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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: 13-36329371-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=36329371&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 36329371,
"ref": "A",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "NM_015087.5",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPART",
"gene_hgnc_id": 18514,
"hgvs_c": "c.1155T>G",
"hgvs_p": "p.Arg385Arg",
"transcript": "NM_015087.5",
"protein_id": "NP_055902.1",
"transcript_support_level": null,
"aa_start": 385,
"aa_end": null,
"aa_length": 666,
"cds_start": 1155,
"cds_end": null,
"cds_length": 2001,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000438666.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015087.5"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPART",
"gene_hgnc_id": 18514,
"hgvs_c": "c.1155T>G",
"hgvs_p": "p.Arg385Arg",
"transcript": "ENST00000438666.7",
"protein_id": "ENSP00000406061.2",
"transcript_support_level": 1,
"aa_start": 385,
"aa_end": null,
"aa_length": 666,
"cds_start": 1155,
"cds_end": null,
"cds_length": 2001,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_015087.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000438666.7"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPART",
"gene_hgnc_id": 18514,
"hgvs_c": "c.1155T>G",
"hgvs_p": "p.Arg385Arg",
"transcript": "ENST00000451493.5",
"protein_id": "ENSP00000414147.1",
"transcript_support_level": 1,
"aa_start": 385,
"aa_end": null,
"aa_length": 666,
"cds_start": 1155,
"cds_end": null,
"cds_length": 2001,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000451493.5"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPART",
"gene_hgnc_id": 18514,
"hgvs_c": "c.1155T>G",
"hgvs_p": "p.Arg385Arg",
"transcript": "ENST00000494062.2",
"protein_id": "ENSP00000473599.1",
"transcript_support_level": 1,
"aa_start": 385,
"aa_end": null,
"aa_length": 666,
"cds_start": 1155,
"cds_end": null,
"cds_length": 2001,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000494062.2"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPART",
"gene_hgnc_id": 18514,
"hgvs_c": "c.1206T>G",
"hgvs_p": "p.Arg402Arg",
"transcript": "ENST00000888927.1",
"protein_id": "ENSP00000558986.1",
"transcript_support_level": null,
"aa_start": 402,
"aa_end": null,
"aa_length": 683,
"cds_start": 1206,
"cds_end": null,
"cds_length": 2052,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888927.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPART",
"gene_hgnc_id": 18514,
"hgvs_c": "c.1155T>G",
"hgvs_p": "p.Arg385Arg",
"transcript": "NM_001142294.2",
"protein_id": "NP_001135766.1",
"transcript_support_level": null,
"aa_start": 385,
"aa_end": null,
"aa_length": 666,
"cds_start": 1155,
"cds_end": null,
"cds_length": 2001,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001142294.2"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPART",
"gene_hgnc_id": 18514,
"hgvs_c": "c.1155T>G",
"hgvs_p": "p.Arg385Arg",
"transcript": "NM_001142295.2",
"protein_id": "NP_001135767.1",
"transcript_support_level": null,
"aa_start": 385,
"aa_end": null,
"aa_length": 666,
"cds_start": 1155,
"cds_end": null,
"cds_length": 2001,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001142295.2"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPART",
"gene_hgnc_id": 18514,
"hgvs_c": "c.1155T>G",
"hgvs_p": "p.Arg385Arg",
"transcript": "NM_001142296.2",
"protein_id": "NP_001135768.1",
"transcript_support_level": null,
"aa_start": 385,
"aa_end": null,
"aa_length": 666,
"cds_start": 1155,
"cds_end": null,
"cds_length": 2001,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001142296.2"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPART",
"gene_hgnc_id": 18514,
"hgvs_c": "c.1155T>G",
"hgvs_p": "p.Arg385Arg",
"transcript": "ENST00000355182.8",
"protein_id": "ENSP00000347314.4",
"transcript_support_level": 5,
"aa_start": 385,
"aa_end": null,
"aa_length": 666,
"cds_start": 1155,
"cds_end": null,
"cds_length": 2001,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000355182.8"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPART",
"gene_hgnc_id": 18514,
"hgvs_c": "c.1155T>G",
"hgvs_p": "p.Arg385Arg",
"transcript": "ENST00000650221.1",
"protein_id": "ENSP00000497209.1",
"transcript_support_level": null,
"aa_start": 385,
"aa_end": null,
"aa_length": 666,
"cds_start": 1155,
"cds_end": null,
"cds_length": 2001,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000650221.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPART",
"gene_hgnc_id": 18514,
"hgvs_c": "c.1155T>G",
"hgvs_p": "p.Arg385Arg",
"transcript": "ENST00000888906.1",
"protein_id": "ENSP00000558965.1",
"transcript_support_level": null,
"aa_start": 385,
"aa_end": null,
"aa_length": 666,
"cds_start": 1155,
"cds_end": null,
"cds_length": 2001,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888906.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPART",
"gene_hgnc_id": 18514,
"hgvs_c": "c.1155T>G",
"hgvs_p": "p.Arg385Arg",
"transcript": "ENST00000888908.1",
"protein_id": "ENSP00000558967.1",
"transcript_support_level": null,
"aa_start": 385,
"aa_end": null,
"aa_length": 666,
"cds_start": 1155,
"cds_end": null,
"cds_length": 2001,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888908.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPART",
"gene_hgnc_id": 18514,
"hgvs_c": "c.1155T>G",
"hgvs_p": "p.Arg385Arg",
"transcript": "ENST00000888909.1",
"protein_id": "ENSP00000558968.1",
"transcript_support_level": null,
"aa_start": 385,
"aa_end": null,
"aa_length": 666,
"cds_start": 1155,
"cds_end": null,
"cds_length": 2001,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888909.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPART",
"gene_hgnc_id": 18514,
"hgvs_c": "c.1155T>G",
"hgvs_p": "p.Arg385Arg",
"transcript": "ENST00000888910.1",
"protein_id": "ENSP00000558969.1",
"transcript_support_level": null,
"aa_start": 385,
"aa_end": null,
"aa_length": 666,
"cds_start": 1155,
"cds_end": null,
"cds_length": 2001,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888910.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPART",
"gene_hgnc_id": 18514,
"hgvs_c": "c.1155T>G",
"hgvs_p": "p.Arg385Arg",
"transcript": "ENST00000888912.1",
"protein_id": "ENSP00000558971.1",
"transcript_support_level": null,
"aa_start": 385,
"aa_end": null,
"aa_length": 666,
"cds_start": 1155,
"cds_end": null,
"cds_length": 2001,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888912.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPART",
"gene_hgnc_id": 18514,
"hgvs_c": "c.1155T>G",
"hgvs_p": "p.Arg385Arg",
"transcript": "ENST00000888913.1",
"protein_id": "ENSP00000558972.1",
"transcript_support_level": null,
"aa_start": 385,
"aa_end": null,
"aa_length": 666,
"cds_start": 1155,
"cds_end": null,
"cds_length": 2001,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888913.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPART",
"gene_hgnc_id": 18514,
"hgvs_c": "c.1155T>G",
"hgvs_p": "p.Arg385Arg",
"transcript": "ENST00000888914.1",
"protein_id": "ENSP00000558973.1",
"transcript_support_level": null,
"aa_start": 385,
"aa_end": null,
"aa_length": 666,
"cds_start": 1155,
"cds_end": null,
"cds_length": 2001,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888914.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPART",
"gene_hgnc_id": 18514,
"hgvs_c": "c.1155T>G",
"hgvs_p": "p.Arg385Arg",
"transcript": "ENST00000888916.1",
"protein_id": "ENSP00000558975.1",
"transcript_support_level": null,
"aa_start": 385,
"aa_end": null,
"aa_length": 666,
"cds_start": 1155,
"cds_end": null,
"cds_length": 2001,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888916.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPART",
"gene_hgnc_id": 18514,
"hgvs_c": "c.1155T>G",
"hgvs_p": "p.Arg385Arg",
"transcript": "ENST00000888917.1",
"protein_id": "ENSP00000558976.1",
"transcript_support_level": null,
"aa_start": 385,
"aa_end": null,
"aa_length": 666,
"cds_start": 1155,
"cds_end": null,
"cds_length": 2001,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888917.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPART",
"gene_hgnc_id": 18514,
"hgvs_c": "c.1155T>G",
"hgvs_p": "p.Arg385Arg",
"transcript": "ENST00000888918.1",
"protein_id": "ENSP00000558977.1",
"transcript_support_level": null,
"aa_start": 385,
"aa_end": null,
"aa_length": 666,
"cds_start": 1155,
"cds_end": null,
"cds_length": 2001,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888918.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPART",
"gene_hgnc_id": 18514,
"hgvs_c": "c.1155T>G",
"hgvs_p": "p.Arg385Arg",
"transcript": "ENST00000888920.1",
"protein_id": "ENSP00000558979.1",
"transcript_support_level": null,
"aa_start": 385,
"aa_end": null,
"aa_length": 666,
"cds_start": 1155,
"cds_end": null,
"cds_length": 2001,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888920.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPART",
"gene_hgnc_id": 18514,
"hgvs_c": "c.1155T>G",
"hgvs_p": "p.Arg385Arg",
"transcript": "ENST00000888921.1",
"protein_id": "ENSP00000558980.1",
"transcript_support_level": null,
"aa_start": 385,
"aa_end": null,
"aa_length": 666,
"cds_start": 1155,
"cds_end": null,
"cds_length": 2001,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888921.1"
},
{
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{
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"canonical": false,
"protein_coding": true,
"strand": false,
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],
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"exon_count": 10,
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"transcript": "ENST00000929608.1",
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"feature": "ENST00000929608.1"
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{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 9,
"intron_rank": 4,
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"gene_symbol": "SPART",
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"transcript": "ENST00000929611.1",
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"biotype": "protein_coding",
"feature": "ENST00000929611.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
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"exon_count": 9,
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"gene_symbol": "SPART",
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"transcript": "ENST00000961056.1",
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{
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"protein_coding": false,
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"non_coding_transcript_exon_variant"
],
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"gene_symbol": "SPART",
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"biotype": "pseudogene",
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{
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"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
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"exon_count": 8,
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"gene_symbol": "SPART",
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"hgvs_c": "n.1327T>G",
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"transcript": "XR_007063671.1",
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"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007063671.1"
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],
"gene_symbol": "SPART",
"gene_hgnc_id": 18514,
"dbsnp": "rs140222511",
"frequency_reference_population": 0.00030048785,
"hom_count_reference_population": 3,
"allele_count_reference_population": 485,
"gnomad_exomes_af": 0.000169652,
"gnomad_genomes_af": 0.00155692,
"gnomad_exomes_ac": 248,
"gnomad_genomes_ac": 237,
"gnomad_exomes_homalt": 2,
"gnomad_genomes_homalt": 1,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.6100000143051147,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.1599999964237213,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.61,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.28,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.16,
"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": -14,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6,BP7,BS1,BS2",
"acmg_by_gene": [
{
"score": -14,
"benign_score": 14,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6",
"BP7",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_015087.5",
"gene_symbol": "SPART",
"hgnc_id": 18514,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1155T>G",
"hgvs_p": "p.Arg385Arg"
}
],
"clinvar_disease": "Troyer syndrome,not provided",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:1 B:2",
"phenotype_combined": "Troyer syndrome|not provided",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}