← Back to variant description
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: 7-106097766-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=106097766&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 106097766,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001381910.1",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYPL1",
"gene_hgnc_id": 11507,
"hgvs_c": "c.326T>C",
"hgvs_p": "p.Leu109Pro",
"transcript": "NM_182715.4",
"protein_id": "NP_874384.1",
"transcript_support_level": null,
"aa_start": 109,
"aa_end": null,
"aa_length": 241,
"cds_start": 326,
"cds_end": null,
"cds_length": 726,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000455385.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_182715.4"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYPL1",
"gene_hgnc_id": 11507,
"hgvs_c": "c.326T>C",
"hgvs_p": "p.Leu109Pro",
"transcript": "ENST00000455385.7",
"protein_id": "ENSP00000388336.2",
"transcript_support_level": 1,
"aa_start": 109,
"aa_end": null,
"aa_length": 241,
"cds_start": 326,
"cds_end": null,
"cds_length": 726,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_182715.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000455385.7"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYPL1",
"gene_hgnc_id": 11507,
"hgvs_c": "c.380T>C",
"hgvs_p": "p.Leu127Pro",
"transcript": "ENST00000011473.6",
"protein_id": "ENSP00000011473.2",
"transcript_support_level": 1,
"aa_start": 127,
"aa_end": null,
"aa_length": 259,
"cds_start": 380,
"cds_end": null,
"cds_length": 780,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000011473.6"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYPL1",
"gene_hgnc_id": 11507,
"hgvs_c": "c.458T>C",
"hgvs_p": "p.Leu153Pro",
"transcript": "NM_001381910.1",
"protein_id": "NP_001368839.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 285,
"cds_start": 458,
"cds_end": null,
"cds_length": 858,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001381910.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYPL1",
"gene_hgnc_id": 11507,
"hgvs_c": "c.458T>C",
"hgvs_p": "p.Leu153Pro",
"transcript": "ENST00000706299.1",
"protein_id": "ENSP00000516340.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 285,
"cds_start": 458,
"cds_end": null,
"cds_length": 858,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000706299.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYPL1",
"gene_hgnc_id": 11507,
"hgvs_c": "c.404T>C",
"hgvs_p": "p.Leu135Pro",
"transcript": "NM_001381911.1",
"protein_id": "NP_001368840.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 267,
"cds_start": 404,
"cds_end": null,
"cds_length": 804,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001381911.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYPL1",
"gene_hgnc_id": 11507,
"hgvs_c": "c.380T>C",
"hgvs_p": "p.Leu127Pro",
"transcript": "NM_006754.5",
"protein_id": "NP_006745.1",
"transcript_support_level": null,
"aa_start": 127,
"aa_end": null,
"aa_length": 259,
"cds_start": 380,
"cds_end": null,
"cds_length": 780,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006754.5"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYPL1",
"gene_hgnc_id": 11507,
"hgvs_c": "c.380T>C",
"hgvs_p": "p.Leu127Pro",
"transcript": "NM_001381918.1",
"protein_id": "NP_001368847.1",
"transcript_support_level": null,
"aa_start": 127,
"aa_end": null,
"aa_length": 242,
"cds_start": 380,
"cds_end": null,
"cds_length": 729,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001381918.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYPL1",
"gene_hgnc_id": 11507,
"hgvs_c": "c.380T>C",
"hgvs_p": "p.Leu127Pro",
"transcript": "NM_001381919.1",
"protein_id": "NP_001368848.1",
"transcript_support_level": null,
"aa_start": 127,
"aa_end": null,
"aa_length": 242,
"cds_start": 380,
"cds_end": null,
"cds_length": 729,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001381919.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYPL1",
"gene_hgnc_id": 11507,
"hgvs_c": "c.380T>C",
"hgvs_p": "p.Leu127Pro",
"transcript": "ENST00000706298.1",
"protein_id": "ENSP00000516339.1",
"transcript_support_level": null,
"aa_start": 127,
"aa_end": null,
"aa_length": 242,
"cds_start": 380,
"cds_end": null,
"cds_length": 729,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000706298.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYPL1",
"gene_hgnc_id": 11507,
"hgvs_c": "c.314T>C",
"hgvs_p": "p.Leu105Pro",
"transcript": "NM_001381912.1",
"protein_id": "NP_001368841.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 237,
"cds_start": 314,
"cds_end": null,
"cds_length": 714,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001381912.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYPL1",
"gene_hgnc_id": 11507,
"hgvs_c": "c.326T>C",
"hgvs_p": "p.Leu109Pro",
"transcript": "NM_001381920.1",
"protein_id": "NP_001368849.1",
"transcript_support_level": null,
"aa_start": 109,
"aa_end": null,
"aa_length": 224,
"cds_start": 326,
"cds_end": null,
"cds_length": 675,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001381920.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYPL1",
"gene_hgnc_id": 11507,
"hgvs_c": "c.326T>C",
"hgvs_p": "p.Leu109Pro",
"transcript": "NM_001381921.1",
"protein_id": "NP_001368850.1",
"transcript_support_level": null,
"aa_start": 109,
"aa_end": null,
"aa_length": 224,
"cds_start": 326,
"cds_end": null,
"cds_length": 675,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001381921.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYPL1",
"gene_hgnc_id": 11507,
"hgvs_c": "c.326T>C",
"hgvs_p": "p.Leu109Pro",
"transcript": "ENST00000470347.1",
"protein_id": "ENSP00000419070.1",
"transcript_support_level": 3,
"aa_start": 109,
"aa_end": null,
"aa_length": 224,
"cds_start": 326,
"cds_end": null,
"cds_length": 675,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000470347.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYPL1",
"gene_hgnc_id": 11507,
"hgvs_c": "c.380T>C",
"hgvs_p": "p.Leu127Pro",
"transcript": "NM_001381913.1",
"protein_id": "NP_001368842.1",
"transcript_support_level": null,
"aa_start": 127,
"aa_end": null,
"aa_length": 196,
"cds_start": 380,
"cds_end": null,
"cds_length": 591,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001381913.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYPL1",
"gene_hgnc_id": 11507,
"hgvs_c": "c.326T>C",
"hgvs_p": "p.Leu109Pro",
"transcript": "ENST00000895750.1",
"protein_id": "ENSP00000565809.1",
"transcript_support_level": null,
"aa_start": 109,
"aa_end": null,
"aa_length": 178,
"cds_start": 326,
"cds_end": null,
"cds_length": 537,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895750.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYPL1",
"gene_hgnc_id": 11507,
"hgvs_c": "c.95T>C",
"hgvs_p": "p.Leu32Pro",
"transcript": "ENST00000464029.5",
"protein_id": "ENSP00000417473.1",
"transcript_support_level": 2,
"aa_start": 32,
"aa_end": null,
"aa_length": 147,
"cds_start": 95,
"cds_end": null,
"cds_length": 444,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000464029.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYPL1",
"gene_hgnc_id": 11507,
"hgvs_c": "c.-71T>C",
"hgvs_p": null,
"transcript": "NM_001381917.1",
"protein_id": "NP_001368846.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 109,
"cds_start": null,
"cds_end": null,
"cds_length": 330,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001381917.1"
},
{
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SYPL1",
"gene_hgnc_id": 11507,
"hgvs_c": "c.70-4629T>C",
"hgvs_p": null,
"transcript": "NM_001381915.1",
"protein_id": "NP_001368844.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 130,
"cds_start": null,
"cds_end": null,
"cds_length": 393,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001381915.1"
},
{
"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": "SYPL1",
"gene_hgnc_id": 11507,
"hgvs_c": "c.70-4629T>C",
"hgvs_p": null,
"transcript": "NM_001381916.1",
"protein_id": "NP_001368845.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 113,
"cds_start": null,
"cds_end": null,
"cds_length": 342,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001381916.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYPL1",
"gene_hgnc_id": 11507,
"hgvs_c": "n.260T>C",
"hgvs_p": null,
"transcript": "ENST00000634737.1",
"protein_id": "ENSP00000489167.1",
"transcript_support_level": 5,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000634737.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYPL1",
"gene_hgnc_id": 11507,
"hgvs_c": "n.430T>C",
"hgvs_p": null,
"transcript": "NR_167729.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_167729.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYPL1",
"gene_hgnc_id": 11507,
"hgvs_c": "n.564T>C",
"hgvs_p": null,
"transcript": "NR_167730.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_167730.1"
},
{
"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": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SYPL1",
"gene_hgnc_id": 11507,
"hgvs_c": "n.194+1392T>C",
"hgvs_p": null,
"transcript": "ENST00000706297.1",
"protein_id": "ENSP00000516338.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000706297.1"
}
],
"gene_symbol": "SYPL1",
"gene_hgnc_id": 11507,
"dbsnp": "rs1010284986",
"frequency_reference_population": 0.000006195756,
"hom_count_reference_population": 0,
"allele_count_reference_population": 10,
"gnomad_exomes_af": 0.00000410471,
"gnomad_genomes_af": 0.0000262688,
"gnomad_exomes_ac": 6,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9363157749176025,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.807,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9747,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.2,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 6.87,
"phylop100way_prediction": "Uncertain_significance",
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001381910.1",
"gene_symbol": "SYPL1",
"hgnc_id": 11507,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.458T>C",
"hgvs_p": "p.Leu153Pro"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}