← 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: X-111730405-TGAA-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=111730405&ref=TGAA&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 16,
"criteria": [
"PM4_Supporting",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"effects": [
"conservative_inframe_deletion"
],
"gene_symbol": "ALG13",
"hgnc_id": 30881,
"hgvs_c": "c.2383_2385delGAA",
"hgvs_p": "p.Glu795del",
"inheritance_mode": "XL",
"pathogenic_score": 1,
"score": -15,
"transcript": "NM_001099922.3",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "PM4_Supporting,BP6_Very_Strong,BS1,BS2",
"acmg_score": -15,
"allele_count_reference_population": 1096,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "X",
"clinvar_classification": "Benign/Likely benign",
"clinvar_disease": " 36,ALG13-related disorder,Developmental and epileptic encephalopathy,Inborn genetic diseases,not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:3 B:3",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1137,
"aa_ref": "E",
"aa_start": 795,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4113,
"cdna_start": 2432,
"cds_end": null,
"cds_length": 3414,
"cds_start": 2383,
"consequences": [
"conservative_inframe_deletion"
],
"exon_count": 27,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "NM_001099922.3",
"gene_hgnc_id": 30881,
"gene_symbol": "ALG13",
"hgvs_c": "c.2383_2385delGAA",
"hgvs_p": "p.Glu795del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000394780.8",
"protein_coding": true,
"protein_id": "NP_001093392.1",
"strand": true,
"transcript": "NM_001099922.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1137,
"aa_ref": "E",
"aa_start": 795,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4113,
"cdna_start": 2432,
"cds_end": null,
"cds_length": 3414,
"cds_start": 2383,
"consequences": [
"conservative_inframe_deletion"
],
"exon_count": 27,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000394780.8",
"gene_hgnc_id": 30881,
"gene_symbol": "ALG13",
"hgvs_c": "c.2383_2385delGAA",
"hgvs_p": "p.Glu795del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001099922.3",
"protein_coding": true,
"protein_id": "ENSP00000378260.3",
"strand": true,
"transcript": "ENST00000394780.8",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1129,
"aa_ref": "E",
"aa_start": 787,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4091,
"cdna_start": 2410,
"cds_end": null,
"cds_length": 3390,
"cds_start": 2359,
"consequences": [
"conservative_inframe_deletion"
],
"exon_count": 27,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000927365.1",
"gene_hgnc_id": 30881,
"gene_symbol": "ALG13",
"hgvs_c": "c.2359_2361delGAA",
"hgvs_p": "p.Glu787del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000597424.1",
"strand": true,
"transcript": "ENST00000927365.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1079,
"aa_ref": "E",
"aa_start": 737,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3909,
"cdna_start": 2228,
"cds_end": null,
"cds_length": 3240,
"cds_start": 2209,
"consequences": [
"conservative_inframe_deletion"
],
"exon_count": 25,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000927366.1",
"gene_hgnc_id": 30881,
"gene_symbol": "ALG13",
"hgvs_c": "c.2209_2211delGAA",
"hgvs_p": "p.Glu737del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000597425.1",
"strand": true,
"transcript": "ENST00000927366.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1059,
"aa_ref": "E",
"aa_start": 717,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4179,
"cdna_start": 2498,
"cds_end": null,
"cds_length": 3180,
"cds_start": 2149,
"consequences": [
"conservative_inframe_deletion"
],
"exon_count": 27,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "NM_001257231.2",
"gene_hgnc_id": 30881,
"gene_symbol": "ALG13",
"hgvs_c": "c.2149_2151delGAA",
"hgvs_p": "p.Glu717del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001244160.1",
"strand": true,
"transcript": "NM_001257231.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1058,
"aa_ref": "E",
"aa_start": 795,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3876,
"cdna_start": 2432,
"cds_end": null,
"cds_length": 3177,
"cds_start": 2383,
"consequences": [
"conservative_inframe_deletion"
],
"exon_count": 26,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "NM_001324292.2",
"gene_hgnc_id": 30881,
"gene_symbol": "ALG13",
"hgvs_c": "c.2383_2385delGAA",
"hgvs_p": "p.Glu795del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001311221.1",
"strand": true,
"transcript": "NM_001324292.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1000,
"aa_ref": "E",
"aa_start": 737,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3413,
"cdna_start": 2278,
"cds_end": null,
"cds_length": 3003,
"cds_start": 2209,
"consequences": [
"conservative_inframe_deletion"
],
"exon_count": 24,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000623622.2",
"gene_hgnc_id": 30881,
"gene_symbol": "ALG13",
"hgvs_c": "c.2209_2211delGAA",
"hgvs_p": "p.Glu737del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000485624.2",
"strand": true,
"transcript": "ENST00000623622.2",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 954,
"aa_ref": "E",
"aa_start": 691,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3772,
"cdna_start": 2328,
"cds_end": null,
"cds_length": 2865,
"cds_start": 2071,
"consequences": [
"conservative_inframe_deletion"
],
"exon_count": 26,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "NM_001257230.2",
"gene_hgnc_id": 30881,
"gene_symbol": "ALG13",
"hgvs_c": "c.2071_2073delGAA",
"hgvs_p": "p.Glu691del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001244159.1",
"strand": true,
"transcript": "NM_001257230.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 954,
"aa_ref": "E",
"aa_start": 691,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3897,
"cdna_start": 2453,
"cds_end": null,
"cds_length": 2865,
"cds_start": 2071,
"consequences": [
"conservative_inframe_deletion"
],
"exon_count": 26,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "NM_001257234.2",
"gene_hgnc_id": 30881,
"gene_symbol": "ALG13",
"hgvs_c": "c.2071_2073delGAA",
"hgvs_p": "p.Glu691del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001244163.1",
"strand": true,
"transcript": "NM_001257234.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 954,
"aa_ref": "E",
"aa_start": 691,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4001,
"cdna_start": 2557,
"cds_end": null,
"cds_length": 2865,
"cds_start": 2071,
"consequences": [
"conservative_inframe_deletion"
],
"exon_count": 26,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "NM_001257237.2",
"gene_hgnc_id": 30881,
"gene_symbol": "ALG13",
"hgvs_c": "c.2071_2073delGAA",
"hgvs_p": "p.Glu691del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001244166.1",
"strand": true,
"transcript": "NM_001257237.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 954,
"aa_ref": "E",
"aa_start": 691,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3812,
"cdna_start": 2368,
"cds_end": null,
"cds_length": 2865,
"cds_start": 2071,
"consequences": [
"conservative_inframe_deletion"
],
"exon_count": 26,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000436609.5",
"gene_hgnc_id": 30881,
"gene_symbol": "ALG13",
"hgvs_c": "c.2071_2073delGAA",
"hgvs_p": "p.Glu691del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000392990.2",
"strand": true,
"transcript": "ENST00000436609.5",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 896,
"aa_ref": "E",
"aa_start": 633,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3827,
"cdna_start": 2383,
"cds_end": null,
"cds_length": 2691,
"cds_start": 1897,
"consequences": [
"conservative_inframe_deletion"
],
"exon_count": 24,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "NM_001324293.1",
"gene_hgnc_id": 30881,
"gene_symbol": "ALG13",
"hgvs_c": "c.1897_1899delGAA",
"hgvs_p": "p.Glu633del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001311222.1",
"strand": true,
"transcript": "NM_001324293.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1161,
"aa_ref": "E",
"aa_start": 795,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4185,
"cdna_start": 2432,
"cds_end": null,
"cds_length": 3486,
"cds_start": 2383,
"consequences": [
"conservative_inframe_deletion"
],
"exon_count": 28,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "XM_011531028.3",
"gene_hgnc_id": 30881,
"gene_symbol": "ALG13",
"hgvs_c": "c.2383_2385delGAA",
"hgvs_p": "p.Glu795del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011529330.1",
"strand": true,
"transcript": "XM_011531028.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1153,
"aa_ref": "E",
"aa_start": 787,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4161,
"cdna_start": 2408,
"cds_end": null,
"cds_length": 3462,
"cds_start": 2359,
"consequences": [
"conservative_inframe_deletion"
],
"exon_count": 28,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "XM_017029846.2",
"gene_hgnc_id": 30881,
"gene_symbol": "ALG13",
"hgvs_c": "c.2359_2361delGAA",
"hgvs_p": "p.Glu787del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016885335.1",
"strand": true,
"transcript": "XM_017029846.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1148,
"aa_ref": "E",
"aa_start": 795,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4146,
"cdna_start": 2432,
"cds_end": null,
"cds_length": 3447,
"cds_start": 2383,
"consequences": [
"conservative_inframe_deletion"
],
"exon_count": 28,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "XM_017029847.2",
"gene_hgnc_id": 30881,
"gene_symbol": "ALG13",
"hgvs_c": "c.2383_2385delGAA",
"hgvs_p": "p.Glu795del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016885336.1",
"strand": true,
"transcript": "XM_017029847.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1129,
"aa_ref": "E",
"aa_start": 787,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4089,
"cdna_start": 2408,
"cds_end": null,
"cds_length": 3390,
"cds_start": 2359,
"consequences": [
"conservative_inframe_deletion"
],
"exon_count": 27,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "XM_047442520.1",
"gene_hgnc_id": 30881,
"gene_symbol": "ALG13",
"hgvs_c": "c.2359_2361delGAA",
"hgvs_p": "p.Glu787del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047298476.1",
"strand": true,
"transcript": "XM_047442520.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1124,
"aa_ref": "E",
"aa_start": 795,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4074,
"cdna_start": 2432,
"cds_end": null,
"cds_length": 3375,
"cds_start": 2383,
"consequences": [
"conservative_inframe_deletion"
],
"exon_count": 27,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "XM_006724693.4",
"gene_hgnc_id": 30881,
"gene_symbol": "ALG13",
"hgvs_c": "c.2383_2385delGAA",
"hgvs_p": "p.Glu795del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006724756.1",
"strand": true,
"transcript": "XM_006724693.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1104,
"aa_ref": "E",
"aa_start": 738,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4014,
"cdna_start": 2261,
"cds_end": null,
"cds_length": 3315,
"cds_start": 2212,
"consequences": [
"conservative_inframe_deletion"
],
"exon_count": 25,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "XM_047442521.1",
"gene_hgnc_id": 30881,
"gene_symbol": "ALG13",
"hgvs_c": "c.2212_2214delGAA",
"hgvs_p": "p.Glu738del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047298477.1",
"strand": true,
"transcript": "XM_047442521.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1082,
"aa_ref": "E",
"aa_start": 795,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3948,
"cdna_start": 2432,
"cds_end": null,
"cds_length": 3249,
"cds_start": 2383,
"consequences": [
"conservative_inframe_deletion"
],
"exon_count": 27,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "XM_011531030.3",
"gene_hgnc_id": 30881,
"gene_symbol": "ALG13",
"hgvs_c": "c.2383_2385delGAA",
"hgvs_p": "p.Glu795del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011529332.1",
"strand": true,
"transcript": "XM_011531030.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1080,
"aa_ref": "E",
"aa_start": 738,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3942,
"cdna_start": 2261,
"cds_end": null,
"cds_length": 3243,
"cds_start": 2212,
"consequences": [
"conservative_inframe_deletion"
],
"exon_count": 24,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "XM_047442522.1",
"gene_hgnc_id": 30881,
"gene_symbol": "ALG13",
"hgvs_c": "c.2212_2214delGAA",
"hgvs_p": "p.Glu738del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047298478.1",
"strand": true,
"transcript": "XM_047442522.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1057,
"aa_ref": "E",
"aa_start": 691,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4081,
"cdna_start": 2328,
"cds_end": null,
"cds_length": 3174,
"cds_start": 2071,
"consequences": [
"conservative_inframe_deletion"
],
"exon_count": 28,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "XM_006724697.4",
"gene_hgnc_id": 30881,
"gene_symbol": "ALG13",
"hgvs_c": "c.2071_2073delGAA",
"hgvs_p": "p.Glu691del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006724760.2",
"strand": true,
"transcript": "XM_006724697.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1057,
"aa_ref": "E",
"aa_start": 691,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4206,
"cdna_start": 2453,
"cds_end": null,
"cds_length": 3174,
"cds_start": 2071,
"consequences": [
"conservative_inframe_deletion"
],
"exon_count": 28,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "XM_006724698.4",
"gene_hgnc_id": 30881,
"gene_symbol": "ALG13",
"hgvs_c": "c.2071_2073delGAA",
"hgvs_p": "p.Glu691del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006724761.2",
"strand": true,
"transcript": "XM_006724698.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1057,
"aa_ref": "E",
"aa_start": 691,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4310,
"cdna_start": 2557,
"cds_end": null,
"cds_length": 3174,
"cds_start": 2071,
"consequences": [
"conservative_inframe_deletion"
],
"exon_count": 28,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "XM_011531031.2",
"gene_hgnc_id": 30881,
"gene_symbol": "ALG13",
"hgvs_c": "c.2071_2073delGAA",
"hgvs_p": "p.Glu691del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011529333.1",
"strand": true,
"transcript": "XM_011531031.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1057,
"aa_ref": "E",
"aa_start": 691,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4121,
"cdna_start": 2368,
"cds_end": null,
"cds_length": 3174,
"cds_start": 2071,
"consequences": [
"conservative_inframe_deletion"
],
"exon_count": 28,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "XM_011531032.2",
"gene_hgnc_id": 30881,
"gene_symbol": "ALG13",
"hgvs_c": "c.2071_2073delGAA",
"hgvs_p": "p.Glu691del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011529334.1",
"strand": true,
"transcript": "XM_011531032.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1057,
"aa_ref": "E",
"aa_start": 691,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4225,
"cdna_start": 2472,
"cds_end": null,
"cds_length": 3174,
"cds_start": 2071,
"consequences": [
"conservative_inframe_deletion"
],
"exon_count": 28,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "XM_011531033.4",
"gene_hgnc_id": 30881,
"gene_symbol": "ALG13",
"hgvs_c": "c.2071_2073delGAA",
"hgvs_p": "p.Glu691del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011529335.1",
"strand": true,
"transcript": "XM_011531033.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1050,
"aa_ref": "E",
"aa_start": 787,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3852,
"cdna_start": 2408,
"cds_end": null,
"cds_length": 3153,
"cds_start": 2359,
"consequences": [
"conservative_inframe_deletion"
],
"exon_count": 26,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "XM_017029848.2",
"gene_hgnc_id": 30881,
"gene_symbol": "ALG13",
"hgvs_c": "c.2359_2361delGAA",
"hgvs_p": "p.Glu787del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016885337.1",
"strand": true,
"transcript": "XM_017029848.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1045,
"aa_ref": "E",
"aa_start": 795,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3837,
"cdna_start": 2432,
"cds_end": null,
"cds_length": 3138,
"cds_start": 2383,
"consequences": [
"conservative_inframe_deletion"
],
"exon_count": 26,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "XM_047442523.1",
"gene_hgnc_id": 30881,
"gene_symbol": "ALG13",
"hgvs_c": "c.2383_2385delGAA",
"hgvs_p": "p.Glu795del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047298479.1",
"strand": true,
"transcript": "XM_047442523.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1033,
"aa_ref": "E",
"aa_start": 691,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4049,
"cdna_start": 2368,
"cds_end": null,
"cds_length": 3102,
"cds_start": 2071,
"consequences": [
"conservative_inframe_deletion"
],
"exon_count": 27,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "XM_047442524.1",
"gene_hgnc_id": 30881,
"gene_symbol": "ALG13",
"hgvs_c": "c.2071_2073delGAA",
"hgvs_p": "p.Glu691del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047298480.1",
"strand": true,
"transcript": "XM_047442524.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1001,
"aa_ref": "E",
"aa_start": 738,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3705,
"cdna_start": 2261,
"cds_end": null,
"cds_length": 3006,
"cds_start": 2212,
"consequences": [
"conservative_inframe_deletion"
],
"exon_count": 23,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "XM_047442525.1",
"gene_hgnc_id": 30881,
"gene_symbol": "ALG13",
"hgvs_c": "c.2212_2214delGAA",
"hgvs_p": "p.Glu738del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047298481.1",
"strand": true,
"transcript": "XM_047442525.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 958,
"aa_ref": "E",
"aa_start": 592,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3938,
"cdna_start": 2185,
"cds_end": null,
"cds_length": 2877,
"cds_start": 1774,
"consequences": [
"conservative_inframe_deletion"
],
"exon_count": 27,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "XM_011531034.3",
"gene_hgnc_id": 30881,
"gene_symbol": "ALG13",
"hgvs_c": "c.1774_1776delGAA",
"hgvs_p": "p.Glu592del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011529336.1",
"strand": true,
"transcript": "XM_011531034.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 939,
"aa_ref": "E",
"aa_start": 795,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2916,
"cdna_start": 2432,
"cds_end": null,
"cds_length": 2820,
"cds_start": 2383,
"consequences": [
"conservative_inframe_deletion"
],
"exon_count": 25,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "XM_017029849.2",
"gene_hgnc_id": 30881,
"gene_symbol": "ALG13",
"hgvs_c": "c.2383_2385delGAA",
"hgvs_p": "p.Glu795del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016885338.1",
"strand": true,
"transcript": "XM_017029849.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 925,
"aa_ref": "E",
"aa_start": 795,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2842,
"cdna_start": 2432,
"cds_end": null,
"cds_length": 2778,
"cds_start": 2383,
"consequences": [
"conservative_inframe_deletion"
],
"exon_count": 25,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "XM_017029850.3",
"gene_hgnc_id": 30881,
"gene_symbol": "ALG13",
"hgvs_c": "c.2383_2385delGAA",
"hgvs_p": "p.Glu795del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016885339.1",
"strand": true,
"transcript": "XM_017029850.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 915,
"aa_ref": "E",
"aa_start": 795,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2844,
"cdna_start": 2432,
"cds_end": null,
"cds_length": 2748,
"cds_start": 2383,
"consequences": [
"conservative_inframe_deletion"
],
"exon_count": 24,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "XM_024452449.2",
"gene_hgnc_id": 30881,
"gene_symbol": "ALG13",
"hgvs_c": "c.2383_2385delGAA",
"hgvs_p": "p.Glu795del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024308217.1",
"strand": true,
"transcript": "XM_024452449.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 893,
"aa_ref": "E",
"aa_start": 527,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3570,
"cdna_start": 1817,
"cds_end": null,
"cds_length": 2682,
"cds_start": 1579,
"consequences": [
"conservative_inframe_deletion"
],
"exon_count": 26,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "XM_047442526.1",
"gene_hgnc_id": 30881,
"gene_symbol": "ALG13",
"hgvs_c": "c.1579_1581delGAA",
"hgvs_p": "p.Glu527del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047298482.1",
"strand": true,
"transcript": "XM_047442526.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 838,
"aa_ref": "E",
"aa_start": 472,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3183,
"cdna_start": 1430,
"cds_end": null,
"cds_length": 2517,
"cds_start": 1414,
"consequences": [
"conservative_inframe_deletion"
],
"exon_count": 21,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "XM_017029852.2",
"gene_hgnc_id": 30881,
"gene_symbol": "ALG13",
"hgvs_c": "c.1414_1416delGAA",
"hgvs_p": "p.Glu472del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016885341.1",
"strand": true,
"transcript": "XM_017029852.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 829,
"aa_ref": "E",
"aa_start": 487,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3178,
"cdna_start": 1497,
"cds_end": null,
"cds_length": 2490,
"cds_start": 1459,
"consequences": [
"conservative_inframe_deletion"
],
"exon_count": 21,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "XM_047442527.1",
"gene_hgnc_id": 30881,
"gene_symbol": "ALG13",
"hgvs_c": "c.1459_1461delGAA",
"hgvs_p": "p.Glu487del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047298483.1",
"strand": true,
"transcript": "XM_047442527.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 744,
"aa_ref": "E",
"aa_start": 378,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3315,
"cdna_start": 1562,
"cds_end": null,
"cds_length": 2235,
"cds_start": 1132,
"consequences": [
"conservative_inframe_deletion"
],
"exon_count": 22,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "XM_047442528.1",
"gene_hgnc_id": 30881,
"gene_symbol": "ALG13",
"hgvs_c": "c.1132_1134delGAA",
"hgvs_p": "p.Glu378del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047298484.1",
"strand": true,
"transcript": "XM_047442528.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 720,
"aa_ref": "E",
"aa_start": 378,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3412,
"cdna_start": 1731,
"cds_end": null,
"cds_length": 2163,
"cds_start": 1132,
"consequences": [
"conservative_inframe_deletion"
],
"exon_count": 24,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "XM_047442529.1",
"gene_hgnc_id": 30881,
"gene_symbol": "ALG13",
"hgvs_c": "c.1132_1134delGAA",
"hgvs_p": "p.Glu378del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047298485.1",
"strand": true,
"transcript": "XM_047442529.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 676,
"aa_ref": "E",
"aa_start": 310,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2777,
"cdna_start": 1024,
"cds_end": null,
"cds_length": 2031,
"cds_start": 928,
"consequences": [
"conservative_inframe_deletion"
],
"exon_count": 17,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "XM_047442530.1",
"gene_hgnc_id": 30881,
"gene_symbol": "ALG13",
"hgvs_c": "c.928_930delGAA",
"hgvs_p": "p.Glu310del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047298486.1",
"strand": true,
"transcript": "XM_047442530.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 669,
"aa_ref": "E",
"aa_start": 303,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2821,
"cdna_start": 1068,
"cds_end": null,
"cds_length": 2010,
"cds_start": 907,
"consequences": [
"conservative_inframe_deletion"
],
"exon_count": 17,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "XM_047442531.1",
"gene_hgnc_id": 30881,
"gene_symbol": "ALG13",
"hgvs_c": "c.907_909delGAA",
"hgvs_p": "p.Glu303del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047298487.1",
"strand": true,
"transcript": "XM_047442531.1",
"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": 520,
"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": "ENST00000460092.2",
"gene_hgnc_id": 30881,
"gene_symbol": "ALG13",
"hgvs_c": "n.264_266delGAA",
"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": "ENST00000460092.2",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 3200,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 22,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000470971.5",
"gene_hgnc_id": 30881,
"gene_symbol": "ALG13",
"hgvs_c": "n.*1375_*1377delGAA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000479424.2",
"strand": true,
"transcript": "ENST00000470971.5",
"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": 686,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000486578.4",
"gene_hgnc_id": 30881,
"gene_symbol": "ALG13",
"hgvs_c": "n.320_322delGAA",
"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": "ENST00000486578.4",
"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": 3236,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 26,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000495283.5",
"gene_hgnc_id": 30881,
"gene_symbol": "ALG13",
"hgvs_c": "n.*2248_*2250delGAA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000427093.3",
"strand": true,
"transcript": "ENST00000495283.5",
"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": 3693,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 26,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000623144.3",
"gene_hgnc_id": 30881,
"gene_symbol": "ALG13",
"hgvs_c": "n.*2352_*2354delGAA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000485279.1",
"strand": true,
"transcript": "ENST00000623144.3",
"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": 3689,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 27,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000623148.3",
"gene_hgnc_id": 30881,
"gene_symbol": "ALG13",
"hgvs_c": "n.*2293_*2295delGAA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000485658.1",
"strand": true,
"transcript": "ENST00000623148.3",
"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": 3761,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 26,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000624161.3",
"gene_hgnc_id": 30881,
"gene_symbol": "ALG13",
"hgvs_c": "n.*2147_*2149delGAA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000485181.1",
"strand": true,
"transcript": "ENST00000624161.3",
"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": 3480,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 22,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000636363.1",
"gene_hgnc_id": 30881,
"gene_symbol": "ALG13",
"hgvs_c": "n.*1171_*1173delGAA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000490681.1",
"strand": true,
"transcript": "ENST00000636363.1",
"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": 3703,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 24,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000699748.1",
"gene_hgnc_id": 30881,
"gene_symbol": "ALG13",
"hgvs_c": "n.*2178_*2180delGAA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000514558.1",
"strand": true,
"transcript": "ENST00000699748.1",
"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": 2725,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 19,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000699778.1",
"gene_hgnc_id": 30881,
"gene_symbol": "ALG13",
"hgvs_c": "n.*810_*812delGAA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000514584.1",
"strand": true,
"transcript": "ENST00000699778.1",
"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": 3555,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 22,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NR_148693.2",
"gene_hgnc_id": 30881,
"gene_symbol": "ALG13",
"hgvs_c": "n.2111_2113delGAA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "NR_148693.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 3200,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 22,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000470971.5",
"gene_hgnc_id": 30881,
"gene_symbol": "ALG13",
"hgvs_c": "n.*1375_*1377delGAA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000479424.2",
"strand": true,
"transcript": "ENST00000470971.5",
"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": 3236,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 26,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000495283.5",
"gene_hgnc_id": 30881,
"gene_symbol": "ALG13",
"hgvs_c": "n.*2248_*2250delGAA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000427093.3",
"strand": true,
"transcript": "ENST00000495283.5",
"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": 3693,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 26,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000623144.3",
"gene_hgnc_id": 30881,
"gene_symbol": "ALG13",
"hgvs_c": "n.*2352_*2354delGAA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000485279.1",
"strand": true,
"transcript": "ENST00000623144.3",
"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": 3689,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 27,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000623148.3",
"gene_hgnc_id": 30881,
"gene_symbol": "ALG13",
"hgvs_c": "n.*2293_*2295delGAA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000485658.1",
"strand": true,
"transcript": "ENST00000623148.3",
"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": 3761,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 26,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000624161.3",
"gene_hgnc_id": 30881,
"gene_symbol": "ALG13",
"hgvs_c": "n.*2147_*2149delGAA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000485181.1",
"strand": true,
"transcript": "ENST00000624161.3",
"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": 3480,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 22,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000636363.1",
"gene_hgnc_id": 30881,
"gene_symbol": "ALG13",
"hgvs_c": "n.*1171_*1173delGAA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000490681.1",
"strand": true,
"transcript": "ENST00000636363.1",
"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": 3703,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 24,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000699748.1",
"gene_hgnc_id": 30881,
"gene_symbol": "ALG13",
"hgvs_c": "n.*2178_*2180delGAA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000514558.1",
"strand": true,
"transcript": "ENST00000699748.1",
"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": 2725,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 19,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000699778.1",
"gene_hgnc_id": 30881,
"gene_symbol": "ALG13",
"hgvs_c": "n.*810_*812delGAA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000514584.1",
"strand": true,
"transcript": "ENST00000699778.1",
"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": 89,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"upstream_gene_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000635824.1",
"gene_hgnc_id": 30881,
"gene_symbol": "ALG13",
"hgvs_c": "n.-130_-128delGAA",
"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": "ENST00000635824.1",
"transcript_support_level": 5
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs772766102",
"effect": "conservative_inframe_deletion",
"frequency_reference_population": 0.00090688537,
"gene_hgnc_id": 30881,
"gene_symbol": "ALG13",
"gnomad_exomes_ac": 1028,
"gnomad_exomes_af": 0.00093792,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_ac": 68,
"gnomad_genomes_af": 0.000604498,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 331,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Benign/Likely benign",
"phenotype_combined": "not provided|Developmental and epileptic encephalopathy, 36|Inborn genetic diseases|ALG13-related disorder",
"phylop100way_prediction": "Uncertain_significance",
"phylop100way_score": 4.48,
"pos": 111730405,
"ref": "TGAA",
"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_001099922.3"
}
]
}