← 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-111744768-ACCT-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=111744768&ref=ACCT&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 111744768,
"ref": "ACCT",
"alt": "A",
"effect": "conservative_inframe_deletion",
"transcript": "ENST00000394780.8",
"consequences": [
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG13",
"gene_hgnc_id": 30881,
"hgvs_c": "c.2833_2835delCCT",
"hgvs_p": "p.Pro945del",
"transcript": "NM_001099922.3",
"protein_id": "NP_001093392.1",
"transcript_support_level": null,
"aa_start": 945,
"aa_end": null,
"aa_length": 1137,
"cds_start": 2833,
"cds_end": null,
"cds_length": 3414,
"cdna_start": 2882,
"cdna_end": null,
"cdna_length": 4113,
"mane_select": "ENST00000394780.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG13",
"gene_hgnc_id": 30881,
"hgvs_c": "c.2833_2835delCCT",
"hgvs_p": "p.Pro945del",
"transcript": "ENST00000394780.8",
"protein_id": "ENSP00000378260.3",
"transcript_support_level": 2,
"aa_start": 945,
"aa_end": null,
"aa_length": 1137,
"cds_start": 2833,
"cds_end": null,
"cds_length": 3414,
"cdna_start": 2882,
"cdna_end": null,
"cdna_length": 4113,
"mane_select": "NM_001099922.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG13",
"gene_hgnc_id": 30881,
"hgvs_c": "c.2599_2601delCCT",
"hgvs_p": "p.Pro867del",
"transcript": "NM_001257231.2",
"protein_id": "NP_001244160.1",
"transcript_support_level": null,
"aa_start": 867,
"aa_end": null,
"aa_length": 1059,
"cds_start": 2599,
"cds_end": null,
"cds_length": 3180,
"cdna_start": 2948,
"cdna_end": null,
"cdna_length": 4179,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG13",
"gene_hgnc_id": 30881,
"hgvs_c": "c.2905_2907delCCT",
"hgvs_p": "p.Pro969del",
"transcript": "XM_011531028.3",
"protein_id": "XP_011529330.1",
"transcript_support_level": null,
"aa_start": 969,
"aa_end": null,
"aa_length": 1161,
"cds_start": 2905,
"cds_end": null,
"cds_length": 3486,
"cdna_start": 2954,
"cdna_end": null,
"cdna_length": 4185,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG13",
"gene_hgnc_id": 30881,
"hgvs_c": "c.2881_2883delCCT",
"hgvs_p": "p.Pro961del",
"transcript": "XM_017029846.2",
"protein_id": "XP_016885335.1",
"transcript_support_level": null,
"aa_start": 961,
"aa_end": null,
"aa_length": 1153,
"cds_start": 2881,
"cds_end": null,
"cds_length": 3462,
"cdna_start": 2930,
"cdna_end": null,
"cdna_length": 4161,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG13",
"gene_hgnc_id": 30881,
"hgvs_c": "c.2866_2868delCCT",
"hgvs_p": "p.Pro956del",
"transcript": "XM_017029847.2",
"protein_id": "XP_016885336.1",
"transcript_support_level": null,
"aa_start": 956,
"aa_end": null,
"aa_length": 1148,
"cds_start": 2866,
"cds_end": null,
"cds_length": 3447,
"cdna_start": 2915,
"cdna_end": null,
"cdna_length": 4146,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG13",
"gene_hgnc_id": 30881,
"hgvs_c": "c.2809_2811delCCT",
"hgvs_p": "p.Pro937del",
"transcript": "XM_047442520.1",
"protein_id": "XP_047298476.1",
"transcript_support_level": null,
"aa_start": 937,
"aa_end": null,
"aa_length": 1129,
"cds_start": 2809,
"cds_end": null,
"cds_length": 3390,
"cdna_start": 2858,
"cdna_end": null,
"cdna_length": 4089,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG13",
"gene_hgnc_id": 30881,
"hgvs_c": "c.2794_2796delCCT",
"hgvs_p": "p.Pro932del",
"transcript": "XM_006724693.4",
"protein_id": "XP_006724756.1",
"transcript_support_level": null,
"aa_start": 932,
"aa_end": null,
"aa_length": 1124,
"cds_start": 2794,
"cds_end": null,
"cds_length": 3375,
"cdna_start": 2843,
"cdna_end": null,
"cdna_length": 4074,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG13",
"gene_hgnc_id": 30881,
"hgvs_c": "c.2734_2736delCCT",
"hgvs_p": "p.Pro912del",
"transcript": "XM_047442521.1",
"protein_id": "XP_047298477.1",
"transcript_support_level": null,
"aa_start": 912,
"aa_end": null,
"aa_length": 1104,
"cds_start": 2734,
"cds_end": null,
"cds_length": 3315,
"cdna_start": 2783,
"cdna_end": null,
"cdna_length": 4014,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG13",
"gene_hgnc_id": 30881,
"hgvs_c": "c.2662_2664delCCT",
"hgvs_p": "p.Pro888del",
"transcript": "XM_047442522.1",
"protein_id": "XP_047298478.1",
"transcript_support_level": null,
"aa_start": 888,
"aa_end": null,
"aa_length": 1080,
"cds_start": 2662,
"cds_end": null,
"cds_length": 3243,
"cdna_start": 2711,
"cdna_end": null,
"cdna_length": 3942,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG13",
"gene_hgnc_id": 30881,
"hgvs_c": "c.2593_2595delCCT",
"hgvs_p": "p.Pro865del",
"transcript": "XM_006724697.4",
"protein_id": "XP_006724760.2",
"transcript_support_level": null,
"aa_start": 865,
"aa_end": null,
"aa_length": 1057,
"cds_start": 2593,
"cds_end": null,
"cds_length": 3174,
"cdna_start": 2850,
"cdna_end": null,
"cdna_length": 4081,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG13",
"gene_hgnc_id": 30881,
"hgvs_c": "c.2593_2595delCCT",
"hgvs_p": "p.Pro865del",
"transcript": "XM_006724698.4",
"protein_id": "XP_006724761.2",
"transcript_support_level": null,
"aa_start": 865,
"aa_end": null,
"aa_length": 1057,
"cds_start": 2593,
"cds_end": null,
"cds_length": 3174,
"cdna_start": 2975,
"cdna_end": null,
"cdna_length": 4206,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG13",
"gene_hgnc_id": 30881,
"hgvs_c": "c.2593_2595delCCT",
"hgvs_p": "p.Pro865del",
"transcript": "XM_011531031.2",
"protein_id": "XP_011529333.1",
"transcript_support_level": null,
"aa_start": 865,
"aa_end": null,
"aa_length": 1057,
"cds_start": 2593,
"cds_end": null,
"cds_length": 3174,
"cdna_start": 3079,
"cdna_end": null,
"cdna_length": 4310,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG13",
"gene_hgnc_id": 30881,
"hgvs_c": "c.2593_2595delCCT",
"hgvs_p": "p.Pro865del",
"transcript": "XM_011531032.2",
"protein_id": "XP_011529334.1",
"transcript_support_level": null,
"aa_start": 865,
"aa_end": null,
"aa_length": 1057,
"cds_start": 2593,
"cds_end": null,
"cds_length": 3174,
"cdna_start": 2890,
"cdna_end": null,
"cdna_length": 4121,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG13",
"gene_hgnc_id": 30881,
"hgvs_c": "c.2593_2595delCCT",
"hgvs_p": "p.Pro865del",
"transcript": "XM_011531033.4",
"protein_id": "XP_011529335.1",
"transcript_support_level": null,
"aa_start": 865,
"aa_end": null,
"aa_length": 1057,
"cds_start": 2593,
"cds_end": null,
"cds_length": 3174,
"cdna_start": 2994,
"cdna_end": null,
"cdna_length": 4225,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG13",
"gene_hgnc_id": 30881,
"hgvs_c": "c.2521_2523delCCT",
"hgvs_p": "p.Pro841del",
"transcript": "XM_047442524.1",
"protein_id": "XP_047298480.1",
"transcript_support_level": null,
"aa_start": 841,
"aa_end": null,
"aa_length": 1033,
"cds_start": 2521,
"cds_end": null,
"cds_length": 3102,
"cdna_start": 2818,
"cdna_end": null,
"cdna_length": 4049,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG13",
"gene_hgnc_id": 30881,
"hgvs_c": "c.2296_2298delCCT",
"hgvs_p": "p.Pro766del",
"transcript": "XM_011531034.3",
"protein_id": "XP_011529336.1",
"transcript_support_level": null,
"aa_start": 766,
"aa_end": null,
"aa_length": 958,
"cds_start": 2296,
"cds_end": null,
"cds_length": 2877,
"cdna_start": 2707,
"cdna_end": null,
"cdna_length": 3938,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG13",
"gene_hgnc_id": 30881,
"hgvs_c": "c.2101_2103delCCT",
"hgvs_p": "p.Pro701del",
"transcript": "XM_047442526.1",
"protein_id": "XP_047298482.1",
"transcript_support_level": null,
"aa_start": 701,
"aa_end": null,
"aa_length": 893,
"cds_start": 2101,
"cds_end": null,
"cds_length": 2682,
"cdna_start": 2339,
"cdna_end": null,
"cdna_length": 3570,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG13",
"gene_hgnc_id": 30881,
"hgvs_c": "c.1936_1938delCCT",
"hgvs_p": "p.Pro646del",
"transcript": "XM_017029852.2",
"protein_id": "XP_016885341.1",
"transcript_support_level": null,
"aa_start": 646,
"aa_end": null,
"aa_length": 838,
"cds_start": 1936,
"cds_end": null,
"cds_length": 2517,
"cdna_start": 1952,
"cdna_end": null,
"cdna_length": 3183,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG13",
"gene_hgnc_id": 30881,
"hgvs_c": "c.1909_1911delCCT",
"hgvs_p": "p.Pro637del",
"transcript": "XM_047442527.1",
"protein_id": "XP_047298483.1",
"transcript_support_level": null,
"aa_start": 637,
"aa_end": null,
"aa_length": 829,
"cds_start": 1909,
"cds_end": null,
"cds_length": 2490,
"cdna_start": 1947,
"cdna_end": null,
"cdna_length": 3178,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG13",
"gene_hgnc_id": 30881,
"hgvs_c": "c.1654_1656delCCT",
"hgvs_p": "p.Pro552del",
"transcript": "XM_047442528.1",
"protein_id": "XP_047298484.1",
"transcript_support_level": null,
"aa_start": 552,
"aa_end": null,
"aa_length": 744,
"cds_start": 1654,
"cds_end": null,
"cds_length": 2235,
"cdna_start": 2084,
"cdna_end": null,
"cdna_length": 3315,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG13",
"gene_hgnc_id": 30881,
"hgvs_c": "c.1582_1584delCCT",
"hgvs_p": "p.Pro528del",
"transcript": "XM_047442529.1",
"protein_id": "XP_047298485.1",
"transcript_support_level": null,
"aa_start": 528,
"aa_end": null,
"aa_length": 720,
"cds_start": 1582,
"cds_end": null,
"cds_length": 2163,
"cdna_start": 2181,
"cdna_end": null,
"cdna_length": 3412,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG13",
"gene_hgnc_id": 30881,
"hgvs_c": "c.1450_1452delCCT",
"hgvs_p": "p.Pro484del",
"transcript": "XM_047442530.1",
"protein_id": "XP_047298486.1",
"transcript_support_level": null,
"aa_start": 484,
"aa_end": null,
"aa_length": 676,
"cds_start": 1450,
"cds_end": null,
"cds_length": 2031,
"cdna_start": 1546,
"cdna_end": null,
"cdna_length": 2777,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG13",
"gene_hgnc_id": 30881,
"hgvs_c": "c.1429_1431delCCT",
"hgvs_p": "p.Pro477del",
"transcript": "XM_047442531.1",
"protein_id": "XP_047298487.1",
"transcript_support_level": null,
"aa_start": 477,
"aa_end": null,
"aa_length": 669,
"cds_start": 1429,
"cds_end": null,
"cds_length": 2010,
"cdna_start": 1590,
"cdna_end": null,
"cdna_length": 2821,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG13",
"gene_hgnc_id": 30881,
"hgvs_c": "n.*1825_*1827delCCT",
"hgvs_p": null,
"transcript": "ENST00000470971.5",
"protein_id": "ENSP00000479424.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3200,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG13",
"gene_hgnc_id": 30881,
"hgvs_c": "n.*2743_*2745delCCT",
"hgvs_p": null,
"transcript": "ENST00000623148.3",
"protein_id": "ENSP00000485658.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3689,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG13",
"gene_hgnc_id": 30881,
"hgvs_c": "n.*1825_*1827delCCT",
"hgvs_p": null,
"transcript": "ENST00000470971.5",
"protein_id": "ENSP00000479424.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3200,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG13",
"gene_hgnc_id": 30881,
"hgvs_c": "n.*2743_*2745delCCT",
"hgvs_p": null,
"transcript": "ENST00000623148.3",
"protein_id": "ENSP00000485658.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3689,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "ALG13",
"gene_hgnc_id": 30881,
"hgvs_c": "c.2695+7926_2695+7928delCCT",
"hgvs_p": null,
"transcript": "NM_001324292.2",
"protein_id": "NP_001311221.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1058,
"cds_start": -4,
"cds_end": null,
"cds_length": 3177,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3876,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "ALG13",
"gene_hgnc_id": 30881,
"hgvs_c": "c.2521+7926_2521+7928delCCT",
"hgvs_p": null,
"transcript": "ENST00000623622.2",
"protein_id": "ENSP00000485624.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1000,
"cds_start": -4,
"cds_end": null,
"cds_length": 3003,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3413,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "ALG13",
"gene_hgnc_id": 30881,
"hgvs_c": "c.2383+7926_2383+7928delCCT",
"hgvs_p": null,
"transcript": "NM_001257230.2",
"protein_id": "NP_001244159.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 954,
"cds_start": -4,
"cds_end": null,
"cds_length": 2865,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3772,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "ALG13",
"gene_hgnc_id": 30881,
"hgvs_c": "c.2383+7926_2383+7928delCCT",
"hgvs_p": null,
"transcript": "NM_001257234.2",
"protein_id": "NP_001244163.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 954,
"cds_start": -4,
"cds_end": null,
"cds_length": 2865,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3897,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "ALG13",
"gene_hgnc_id": 30881,
"hgvs_c": "c.2383+7926_2383+7928delCCT",
"hgvs_p": null,
"transcript": "NM_001257237.2",
"protein_id": "NP_001244166.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 954,
"cds_start": -4,
"cds_end": null,
"cds_length": 2865,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4001,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "ALG13",
"gene_hgnc_id": 30881,
"hgvs_c": "c.2383+7926_2383+7928delCCT",
"hgvs_p": null,
"transcript": "ENST00000436609.5",
"protein_id": "ENSP00000392990.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 954,
"cds_start": -4,
"cds_end": null,
"cds_length": 2865,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3812,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "ALG13",
"gene_hgnc_id": 30881,
"hgvs_c": "c.2209+7926_2209+7928delCCT",
"hgvs_p": null,
"transcript": "NM_001324293.1",
"protein_id": "NP_001311222.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 896,
"cds_start": -4,
"cds_end": null,
"cds_length": 2691,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3827,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ALG13",
"gene_hgnc_id": 30881,
"hgvs_c": "n.55+7724_55+7726delCCT",
"hgvs_p": null,
"transcript": "ENST00000461669.5",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 699,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "ALG13",
"gene_hgnc_id": 30881,
"hgvs_c": "n.*2560+7926_*2560+7928delCCT",
"hgvs_p": null,
"transcript": "ENST00000495283.5",
"protein_id": "ENSP00000427093.3",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3236,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "ALG13",
"gene_hgnc_id": 30881,
"hgvs_c": "n.*2664+7926_*2664+7928delCCT",
"hgvs_p": null,
"transcript": "ENST00000623144.3",
"protein_id": "ENSP00000485279.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3693,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "ALG13",
"gene_hgnc_id": 30881,
"hgvs_c": "n.*2459+7926_*2459+7928delCCT",
"hgvs_p": null,
"transcript": "ENST00000624161.3",
"protein_id": "ENSP00000485181.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3761,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "ALG13",
"gene_hgnc_id": 30881,
"hgvs_c": "n.*1483+7926_*1483+7928delCCT",
"hgvs_p": null,
"transcript": "ENST00000636363.1",
"protein_id": "ENSP00000490681.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3480,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "ALG13",
"gene_hgnc_id": 30881,
"hgvs_c": "n.*2490+7926_*2490+7928delCCT",
"hgvs_p": null,
"transcript": "ENST00000699748.1",
"protein_id": "ENSP00000514558.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3703,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "ALG13",
"gene_hgnc_id": 30881,
"hgvs_c": "n.*1122+7926_*1122+7928delCCT",
"hgvs_p": null,
"transcript": "ENST00000699778.1",
"protein_id": "ENSP00000514584.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2725,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "ALG13",
"gene_hgnc_id": 30881,
"hgvs_c": "n.2423+7926_2423+7928delCCT",
"hgvs_p": null,
"transcript": "NR_148693.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3555,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 24,
"intron_rank_end": null,
"gene_symbol": "ALG13",
"gene_hgnc_id": 30881,
"hgvs_c": "c.2767+7926_2767+7928delCCT",
"hgvs_p": null,
"transcript": "XM_011531030.3",
"protein_id": "XP_011529332.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1082,
"cds_start": -4,
"cds_end": null,
"cds_length": 3249,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3948,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "ALG13",
"gene_hgnc_id": 30881,
"hgvs_c": "c.2671+7926_2671+7928delCCT",
"hgvs_p": null,
"transcript": "XM_017029848.2",
"protein_id": "XP_016885337.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1050,
"cds_start": -4,
"cds_end": null,
"cds_length": 3153,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3852,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "ALG13",
"gene_hgnc_id": 30881,
"hgvs_c": "c.2656+7926_2656+7928delCCT",
"hgvs_p": null,
"transcript": "XM_047442523.1",
"protein_id": "XP_047298479.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1045,
"cds_start": -4,
"cds_end": null,
"cds_length": 3138,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3837,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "ALG13",
"gene_hgnc_id": 30881,
"hgvs_c": "c.2524+7926_2524+7928delCCT",
"hgvs_p": null,
"transcript": "XM_047442525.1",
"protein_id": "XP_047298481.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1001,
"cds_start": -4,
"cds_end": null,
"cds_length": 3006,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3705,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG13",
"gene_hgnc_id": 30881,
"hgvs_c": "c.-78_-76delCCT",
"hgvs_p": null,
"transcript": "ENST00000474121.1",
"protein_id": "ENSP00000485400.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 41,
"cds_start": -4,
"cds_end": null,
"cds_length": 126,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 436,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ALG13",
"gene_hgnc_id": 30881,
"dbsnp": "rs56717389",
"frequency_reference_population": 0.048346993,
"hom_count_reference_population": 1270,
"allele_count_reference_population": 22031,
"gnomad_exomes_af": 0.0492846,
"gnomad_genomes_af": 0.0377415,
"gnomad_exomes_ac": 20634,
"gnomad_genomes_ac": 1397,
"gnomad_exomes_homalt": 30,
"gnomad_genomes_homalt": 35,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": -0.159,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -17,
"acmg_classification": "Benign",
"acmg_criteria": "BP3,BP6_Very_Strong,BA1",
"acmg_by_gene": [
{
"score": -17,
"benign_score": 17,
"pathogenic_score": 0,
"criteria": [
"BP3",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000394780.8",
"gene_symbol": "ALG13",
"hgnc_id": 30881,
"effects": [
"conservative_inframe_deletion"
],
"inheritance_mode": "XL",
"hgvs_c": "c.2833_2835delCCT",
"hgvs_p": "p.Pro945del"
}
],
"clinvar_disease": " 36,ALG13-related disorder,Developmental and epileptic encephalopathy,Inborn genetic diseases,not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:4",
"phenotype_combined": "not specified|Developmental and epileptic encephalopathy, 36|Inborn genetic diseases|ALG13-related disorder|not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}