← 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-111717904-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=111717904&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 111717904,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000394780.8",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG13",
"gene_hgnc_id": 30881,
"hgvs_c": "c.1064A>G",
"hgvs_p": "p.Gln355Arg",
"transcript": "NM_001099922.3",
"protein_id": "NP_001093392.1",
"transcript_support_level": null,
"aa_start": 355,
"aa_end": null,
"aa_length": 1137,
"cds_start": 1064,
"cds_end": null,
"cds_length": 3414,
"cdna_start": 1113,
"cdna_end": null,
"cdna_length": 4113,
"mane_select": "ENST00000394780.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG13",
"gene_hgnc_id": 30881,
"hgvs_c": "c.1064A>G",
"hgvs_p": "p.Gln355Arg",
"transcript": "ENST00000394780.8",
"protein_id": "ENSP00000378260.3",
"transcript_support_level": 2,
"aa_start": 355,
"aa_end": null,
"aa_length": 1137,
"cds_start": 1064,
"cds_end": null,
"cds_length": 3414,
"cdna_start": 1113,
"cdna_end": null,
"cdna_length": 4113,
"mane_select": "NM_001099922.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG13",
"gene_hgnc_id": 30881,
"hgvs_c": "c.830A>G",
"hgvs_p": "p.Gln277Arg",
"transcript": "NM_001257231.2",
"protein_id": "NP_001244160.1",
"transcript_support_level": null,
"aa_start": 277,
"aa_end": null,
"aa_length": 1059,
"cds_start": 830,
"cds_end": null,
"cds_length": 3180,
"cdna_start": 1179,
"cdna_end": null,
"cdna_length": 4179,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG13",
"gene_hgnc_id": 30881,
"hgvs_c": "c.1064A>G",
"hgvs_p": "p.Gln355Arg",
"transcript": "NM_001324292.2",
"protein_id": "NP_001311221.1",
"transcript_support_level": null,
"aa_start": 355,
"aa_end": null,
"aa_length": 1058,
"cds_start": 1064,
"cds_end": null,
"cds_length": 3177,
"cdna_start": 1113,
"cdna_end": null,
"cdna_length": 3876,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG13",
"gene_hgnc_id": 30881,
"hgvs_c": "c.1064A>G",
"hgvs_p": "p.Gln355Arg",
"transcript": "ENST00000623622.2",
"protein_id": "ENSP00000485624.2",
"transcript_support_level": 5,
"aa_start": 355,
"aa_end": null,
"aa_length": 1000,
"cds_start": 1064,
"cds_end": null,
"cds_length": 3003,
"cdna_start": 1133,
"cdna_end": null,
"cdna_length": 3413,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG13",
"gene_hgnc_id": 30881,
"hgvs_c": "c.752A>G",
"hgvs_p": "p.Gln251Arg",
"transcript": "NM_001257230.2",
"protein_id": "NP_001244159.1",
"transcript_support_level": null,
"aa_start": 251,
"aa_end": null,
"aa_length": 954,
"cds_start": 752,
"cds_end": null,
"cds_length": 2865,
"cdna_start": 1009,
"cdna_end": null,
"cdna_length": 3772,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG13",
"gene_hgnc_id": 30881,
"hgvs_c": "c.752A>G",
"hgvs_p": "p.Gln251Arg",
"transcript": "NM_001257234.2",
"protein_id": "NP_001244163.1",
"transcript_support_level": null,
"aa_start": 251,
"aa_end": null,
"aa_length": 954,
"cds_start": 752,
"cds_end": null,
"cds_length": 2865,
"cdna_start": 1134,
"cdna_end": null,
"cdna_length": 3897,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG13",
"gene_hgnc_id": 30881,
"hgvs_c": "c.752A>G",
"hgvs_p": "p.Gln251Arg",
"transcript": "NM_001257237.2",
"protein_id": "NP_001244166.1",
"transcript_support_level": null,
"aa_start": 251,
"aa_end": null,
"aa_length": 954,
"cds_start": 752,
"cds_end": null,
"cds_length": 2865,
"cdna_start": 1238,
"cdna_end": null,
"cdna_length": 4001,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG13",
"gene_hgnc_id": 30881,
"hgvs_c": "c.752A>G",
"hgvs_p": "p.Gln251Arg",
"transcript": "ENST00000436609.5",
"protein_id": "ENSP00000392990.2",
"transcript_support_level": 5,
"aa_start": 251,
"aa_end": null,
"aa_length": 954,
"cds_start": 752,
"cds_end": null,
"cds_length": 2865,
"cdna_start": 1049,
"cdna_end": null,
"cdna_length": 3812,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG13",
"gene_hgnc_id": 30881,
"hgvs_c": "c.752A>G",
"hgvs_p": "p.Gln251Arg",
"transcript": "NM_001324293.1",
"protein_id": "NP_001311222.1",
"transcript_support_level": null,
"aa_start": 251,
"aa_end": null,
"aa_length": 896,
"cds_start": 752,
"cds_end": null,
"cds_length": 2691,
"cdna_start": 1238,
"cdna_end": null,
"cdna_length": 3827,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG13",
"gene_hgnc_id": 30881,
"hgvs_c": "c.1064A>G",
"hgvs_p": "p.Gln355Arg",
"transcript": "XM_011531028.3",
"protein_id": "XP_011529330.1",
"transcript_support_level": null,
"aa_start": 355,
"aa_end": null,
"aa_length": 1161,
"cds_start": 1064,
"cds_end": null,
"cds_length": 3486,
"cdna_start": 1113,
"cdna_end": null,
"cdna_length": 4185,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG13",
"gene_hgnc_id": 30881,
"hgvs_c": "c.1064A>G",
"hgvs_p": "p.Gln355Arg",
"transcript": "XM_017029846.2",
"protein_id": "XP_016885335.1",
"transcript_support_level": null,
"aa_start": 355,
"aa_end": null,
"aa_length": 1153,
"cds_start": 1064,
"cds_end": null,
"cds_length": 3462,
"cdna_start": 1113,
"cdna_end": null,
"cdna_length": 4161,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG13",
"gene_hgnc_id": 30881,
"hgvs_c": "c.1064A>G",
"hgvs_p": "p.Gln355Arg",
"transcript": "XM_017029847.2",
"protein_id": "XP_016885336.1",
"transcript_support_level": null,
"aa_start": 355,
"aa_end": null,
"aa_length": 1148,
"cds_start": 1064,
"cds_end": null,
"cds_length": 3447,
"cdna_start": 1113,
"cdna_end": null,
"cdna_length": 4146,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG13",
"gene_hgnc_id": 30881,
"hgvs_c": "c.1064A>G",
"hgvs_p": "p.Gln355Arg",
"transcript": "XM_047442520.1",
"protein_id": "XP_047298476.1",
"transcript_support_level": null,
"aa_start": 355,
"aa_end": null,
"aa_length": 1129,
"cds_start": 1064,
"cds_end": null,
"cds_length": 3390,
"cdna_start": 1113,
"cdna_end": null,
"cdna_length": 4089,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG13",
"gene_hgnc_id": 30881,
"hgvs_c": "c.1064A>G",
"hgvs_p": "p.Gln355Arg",
"transcript": "XM_006724693.4",
"protein_id": "XP_006724756.1",
"transcript_support_level": null,
"aa_start": 355,
"aa_end": null,
"aa_length": 1124,
"cds_start": 1064,
"cds_end": null,
"cds_length": 3375,
"cdna_start": 1113,
"cdna_end": null,
"cdna_length": 4074,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG13",
"gene_hgnc_id": 30881,
"hgvs_c": "c.893A>G",
"hgvs_p": "p.Gln298Arg",
"transcript": "XM_047442521.1",
"protein_id": "XP_047298477.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 1104,
"cds_start": 893,
"cds_end": null,
"cds_length": 3315,
"cdna_start": 942,
"cdna_end": null,
"cdna_length": 4014,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG13",
"gene_hgnc_id": 30881,
"hgvs_c": "c.1064A>G",
"hgvs_p": "p.Gln355Arg",
"transcript": "XM_011531030.3",
"protein_id": "XP_011529332.1",
"transcript_support_level": null,
"aa_start": 355,
"aa_end": null,
"aa_length": 1082,
"cds_start": 1064,
"cds_end": null,
"cds_length": 3249,
"cdna_start": 1113,
"cdna_end": null,
"cdna_length": 3948,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG13",
"gene_hgnc_id": 30881,
"hgvs_c": "c.893A>G",
"hgvs_p": "p.Gln298Arg",
"transcript": "XM_047442522.1",
"protein_id": "XP_047298478.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 1080,
"cds_start": 893,
"cds_end": null,
"cds_length": 3243,
"cdna_start": 942,
"cdna_end": null,
"cdna_length": 3942,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG13",
"gene_hgnc_id": 30881,
"hgvs_c": "c.752A>G",
"hgvs_p": "p.Gln251Arg",
"transcript": "XM_006724697.4",
"protein_id": "XP_006724760.2",
"transcript_support_level": null,
"aa_start": 251,
"aa_end": null,
"aa_length": 1057,
"cds_start": 752,
"cds_end": null,
"cds_length": 3174,
"cdna_start": 1009,
"cdna_end": null,
"cdna_length": 4081,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG13",
"gene_hgnc_id": 30881,
"hgvs_c": "c.752A>G",
"hgvs_p": "p.Gln251Arg",
"transcript": "XM_006724698.4",
"protein_id": "XP_006724761.2",
"transcript_support_level": null,
"aa_start": 251,
"aa_end": null,
"aa_length": 1057,
"cds_start": 752,
"cds_end": null,
"cds_length": 3174,
"cdna_start": 1134,
"cdna_end": null,
"cdna_length": 4206,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG13",
"gene_hgnc_id": 30881,
"hgvs_c": "c.752A>G",
"hgvs_p": "p.Gln251Arg",
"transcript": "XM_011531031.2",
"protein_id": "XP_011529333.1",
"transcript_support_level": null,
"aa_start": 251,
"aa_end": null,
"aa_length": 1057,
"cds_start": 752,
"cds_end": null,
"cds_length": 3174,
"cdna_start": 1238,
"cdna_end": null,
"cdna_length": 4310,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG13",
"gene_hgnc_id": 30881,
"hgvs_c": "c.752A>G",
"hgvs_p": "p.Gln251Arg",
"transcript": "XM_011531032.2",
"protein_id": "XP_011529334.1",
"transcript_support_level": null,
"aa_start": 251,
"aa_end": null,
"aa_length": 1057,
"cds_start": 752,
"cds_end": null,
"cds_length": 3174,
"cdna_start": 1049,
"cdna_end": null,
"cdna_length": 4121,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG13",
"gene_hgnc_id": 30881,
"hgvs_c": "c.752A>G",
"hgvs_p": "p.Gln251Arg",
"transcript": "XM_011531033.4",
"protein_id": "XP_011529335.1",
"transcript_support_level": null,
"aa_start": 251,
"aa_end": null,
"aa_length": 1057,
"cds_start": 752,
"cds_end": null,
"cds_length": 3174,
"cdna_start": 1153,
"cdna_end": null,
"cdna_length": 4225,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG13",
"gene_hgnc_id": 30881,
"hgvs_c": "c.1064A>G",
"hgvs_p": "p.Gln355Arg",
"transcript": "XM_017029848.2",
"protein_id": "XP_016885337.1",
"transcript_support_level": null,
"aa_start": 355,
"aa_end": null,
"aa_length": 1050,
"cds_start": 1064,
"cds_end": null,
"cds_length": 3153,
"cdna_start": 1113,
"cdna_end": null,
"cdna_length": 3852,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG13",
"gene_hgnc_id": 30881,
"hgvs_c": "c.1064A>G",
"hgvs_p": "p.Gln355Arg",
"transcript": "XM_047442523.1",
"protein_id": "XP_047298479.1",
"transcript_support_level": null,
"aa_start": 355,
"aa_end": null,
"aa_length": 1045,
"cds_start": 1064,
"cds_end": null,
"cds_length": 3138,
"cdna_start": 1113,
"cdna_end": null,
"cdna_length": 3837,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG13",
"gene_hgnc_id": 30881,
"hgvs_c": "c.752A>G",
"hgvs_p": "p.Gln251Arg",
"transcript": "XM_047442524.1",
"protein_id": "XP_047298480.1",
"transcript_support_level": null,
"aa_start": 251,
"aa_end": null,
"aa_length": 1033,
"cds_start": 752,
"cds_end": null,
"cds_length": 3102,
"cdna_start": 1049,
"cdna_end": null,
"cdna_length": 4049,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG13",
"gene_hgnc_id": 30881,
"hgvs_c": "c.893A>G",
"hgvs_p": "p.Gln298Arg",
"transcript": "XM_047442525.1",
"protein_id": "XP_047298481.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 1001,
"cds_start": 893,
"cds_end": null,
"cds_length": 3006,
"cdna_start": 942,
"cdna_end": null,
"cdna_length": 3705,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG13",
"gene_hgnc_id": 30881,
"hgvs_c": "c.455A>G",
"hgvs_p": "p.Gln152Arg",
"transcript": "XM_011531034.3",
"protein_id": "XP_011529336.1",
"transcript_support_level": null,
"aa_start": 152,
"aa_end": null,
"aa_length": 958,
"cds_start": 455,
"cds_end": null,
"cds_length": 2877,
"cdna_start": 866,
"cdna_end": null,
"cdna_length": 3938,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG13",
"gene_hgnc_id": 30881,
"hgvs_c": "c.1064A>G",
"hgvs_p": "p.Gln355Arg",
"transcript": "XM_017029849.2",
"protein_id": "XP_016885338.1",
"transcript_support_level": null,
"aa_start": 355,
"aa_end": null,
"aa_length": 939,
"cds_start": 1064,
"cds_end": null,
"cds_length": 2820,
"cdna_start": 1113,
"cdna_end": null,
"cdna_length": 2916,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG13",
"gene_hgnc_id": 30881,
"hgvs_c": "c.1064A>G",
"hgvs_p": "p.Gln355Arg",
"transcript": "XM_017029850.3",
"protein_id": "XP_016885339.1",
"transcript_support_level": null,
"aa_start": 355,
"aa_end": null,
"aa_length": 925,
"cds_start": 1064,
"cds_end": null,
"cds_length": 2778,
"cdna_start": 1113,
"cdna_end": null,
"cdna_length": 2842,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG13",
"gene_hgnc_id": 30881,
"hgvs_c": "c.1064A>G",
"hgvs_p": "p.Gln355Arg",
"transcript": "XM_024452449.2",
"protein_id": "XP_024308217.1",
"transcript_support_level": null,
"aa_start": 355,
"aa_end": null,
"aa_length": 915,
"cds_start": 1064,
"cds_end": null,
"cds_length": 2748,
"cdna_start": 1113,
"cdna_end": null,
"cdna_length": 2844,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG13",
"gene_hgnc_id": 30881,
"hgvs_c": "c.260A>G",
"hgvs_p": "p.Gln87Arg",
"transcript": "XM_047442526.1",
"protein_id": "XP_047298482.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 893,
"cds_start": 260,
"cds_end": null,
"cds_length": 2682,
"cdna_start": 498,
"cdna_end": null,
"cdna_length": 3570,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG13",
"gene_hgnc_id": 30881,
"hgvs_c": "c.95A>G",
"hgvs_p": "p.Gln32Arg",
"transcript": "XM_017029852.2",
"protein_id": "XP_016885341.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 838,
"cds_start": 95,
"cds_end": null,
"cds_length": 2517,
"cdna_start": 111,
"cdna_end": null,
"cdna_length": 3183,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG13",
"gene_hgnc_id": 30881,
"hgvs_c": "c.140A>G",
"hgvs_p": "p.Gln47Arg",
"transcript": "XM_047442527.1",
"protein_id": "XP_047298483.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 829,
"cds_start": 140,
"cds_end": null,
"cds_length": 2490,
"cdna_start": 178,
"cdna_end": null,
"cdna_length": 3178,
"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": 9,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG13",
"gene_hgnc_id": 30881,
"hgvs_c": "n.*929A>G",
"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": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG13",
"gene_hgnc_id": 30881,
"hgvs_c": "n.*1033A>G",
"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": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG13",
"gene_hgnc_id": 30881,
"hgvs_c": "n.*974A>G",
"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": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG13",
"gene_hgnc_id": 30881,
"hgvs_c": "n.*828A>G",
"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": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG13",
"gene_hgnc_id": 30881,
"hgvs_c": "n.*127A>G",
"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": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG13",
"gene_hgnc_id": 30881,
"hgvs_c": "n.*1033A>G",
"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": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG13",
"gene_hgnc_id": 30881,
"hgvs_c": "n.179A>G",
"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": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG13",
"gene_hgnc_id": 30881,
"hgvs_c": "n.1067A>G",
"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": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG13",
"gene_hgnc_id": 30881,
"hgvs_c": "c.-188A>G",
"hgvs_p": null,
"transcript": "XM_047442528.1",
"protein_id": "XP_047298484.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 744,
"cds_start": -4,
"cds_end": null,
"cds_length": 2235,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3315,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG13",
"gene_hgnc_id": 30881,
"hgvs_c": "c.-188A>G",
"hgvs_p": null,
"transcript": "XM_047442529.1",
"protein_id": "XP_047298485.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 720,
"cds_start": -4,
"cds_end": null,
"cds_length": 2163,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3412,
"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": 9,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG13",
"gene_hgnc_id": 30881,
"hgvs_c": "n.*929A>G",
"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": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG13",
"gene_hgnc_id": 30881,
"hgvs_c": "n.*1033A>G",
"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": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG13",
"gene_hgnc_id": 30881,
"hgvs_c": "n.*974A>G",
"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": 9,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG13",
"gene_hgnc_id": 30881,
"hgvs_c": "n.*828A>G",
"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": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG13",
"gene_hgnc_id": 30881,
"hgvs_c": "n.*127A>G",
"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": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG13",
"gene_hgnc_id": 30881,
"hgvs_c": "n.*1033A>G",
"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": 22,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ALG13",
"gene_hgnc_id": 30881,
"hgvs_c": "n.*319-3699A>G",
"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
}
],
"gene_symbol": "ALG13",
"gene_hgnc_id": 30881,
"dbsnp": "rs372521943",
"frequency_reference_population": 0.000024922016,
"hom_count_reference_population": 10,
"allele_count_reference_population": 30,
"gnomad_exomes_af": 0.0000265477,
"gnomad_genomes_af": 0.00000897811,
"gnomad_exomes_ac": 29,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.26793789863586426,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": 0.219,
"revel_prediction": "Benign",
"alphamissense_score": 0.3671,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.13,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.097,
"phylop100way_prediction": "Uncertain_significance",
"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": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4,BP6,BS2",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4",
"BP6",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "ENST00000394780.8",
"gene_symbol": "ALG13",
"hgnc_id": 30881,
"effects": [
"missense_variant"
],
"inheritance_mode": "XL",
"hgvs_c": "c.1064A>G",
"hgvs_p": "p.Gln355Arg"
}
],
"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 B:1",
"phenotype_combined": "not provided|Developmental and epileptic encephalopathy, 36",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}