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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: 1-151408150-CAGAG-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=151408150&ref=CAGAG&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 151408150,
"ref": "CAGAG",
"alt": "C",
"effect": "frameshift_variant",
"transcript": "NM_015100.4",
"consequences": [
{
"aa_ref": "SL",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POGZ",
"gene_hgnc_id": 18801,
"hgvs_c": "c.2321_2324delCTCT",
"hgvs_p": "p.Ser774fs",
"transcript": "NM_015100.4",
"protein_id": "NP_055915.2",
"transcript_support_level": null,
"aa_start": 774,
"aa_end": null,
"aa_length": 1410,
"cds_start": 2321,
"cds_end": null,
"cds_length": 4233,
"cdna_start": 2668,
"cdna_end": null,
"cdna_length": 6655,
"mane_select": "ENST00000271715.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "SL",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POGZ",
"gene_hgnc_id": 18801,
"hgvs_c": "c.2321_2324delCTCT",
"hgvs_p": "p.Ser774fs",
"transcript": "ENST00000271715.7",
"protein_id": "ENSP00000271715.2",
"transcript_support_level": 1,
"aa_start": 774,
"aa_end": null,
"aa_length": 1410,
"cds_start": 2321,
"cds_end": null,
"cds_length": 4233,
"cdna_start": 2668,
"cdna_end": null,
"cdna_length": 6655,
"mane_select": "NM_015100.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "SL",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POGZ",
"gene_hgnc_id": 18801,
"hgvs_c": "c.2162_2165delCTCT",
"hgvs_p": "p.Ser721fs",
"transcript": "ENST00000392723.6",
"protein_id": "ENSP00000376484.1",
"transcript_support_level": 1,
"aa_start": 721,
"aa_end": null,
"aa_length": 1357,
"cds_start": 2162,
"cds_end": null,
"cds_length": 4074,
"cdna_start": 2194,
"cdna_end": null,
"cdna_length": 6181,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "SL",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POGZ",
"gene_hgnc_id": 18801,
"hgvs_c": "c.2036_2039delCTCT",
"hgvs_p": "p.Ser679fs",
"transcript": "ENST00000368863.6",
"protein_id": "ENSP00000357856.2",
"transcript_support_level": 1,
"aa_start": 679,
"aa_end": null,
"aa_length": 1315,
"cds_start": 2036,
"cds_end": null,
"cds_length": 3948,
"cdna_start": 2068,
"cdna_end": null,
"cdna_length": 6054,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "SL",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POGZ",
"gene_hgnc_id": 18801,
"hgvs_c": "c.2369_2372delCTCT",
"hgvs_p": "p.Ser790fs",
"transcript": "ENST00000710270.1",
"protein_id": "ENSP00000518163.1",
"transcript_support_level": null,
"aa_start": 790,
"aa_end": null,
"aa_length": 1426,
"cds_start": 2369,
"cds_end": null,
"cds_length": 4281,
"cdna_start": 2668,
"cdna_end": null,
"cdna_length": 6655,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "SL",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POGZ",
"gene_hgnc_id": 18801,
"hgvs_c": "c.2342_2345delCTCT",
"hgvs_p": "p.Ser781fs",
"transcript": "NM_001410860.1",
"protein_id": "NP_001397789.1",
"transcript_support_level": null,
"aa_start": 781,
"aa_end": null,
"aa_length": 1417,
"cds_start": 2342,
"cds_end": null,
"cds_length": 4254,
"cdna_start": 2465,
"cdna_end": null,
"cdna_length": 6452,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "SL",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POGZ",
"gene_hgnc_id": 18801,
"hgvs_c": "c.2342_2345delCTCT",
"hgvs_p": "p.Ser781fs",
"transcript": "ENST00000703168.1",
"protein_id": "ENSP00000515214.1",
"transcript_support_level": null,
"aa_start": 781,
"aa_end": null,
"aa_length": 1417,
"cds_start": 2342,
"cds_end": null,
"cds_length": 4254,
"cdna_start": 2441,
"cdna_end": null,
"cdna_length": 4350,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "SL",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POGZ",
"gene_hgnc_id": 18801,
"hgvs_c": "c.2321_2324delCTCT",
"hgvs_p": "p.Ser774fs",
"transcript": "ENST00000439756.2",
"protein_id": "ENSP00000390156.2",
"transcript_support_level": 3,
"aa_start": 774,
"aa_end": null,
"aa_length": 1410,
"cds_start": 2321,
"cds_end": null,
"cds_length": 4233,
"cdna_start": 3903,
"cdna_end": null,
"cdna_length": 5812,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "SL",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POGZ",
"gene_hgnc_id": 18801,
"hgvs_c": "c.2294_2297delCTCT",
"hgvs_p": "p.Ser765fs",
"transcript": "NM_001194937.2",
"protein_id": "NP_001181866.1",
"transcript_support_level": null,
"aa_start": 765,
"aa_end": null,
"aa_length": 1401,
"cds_start": 2294,
"cds_end": null,
"cds_length": 4206,
"cdna_start": 2641,
"cdna_end": null,
"cdna_length": 6628,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "SL",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POGZ",
"gene_hgnc_id": 18801,
"hgvs_c": "c.2294_2297delCTCT",
"hgvs_p": "p.Ser765fs",
"transcript": "ENST00000409503.5",
"protein_id": "ENSP00000386836.1",
"transcript_support_level": 2,
"aa_start": 765,
"aa_end": null,
"aa_length": 1401,
"cds_start": 2294,
"cds_end": null,
"cds_length": 4206,
"cdna_start": 2326,
"cdna_end": null,
"cdna_length": 4813,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "SL",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POGZ",
"gene_hgnc_id": 18801,
"hgvs_c": "c.2189_2192delCTCT",
"hgvs_p": "p.Ser730fs",
"transcript": "ENST00000491586.5",
"protein_id": "ENSP00000418408.1",
"transcript_support_level": 5,
"aa_start": 730,
"aa_end": null,
"aa_length": 1366,
"cds_start": 2189,
"cds_end": null,
"cds_length": 4101,
"cdna_start": 2221,
"cdna_end": null,
"cdna_length": 4130,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POGZ",
"gene_hgnc_id": 18801,
"hgvs_c": "c.2162_2165delCTCT",
"hgvs_p": "p.Ser721fs",
"transcript": "NM_207171.2",
"protein_id": "NP_997054.1",
"transcript_support_level": null,
"aa_start": 721,
"aa_end": null,
"aa_length": 1357,
"cds_start": 2162,
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"cds_length": 4074,
"cdna_start": 2166,
"cdna_end": null,
"cdna_length": 6153,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "SL",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POGZ",
"gene_hgnc_id": 18801,
"hgvs_c": "c.2135_2138delCTCT",
"hgvs_p": "p.Ser712fs",
"transcript": "NM_001194938.2",
"protein_id": "NP_001181867.1",
"transcript_support_level": null,
"aa_start": 712,
"aa_end": null,
"aa_length": 1348,
"cds_start": 2135,
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"cds_length": 4047,
"cdna_start": 2482,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POGZ",
"gene_hgnc_id": 18801,
"hgvs_c": "c.2135_2138delCTCT",
"hgvs_p": "p.Ser712fs",
"transcript": "ENST00000531094.5",
"protein_id": "ENSP00000431259.1",
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"cds_start": 2135,
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"cdna_start": 2203,
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POGZ",
"gene_hgnc_id": 18801,
"hgvs_c": "c.2036_2039delCTCT",
"hgvs_p": "p.Ser679fs",
"transcript": "NM_145796.4",
"protein_id": "NP_665739.3",
"transcript_support_level": null,
"aa_start": 679,
"aa_end": null,
"aa_length": 1315,
"cds_start": 2036,
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"cdna_start": 2383,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POGZ",
"gene_hgnc_id": 18801,
"hgvs_c": "c.521_524delCTCT",
"hgvs_p": "p.Ser174fs",
"transcript": "ENST00000529669.1",
"protein_id": "ENSP00000432295.1",
"transcript_support_level": 5,
"aa_start": 174,
"aa_end": null,
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"cds_start": 521,
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"cdna_start": 524,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POGZ",
"gene_hgnc_id": 18801,
"hgvs_c": "c.2321_2324delCTCT",
"hgvs_p": "p.Ser774fs",
"transcript": "XM_005245000.5",
"protein_id": "XP_005245057.1",
"transcript_support_level": null,
"aa_start": 774,
"aa_end": null,
"aa_length": 1410,
"cds_start": 2321,
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"cds_length": 4233,
"cdna_start": 3201,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POGZ",
"gene_hgnc_id": 18801,
"hgvs_c": "c.2321_2324delCTCT",
"hgvs_p": "p.Ser774fs",
"transcript": "XM_047450064.1",
"protein_id": "XP_047306020.1",
"transcript_support_level": null,
"aa_start": 774,
"aa_end": null,
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"cds_start": 2321,
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"mane_select": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POGZ",
"gene_hgnc_id": 18801,
"hgvs_c": "c.2315_2318delCTCT",
"hgvs_p": "p.Ser772fs",
"transcript": "XM_047450065.1",
"protein_id": "XP_047306021.1",
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},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POGZ",
"gene_hgnc_id": 18801,
"hgvs_c": "c.2294_2297delCTCT",
"hgvs_p": "p.Ser765fs",
"transcript": "XM_017000746.2",
"protein_id": "XP_016856235.1",
"transcript_support_level": null,
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POGZ",
"gene_hgnc_id": 18801,
"hgvs_c": "c.2183_2186delCTCT",
"hgvs_p": "p.Ser728fs",
"transcript": "XM_017000748.2",
"protein_id": "XP_016856237.2",
"transcript_support_level": null,
"aa_start": 728,
"aa_end": null,
"aa_length": 1364,
"cds_start": 2183,
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"cds_length": 4095,
"cdna_start": 2306,
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"cdna_length": 6293,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "SL",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POGZ",
"gene_hgnc_id": 18801,
"hgvs_c": "c.2162_2165delCTCT",
"hgvs_p": "p.Ser721fs",
"transcript": "XM_005245005.3",
"protein_id": "XP_005245062.1",
"transcript_support_level": null,
"aa_start": 721,
"aa_end": null,
"aa_length": 1357,
"cds_start": 2162,
"cds_end": null,
"cds_length": 4074,
"cdna_start": 2509,
"cdna_end": null,
"cdna_length": 6496,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
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}
],
"gene_symbol": "POGZ",
"gene_hgnc_id": 18801,
"dbsnp": "rs864321671",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
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"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
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"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 7.042,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"apogee2_score": null,
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"mitotip_score": null,
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"acmg_score": 18,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 18,
"benign_score": 0,
"pathogenic_score": 18,
"criteria": [
"PVS1",
"PM2",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "NM_015100.4",
"gene_symbol": "POGZ",
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"effects": [
"frameshift_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2321_2324delCTCT",
"hgvs_p": "p.Ser774fs"
}
],
"clinvar_disease": "Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome,Smith-Magenis Syndrome-like,not provided",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:3",
"phenotype_combined": "Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome|Smith-Magenis Syndrome-like|not provided",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}