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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: 11-72003880-C-CCT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=72003880&ref=C&alt=CCT&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 72003880,
"ref": "C",
"alt": "CCT",
"effect": "splice_region_variant,intron_variant",
"transcript": "NM_006185.4",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 26,
"intron_rank_end": null,
"gene_symbol": "NUMA1",
"gene_hgnc_id": 8059,
"hgvs_c": "c.6336+5_6336+6dupAG",
"hgvs_p": null,
"transcript": "NM_006185.4",
"protein_id": "NP_006176.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2115,
"cds_start": -4,
"cds_end": null,
"cds_length": 6348,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7198,
"mane_select": "ENST00000393695.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 26,
"intron_rank_end": null,
"gene_symbol": "NUMA1",
"gene_hgnc_id": 8059,
"hgvs_c": "c.6336+6_6336+7insAG",
"hgvs_p": null,
"transcript": "ENST00000393695.8",
"protein_id": "ENSP00000377298.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 2115,
"cds_start": -4,
"cds_end": null,
"cds_length": 6348,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7198,
"mane_select": "NM_006185.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": 24,
"intron_rank_end": null,
"gene_symbol": "NUMA1",
"gene_hgnc_id": 8059,
"hgvs_c": "c.2928+6_2928+7insAG",
"hgvs_p": null,
"transcript": "ENST00000351960.10",
"protein_id": "ENSP00000260051.8",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 979,
"cds_start": -4,
"cds_end": null,
"cds_length": 2940,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3775,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "NUMA1",
"gene_hgnc_id": 8059,
"hgvs_c": "c.2880+6_2880+7insAG",
"hgvs_p": null,
"transcript": "ENST00000541584.5",
"protein_id": "ENSP00000440954.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 963,
"cds_start": -4,
"cds_end": null,
"cds_length": 2892,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3557,
"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": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "IL18BP",
"gene_hgnc_id": 5987,
"hgvs_c": "n.*908+1076_*908+1077insCT",
"hgvs_p": null,
"transcript": "ENST00000343898.9",
"protein_id": "ENSP00000343309.5",
"transcript_support_level": 1,
"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": 1720,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 26,
"intron_rank_end": null,
"gene_symbol": "NUMA1",
"gene_hgnc_id": 8059,
"hgvs_c": "c.6294+5_6294+6dupAG",
"hgvs_p": null,
"transcript": "NM_001286561.2",
"protein_id": "NP_001273490.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2101,
"cds_start": -4,
"cds_end": null,
"cds_length": 6306,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7254,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 26,
"intron_rank_end": null,
"gene_symbol": "NUMA1",
"gene_hgnc_id": 8059,
"hgvs_c": "c.6294+6_6294+7insAG",
"hgvs_p": null,
"transcript": "ENST00000358965.10",
"protein_id": "ENSP00000351851.6",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 2101,
"cds_start": -4,
"cds_end": null,
"cds_length": 6306,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7227,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "NUMA1",
"gene_hgnc_id": 8059,
"hgvs_c": "c.6294+6_6294+7insAG",
"hgvs_p": null,
"transcript": "ENST00000620566.4",
"protein_id": "ENSP00000478624.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 2101,
"cds_start": -4,
"cds_end": null,
"cds_length": 6306,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7012,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": 24,
"intron_rank_end": null,
"gene_symbol": "NUMA1",
"gene_hgnc_id": 8059,
"hgvs_c": "c.2928+6_2928+7insAG",
"hgvs_p": null,
"transcript": "ENST00000613205.4",
"protein_id": "ENSP00000480172.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 979,
"cds_start": -4,
"cds_end": null,
"cds_length": 2940,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3940,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "NUMA1",
"gene_hgnc_id": 8059,
"hgvs_c": "n.1601+6_1601+7insAG",
"hgvs_p": null,
"transcript": "ENST00000540626.5",
"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": 2276,
"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": 8,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "IL18BP",
"gene_hgnc_id": 5987,
"hgvs_c": "n.*943+1076_*943+1077insCT",
"hgvs_p": null,
"transcript": "ENST00000698837.1",
"protein_id": "ENSP00000513973.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 3912,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "IL18BP",
"gene_hgnc_id": 5987,
"hgvs_c": "n.*943+1076_*943+1077insCT",
"hgvs_p": null,
"transcript": "ENST00000698838.1",
"protein_id": "ENSP00000513974.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 4030,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "IL18BP",
"gene_hgnc_id": 5987,
"hgvs_c": "n.*943+1076_*943+1077insCT",
"hgvs_p": null,
"transcript": "ENST00000698839.1",
"protein_id": "ENSP00000513975.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": null,
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"cdna_start": null,
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"cdna_length": 3602,
"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 6,
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"gene_symbol": "IL18BP",
"gene_hgnc_id": 5987,
"hgvs_c": "n.*943+1076_*943+1077insCT",
"hgvs_p": null,
"transcript": "ENST00000698840.1",
"protein_id": "ENSP00000513976.1",
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": 24,
"intron_rank_end": null,
"gene_symbol": "NUMA1",
"gene_hgnc_id": 8059,
"hgvs_c": "n.3253+5_3253+6dupAG",
"hgvs_p": null,
"transcript": "NR_104476.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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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": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 26,
"intron_rank_end": null,
"gene_symbol": "NUMA1",
"gene_hgnc_id": 8059,
"hgvs_c": "c.6390+5_6390+6dupAG",
"hgvs_p": null,
"transcript": "XM_011545054.3",
"protein_id": "XP_011543356.1",
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"cdna_start": null,
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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": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 27,
"intron_rank_end": null,
"gene_symbol": "NUMA1",
"gene_hgnc_id": 8059,
"hgvs_c": "c.6390+5_6390+6dupAG",
"hgvs_p": null,
"transcript": "XM_011545055.2",
"protein_id": "XP_011543357.1",
"transcript_support_level": null,
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"cdna_start": null,
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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": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 28,
"intron_rank_end": null,
"gene_symbol": "NUMA1",
"gene_hgnc_id": 8059,
"hgvs_c": "c.6390+5_6390+6dupAG",
"hgvs_p": null,
"transcript": "XM_011545056.3",
"protein_id": "XP_011543358.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"feature": null
},
{
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"strand": false,
"consequences": [
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"intron_variant"
],
"exon_rank": null,
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"exon_count": 29,
"intron_rank": 28,
"intron_rank_end": null,
"gene_symbol": "NUMA1",
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"hgvs_c": "c.6390+5_6390+6dupAG",
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"protein_id": "XP_011543359.1",
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"feature": null
},
{
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"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
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"exon_count": 27,
"intron_rank": 26,
"intron_rank_end": null,
"gene_symbol": "NUMA1",
"gene_hgnc_id": 8059,
"hgvs_c": "c.6390+5_6390+6dupAG",
"hgvs_p": null,
"transcript": "XM_011545058.2",
"protein_id": "XP_011543360.1",
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 28,
"intron_rank_end": null,
"gene_symbol": "NUMA1",
"gene_hgnc_id": 8059,
"hgvs_c": "c.6390+5_6390+6dupAG",
"hgvs_p": null,
"transcript": "XM_011545059.3",
"protein_id": "XP_011543361.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 28,
"intron_rank_end": null,
"gene_symbol": "NUMA1",
"gene_hgnc_id": 8059,
"hgvs_c": "c.6390+5_6390+6dupAG",
"hgvs_p": null,
"transcript": "XM_011545060.3",
"protein_id": "XP_011543362.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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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,
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"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": -0.945,
"phylop100way_prediction": "Benign",
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP6",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP6"
],
"verdict": "Uncertain_significance",
"transcript": "NM_006185.4",
"gene_symbol": "NUMA1",
"hgnc_id": 8059,
"effects": [
"splice_region_variant",
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.6336+5_6336+6dupAG",
"hgvs_p": null
},
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP6"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000343898.9",
"gene_symbol": "IL18BP",
"hgnc_id": 5987,
"effects": [
"intron_variant"
],
"inheritance_mode": "Unknown",
"hgvs_c": "n.*908+1076_*908+1077insCT",
"hgvs_p": null
}
],
"clinvar_disease": "NUMA1-related disorder",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "NUMA1-related disorder",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}