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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: 1-151404946-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=151404946&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 151404946,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000271715.7",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POGZ",
"gene_hgnc_id": 18801,
"hgvs_c": "c.4089T>G",
"hgvs_p": "p.His1363Gln",
"transcript": "NM_015100.4",
"protein_id": "NP_055915.2",
"transcript_support_level": null,
"aa_start": 1363,
"aa_end": null,
"aa_length": 1410,
"cds_start": 4089,
"cds_end": null,
"cds_length": 4233,
"cdna_start": 4433,
"cdna_end": null,
"cdna_length": 6655,
"mane_select": "ENST00000271715.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POGZ",
"gene_hgnc_id": 18801,
"hgvs_c": "c.4089T>G",
"hgvs_p": "p.His1363Gln",
"transcript": "ENST00000271715.7",
"protein_id": "ENSP00000271715.2",
"transcript_support_level": 1,
"aa_start": 1363,
"aa_end": null,
"aa_length": 1410,
"cds_start": 4089,
"cds_end": null,
"cds_length": 4233,
"cdna_start": 4433,
"cdna_end": null,
"cdna_length": 6655,
"mane_select": "NM_015100.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POGZ",
"gene_hgnc_id": 18801,
"hgvs_c": "c.3930T>G",
"hgvs_p": "p.His1310Gln",
"transcript": "ENST00000392723.6",
"protein_id": "ENSP00000376484.1",
"transcript_support_level": 1,
"aa_start": 1310,
"aa_end": null,
"aa_length": 1357,
"cds_start": 3930,
"cds_end": null,
"cds_length": 4074,
"cdna_start": 3959,
"cdna_end": null,
"cdna_length": 6181,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POGZ",
"gene_hgnc_id": 18801,
"hgvs_c": "c.3804T>G",
"hgvs_p": "p.His1268Gln",
"transcript": "ENST00000368863.6",
"protein_id": "ENSP00000357856.2",
"transcript_support_level": 1,
"aa_start": 1268,
"aa_end": null,
"aa_length": 1315,
"cds_start": 3804,
"cds_end": null,
"cds_length": 3948,
"cdna_start": 3833,
"cdna_end": null,
"cdna_length": 6054,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POGZ",
"gene_hgnc_id": 18801,
"hgvs_c": "c.4137T>G",
"hgvs_p": "p.His1379Gln",
"transcript": "ENST00000710270.1",
"protein_id": "ENSP00000518163.1",
"transcript_support_level": null,
"aa_start": 1379,
"aa_end": null,
"aa_length": 1426,
"cds_start": 4137,
"cds_end": null,
"cds_length": 4281,
"cdna_start": 4433,
"cdna_end": null,
"cdna_length": 6655,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POGZ",
"gene_hgnc_id": 18801,
"hgvs_c": "c.4110T>G",
"hgvs_p": "p.His1370Gln",
"transcript": "NM_001410860.1",
"protein_id": "NP_001397789.1",
"transcript_support_level": null,
"aa_start": 1370,
"aa_end": null,
"aa_length": 1417,
"cds_start": 4110,
"cds_end": null,
"cds_length": 4254,
"cdna_start": 4230,
"cdna_end": null,
"cdna_length": 6452,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POGZ",
"gene_hgnc_id": 18801,
"hgvs_c": "c.4110T>G",
"hgvs_p": "p.His1370Gln",
"transcript": "ENST00000703168.1",
"protein_id": "ENSP00000515214.1",
"transcript_support_level": null,
"aa_start": 1370,
"aa_end": null,
"aa_length": 1417,
"cds_start": 4110,
"cds_end": null,
"cds_length": 4254,
"cdna_start": 4206,
"cdna_end": null,
"cdna_length": 4350,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POGZ",
"gene_hgnc_id": 18801,
"hgvs_c": "c.4089T>G",
"hgvs_p": "p.His1363Gln",
"transcript": "ENST00000439756.2",
"protein_id": "ENSP00000390156.2",
"transcript_support_level": 3,
"aa_start": 1363,
"aa_end": null,
"aa_length": 1410,
"cds_start": 4089,
"cds_end": null,
"cds_length": 4233,
"cdna_start": 5668,
"cdna_end": null,
"cdna_length": 5812,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POGZ",
"gene_hgnc_id": 18801,
"hgvs_c": "c.4062T>G",
"hgvs_p": "p.His1354Gln",
"transcript": "NM_001194937.2",
"protein_id": "NP_001181866.1",
"transcript_support_level": null,
"aa_start": 1354,
"aa_end": null,
"aa_length": 1401,
"cds_start": 4062,
"cds_end": null,
"cds_length": 4206,
"cdna_start": 4406,
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"cdna_length": 6628,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
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"gene_symbol": "POGZ",
"gene_hgnc_id": 18801,
"hgvs_c": "c.4062T>G",
"hgvs_p": "p.His1354Gln",
"transcript": "ENST00000409503.5",
"protein_id": "ENSP00000386836.1",
"transcript_support_level": 2,
"aa_start": 1354,
"aa_end": null,
"aa_length": 1401,
"cds_start": 4062,
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"cds_length": 4206,
"cdna_start": 4091,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
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"gene_symbol": "POGZ",
"gene_hgnc_id": 18801,
"hgvs_c": "c.3957T>G",
"hgvs_p": "p.His1319Gln",
"transcript": "ENST00000491586.5",
"protein_id": "ENSP00000418408.1",
"transcript_support_level": 5,
"aa_start": 1319,
"aa_end": null,
"aa_length": 1366,
"cds_start": 3957,
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"cdna_start": 3986,
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},
{
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],
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"intron_rank": null,
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"gene_symbol": "POGZ",
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"hgvs_c": "c.3930T>G",
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"transcript": "NM_207171.2",
"protein_id": "NP_997054.1",
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"aa_start": 1310,
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"cds_start": 3930,
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": 18,
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"exon_count": 18,
"intron_rank": null,
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"gene_symbol": "POGZ",
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"hgvs_c": "c.3903T>G",
"hgvs_p": "p.His1301Gln",
"transcript": "NM_001194938.2",
"protein_id": "NP_001181867.1",
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},
{
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],
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"intron_rank": null,
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"gene_symbol": "POGZ",
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"transcript": "ENST00000531094.5",
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},
{
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"strand": false,
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],
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"exon_count": 17,
"intron_rank": null,
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"gene_symbol": "POGZ",
"gene_hgnc_id": 18801,
"hgvs_c": "c.3804T>G",
"hgvs_p": "p.His1268Gln",
"transcript": "NM_145796.4",
"protein_id": "NP_665739.3",
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},
{
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],
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"intron_rank": null,
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"gene_symbol": "POGZ",
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"hgvs_c": "c.4089T>G",
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"transcript": "XM_005245000.5",
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},
{
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"strand": false,
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],
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"exon_rank_end": null,
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"intron_rank": null,
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"gene_symbol": "POGZ",
"gene_hgnc_id": 18801,
"hgvs_c": "c.4089T>G",
"hgvs_p": "p.His1363Gln",
"transcript": "XM_047450064.1",
"protein_id": "XP_047306020.1",
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},
{
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"consequences": [
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],
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"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
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"gene_symbol": "POGZ",
"gene_hgnc_id": 18801,
"hgvs_c": "c.4083T>G",
"hgvs_p": "p.His1361Gln",
"transcript": "XM_047450065.1",
"protein_id": "XP_047306021.1",
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},
{
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],
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"gene_symbol": "POGZ",
"gene_hgnc_id": 18801,
"hgvs_c": "c.4062T>G",
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"transcript": "XM_017000746.2",
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},
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],
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"gene_symbol": "POGZ",
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},
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],
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"gene_symbol": "POGZ",
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"hgvs_c": "c.3930T>G",
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"protein_id": "XP_005245062.1",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 18,
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"intron_rank": null,
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"gene_symbol": "POGZ",
"gene_hgnc_id": 18801,
"hgvs_c": "c.3924T>G",
"hgvs_p": "p.His1308Gln",
"transcript": "XM_047450068.1",
"protein_id": "XP_047306024.1",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": 18,
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"intron_rank": null,
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"gene_symbol": "POGZ",
"gene_hgnc_id": 18801,
"hgvs_c": "c.3903T>G",
"hgvs_p": "p.His1301Gln",
"transcript": "XM_047450069.1",
"protein_id": "XP_047306025.1",
"transcript_support_level": null,
"aa_start": 1301,
"aa_end": null,
"aa_length": 1348,
"cds_start": 3903,
"cds_end": null,
"cds_length": 4047,
"cdna_start": 4780,
"cdna_end": null,
"cdna_length": 7002,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POGZ",
"gene_hgnc_id": 18801,
"hgvs_c": "c.2889T>G",
"hgvs_p": "p.His963Gln",
"transcript": "XM_047450070.1",
"protein_id": "XP_047306026.1",
"transcript_support_level": null,
"aa_start": 963,
"aa_end": null,
"aa_length": 1010,
"cds_start": 2889,
"cds_end": null,
"cds_length": 3033,
"cdna_start": 3008,
"cdna_end": null,
"cdna_length": 5230,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POGZ",
"gene_hgnc_id": 18801,
"hgvs_c": "n.4237T>G",
"hgvs_p": null,
"transcript": "ENST00000358476.7",
"protein_id": null,
"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": 6459,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "POGZ",
"gene_hgnc_id": 18801,
"dbsnp": "rs142860188",
"frequency_reference_population": 0.0012780799,
"hom_count_reference_population": 6,
"allele_count_reference_population": 2063,
"gnomad_exomes_af": 0.00129491,
"gnomad_genomes_af": 0.00111653,
"gnomad_exomes_ac": 1893,
"gnomad_genomes_ac": 170,
"gnomad_exomes_homalt": 5,
"gnomad_genomes_homalt": 1,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.00425034761428833,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.116,
"revel_prediction": "Benign",
"alphamissense_score": 0.0672,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.73,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.812,
"phylop100way_prediction": "Benign",
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS1,BS2",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000271715.7",
"gene_symbol": "POGZ",
"hgnc_id": 18801,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.4089T>G",
"hgvs_p": "p.His1363Gln"
}
],
"clinvar_disease": "Autism spectrum disorder,Inborn genetic diseases,Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome,POGZ-related disorder,not provided",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:5 B:1",
"phenotype_combined": "not provided|POGZ-related disorder|Autism spectrum disorder|Inborn genetic diseases|Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}