,
"cds_end": null,
"cds_length": 315,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000551841.6",
"gene_hgnc_id": 11460,
"gene_symbol": "SUOX",
"hgvs_c": "c.267+65T>A",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000449443.1",
"strand": true,
"transcript": "ENST00000551841.6",
"transcript_support_level": 3
},
{
"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": 836,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000546712.1",
"gene_hgnc_id": 11460,
"gene_symbol": "SUOX",
"hgvs_c": "n.823T>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": "ENST00000546712.1",
"transcript_support_level": 5
},
{
"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": 2511,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000550065.1",
"gene_hgnc_id": 11460,
"gene_symbol": "SUOX",
"hgvs_c": "n.332T>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000450264.1",
"strand": true,
"transcript": "ENST00000550065.1",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 563,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000550340.5",
"gene_hgnc_id": 11460,
"gene_symbol": "SUOX",
"hgvs_c": "n.217T>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": "ENST00000550340.5",
"transcript_support_level": 4
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 613,
"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": "ENST00000550478.5",
"gene_hgnc_id": 11460,
"gene_symbol": "SUOX",
"hgvs_c": "n.411T>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": "ENST00000550478.5",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 598,
"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": "ENST00000551698.5",
"gene_hgnc_id": 11460,
"gene_symbol": "SUOX",
"hgvs_c": "n.354T>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": "ENST00000551698.5",
"transcript_support_level": 4
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 277,
"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": "ENST00000552363.5",
"gene_hgnc_id": 11460,
"gene_symbol": "SUOX",
"hgvs_c": "n.185T>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": "ENST00000552363.5",
"transcript_support_level": 4
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs794729211",
"effect": "missense_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 11460,
"gene_symbol": "SUOX",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Likely pathogenic",
"phenotype_combined": "Sulfite oxidase deficiency",
"phylop100way_prediction": "Uncertain_significance",
"phylop100way_score": 7.375,
"pos": 56003721,
"ref": "T",
"revel_prediction": "Pathogenic",
"revel_score": 0.866,
"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_000456.3"
}
]
}