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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: 1-151406324-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=151406324&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 151406324,
"ref": "A",
"alt": "T",
"effect": "stop_gained",
"transcript": "ENST00000271715.7",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"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.2711T>A",
"hgvs_p": "p.Leu904*",
"transcript": "NM_015100.4",
"protein_id": "NP_055915.2",
"transcript_support_level": null,
"aa_start": 904,
"aa_end": null,
"aa_length": 1410,
"cds_start": 2711,
"cds_end": null,
"cds_length": 4233,
"cdna_start": 3055,
"cdna_end": null,
"cdna_length": 6655,
"mane_select": "ENST00000271715.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"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.2711T>A",
"hgvs_p": "p.Leu904*",
"transcript": "ENST00000271715.7",
"protein_id": "ENSP00000271715.2",
"transcript_support_level": 1,
"aa_start": 904,
"aa_end": null,
"aa_length": 1410,
"cds_start": 2711,
"cds_end": null,
"cds_length": 4233,
"cdna_start": 3055,
"cdna_end": null,
"cdna_length": 6655,
"mane_select": "NM_015100.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"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.2552T>A",
"hgvs_p": "p.Leu851*",
"transcript": "ENST00000392723.6",
"protein_id": "ENSP00000376484.1",
"transcript_support_level": 1,
"aa_start": 851,
"aa_end": null,
"aa_length": 1357,
"cds_start": 2552,
"cds_end": null,
"cds_length": 4074,
"cdna_start": 2581,
"cdna_end": null,
"cdna_length": 6181,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"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.2426T>A",
"hgvs_p": "p.Leu809*",
"transcript": "ENST00000368863.6",
"protein_id": "ENSP00000357856.2",
"transcript_support_level": 1,
"aa_start": 809,
"aa_end": null,
"aa_length": 1315,
"cds_start": 2426,
"cds_end": null,
"cds_length": 3948,
"cdna_start": 2455,
"cdna_end": null,
"cdna_length": 6054,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"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.2759T>A",
"hgvs_p": "p.Leu920*",
"transcript": "ENST00000710270.1",
"protein_id": "ENSP00000518163.1",
"transcript_support_level": null,
"aa_start": 920,
"aa_end": null,
"aa_length": 1426,
"cds_start": 2759,
"cds_end": null,
"cds_length": 4281,
"cdna_start": 3055,
"cdna_end": null,
"cdna_length": 6655,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"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.2732T>A",
"hgvs_p": "p.Leu911*",
"transcript": "NM_001410860.1",
"protein_id": "NP_001397789.1",
"transcript_support_level": null,
"aa_start": 911,
"aa_end": null,
"aa_length": 1417,
"cds_start": 2732,
"cds_end": null,
"cds_length": 4254,
"cdna_start": 2852,
"cdna_end": null,
"cdna_length": 6452,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"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.2732T>A",
"hgvs_p": "p.Leu911*",
"transcript": "ENST00000703168.1",
"protein_id": "ENSP00000515214.1",
"transcript_support_level": null,
"aa_start": 911,
"aa_end": null,
"aa_length": 1417,
"cds_start": 2732,
"cds_end": null,
"cds_length": 4254,
"cdna_start": 2828,
"cdna_end": null,
"cdna_length": 4350,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"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.2711T>A",
"hgvs_p": "p.Leu904*",
"transcript": "ENST00000439756.2",
"protein_id": "ENSP00000390156.2",
"transcript_support_level": 3,
"aa_start": 904,
"aa_end": null,
"aa_length": 1410,
"cds_start": 2711,
"cds_end": null,
"cds_length": 4233,
"cdna_start": 4290,
"cdna_end": null,
"cdna_length": 5812,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"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.2684T>A",
"hgvs_p": "p.Leu895*",
"transcript": "NM_001194937.2",
"protein_id": "NP_001181866.1",
"transcript_support_level": null,
"aa_start": 895,
"aa_end": null,
"aa_length": 1401,
"cds_start": 2684,
"cds_end": null,
"cds_length": 4206,
"cdna_start": 3028,
"cdna_end": null,
"cdna_length": 6628,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"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.2684T>A",
"hgvs_p": "p.Leu895*",
"transcript": "ENST00000409503.5",
"protein_id": "ENSP00000386836.1",
"transcript_support_level": 2,
"aa_start": 895,
"aa_end": null,
"aa_length": 1401,
"cds_start": 2684,
"cds_end": null,
"cds_length": 4206,
"cdna_start": 2713,
"cdna_end": null,
"cdna_length": 4813,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"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.2579T>A",
"hgvs_p": "p.Leu860*",
"transcript": "ENST00000491586.5",
"protein_id": "ENSP00000418408.1",
"transcript_support_level": 5,
"aa_start": 860,
"aa_end": null,
"aa_length": 1366,
"cds_start": 2579,
"cds_end": null,
"cds_length": 4101,
"cdna_start": 2608,
"cdna_end": null,
"cdna_length": 4130,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"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.2552T>A",
"hgvs_p": "p.Leu851*",
"transcript": "NM_207171.2",
"protein_id": "NP_997054.1",
"transcript_support_level": null,
"aa_start": 851,
"aa_end": null,
"aa_length": 1357,
"cds_start": 2552,
"cds_end": null,
"cds_length": 4074,
"cdna_start": 2553,
"cdna_end": null,
"cdna_length": 6153,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"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.2525T>A",
"hgvs_p": "p.Leu842*",
"transcript": "NM_001194938.2",
"protein_id": "NP_001181867.1",
"transcript_support_level": null,
"aa_start": 842,
"aa_end": null,
"aa_length": 1348,
"cds_start": 2525,
"cds_end": null,
"cds_length": 4047,
"cdna_start": 2869,
"cdna_end": null,
"cdna_length": 6469,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"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.2525T>A",
"hgvs_p": "p.Leu842*",
"transcript": "ENST00000531094.5",
"protein_id": "ENSP00000431259.1",
"transcript_support_level": 2,
"aa_start": 842,
"aa_end": null,
"aa_length": 1348,
"cds_start": 2525,
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"cdna_start": 2590,
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"cdna_length": 4415,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "L",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"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.2426T>A",
"hgvs_p": "p.Leu809*",
"transcript": "NM_145796.4",
"protein_id": "NP_665739.3",
"transcript_support_level": null,
"aa_start": 809,
"aa_end": null,
"aa_length": 1315,
"cds_start": 2426,
"cds_end": null,
"cds_length": 3948,
"cdna_start": 2770,
"cdna_end": null,
"cdna_length": 6370,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POGZ",
"gene_hgnc_id": 18801,
"hgvs_c": "c.911T>A",
"hgvs_p": "p.Leu304*",
"transcript": "ENST00000529669.1",
"protein_id": "ENSP00000432295.1",
"transcript_support_level": 5,
"aa_start": 304,
"aa_end": null,
"aa_length": 315,
"cds_start": 911,
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"cdna_start": 911,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"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.2711T>A",
"hgvs_p": "p.Leu904*",
"transcript": "XM_005245000.5",
"protein_id": "XP_005245057.1",
"transcript_support_level": null,
"aa_start": 904,
"aa_end": null,
"aa_length": 1410,
"cds_start": 2711,
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"cds_length": 4233,
"cdna_start": 3588,
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"cdna_length": 7188,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"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.2711T>A",
"hgvs_p": "p.Leu904*",
"transcript": "XM_047450064.1",
"protein_id": "XP_047306020.1",
"transcript_support_level": null,
"aa_start": 904,
"aa_end": null,
"aa_length": 1410,
"cds_start": 2711,
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"cdna_start": 2751,
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"cdna_length": 6351,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"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.2705T>A",
"hgvs_p": "p.Leu902*",
"transcript": "XM_047450065.1",
"protein_id": "XP_047306021.1",
"transcript_support_level": null,
"aa_start": 902,
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"cdna_start": 2825,
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"feature": null
},
{
"aa_ref": "L",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"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.2684T>A",
"hgvs_p": "p.Leu895*",
"transcript": "XM_017000746.2",
"protein_id": "XP_016856235.1",
"transcript_support_level": null,
"aa_start": 895,
"aa_end": null,
"aa_length": 1401,
"cds_start": 2684,
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"feature": null
},
{
"aa_ref": "L",
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"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"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.2573T>A",
"hgvs_p": "p.Leu858*",
"transcript": "XM_017000748.2",
"protein_id": "XP_016856237.2",
"transcript_support_level": null,
"aa_start": 858,
"aa_end": null,
"aa_length": 1364,
"cds_start": 2573,
"cds_end": null,
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"cdna_start": 2693,
"cdna_end": null,
"cdna_length": 6293,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"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.2552T>A",
"hgvs_p": "p.Leu851*",
"transcript": "XM_005245005.3",
"protein_id": "XP_005245062.1",
"transcript_support_level": null,
"aa_start": 851,
"aa_end": null,
"aa_length": 1357,
"cds_start": 2552,
"cds_end": null,
"cds_length": 4074,
"cdna_start": 2896,
"cdna_end": null,
"cdna_length": 6496,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POGZ",
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"hgvs_c": "c.2546T>A",
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{
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},
{
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},
{
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],
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}
],
"gene_symbol": "POGZ",
"gene_hgnc_id": 18801,
"dbsnp": "rs864321668",
"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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"gnomad_mito_homoplasmic": null,
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"computational_score_selected": 0.2800000011920929,
"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": 0.28,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 0.155,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
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"apogee2_score": null,
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"mitotip_score": null,
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"acmg_score": 11,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5",
"acmg_by_gene": [
{
"score": 11,
"benign_score": 0,
"pathogenic_score": 11,
"criteria": [
"PVS1",
"PM2",
"PP5"
],
"verdict": "Pathogenic",
"transcript": "ENST00000271715.7",
"gene_symbol": "POGZ",
"hgnc_id": 18801,
"effects": [
"stop_gained"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2711T>A",
"hgvs_p": "p.Leu904*"
}
],
"clinvar_disease": "Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}