← 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: 1-99993597-TT-AG (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=99993597&ref=TT&alt=AG&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "SLC35A3",
"hgnc_id": 11023,
"hgvs_c": "c.169_170delTTinsAG",
"hgvs_p": "p.Phe57Ser",
"inheritance_mode": "AR",
"pathogenic_score": 1,
"score": 1,
"transcript": "NM_001271685.2",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ENSG00000283761",
"hgnc_id": null,
"hgvs_c": "c.43_44delTTinsAG",
"hgvs_p": "p.Phe15Ser",
"inheritance_mode": "",
"pathogenic_score": 1,
"score": 1,
"transcript": "ENST00000639037.1",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PP3"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000288826",
"hgnc_id": null,
"hgvs_c": "n.278+44132_278+44133delAAinsCT",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 1,
"score": 1,
"transcript": "ENST00000840838.1",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PP3"
],
"effects": [
"intron_variant"
],
"gene_symbol": "LOC124904230",
"hgnc_id": null,
"hgvs_c": "n.279+44132_279+44133delAAinsCT",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 1,
"score": 1,
"transcript": "XR_007066243.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3",
"acmg_score": 1,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "AG",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "1",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 325,
"aa_ref": "F",
"aa_start": 15,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14321,
"cdna_start": 228,
"cds_end": null,
"cds_length": 978,
"cds_start": 43,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_012243.3",
"gene_hgnc_id": 11023,
"gene_symbol": "SLC35A3",
"hgvs_c": "c.43_44delTTinsAG",
"hgvs_p": "p.Phe15Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000533028.8",
"protein_coding": true,
"protein_id": "NP_036375.1",
"strand": true,
"transcript": "NM_012243.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 325,
"aa_ref": "F",
"aa_start": 15,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 14321,
"cdna_start": 228,
"cds_end": null,
"cds_length": 978,
"cds_start": 43,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000533028.8",
"gene_hgnc_id": 11023,
"gene_symbol": "SLC35A3",
"hgvs_c": "c.43_44delTTinsAG",
"hgvs_p": "p.Phe15Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_012243.3",
"protein_coding": true,
"protein_id": "ENSP00000433849.1",
"strand": true,
"transcript": "ENST00000533028.8",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 713,
"aa_ref": "F",
"aa_start": 15,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2590,
"cdna_start": 206,
"cds_end": null,
"cds_length": 2142,
"cds_start": 43,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000639037.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000283761",
"hgvs_c": "c.43_44delTTinsAG",
"hgvs_p": "p.Phe15Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000492745.1",
"strand": true,
"transcript": "ENST00000639037.1",
"transcript_support_level": 5
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 220,
"aa_ref": "F",
"aa_start": 15,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2438,
"cdna_start": 218,
"cds_end": null,
"cds_length": 663,
"cds_start": 43,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000638336.1",
"gene_hgnc_id": 11023,
"gene_symbol": "SLC35A3",
"hgvs_c": "c.43_44delTTinsAG",
"hgvs_p": "p.Phe15Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000491145.1",
"strand": true,
"transcript": "ENST00000638336.1",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 689,
"aa_ref": "F",
"aa_start": 15,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2729,
"cdna_start": 213,
"cds_end": null,
"cds_length": 2070,
"cds_start": 43,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000638792.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000283761",
"hgvs_c": "c.43_44delTTinsAG",
"hgvs_p": "p.Phe15Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000491854.1",
"strand": true,
"transcript": "ENST00000638792.1",
"transcript_support_level": 5
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 367,
"aa_ref": "F",
"aa_start": 57,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14282,
"cdna_start": 189,
"cds_end": null,
"cds_length": 1104,
"cds_start": 169,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001271685.2",
"gene_hgnc_id": 11023,
"gene_symbol": "SLC35A3",
"hgvs_c": "c.169_170delTTinsAG",
"hgvs_p": "p.Phe57Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001258614.1",
"strand": true,
"transcript": "NM_001271685.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 367,
"aa_ref": "F",
"aa_start": 57,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5708,
"cdna_start": 270,
"cds_end": null,
"cds_length": 1104,
"cds_start": 169,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000370153.6",
"gene_hgnc_id": 11023,
"gene_symbol": "SLC35A3",
"hgvs_c": "c.169_170delTTinsAG",
"hgvs_p": "p.Phe57Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000359172.1",
"strand": true,
"transcript": "ENST00000370153.6",
"transcript_support_level": 5
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 328,
"aa_ref": "F",
"aa_start": 15,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3341,
"cdna_start": 290,
"cds_end": null,
"cds_length": 987,
"cds_start": 43,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000640600.1",
"gene_hgnc_id": 11023,
"gene_symbol": "SLC35A3",
"hgvs_c": "c.43_44delTTinsAG",
"hgvs_p": "p.Phe15Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000491789.1",
"strand": true,
"transcript": "ENST00000640600.1",
"transcript_support_level": 5
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 325,
"aa_ref": "F",
"aa_start": 15,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14420,
"cdna_start": 327,
"cds_end": null,
"cds_length": 978,
"cds_start": 43,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001438725.1",
"gene_hgnc_id": 11023,
"gene_symbol": "SLC35A3",
"hgvs_c": "c.43_44delTTinsAG",
"hgvs_p": "p.Phe15Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001425654.1",
"strand": true,
"transcript": "NM_001438725.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 325,
"aa_ref": "F",
"aa_start": 15,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2062,
"cdna_start": 344,
"cds_end": null,
"cds_length": 978,
"cds_start": 43,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000427993.7",
"gene_hgnc_id": 11023,
"gene_symbol": "SLC35A3",
"hgvs_c": "c.43_44delTTinsAG",
"hgvs_p": "p.Phe15Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000414947.2",
"strand": true,
"transcript": "ENST00000427993.7",
"transcript_support_level": 5
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 325,
"aa_ref": "F",
"aa_start": 15,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5696,
"cdna_start": 349,
"cds_end": null,
"cds_length": 978,
"cds_start": 43,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000465289.6",
"gene_hgnc_id": 11023,
"gene_symbol": "SLC35A3",
"hgvs_c": "c.43_44delTTinsAG",
"hgvs_p": "p.Phe15Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000418527.2",
"strand": true,
"transcript": "ENST00000465289.6",
"transcript_support_level": 5
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 325,
"aa_ref": "F",
"aa_start": 15,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3252,
"cdna_start": 224,
"cds_end": null,
"cds_length": 978,
"cds_start": 43,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000852947.1",
"gene_hgnc_id": 11023,
"gene_symbol": "SLC35A3",
"hgvs_c": "c.43_44delTTinsAG",
"hgvs_p": "p.Phe15Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523006.1",
"strand": true,
"transcript": "ENST00000852947.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 325,
"aa_ref": "F",
"aa_start": 15,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2759,
"cdna_start": 294,
"cds_end": null,
"cds_length": 978,
"cds_start": 43,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000852948.1",
"gene_hgnc_id": 11023,
"gene_symbol": "SLC35A3",
"hgvs_c": "c.43_44delTTinsAG",
"hgvs_p": "p.Phe15Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523007.1",
"strand": true,
"transcript": "ENST00000852948.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 325,
"aa_ref": "F",
"aa_start": 15,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2506,
"cdna_start": 594,
"cds_end": null,
"cds_length": 978,
"cds_start": 43,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000852950.1",
"gene_hgnc_id": 11023,
"gene_symbol": "SLC35A3",
"hgvs_c": "c.43_44delTTinsAG",
"hgvs_p": "p.Phe15Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523009.1",
"strand": true,
"transcript": "ENST00000852950.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 325,
"aa_ref": "F",
"aa_start": 15,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2335,
"cdna_start": 424,
"cds_end": null,
"cds_length": 978,
"cds_start": 43,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000852953.1",
"gene_hgnc_id": 11023,
"gene_symbol": "SLC35A3",
"hgvs_c": "c.43_44delTTinsAG",
"hgvs_p": "p.Phe15Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523012.1",
"strand": true,
"transcript": "ENST00000852953.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 325,
"aa_ref": "F",
"aa_start": 15,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2930,
"cdna_start": 444,
"cds_end": null,
"cds_length": 978,
"cds_start": 43,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000952985.1",
"gene_hgnc_id": 11023,
"gene_symbol": "SLC35A3",
"hgvs_c": "c.43_44delTTinsAG",
"hgvs_p": "p.Phe15Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000623044.1",
"strand": true,
"transcript": "ENST00000952985.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 325,
"aa_ref": "F",
"aa_start": 15,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2290,
"cdna_start": 382,
"cds_end": null,
"cds_length": 978,
"cds_start": 43,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000952986.1",
"gene_hgnc_id": 11023,
"gene_symbol": "SLC35A3",
"hgvs_c": "c.43_44delTTinsAG",
"hgvs_p": "p.Phe15Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000623045.1",
"strand": true,
"transcript": "ENST00000952986.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 324,
"aa_ref": "F",
"aa_start": 15,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2393,
"cdna_start": 487,
"cds_end": null,
"cds_length": 975,
"cds_start": 43,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000852951.1",
"gene_hgnc_id": 11023,
"gene_symbol": "SLC35A3",
"hgvs_c": "c.43_44delTTinsAG",
"hgvs_p": "p.Phe15Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523010.1",
"strand": true,
"transcript": "ENST00000852951.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 318,
"aa_ref": "F",
"aa_start": 15,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2298,
"cdna_start": 873,
"cds_end": null,
"cds_length": 957,
"cds_start": 43,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000638371.1",
"gene_hgnc_id": 11023,
"gene_symbol": "SLC35A3",
"hgvs_c": "c.43_44delTTinsAG",
"hgvs_p": "p.Phe15Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000491146.1",
"strand": true,
"transcript": "ENST00000638371.1",
"transcript_support_level": 5
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 315,
"aa_ref": "F",
"aa_start": 15,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2890,
"cdna_start": 188,
"cds_end": null,
"cds_length": 948,
"cds_start": 43,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000638338.1",
"gene_hgnc_id": 11023,
"gene_symbol": "SLC35A3",
"hgvs_c": "c.43_44delTTinsAG",
"hgvs_p": "p.Phe15Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000491533.1",
"strand": true,
"transcript": "ENST00000638338.1",
"transcript_support_level": 5
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 296,
"aa_ref": "F",
"aa_start": 15,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1114,
"cdna_start": 204,
"cds_end": null,
"cds_length": 891,
"cds_start": 43,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000639994.1",
"gene_hgnc_id": 11023,
"gene_symbol": "SLC35A3",
"hgvs_c": "c.43_44delTTinsAG",
"hgvs_p": "p.Phe15Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000492135.1",
"strand": true,
"transcript": "ENST00000639994.1",
"transcript_support_level": 5
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 293,
"aa_ref": "F",
"aa_start": 15,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2133,
"cdna_start": 317,
"cds_end": null,
"cds_length": 882,
"cds_start": 43,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000852952.1",
"gene_hgnc_id": 11023,
"gene_symbol": "SLC35A3",
"hgvs_c": "c.43_44delTTinsAG",
"hgvs_p": "p.Phe15Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523011.1",
"strand": true,
"transcript": "ENST00000852952.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 292,
"aa_ref": "F",
"aa_start": 15,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2561,
"cdna_start": 301,
"cds_end": null,
"cds_length": 879,
"cds_start": 43,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000952984.1",
"gene_hgnc_id": 11023,
"gene_symbol": "SLC35A3",
"hgvs_c": "c.43_44delTTinsAG",
"hgvs_p": "p.Phe15Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000623043.1",
"strand": true,
"transcript": "ENST00000952984.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 287,
"aa_ref": "F",
"aa_start": 15,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2767,
"cdna_start": 218,
"cds_end": null,
"cds_length": 864,
"cds_start": 43,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000639807.1",
"gene_hgnc_id": 11023,
"gene_symbol": "SLC35A3",
"hgvs_c": "c.43_44delTTinsAG",
"hgvs_p": "p.Phe15Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000490964.1",
"strand": true,
"transcript": "ENST00000639807.1",
"transcript_support_level": 5
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 286,
"aa_ref": "F",
"aa_start": 15,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1997,
"cdna_start": 202,
"cds_end": null,
"cds_length": 861,
"cds_start": 43,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000923275.1",
"gene_hgnc_id": 11023,
"gene_symbol": "SLC35A3",
"hgvs_c": "c.43_44delTTinsAG",
"hgvs_p": "p.Phe15Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000593334.1",
"strand": true,
"transcript": "ENST00000923275.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 284,
"aa_ref": "F",
"aa_start": 15,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14198,
"cdna_start": 228,
"cds_end": null,
"cds_length": 855,
"cds_start": 43,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001437717.1",
"gene_hgnc_id": 11023,
"gene_symbol": "SLC35A3",
"hgvs_c": "c.43_44delTTinsAG",
"hgvs_p": "p.Phe15Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001424646.1",
"strand": true,
"transcript": "NM_001437717.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 284,
"aa_ref": "F",
"aa_start": 15,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1777,
"cdna_start": 194,
"cds_end": null,
"cds_length": 855,
"cds_start": 43,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000640732.1",
"gene_hgnc_id": 11023,
"gene_symbol": "SLC35A3",
"hgvs_c": "c.43_44delTTinsAG",
"hgvs_p": "p.Phe15Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000492771.1",
"strand": true,
"transcript": "ENST00000640732.1",
"transcript_support_level": 5
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 284,
"aa_ref": "F",
"aa_start": 15,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2700,
"cdna_start": 337,
"cds_end": null,
"cds_length": 855,
"cds_start": 43,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000852949.1",
"gene_hgnc_id": 11023,
"gene_symbol": "SLC35A3",
"hgvs_c": "c.43_44delTTinsAG",
"hgvs_p": "p.Phe15Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523008.1",
"strand": true,
"transcript": "ENST00000852949.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 284,
"aa_ref": "F",
"aa_start": 15,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1801,
"cdna_start": 143,
"cds_end": null,
"cds_length": 855,
"cds_start": 43,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000923276.1",
"gene_hgnc_id": 11023,
"gene_symbol": "SLC35A3",
"hgvs_c": "c.43_44delTTinsAG",
"hgvs_p": "p.Phe15Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000593335.1",
"strand": true,
"transcript": "ENST00000923276.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 284,
"aa_ref": "F",
"aa_start": 15,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1982,
"cdna_start": 191,
"cds_end": null,
"cds_length": 855,
"cds_start": 43,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000952987.1",
"gene_hgnc_id": 11023,
"gene_symbol": "SLC35A3",
"hgvs_c": "c.43_44delTTinsAG",
"hgvs_p": "p.Phe15Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000623046.1",
"strand": true,
"transcript": "ENST00000952987.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 269,
"aa_ref": "F",
"aa_start": 15,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14187,
"cdna_start": 228,
"cds_end": null,
"cds_length": 810,
"cds_start": 43,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001438728.1",
"gene_hgnc_id": 11023,
"gene_symbol": "SLC35A3",
"hgvs_c": "c.43_44delTTinsAG",
"hgvs_p": "p.Phe15Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001425657.1",
"strand": true,
"transcript": "NM_001438728.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 269,
"aa_ref": "F",
"aa_start": 15,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1989,
"cdna_start": 211,
"cds_end": null,
"cds_length": 810,
"cds_start": 43,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000640715.1",
"gene_hgnc_id": 11023,
"gene_symbol": "SLC35A3",
"hgvs_c": "c.43_44delTTinsAG",
"hgvs_p": "p.Phe15Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000492801.1",
"strand": true,
"transcript": "ENST00000640715.1",
"transcript_support_level": 5
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 257,
"aa_ref": "F",
"aa_start": 15,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1286,
"cdna_start": 299,
"cds_end": null,
"cds_length": 774,
"cds_start": 43,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000638988.1",
"gene_hgnc_id": 11023,
"gene_symbol": "SLC35A3",
"hgvs_c": "c.43_44delTTinsAG",
"hgvs_p": "p.Phe15Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000492681.1",
"strand": true,
"transcript": "ENST00000638988.1",
"transcript_support_level": 5
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 228,
"aa_ref": "F",
"aa_start": 15,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14064,
"cdna_start": 228,
"cds_end": null,
"cds_length": 687,
"cds_start": 43,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001437713.1",
"gene_hgnc_id": 11023,
"gene_symbol": "SLC35A3",
"hgvs_c": "c.43_44delTTinsAG",
"hgvs_p": "p.Phe15Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001424642.1",
"strand": true,
"transcript": "NM_001437713.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 228,
"aa_ref": "F",
"aa_start": 15,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1032,
"cdna_start": 219,
"cds_end": null,
"cds_length": 687,
"cds_start": 43,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000639221.1",
"gene_hgnc_id": 11023,
"gene_symbol": "SLC35A3",
"hgvs_c": "c.43_44delTTinsAG",
"hgvs_p": "p.Phe15Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000492169.1",
"strand": true,
"transcript": "ENST00000639221.1",
"transcript_support_level": 5
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 220,
"aa_ref": "F",
"aa_start": 15,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14068,
"cdna_start": 228,
"cds_end": null,
"cds_length": 663,
"cds_start": 43,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001271684.2",
"gene_hgnc_id": 11023,
"gene_symbol": "SLC35A3",
"hgvs_c": "c.43_44delTTinsAG",
"hgvs_p": "p.Phe15Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001258613.1",
"strand": true,
"transcript": "NM_001271684.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 179,
"aa_ref": "F",
"aa_start": 15,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13945,
"cdna_start": 228,
"cds_end": null,
"cds_length": 540,
"cds_start": 43,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001438729.1",
"gene_hgnc_id": 11023,
"gene_symbol": "SLC35A3",
"hgvs_c": "c.43_44delTTinsAG",
"hgvs_p": "p.Phe15Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001425658.1",
"strand": true,
"transcript": "NM_001438729.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 326,
"aa_ref": "F",
"aa_start": 57,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14159,
"cdna_start": 189,
"cds_end": null,
"cds_length": 981,
"cds_start": 169,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011541135.4",
"gene_hgnc_id": 11023,
"gene_symbol": "SLC35A3",
"hgvs_c": "c.169_170delTTinsAG",
"hgvs_p": "p.Phe57Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011539437.1",
"strand": true,
"transcript": "XM_011541135.4",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 311,
"aa_ref": "F",
"aa_start": 57,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14148,
"cdna_start": 189,
"cds_end": null,
"cds_length": 936,
"cds_start": 169,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011541137.4",
"gene_hgnc_id": 11023,
"gene_symbol": "SLC35A3",
"hgvs_c": "c.169_170delTTinsAG",
"hgvs_p": "p.Phe57Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011539439.1",
"strand": true,
"transcript": "XM_011541137.4",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 262,
"aa_ref": "F",
"aa_start": 57,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14029,
"cdna_start": 189,
"cds_end": null,
"cds_length": 789,
"cds_start": 169,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011541138.4",
"gene_hgnc_id": 11023,
"gene_symbol": "SLC35A3",
"hgvs_c": "c.169_170delTTinsAG",
"hgvs_p": "p.Phe57Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011539440.1",
"strand": true,
"transcript": "XM_011541138.4",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 197,
"aa_ref": "F",
"aa_start": 57,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 734,
"cdna_start": 189,
"cds_end": null,
"cds_length": 594,
"cds_start": 169,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047416586.1",
"gene_hgnc_id": 11023,
"gene_symbol": "SLC35A3",
"hgvs_c": "c.169_170delTTinsAG",
"hgvs_p": "p.Phe57Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047272542.1",
"strand": true,
"transcript": "XM_047416586.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 155,
"aa_ref": "F",
"aa_start": 15,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 773,
"cdna_start": 228,
"cds_end": null,
"cds_length": 468,
"cds_start": 43,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047416588.1",
"gene_hgnc_id": 11023,
"gene_symbol": "SLC35A3",
"hgvs_c": "c.43_44delTTinsAG",
"hgvs_p": "p.Phe15Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047272544.1",
"strand": true,
"transcript": "XM_047416588.1",
"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": 2454,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 8,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000370155.9",
"gene_hgnc_id": 11023,
"gene_symbol": "SLC35A3",
"hgvs_c": "n.43_44delTTinsAG",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000359174.5",
"strand": true,
"transcript": "ENST00000370155.9",
"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": 748,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000422078.1",
"gene_hgnc_id": 11023,
"gene_symbol": "SLC35A3",
"hgvs_c": "n.117_118delTTinsAG",
"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": "ENST00000422078.1",
"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": 563,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000532693.5",
"gene_hgnc_id": 11023,
"gene_symbol": "SLC35A3",
"hgvs_c": "n.*82_*83delTTinsAG",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000436938.2",
"strand": true,
"transcript": "ENST00000532693.5",
"transcript_support_level": 4
},
{
"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": 1983,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 15,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000638779.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000283761",
"hgvs_c": "n.43_44delTTinsAG",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000492662.1",
"strand": true,
"transcript": "ENST00000638779.1",
"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": 1005,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000638876.1",
"gene_hgnc_id": 11023,
"gene_symbol": "SLC35A3",
"hgvs_c": "n.43_44delTTinsAG",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000491185.1",
"strand": true,
"transcript": "ENST00000638876.1",
"transcript_support_level": 5
},
{
"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": 3035,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000638929.1",
"gene_hgnc_id": 11023,
"gene_symbol": "SLC35A3",
"hgvs_c": "n.193_194delTTinsAG",
"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": "ENST00000638929.1",
"transcript_support_level": 2
},
{
"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": 3175,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 20,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000638968.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000283761",
"hgvs_c": "n.43_44delTTinsAG",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000491405.1",
"strand": true,
"transcript": "ENST00000638968.1",
"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": 2568,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 16,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000639040.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000283761",
"hgvs_c": "n.43_44delTTinsAG",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000492034.1",
"strand": true,
"transcript": "ENST00000639040.1",
"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": 1451,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000639088.1",
"gene_hgnc_id": 11023,
"gene_symbol": "SLC35A3",
"hgvs_c": "n.43_44delTTinsAG",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000492308.1",
"strand": true,
"transcript": "ENST00000639088.1",
"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": 1644,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000639148.1",
"gene_hgnc_id": 11023,
"gene_symbol": "SLC35A3",
"hgvs_c": "n.43_44delTTinsAG",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000491383.1",
"strand": true,
"transcript": "ENST00000639148.1",
"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": 5352,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 16,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000639171.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000283761",
"hgvs_c": "n.43_44delTTinsAG",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000492729.1",
"strand": true,
"transcript": "ENST00000639171.1",
"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": 2446,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000640178.1",
"gene_hgnc_id": 11023,
"gene_symbol": "SLC35A3",
"hgvs_c": "n.43_44delTTinsAG",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000491771.1",
"strand": true,
"transcript": "ENST00000640178.1",
"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": 2901,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 18,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000640238.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000283761",
"hgvs_c": "n.43_44delTTinsAG",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000491093.1",
"strand": true,
"transcript": "ENST00000640238.1",
"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": 3488,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 18,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000640357.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000283761",
"hgvs_c": "n.43_44delTTinsAG",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000491367.1",
"strand": true,
"transcript": "ENST00000640357.1",
"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": 4437,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000640360.1",
"gene_hgnc_id": 11023,
"gene_symbol": "SLC35A3",
"hgvs_c": "n.43_44delTTinsAG",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000491598.1",
"strand": true,
"transcript": "ENST00000640360.1",
"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": 1636,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 9,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000640726.1",
"gene_hgnc_id": 11023,
"gene_symbol": "SLC35A3",
"hgvs_c": "n.43_44delTTinsAG",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000492128.1",
"strand": true,
"transcript": "ENST00000640726.1",
"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": 563,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000532693.5",
"gene_hgnc_id": 11023,
"gene_symbol": "SLC35A3",
"hgvs_c": "n.*82_*83delTTinsAG",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000436938.2",
"strand": true,
"transcript": "ENST00000532693.5",
"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": 790,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000840838.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000288826",
"hgvs_c": "n.278+44132_278+44133delAAinsCT",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000840838.1",
"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": 900,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000840839.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000288826",
"hgvs_c": "n.201+44132_201+44133delAAinsCT",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000840839.1",
"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": 775,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000840840.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000288826",
"hgvs_c": "n.192+44132_192+44133delAAinsCT",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000840840.1",
"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": 691,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XR_007066243.1",
"gene_hgnc_id": null,
"gene_symbol": "LOC124904230",
"hgvs_c": "n.279+44132_279+44133delAAinsCT",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "XR_007066243.1",
"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": 1348,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XR_007066244.1",
"gene_hgnc_id": null,
"gene_symbol": "LOC124904230",
"hgvs_c": "n.279+44132_279+44133delAAinsCT",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "XR_007066244.1",
"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": 1237,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XR_007066245.1",
"gene_hgnc_id": null,
"gene_symbol": "LOC124904230",
"hgvs_c": "n.279+44132_279+44133delAAinsCT",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "XR_007066245.1",
"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": 1342,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XR_007066246.1",
"gene_hgnc_id": null,
"gene_symbol": "LOC124904230",
"hgvs_c": "n.279+44132_279+44133delAAinsCT",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "XR_007066246.1",
"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": 1280,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XR_007066247.1",
"gene_hgnc_id": null,
"gene_symbol": "LOC124904230",
"hgvs_c": "n.279+44132_279+44133delAAinsCT",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "XR_007066247.1",
"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": 1328,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XR_007066248.1",
"gene_hgnc_id": null,
"gene_symbol": "LOC124904230",
"hgvs_c": "n.279+44132_279+44133delAAinsCT",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "XR_007066248.1",
"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": 1166,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XR_007066249.1",
"gene_hgnc_id": null,
"gene_symbol": "LOC124904230",
"hgvs_c": "n.279+44132_279+44133delAAinsCT",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "XR_007066249.1",
"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": 759,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XR_007066250.1",
"gene_hgnc_id": null,
"gene_symbol": "LOC124904230",
"hgvs_c": "n.279+44132_279+44133delAAinsCT",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "XR_007066250.1",
"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": 753,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XR_007066251.1",
"gene_hgnc_id": null,
"gene_symbol": "LOC124904230",
"hgvs_c": "n.279+44132_279+44133delAAinsCT",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "XR_007066251.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": null,
"effect": "missense_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 11023,
"gene_symbol": "SLC35A3",
"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": null,
"phenotype_combined": null,
"phylop100way_prediction": "Pathogenic",
"phylop100way_score": 7.546,
"pos": 99993597,
"ref": "TT",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": null,
"splice_score_selected": null,
"splice_source_selected": null,
"spliceai_max_prediction": null,
"spliceai_max_score": null,
"transcript": "NM_001271685.2"
}
]
}