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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: 12-89523356-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=89523356&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 89523356,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000548729.5",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALNT4",
"gene_hgnc_id": 4126,
"hgvs_c": "c.1194C>T",
"hgvs_p": "p.Asn398Asn",
"transcript": "NM_003774.5",
"protein_id": "NP_003765.2",
"transcript_support_level": null,
"aa_start": 398,
"aa_end": null,
"aa_length": 578,
"cds_start": 1194,
"cds_end": null,
"cds_length": 1737,
"cdna_start": 1441,
"cdna_end": null,
"cdna_length": 5385,
"mane_select": "ENST00000529983.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALNT4",
"gene_hgnc_id": 4126,
"hgvs_c": "c.1194C>T",
"hgvs_p": "p.Asn398Asn",
"transcript": "ENST00000529983.3",
"protein_id": "ENSP00000436604.2",
"transcript_support_level": 6,
"aa_start": 398,
"aa_end": null,
"aa_length": 578,
"cds_start": 1194,
"cds_end": null,
"cds_length": 1737,
"cdna_start": 1441,
"cdna_end": null,
"cdna_length": 5385,
"mane_select": "NM_003774.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POC1B-GALNT4",
"gene_hgnc_id": 42957,
"hgvs_c": "c.1185C>T",
"hgvs_p": "p.Asn395Asn",
"transcript": "ENST00000548729.5",
"protein_id": "ENSP00000447852.1",
"transcript_support_level": 2,
"aa_start": 395,
"aa_end": null,
"aa_length": 575,
"cds_start": 1185,
"cds_end": null,
"cds_length": 1728,
"cdna_start": 1488,
"cdna_end": null,
"cdna_length": 5436,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "POC1B",
"gene_hgnc_id": 30836,
"hgvs_c": "c.100+1764C>T",
"hgvs_p": null,
"transcript": "NM_172240.3",
"protein_id": "NP_758440.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 478,
"cds_start": -4,
"cds_end": null,
"cds_length": 1437,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3024,
"mane_select": "ENST00000313546.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "POC1B",
"gene_hgnc_id": 30836,
"hgvs_c": "c.100+1764C>T",
"hgvs_p": null,
"transcript": "ENST00000313546.8",
"protein_id": "ENSP00000323302.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 478,
"cds_start": -4,
"cds_end": null,
"cds_length": 1437,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3024,
"mane_select": "NM_172240.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "POC1B",
"gene_hgnc_id": 30836,
"hgvs_c": "c.-119+1764C>T",
"hgvs_p": null,
"transcript": "ENST00000393179.8",
"protein_id": "ENSP00000376877.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 348,
"cds_start": -4,
"cds_end": null,
"cds_length": 1047,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3096,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POC1B-GALNT4",
"gene_hgnc_id": 42957,
"hgvs_c": "c.1185C>T",
"hgvs_p": "p.Asn395Asn",
"transcript": "NM_001199781.2",
"protein_id": "NP_001186710.1",
"transcript_support_level": null,
"aa_start": 395,
"aa_end": null,
"aa_length": 575,
"cds_start": 1185,
"cds_end": null,
"cds_length": 1728,
"cdna_start": 1337,
"cdna_end": null,
"cdna_length": 5281,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POC1B-GALNT4",
"gene_hgnc_id": 42957,
"hgvs_c": "c.678C>T",
"hgvs_p": "p.Asn226Asn",
"transcript": "NM_001199782.1",
"protein_id": "NP_001186711.1",
"transcript_support_level": null,
"aa_start": 226,
"aa_end": null,
"aa_length": 406,
"cds_start": 678,
"cds_end": null,
"cds_length": 1221,
"cdna_start": 785,
"cdna_end": null,
"cdna_length": 4729,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POC1B-GALNT4",
"gene_hgnc_id": 42957,
"hgvs_c": "c.*289C>T",
"hgvs_p": null,
"transcript": "ENST00000547474.1",
"protein_id": "ENSP00000447754.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 42,
"cds_start": -4,
"cds_end": null,
"cds_length": 129,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2207,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "POC1B",
"gene_hgnc_id": 30836,
"hgvs_c": "c.-27+1764C>T",
"hgvs_p": null,
"transcript": "NM_001199777.2",
"protein_id": "NP_001186706.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 436,
"cds_start": -4,
"cds_end": null,
"cds_length": 1311,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3083,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "POC1B",
"gene_hgnc_id": 30836,
"hgvs_c": "c.-27+1764C>T",
"hgvs_p": null,
"transcript": "ENST00000549035.1",
"protein_id": "ENSP00000447916.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 436,
"cds_start": -4,
"cds_end": null,
"cds_length": 1311,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2038,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "POC1B",
"gene_hgnc_id": 30836,
"hgvs_c": "c.100+1764C>T",
"hgvs_p": null,
"transcript": "NM_001425771.1",
"protein_id": "NP_001412700.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 403,
"cds_start": -4,
"cds_end": null,
"cds_length": 1212,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1478,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "POC1B-DUSP6",
"gene_hgnc_id": null,
"hgvs_c": "c.100+1764C>T",
"hgvs_p": null,
"transcript": "NM_001425794.1",
"protein_id": "NP_001412723.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 394,
"cds_start": -4,
"cds_end": null,
"cds_length": 1185,
"cdna_start": null,
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"cdna_length": 2762,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "POC1B",
"gene_hgnc_id": 30836,
"hgvs_c": "c.100+1764C>T",
"hgvs_p": null,
"transcript": "NM_001425772.1",
"protein_id": "NP_001412701.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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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": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "POC1B-DUSP6",
"gene_hgnc_id": null,
"hgvs_c": "c.100+1764C>T",
"hgvs_p": null,
"transcript": "NM_001425795.1",
"protein_id": "NP_001412724.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 367,
"cds_start": -4,
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"cds_length": 1104,
"cdna_start": null,
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"cdna_length": 2681,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "POC1B-DUSP6",
"gene_hgnc_id": null,
"hgvs_c": "c.-119+1764C>T",
"hgvs_p": null,
"transcript": "NM_001425796.1",
"protein_id": "NP_001412725.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "POC1B",
"gene_hgnc_id": 30836,
"hgvs_c": "c.-119+1764C>T",
"hgvs_p": null,
"transcript": "NM_001425773.1",
"protein_id": "NP_001412702.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 220,
"cds_start": -4,
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"cds_length": 663,
"cdna_start": 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": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "POC1B",
"gene_hgnc_id": 30836,
"hgvs_c": "c.-119+1764C>T",
"hgvs_p": null,
"transcript": "ENST00000549504.1",
"protein_id": "ENSP00000450118.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 93,
"cds_start": -4,
"cds_end": null,
"cds_length": 282,
"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "POC1B",
"gene_hgnc_id": 30836,
"hgvs_c": "n.198+1764C>T",
"hgvs_p": null,
"transcript": "ENST00000539190.6",
"protein_id": null,
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"aa_start": null,
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"aa_length": null,
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},
{
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"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "POC1B",
"gene_hgnc_id": 30836,
"hgvs_c": "n.100+1764C>T",
"hgvs_p": null,
"transcript": "ENST00000546830.1",
"protein_id": "ENSP00000449256.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "POC1B",
"gene_hgnc_id": 30836,
"hgvs_c": "n.100+1764C>T",
"hgvs_p": null,
"transcript": "ENST00000547274.5",
"protein_id": "ENSP00000449648.1",
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"aa_start": null,
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"aa_length": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 2,
"intron_rank_end": null,
"gene_symbol": "POC1B",
"gene_hgnc_id": 30836,
"hgvs_c": "n.100+1764C>T",
"hgvs_p": null,
"transcript": "ENST00000547496.5",
"protein_id": "ENSP00000447437.1",
"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": 1392,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "POC1B",
"gene_hgnc_id": 30836,
"hgvs_c": "n.100+1764C>T",
"hgvs_p": null,
"transcript": "ENST00000548715.5",
"protein_id": "ENSP00000449945.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": -0.58,
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"phylop100way_prediction": "Uncertain_significance",
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"spliceai_max_prediction": "Benign",
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"acmg_score": 3,
"acmg_classification": "Uncertain_significance",
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{
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"PP5_Moderate",
"BP4"
],
"verdict": "Uncertain_significance",
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],
"inheritance_mode": "",
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},
{
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"BP4"
],
"verdict": "Uncertain_significance",
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],
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{
"score": 1,
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"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000313546.8",
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"effects": [
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],
"inheritance_mode": "AD,AR",
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{
"score": 3,
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"PP5_Moderate",
"BP4"
],
"verdict": "Uncertain_significance",
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],
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}
],
"clinvar_disease": "Childhood-onset schizophrenia",
"clinvar_classification": "Likely pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LP:1",
"phenotype_combined": "Childhood-onset schizophrenia",
"pathogenicity_classification_combined": "Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}