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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: 6-105176540-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=105176540&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 105176540,
"ref": "T",
"alt": "G",
"effect": "intron_variant",
"transcript": "NM_022361.5",
"consequences": [
{
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "POPDC3",
"gene_hgnc_id": 17649,
"hgvs_c": "c.-252+3293A>C",
"hgvs_p": null,
"transcript": "NM_022361.5",
"protein_id": "NP_071756.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 291,
"cds_start": null,
"cds_end": null,
"cds_length": 876,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1879,
"mane_select": "ENST00000254765.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_022361.5"
},
{
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "POPDC3",
"gene_hgnc_id": 17649,
"hgvs_c": "c.-252+3293A>C",
"hgvs_p": null,
"transcript": "ENST00000254765.4",
"protein_id": "ENSP00000254765.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 291,
"cds_start": null,
"cds_end": null,
"cds_length": 876,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1879,
"mane_select": "NM_022361.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000254765.4"
},
{
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "POPDC3",
"gene_hgnc_id": 17649,
"hgvs_c": "c.-353+3293A>C",
"hgvs_p": null,
"transcript": "ENST00000882193.1",
"protein_id": "ENSP00000552252.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 291,
"cds_start": null,
"cds_end": null,
"cds_length": 876,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1923,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882193.1"
},
{
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "POPDC3",
"gene_hgnc_id": 17649,
"hgvs_c": "c.-371+3293A>C",
"hgvs_p": null,
"transcript": "ENST00000882194.1",
"protein_id": "ENSP00000552253.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 291,
"cds_start": null,
"cds_end": null,
"cds_length": 876,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1612,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882194.1"
},
{
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "POPDC3",
"gene_hgnc_id": 17649,
"hgvs_c": "c.-1429+3293A>C",
"hgvs_p": null,
"transcript": "ENST00000965832.1",
"protein_id": "ENSP00000635891.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 291,
"cds_start": null,
"cds_end": null,
"cds_length": 876,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3106,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965832.1"
},
{
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "POPDC3",
"gene_hgnc_id": 17649,
"hgvs_c": "c.-252+3285A>C",
"hgvs_p": null,
"transcript": "ENST00000965833.1",
"protein_id": "ENSP00000635892.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 291,
"cds_start": null,
"cds_end": null,
"cds_length": 876,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1908,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965833.1"
},
{
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "POPDC3",
"gene_hgnc_id": 17649,
"hgvs_c": "c.-455+3293A>C",
"hgvs_p": null,
"transcript": "ENST00000965834.1",
"protein_id": "ENSP00000635893.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 291,
"cds_start": null,
"cds_end": null,
"cds_length": 876,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2053,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965834.1"
},
{
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "POPDC3",
"gene_hgnc_id": 17649,
"hgvs_c": "c.-755+3293A>C",
"hgvs_p": null,
"transcript": "ENST00000965835.1",
"protein_id": "ENSP00000635894.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 291,
"cds_start": null,
"cds_end": null,
"cds_length": 876,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2089,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965835.1"
},
{
"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": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "POPDC3",
"gene_hgnc_id": 17649,
"hgvs_c": "c.-472+3293A>C",
"hgvs_p": null,
"transcript": "ENST00000965836.1",
"protein_id": "ENSP00000635895.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 291,
"cds_start": null,
"cds_end": null,
"cds_length": 876,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1710,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965836.1"
},
{
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "POPDC3",
"gene_hgnc_id": 17649,
"hgvs_c": "c.-1855+3293A>C",
"hgvs_p": null,
"transcript": "ENST00000965837.1",
"protein_id": "ENSP00000635896.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 291,
"cds_start": null,
"cds_end": null,
"cds_length": 876,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3088,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965837.1"
},
{
"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": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "POPDC3",
"gene_hgnc_id": 17649,
"hgvs_c": "c.-874+3293A>C",
"hgvs_p": null,
"transcript": "ENST00000965838.1",
"protein_id": "ENSP00000635897.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 291,
"cds_start": null,
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"cds_length": 876,
"cdna_start": null,
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"cdna_length": 2096,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965838.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
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"gene_symbol": "POPDC3",
"gene_hgnc_id": 17649,
"hgvs_c": "c.-252+3293A>C",
"hgvs_p": null,
"transcript": "ENST00000965839.1",
"protein_id": "ENSP00000635898.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 150,
"cds_start": null,
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"cds_length": 453,
"cdna_start": null,
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"cdna_length": 989,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965839.1"
},
{
"aa_ref": 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": 1,
"intron_rank_end": null,
"gene_symbol": "POPDC3",
"gene_hgnc_id": 17649,
"hgvs_c": "n.163+3293A>C",
"hgvs_p": null,
"transcript": "ENST00000474760.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
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"cds_length": null,
"cdna_start": null,
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"mane_select": null,
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"biotype": "pseudogene",
"feature": "ENST00000474760.1"
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 4,
"intron_rank": 3,
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"gene_symbol": "POPDC1-AS1",
"gene_hgnc_id": 21223,
"hgvs_c": "n.355-22863T>G",
"hgvs_p": null,
"transcript": "ENST00000687937.2",
"protein_id": null,
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"cdna_start": null,
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"biotype": "pseudogene",
"feature": "ENST00000687937.2"
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "POPDC1-AS1",
"gene_hgnc_id": 21223,
"hgvs_c": "n.437+22049T>G",
"hgvs_p": null,
"transcript": "ENST00000828902.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": 612,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000828902.1"
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "POPDC1-AS1",
"gene_hgnc_id": 21223,
"hgvs_c": "n.335-23429T>G",
"hgvs_p": null,
"transcript": "ENST00000828903.1",
"protein_id": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000828903.1"
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "POPDC1-AS1",
"gene_hgnc_id": 21223,
"hgvs_c": "n.348-22467T>G",
"hgvs_p": null,
"transcript": "ENST00000828904.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
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"aa_length": null,
"cds_start": null,
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"cdna_start": null,
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"cdna_length": 900,
"mane_select": null,
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"biotype": "pseudogene",
"feature": "ENST00000828904.1"
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "POPDC1-AS1",
"gene_hgnc_id": 21223,
"hgvs_c": "n.439+22049T>G",
"hgvs_p": null,
"transcript": "ENST00000828905.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
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"aa_length": null,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "pseudogene",
"feature": "ENST00000828905.1"
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "POPDC1-AS1",
"gene_hgnc_id": 21223,
"hgvs_c": "n.315-22863T>G",
"hgvs_p": null,
"transcript": "ENST00000828906.1",
"protein_id": null,
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},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "POPDC1-AS1",
"gene_hgnc_id": 21223,
"hgvs_c": "n.453-22863T>G",
"hgvs_p": null,
"transcript": "ENST00000828907.1",
"protein_id": null,
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"mane_select": null,
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"biotype": "pseudogene",
"feature": "ENST00000828907.1"
},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "POPDC1-AS1",
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"hgvs_c": "n.334-3874T>G",
"hgvs_p": null,
"transcript": "ENST00000828908.1",
"protein_id": null,
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"aa_start": null,
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"aa_length": null,
"cds_start": null,
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"cdna_start": null,
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"cdna_length": 525,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000828908.1"
},
{
"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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "POPDC1-AS1",
"gene_hgnc_id": 21223,
"hgvs_c": "n.352-3874T>G",
"hgvs_p": null,
"transcript": "ENST00000828909.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 543,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000828909.1"
},
{
"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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "POPDC1-AS1",
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{
"aa_ref": null,
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"canonical": false,
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"strand": true,
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"upstream_gene_variant"
],
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"exon_count": 4,
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"gene_symbol": "POPDC3",
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"transcript": "ENST00000882195.1",
"protein_id": "ENSP00000552254.1",
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"biotype": "protein_coding",
"feature": "ENST00000882195.1"
}
],
"gene_symbol": "POPDC3",
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"dbsnp": "rs1190270",
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"hom_count_reference_population": 52957,
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"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.819766,
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"gnomad_genomes_ac": 124552,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 52957,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8100000023841858,
"computational_prediction_selected": "Benign",
"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": -0.81,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.939,
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_022361.5",
"gene_symbol": "POPDC3",
"hgnc_id": 17649,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.-252+3293A>C",
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},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000687937.2",
"gene_symbol": "POPDC1-AS1",
"hgnc_id": 21223,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.355-22863T>G",
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}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}