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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-ACCTCCTCCT-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=111744768&ref=ACCTCCTCCT&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 111744768,
"ref": "ACCTCCTCCT",
"alt": "A",
"effect": "conservative_inframe_deletion",
"transcript": "ENST00000394780.8",
"consequences": [
{
"aa_ref": "PPP",
"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.2827_2835delCCTCCTCCT",
"hgvs_p": "p.Pro943_Pro945del",
"transcript": "NM_001099922.3",
"protein_id": "NP_001093392.1",
"transcript_support_level": null,
"aa_start": 943,
"aa_end": null,
"aa_length": 1137,
"cds_start": 2827,
"cds_end": null,
"cds_length": 3414,
"cdna_start": 2876,
"cdna_end": null,
"cdna_length": 4113,
"mane_select": "ENST00000394780.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "PPP",
"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.2827_2835delCCTCCTCCT",
"hgvs_p": "p.Pro943_Pro945del",
"transcript": "ENST00000394780.8",
"protein_id": "ENSP00000378260.3",
"transcript_support_level": 2,
"aa_start": 943,
"aa_end": null,
"aa_length": 1137,
"cds_start": 2827,
"cds_end": null,
"cds_length": 3414,
"cdna_start": 2876,
"cdna_end": null,
"cdna_length": 4113,
"mane_select": "NM_001099922.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "PPP",
"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.2593_2601delCCTCCTCCT",
"hgvs_p": "p.Pro865_Pro867del",
"transcript": "NM_001257231.2",
"protein_id": "NP_001244160.1",
"transcript_support_level": null,
"aa_start": 865,
"aa_end": null,
"aa_length": 1059,
"cds_start": 2593,
"cds_end": null,
"cds_length": 3180,
"cdna_start": 2942,
"cdna_end": null,
"cdna_length": 4179,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "PPP",
"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.2899_2907delCCTCCTCCT",
"hgvs_p": "p.Pro967_Pro969del",
"transcript": "XM_011531028.3",
"protein_id": "XP_011529330.1",
"transcript_support_level": null,
"aa_start": 967,
"aa_end": null,
"aa_length": 1161,
"cds_start": 2899,
"cds_end": null,
"cds_length": 3486,
"cdna_start": 2948,
"cdna_end": null,
"cdna_length": 4185,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "PPP",
"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.2875_2883delCCTCCTCCT",
"hgvs_p": "p.Pro959_Pro961del",
"transcript": "XM_017029846.2",
"protein_id": "XP_016885335.1",
"transcript_support_level": null,
"aa_start": 959,
"aa_end": null,
"aa_length": 1153,
"cds_start": 2875,
"cds_end": null,
"cds_length": 3462,
"cdna_start": 2924,
"cdna_end": null,
"cdna_length": 4161,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "PPP",
"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.2860_2868delCCTCCTCCT",
"hgvs_p": "p.Pro954_Pro956del",
"transcript": "XM_017029847.2",
"protein_id": "XP_016885336.1",
"transcript_support_level": null,
"aa_start": 954,
"aa_end": null,
"aa_length": 1148,
"cds_start": 2860,
"cds_end": null,
"cds_length": 3447,
"cdna_start": 2909,
"cdna_end": null,
"cdna_length": 4146,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "PPP",
"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.2803_2811delCCTCCTCCT",
"hgvs_p": "p.Pro935_Pro937del",
"transcript": "XM_047442520.1",
"protein_id": "XP_047298476.1",
"transcript_support_level": null,
"aa_start": 935,
"aa_end": null,
"aa_length": 1129,
"cds_start": 2803,
"cds_end": null,
"cds_length": 3390,
"cdna_start": 2852,
"cdna_end": null,
"cdna_length": 4089,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "PPP",
"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.2788_2796delCCTCCTCCT",
"hgvs_p": "p.Pro930_Pro932del",
"transcript": "XM_006724693.4",
"protein_id": "XP_006724756.1",
"transcript_support_level": null,
"aa_start": 930,
"aa_end": null,
"aa_length": 1124,
"cds_start": 2788,
"cds_end": null,
"cds_length": 3375,
"cdna_start": 2837,
"cdna_end": null,
"cdna_length": 4074,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "PPP",
"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.2728_2736delCCTCCTCCT",
"hgvs_p": "p.Pro910_Pro912del",
"transcript": "XM_047442521.1",
"protein_id": "XP_047298477.1",
"transcript_support_level": null,
"aa_start": 910,
"aa_end": null,
"aa_length": 1104,
"cds_start": 2728,
"cds_end": null,
"cds_length": 3315,
"cdna_start": 2777,
"cdna_end": null,
"cdna_length": 4014,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "PPP",
"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.2656_2664delCCTCCTCCT",
"hgvs_p": "p.Pro886_Pro888del",
"transcript": "XM_047442522.1",
"protein_id": "XP_047298478.1",
"transcript_support_level": null,
"aa_start": 886,
"aa_end": null,
"aa_length": 1080,
"cds_start": 2656,
"cds_end": null,
"cds_length": 3243,
"cdna_start": 2705,
"cdna_end": null,
"cdna_length": 3942,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "PPP",
"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.2587_2595delCCTCCTCCT",
"hgvs_p": "p.Pro863_Pro865del",
"transcript": "XM_006724697.4",
"protein_id": "XP_006724760.2",
"transcript_support_level": null,
"aa_start": 863,
"aa_end": null,
"aa_length": 1057,
"cds_start": 2587,
"cds_end": null,
"cds_length": 3174,
"cdna_start": 2844,
"cdna_end": null,
"cdna_length": 4081,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "PPP",
"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.2587_2595delCCTCCTCCT",
"hgvs_p": "p.Pro863_Pro865del",
"transcript": "XM_006724698.4",
"protein_id": "XP_006724761.2",
"transcript_support_level": null,
"aa_start": 863,
"aa_end": null,
"aa_length": 1057,
"cds_start": 2587,
"cds_end": null,
"cds_length": 3174,
"cdna_start": 2969,
"cdna_end": null,
"cdna_length": 4206,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "PPP",
"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.2587_2595delCCTCCTCCT",
"hgvs_p": "p.Pro863_Pro865del",
"transcript": "XM_011531031.2",
"protein_id": "XP_011529333.1",
"transcript_support_level": null,
"aa_start": 863,
"aa_end": null,
"aa_length": 1057,
"cds_start": 2587,
"cds_end": null,
"cds_length": 3174,
"cdna_start": 3073,
"cdna_end": null,
"cdna_length": 4310,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "PPP",
"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.2587_2595delCCTCCTCCT",
"hgvs_p": "p.Pro863_Pro865del",
"transcript": "XM_011531032.2",
"protein_id": "XP_011529334.1",
"transcript_support_level": null,
"aa_start": 863,
"aa_end": null,
"aa_length": 1057,
"cds_start": 2587,
"cds_end": null,
"cds_length": 3174,
"cdna_start": 2884,
"cdna_end": null,
"cdna_length": 4121,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "PPP",
"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.2587_2595delCCTCCTCCT",
"hgvs_p": "p.Pro863_Pro865del",
"transcript": "XM_011531033.4",
"protein_id": "XP_011529335.1",
"transcript_support_level": null,
"aa_start": 863,
"aa_end": null,
"aa_length": 1057,
"cds_start": 2587,
"cds_end": null,
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"cdna_start": 2988,
"cdna_end": null,
"cdna_length": 4225,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "PPP",
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"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.2515_2523delCCTCCTCCT",
"hgvs_p": "p.Pro839_Pro841del",
"transcript": "XM_047442524.1",
"protein_id": "XP_047298480.1",
"transcript_support_level": null,
"aa_start": 839,
"aa_end": null,
"aa_length": 1033,
"cds_start": 2515,
"cds_end": null,
"cds_length": 3102,
"cdna_start": 2812,
"cdna_end": null,
"cdna_length": 4049,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "PPP",
"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.2290_2298delCCTCCTCCT",
"hgvs_p": "p.Pro764_Pro766del",
"transcript": "XM_011531034.3",
"protein_id": "XP_011529336.1",
"transcript_support_level": null,
"aa_start": 764,
"aa_end": null,
"aa_length": 958,
"cds_start": 2290,
"cds_end": null,
"cds_length": 2877,
"cdna_start": 2701,
"cdna_end": null,
"cdna_length": 3938,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "PPP",
"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.2095_2103delCCTCCTCCT",
"hgvs_p": "p.Pro699_Pro701del",
"transcript": "XM_047442526.1",
"protein_id": "XP_047298482.1",
"transcript_support_level": null,
"aa_start": 699,
"aa_end": null,
"aa_length": 893,
"cds_start": 2095,
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"cdna_start": 2333,
"cdna_end": null,
"cdna_length": 3570,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"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.1930_1938delCCTCCTCCT",
"hgvs_p": "p.Pro644_Pro646del",
"transcript": "XM_017029852.2",
"protein_id": "XP_016885341.1",
"transcript_support_level": null,
"aa_start": 644,
"aa_end": null,
"aa_length": 838,
"cds_start": 1930,
"cds_end": null,
"cds_length": 2517,
"cdna_start": 1946,
"cdna_end": null,
"cdna_length": 3183,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "PPP",
"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.1903_1911delCCTCCTCCT",
"hgvs_p": "p.Pro635_Pro637del",
"transcript": "XM_047442527.1",
"protein_id": "XP_047298483.1",
"transcript_support_level": null,
"aa_start": 635,
"aa_end": null,
"aa_length": 829,
"cds_start": 1903,
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"cds_length": 2490,
"cdna_start": 1941,
"cdna_end": null,
"cdna_length": 3178,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "PPP",
"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.1648_1656delCCTCCTCCT",
"hgvs_p": "p.Pro550_Pro552del",
"transcript": "XM_047442528.1",
"protein_id": "XP_047298484.1",
"transcript_support_level": null,
"aa_start": 550,
"aa_end": null,
"aa_length": 744,
"cds_start": 1648,
"cds_end": null,
"cds_length": 2235,
"cdna_start": 2078,
"cdna_end": null,
"cdna_length": 3315,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "PPP",
"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.1576_1584delCCTCCTCCT",
"hgvs_p": "p.Pro526_Pro528del",
"transcript": "XM_047442529.1",
"protein_id": "XP_047298485.1",
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],
"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+7920_2656+7928delCCTCCTCCT",
"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+7920_2524+7928delCCTCCTCCT",
"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_-70delCCTCCTCCT",
"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": 0.00020191721,
"hom_count_reference_population": 28,
"allele_count_reference_population": 120,
"gnomad_exomes_af": 0.000201024,
"gnomad_genomes_af": 0.000215308,
"gnomad_exomes_ac": 112,
"gnomad_genomes_ac": 8,
"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": 0.29,
"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,BS1,BS2",
"acmg_by_gene": [
{
"score": -17,
"benign_score": 17,
"pathogenic_score": 0,
"criteria": [
"BP3",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000394780.8",
"gene_symbol": "ALG13",
"hgnc_id": 30881,
"effects": [
"conservative_inframe_deletion"
],
"inheritance_mode": "XL",
"hgvs_c": "c.2827_2835delCCTCCTCCT",
"hgvs_p": "p.Pro943_Pro945del"
}
],
"clinvar_disease": " 36,Developmental and epileptic encephalopathy,not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:3",
"phenotype_combined": "Developmental and epileptic encephalopathy, 36|not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}