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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-ACCTCCT-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=111744768&ref=ACCTCCT&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 111744768,
"ref": "ACCTCCT",
"alt": "A",
"effect": "conservative_inframe_deletion",
"transcript": "ENST00000394780.8",
"consequences": [
{
"aa_ref": "PP",
"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.2830_2835delCCTCCT",
"hgvs_p": "p.Pro944_Pro945del",
"transcript": "NM_001099922.3",
"protein_id": "NP_001093392.1",
"transcript_support_level": null,
"aa_start": 944,
"aa_end": null,
"aa_length": 1137,
"cds_start": 2830,
"cds_end": null,
"cds_length": 3414,
"cdna_start": 2879,
"cdna_end": null,
"cdna_length": 4113,
"mane_select": "ENST00000394780.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "PP",
"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.2830_2835delCCTCCT",
"hgvs_p": "p.Pro944_Pro945del",
"transcript": "ENST00000394780.8",
"protein_id": "ENSP00000378260.3",
"transcript_support_level": 2,
"aa_start": 944,
"aa_end": null,
"aa_length": 1137,
"cds_start": 2830,
"cds_end": null,
"cds_length": 3414,
"cdna_start": 2879,
"cdna_end": null,
"cdna_length": 4113,
"mane_select": "NM_001099922.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "PP",
"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.2596_2601delCCTCCT",
"hgvs_p": "p.Pro866_Pro867del",
"transcript": "NM_001257231.2",
"protein_id": "NP_001244160.1",
"transcript_support_level": null,
"aa_start": 866,
"aa_end": null,
"aa_length": 1059,
"cds_start": 2596,
"cds_end": null,
"cds_length": 3180,
"cdna_start": 2945,
"cdna_end": null,
"cdna_length": 4179,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "PP",
"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.2902_2907delCCTCCT",
"hgvs_p": "p.Pro968_Pro969del",
"transcript": "XM_011531028.3",
"protein_id": "XP_011529330.1",
"transcript_support_level": null,
"aa_start": 968,
"aa_end": null,
"aa_length": 1161,
"cds_start": 2902,
"cds_end": null,
"cds_length": 3486,
"cdna_start": 2951,
"cdna_end": null,
"cdna_length": 4185,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "PP",
"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.2878_2883delCCTCCT",
"hgvs_p": "p.Pro960_Pro961del",
"transcript": "XM_017029846.2",
"protein_id": "XP_016885335.1",
"transcript_support_level": null,
"aa_start": 960,
"aa_end": null,
"aa_length": 1153,
"cds_start": 2878,
"cds_end": null,
"cds_length": 3462,
"cdna_start": 2927,
"cdna_end": null,
"cdna_length": 4161,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "PP",
"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.2863_2868delCCTCCT",
"hgvs_p": "p.Pro955_Pro956del",
"transcript": "XM_017029847.2",
"protein_id": "XP_016885336.1",
"transcript_support_level": null,
"aa_start": 955,
"aa_end": null,
"aa_length": 1148,
"cds_start": 2863,
"cds_end": null,
"cds_length": 3447,
"cdna_start": 2912,
"cdna_end": null,
"cdna_length": 4146,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "PP",
"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.2806_2811delCCTCCT",
"hgvs_p": "p.Pro936_Pro937del",
"transcript": "XM_047442520.1",
"protein_id": "XP_047298476.1",
"transcript_support_level": null,
"aa_start": 936,
"aa_end": null,
"aa_length": 1129,
"cds_start": 2806,
"cds_end": null,
"cds_length": 3390,
"cdna_start": 2855,
"cdna_end": null,
"cdna_length": 4089,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "PP",
"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.2791_2796delCCTCCT",
"hgvs_p": "p.Pro931_Pro932del",
"transcript": "XM_006724693.4",
"protein_id": "XP_006724756.1",
"transcript_support_level": null,
"aa_start": 931,
"aa_end": null,
"aa_length": 1124,
"cds_start": 2791,
"cds_end": null,
"cds_length": 3375,
"cdna_start": 2840,
"cdna_end": null,
"cdna_length": 4074,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "PP",
"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.2731_2736delCCTCCT",
"hgvs_p": "p.Pro911_Pro912del",
"transcript": "XM_047442521.1",
"protein_id": "XP_047298477.1",
"transcript_support_level": null,
"aa_start": 911,
"aa_end": null,
"aa_length": 1104,
"cds_start": 2731,
"cds_end": null,
"cds_length": 3315,
"cdna_start": 2780,
"cdna_end": null,
"cdna_length": 4014,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "PP",
"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.2659_2664delCCTCCT",
"hgvs_p": "p.Pro887_Pro888del",
"transcript": "XM_047442522.1",
"protein_id": "XP_047298478.1",
"transcript_support_level": null,
"aa_start": 887,
"aa_end": null,
"aa_length": 1080,
"cds_start": 2659,
"cds_end": null,
"cds_length": 3243,
"cdna_start": 2708,
"cdna_end": null,
"cdna_length": 3942,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "PP",
"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.2590_2595delCCTCCT",
"hgvs_p": "p.Pro864_Pro865del",
"transcript": "XM_006724697.4",
"protein_id": "XP_006724760.2",
"transcript_support_level": null,
"aa_start": 864,
"aa_end": null,
"aa_length": 1057,
"cds_start": 2590,
"cds_end": null,
"cds_length": 3174,
"cdna_start": 2847,
"cdna_end": null,
"cdna_length": 4081,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "PP",
"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.2590_2595delCCTCCT",
"hgvs_p": "p.Pro864_Pro865del",
"transcript": "XM_006724698.4",
"protein_id": "XP_006724761.2",
"transcript_support_level": null,
"aa_start": 864,
"aa_end": null,
"aa_length": 1057,
"cds_start": 2590,
"cds_end": null,
"cds_length": 3174,
"cdna_start": 2972,
"cdna_end": null,
"cdna_length": 4206,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "PP",
"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.2590_2595delCCTCCT",
"hgvs_p": "p.Pro864_Pro865del",
"transcript": "XM_011531031.2",
"protein_id": "XP_011529333.1",
"transcript_support_level": null,
"aa_start": 864,
"aa_end": null,
"aa_length": 1057,
"cds_start": 2590,
"cds_end": null,
"cds_length": 3174,
"cdna_start": 3076,
"cdna_end": null,
"cdna_length": 4310,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "PP",
"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.2590_2595delCCTCCT",
"hgvs_p": "p.Pro864_Pro865del",
"transcript": "XM_011531032.2",
"protein_id": "XP_011529334.1",
"transcript_support_level": null,
"aa_start": 864,
"aa_end": null,
"aa_length": 1057,
"cds_start": 2590,
"cds_end": null,
"cds_length": 3174,
"cdna_start": 2887,
"cdna_end": null,
"cdna_length": 4121,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "PP",
"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.2590_2595delCCTCCT",
"hgvs_p": "p.Pro864_Pro865del",
"transcript": "XM_011531033.4",
"protein_id": "XP_011529335.1",
"transcript_support_level": null,
"aa_start": 864,
"aa_end": null,
"aa_length": 1057,
"cds_start": 2590,
"cds_end": null,
"cds_length": 3174,
"cdna_start": 2991,
"cdna_end": null,
"cdna_length": 4225,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "PP",
"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.2518_2523delCCTCCT",
"hgvs_p": "p.Pro840_Pro841del",
"transcript": "XM_047442524.1",
"protein_id": "XP_047298480.1",
"transcript_support_level": null,
"aa_start": 840,
"aa_end": null,
"aa_length": 1033,
"cds_start": 2518,
"cds_end": null,
"cds_length": 3102,
"cdna_start": 2815,
"cdna_end": null,
"cdna_length": 4049,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "PP",
"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.2293_2298delCCTCCT",
"hgvs_p": "p.Pro765_Pro766del",
"transcript": "XM_011531034.3",
"protein_id": "XP_011529336.1",
"transcript_support_level": null,
"aa_start": 765,
"aa_end": null,
"aa_length": 958,
"cds_start": 2293,
"cds_end": null,
"cds_length": 2877,
"cdna_start": 2704,
"cdna_end": null,
"cdna_length": 3938,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "PP",
"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.2098_2103delCCTCCT",
"hgvs_p": "p.Pro700_Pro701del",
"transcript": "XM_047442526.1",
"protein_id": "XP_047298482.1",
"transcript_support_level": null,
"aa_start": 700,
"aa_end": null,
"aa_length": 893,
"cds_start": 2098,
"cds_end": null,
"cds_length": 2682,
"cdna_start": 2336,
"cdna_end": null,
"cdna_length": 3570,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "PP",
"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.1933_1938delCCTCCT",
"hgvs_p": "p.Pro645_Pro646del",
"transcript": "XM_017029852.2",
"protein_id": "XP_016885341.1",
"transcript_support_level": null,
"aa_start": 645,
"aa_end": null,
"aa_length": 838,
"cds_start": 1933,
"cds_end": null,
"cds_length": 2517,
"cdna_start": 1949,
"cdna_end": null,
"cdna_length": 3183,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "PP",
"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.1906_1911delCCTCCT",
"hgvs_p": "p.Pro636_Pro637del",
"transcript": "XM_047442527.1",
"protein_id": "XP_047298483.1",
"transcript_support_level": null,
"aa_start": 636,
"aa_end": null,
"aa_length": 829,
"cds_start": 1906,
"cds_end": null,
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"cdna_start": 1944,
"cdna_end": null,
"cdna_length": 3178,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "PP",
"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.1651_1656delCCTCCT",
"hgvs_p": "p.Pro551_Pro552del",
"transcript": "XM_047442528.1",
"protein_id": "XP_047298484.1",
"transcript_support_level": null,
"aa_start": 551,
"aa_end": null,
"aa_length": 744,
"cds_start": 1651,
"cds_end": null,
"cds_length": 2235,
"cdna_start": 2081,
"cdna_end": null,
"cdna_length": 3315,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "PP",
"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.1579_1584delCCTCCT",
"hgvs_p": "p.Pro527_Pro528del",
"transcript": "XM_047442529.1",
"protein_id": "XP_047298485.1",
"transcript_support_level": null,
"aa_start": 527,
"aa_end": null,
"aa_length": 720,
"cds_start": 1579,
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"gene_hgnc_id": 30881,
"hgvs_c": "c.2656+7923_2656+7928delCCTCCT",
"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+7923_2524+7928delCCTCCT",
"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_-73delCCTCCT",
"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": 0.0014022043,
"hom_count_reference_population": 209,
"allele_count_reference_population": 829,
"gnomad_exomes_af": 0.00136628,
"gnomad_genomes_af": 0.00193793,
"gnomad_exomes_ac": 757,
"gnomad_genomes_ac": 72,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"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": 0.116,
"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": -10,
"acmg_classification": "Benign",
"acmg_criteria": "BP3,BP6,BS1,BS2",
"acmg_by_gene": [
{
"score": -10,
"benign_score": 10,
"pathogenic_score": 0,
"criteria": [
"BP3",
"BP6",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000394780.8",
"gene_symbol": "ALG13",
"hgnc_id": 30881,
"effects": [
"conservative_inframe_deletion"
],
"inheritance_mode": "XL",
"hgvs_c": "c.2830_2835delCCTCCT",
"hgvs_p": "p.Pro944_Pro945del"
}
],
"clinvar_disease": " 36,Developmental and epileptic encephalopathy,not provided",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:1 B:1",
"phenotype_combined": "Developmental and epileptic encephalopathy, 36|not provided",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}