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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: 11-78106895-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=78106895&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 78106895,
"ref": "G",
"alt": "A",
"effect": "stop_gained",
"transcript": "NM_001425224.1",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG8",
"gene_hgnc_id": 23161,
"hgvs_c": "c.1090C>T",
"hgvs_p": "p.Arg364*",
"transcript": "NM_024079.5",
"protein_id": "NP_076984.2",
"transcript_support_level": null,
"aa_start": 364,
"aa_end": null,
"aa_length": 526,
"cds_start": 1090,
"cds_end": null,
"cds_length": 1581,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000299626.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_024079.5"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG8",
"gene_hgnc_id": 23161,
"hgvs_c": "c.1090C>T",
"hgvs_p": "p.Arg364*",
"transcript": "ENST00000299626.10",
"protein_id": "ENSP00000299626.5",
"transcript_support_level": 1,
"aa_start": 364,
"aa_end": null,
"aa_length": 526,
"cds_start": 1090,
"cds_end": null,
"cds_length": 1581,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_024079.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000299626.10"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG8",
"gene_hgnc_id": 23161,
"hgvs_c": "c.1090C>T",
"hgvs_p": "p.Arg364*",
"transcript": "ENST00000679559.1",
"protein_id": "ENSP00000505433.1",
"transcript_support_level": null,
"aa_start": 364,
"aa_end": null,
"aa_length": 560,
"cds_start": 1090,
"cds_end": null,
"cds_length": 1683,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000679559.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG8",
"gene_hgnc_id": 23161,
"hgvs_c": "c.1183C>T",
"hgvs_p": "p.Arg395*",
"transcript": "NM_001425224.1",
"protein_id": "NP_001412153.1",
"transcript_support_level": null,
"aa_start": 395,
"aa_end": null,
"aa_length": 557,
"cds_start": 1183,
"cds_end": null,
"cds_length": 1674,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001425224.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG8",
"gene_hgnc_id": 23161,
"hgvs_c": "c.1138C>T",
"hgvs_p": "p.Arg380*",
"transcript": "NM_001425225.1",
"protein_id": "NP_001412154.1",
"transcript_support_level": null,
"aa_start": 380,
"aa_end": null,
"aa_length": 542,
"cds_start": 1138,
"cds_end": null,
"cds_length": 1629,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001425225.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG8",
"gene_hgnc_id": 23161,
"hgvs_c": "c.1138C>T",
"hgvs_p": "p.Arg380*",
"transcript": "ENST00000532440.6",
"protein_id": "ENSP00000433429.2",
"transcript_support_level": 3,
"aa_start": 380,
"aa_end": null,
"aa_length": 542,
"cds_start": 1138,
"cds_end": null,
"cds_length": 1629,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000532440.6"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG8",
"gene_hgnc_id": 23161,
"hgvs_c": "c.1090C>T",
"hgvs_p": "p.Arg364*",
"transcript": "NM_001425222.1",
"protein_id": "NP_001412151.1",
"transcript_support_level": null,
"aa_start": 364,
"aa_end": null,
"aa_length": 534,
"cds_start": 1090,
"cds_end": null,
"cds_length": 1605,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001425222.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG8",
"gene_hgnc_id": 23161,
"hgvs_c": "c.1111C>T",
"hgvs_p": "p.Arg371*",
"transcript": "ENST00000853774.1",
"protein_id": "ENSP00000523833.1",
"transcript_support_level": null,
"aa_start": 371,
"aa_end": null,
"aa_length": 533,
"cds_start": 1111,
"cds_end": null,
"cds_length": 1602,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853774.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG8",
"gene_hgnc_id": 23161,
"hgvs_c": "c.1093C>T",
"hgvs_p": "p.Arg365*",
"transcript": "NM_001425219.1",
"protein_id": "NP_001412148.1",
"transcript_support_level": null,
"aa_start": 365,
"aa_end": null,
"aa_length": 527,
"cds_start": 1093,
"cds_end": null,
"cds_length": 1584,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001425219.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG8",
"gene_hgnc_id": 23161,
"hgvs_c": "c.1093C>T",
"hgvs_p": "p.Arg365*",
"transcript": "ENST00000680256.1",
"protein_id": "ENSP00000505074.1",
"transcript_support_level": null,
"aa_start": 365,
"aa_end": null,
"aa_length": 527,
"cds_start": 1093,
"cds_end": null,
"cds_length": 1584,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000680256.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG8",
"gene_hgnc_id": 23161,
"hgvs_c": "c.1084C>T",
"hgvs_p": "p.Arg362*",
"transcript": "NM_001425223.1",
"protein_id": "NP_001412152.1",
"transcript_support_level": null,
"aa_start": 362,
"aa_end": null,
"aa_length": 524,
"cds_start": 1084,
"cds_end": null,
"cds_length": 1575,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001425223.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG8",
"gene_hgnc_id": 23161,
"hgvs_c": "c.1075C>T",
"hgvs_p": "p.Arg359*",
"transcript": "NM_001425220.1",
"protein_id": "NP_001412149.1",
"transcript_support_level": null,
"aa_start": 359,
"aa_end": null,
"aa_length": 521,
"cds_start": 1075,
"cds_end": null,
"cds_length": 1566,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001425220.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG8",
"gene_hgnc_id": 23161,
"hgvs_c": "c.1075C>T",
"hgvs_p": "p.Arg359*",
"transcript": "ENST00000853769.1",
"protein_id": "ENSP00000523828.1",
"transcript_support_level": null,
"aa_start": 359,
"aa_end": null,
"aa_length": 521,
"cds_start": 1075,
"cds_end": null,
"cds_length": 1566,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853769.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG8",
"gene_hgnc_id": 23161,
"hgvs_c": "c.1015C>T",
"hgvs_p": "p.Arg339*",
"transcript": "NM_001425221.1",
"protein_id": "NP_001412150.1",
"transcript_support_level": null,
"aa_start": 339,
"aa_end": null,
"aa_length": 501,
"cds_start": 1015,
"cds_end": null,
"cds_length": 1506,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001425221.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG8",
"gene_hgnc_id": 23161,
"hgvs_c": "c.1015C>T",
"hgvs_p": "p.Arg339*",
"transcript": "ENST00000853773.1",
"protein_id": "ENSP00000523832.1",
"transcript_support_level": null,
"aa_start": 339,
"aa_end": null,
"aa_length": 501,
"cds_start": 1015,
"cds_end": null,
"cds_length": 1506,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853773.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG8",
"gene_hgnc_id": 23161,
"hgvs_c": "c.994C>T",
"hgvs_p": "p.Arg332*",
"transcript": "ENST00000526849.6",
"protein_id": "ENSP00000434388.2",
"transcript_support_level": 2,
"aa_start": 332,
"aa_end": null,
"aa_length": 494,
"cds_start": 994,
"cds_end": null,
"cds_length": 1485,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000526849.6"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG8",
"gene_hgnc_id": 23161,
"hgvs_c": "c.1090C>T",
"hgvs_p": "p.Arg364*",
"transcript": "ENST00000680398.1",
"protein_id": "ENSP00000506189.1",
"transcript_support_level": null,
"aa_start": 364,
"aa_end": null,
"aa_length": 494,
"cds_start": 1090,
"cds_end": null,
"cds_length": 1485,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000680398.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG8",
"gene_hgnc_id": 23161,
"hgvs_c": "c.946C>T",
"hgvs_p": "p.Arg316*",
"transcript": "ENST00000853770.1",
"protein_id": "ENSP00000523829.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 478,
"cds_start": 946,
"cds_end": null,
"cds_length": 1437,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853770.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG8",
"gene_hgnc_id": 23161,
"hgvs_c": "c.1090C>T",
"hgvs_p": "p.Arg364*",
"transcript": "ENST00000965607.1",
"protein_id": "ENSP00000635666.1",
"transcript_support_level": null,
"aa_start": 364,
"aa_end": null,
"aa_length": 477,
"cds_start": 1090,
"cds_end": null,
"cds_length": 1434,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965607.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG8",
"gene_hgnc_id": 23161,
"hgvs_c": "c.940C>T",
"hgvs_p": "p.Arg314*",
"transcript": "ENST00000853772.1",
"protein_id": "ENSP00000523831.1",
"transcript_support_level": null,
"aa_start": 314,
"aa_end": null,
"aa_length": 476,
"cds_start": 940,
"cds_end": null,
"cds_length": 1431,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853772.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG8",
"gene_hgnc_id": 23161,
"hgvs_c": "c.937C>T",
"hgvs_p": "p.Arg313*",
"transcript": "NM_001425226.1",
"protein_id": "NP_001412155.1",
"transcript_support_level": null,
"aa_start": 313,
"aa_end": null,
"aa_length": 475,
"cds_start": 937,
"cds_end": null,
"cds_length": 1428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001425226.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG8",
"gene_hgnc_id": 23161,
"hgvs_c": "c.1090C>T",
"hgvs_p": "p.Arg364*",
"transcript": "NM_001425227.1",
"protein_id": "NP_001412156.1",
"transcript_support_level": null,
"aa_start": 364,
"aa_end": null,
"aa_length": 469,
"cds_start": 1090,
"cds_end": null,
"cds_length": 1410,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001425227.1"
},
{
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"protein_id": "ENSP00000505696.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000679697.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "ALG8",
"gene_hgnc_id": 23161,
"hgvs_c": "n.1077-2442C>T",
"hgvs_p": null,
"transcript": "NR_189148.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_189148.1"
}
],
"gene_symbol": "ALG8",
"gene_hgnc_id": 23161,
"dbsnp": "rs376161880",
"frequency_reference_population": 0.000082400904,
"hom_count_reference_population": 0,
"allele_count_reference_population": 133,
"gnomad_exomes_af": 0.0000814046,
"gnomad_genomes_af": 0.0000919685,
"gnomad_exomes_ac": 119,
"gnomad_genomes_ac": 14,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6299999952316284,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.63,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 6.756,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 16,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 16,
"benign_score": 0,
"pathogenic_score": 16,
"criteria": [
"PVS1",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "NM_001425224.1",
"gene_symbol": "ALG8",
"hgnc_id": 23161,
"effects": [
"stop_gained"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.1183C>T",
"hgvs_p": "p.Arg395*"
}
],
"clinvar_disease": "ALG8 congenital disorder of glycosylation,ALG8-related disorder,Autosomal dominant polycystic liver disease,Familial cystic renal disease,Inborn genetic diseases,Polycystic liver disease 3 with or without kidney cysts,See cases,not provided",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:13 LP:1",
"phenotype_combined": "not provided|Polycystic liver disease 3 with or without kidney cysts|Polycystic liver disease 3 with or without kidney cysts;ALG8 congenital disorder of glycosylation|ALG8 congenital disorder of glycosylation|See cases|Inborn genetic diseases|Autosomal dominant polycystic liver disease|ALG8-related disorder|Familial cystic renal disease",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}