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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: 20-34913780-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=34913780&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 34913780,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001076552.3",
"consequences": [
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSS2",
"gene_hgnc_id": 15814,
"hgvs_c": "c.598T>C",
"hgvs_p": "p.Cys200Arg",
"transcript": "NM_018677.4",
"protein_id": "NP_061147.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 701,
"cds_start": 598,
"cds_end": null,
"cds_length": 2106,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000360596.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018677.4"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSS2",
"gene_hgnc_id": 15814,
"hgvs_c": "c.598T>C",
"hgvs_p": "p.Cys200Arg",
"transcript": "ENST00000360596.7",
"protein_id": "ENSP00000353804.2",
"transcript_support_level": 1,
"aa_start": 200,
"aa_end": null,
"aa_length": 701,
"cds_start": 598,
"cds_end": null,
"cds_length": 2106,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_018677.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000360596.7"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSS2",
"gene_hgnc_id": 15814,
"hgvs_c": "c.598T>C",
"hgvs_p": "p.Cys200Arg",
"transcript": "ENST00000871370.1",
"protein_id": "ENSP00000541429.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 724,
"cds_start": 598,
"cds_end": null,
"cds_length": 2175,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871370.1"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSS2",
"gene_hgnc_id": 15814,
"hgvs_c": "c.598T>C",
"hgvs_p": "p.Cys200Arg",
"transcript": "ENST00000957800.1",
"protein_id": "ENSP00000627859.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 723,
"cds_start": 598,
"cds_end": null,
"cds_length": 2172,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957800.1"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSS2",
"gene_hgnc_id": 15814,
"hgvs_c": "c.598T>C",
"hgvs_p": "p.Cys200Arg",
"transcript": "ENST00000957795.1",
"protein_id": "ENSP00000627854.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 720,
"cds_start": 598,
"cds_end": null,
"cds_length": 2163,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957795.1"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSS2",
"gene_hgnc_id": 15814,
"hgvs_c": "c.598T>C",
"hgvs_p": "p.Cys200Arg",
"transcript": "ENST00000871376.1",
"protein_id": "ENSP00000541435.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 718,
"cds_start": 598,
"cds_end": null,
"cds_length": 2157,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871376.1"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSS2",
"gene_hgnc_id": 15814,
"hgvs_c": "c.598T>C",
"hgvs_p": "p.Cys200Arg",
"transcript": "NM_001076552.3",
"protein_id": "NP_001070020.2",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 714,
"cds_start": 598,
"cds_end": null,
"cds_length": 2145,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001076552.3"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSS2",
"gene_hgnc_id": 15814,
"hgvs_c": "c.598T>C",
"hgvs_p": "p.Cys200Arg",
"transcript": "ENST00000253382.5",
"protein_id": "ENSP00000253382.5",
"transcript_support_level": 2,
"aa_start": 200,
"aa_end": null,
"aa_length": 714,
"cds_start": 598,
"cds_end": null,
"cds_length": 2145,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000253382.5"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSS2",
"gene_hgnc_id": 15814,
"hgvs_c": "c.598T>C",
"hgvs_p": "p.Cys200Arg",
"transcript": "ENST00000871368.1",
"protein_id": "ENSP00000541427.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 711,
"cds_start": 598,
"cds_end": null,
"cds_length": 2136,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871368.1"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSS2",
"gene_hgnc_id": 15814,
"hgvs_c": "c.598T>C",
"hgvs_p": "p.Cys200Arg",
"transcript": "ENST00000871379.1",
"protein_id": "ENSP00000541438.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 710,
"cds_start": 598,
"cds_end": null,
"cds_length": 2133,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871379.1"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSS2",
"gene_hgnc_id": 15814,
"hgvs_c": "c.598T>C",
"hgvs_p": "p.Cys200Arg",
"transcript": "ENST00000871374.1",
"protein_id": "ENSP00000541433.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 707,
"cds_start": 598,
"cds_end": null,
"cds_length": 2124,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871374.1"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSS2",
"gene_hgnc_id": 15814,
"hgvs_c": "c.595T>C",
"hgvs_p": "p.Cys199Arg",
"transcript": "ENST00000957796.1",
"protein_id": "ENSP00000627855.1",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 700,
"cds_start": 595,
"cds_end": null,
"cds_length": 2103,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957796.1"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSS2",
"gene_hgnc_id": 15814,
"hgvs_c": "c.598T>C",
"hgvs_p": "p.Cys200Arg",
"transcript": "ENST00000957799.1",
"protein_id": "ENSP00000627858.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 694,
"cds_start": 598,
"cds_end": null,
"cds_length": 2085,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957799.1"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSS2",
"gene_hgnc_id": 15814,
"hgvs_c": "c.598T>C",
"hgvs_p": "p.Cys200Arg",
"transcript": "ENST00000957794.1",
"protein_id": "ENSP00000627853.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 682,
"cds_start": 598,
"cds_end": null,
"cds_length": 2049,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957794.1"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSS2",
"gene_hgnc_id": 15814,
"hgvs_c": "c.598T>C",
"hgvs_p": "p.Cys200Arg",
"transcript": "ENST00000957797.1",
"protein_id": "ENSP00000627856.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 682,
"cds_start": 598,
"cds_end": null,
"cds_length": 2049,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957797.1"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSS2",
"gene_hgnc_id": 15814,
"hgvs_c": "c.598T>C",
"hgvs_p": "p.Cys200Arg",
"transcript": "ENST00000871373.1",
"protein_id": "ENSP00000541432.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 674,
"cds_start": 598,
"cds_end": null,
"cds_length": 2025,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871373.1"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSS2",
"gene_hgnc_id": 15814,
"hgvs_c": "c.598T>C",
"hgvs_p": "p.Cys200Arg",
"transcript": "ENST00000871378.1",
"protein_id": "ENSP00000541437.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 674,
"cds_start": 598,
"cds_end": null,
"cds_length": 2025,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871378.1"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSS2",
"gene_hgnc_id": 15814,
"hgvs_c": "c.466T>C",
"hgvs_p": "p.Cys156Arg",
"transcript": "ENST00000871380.1",
"protein_id": "ENSP00000541439.1",
"transcript_support_level": null,
"aa_start": 156,
"aa_end": null,
"aa_length": 670,
"cds_start": 466,
"cds_end": null,
"cds_length": 2013,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871380.1"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSS2",
"gene_hgnc_id": 15814,
"hgvs_c": "c.466T>C",
"hgvs_p": "p.Cys156Arg",
"transcript": "ENST00000871372.1",
"protein_id": "ENSP00000541431.1",
"transcript_support_level": null,
"aa_start": 156,
"aa_end": null,
"aa_length": 657,
"cds_start": 466,
"cds_end": null,
"cds_length": 1974,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871372.1"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSS2",
"gene_hgnc_id": 15814,
"hgvs_c": "c.598T>C",
"hgvs_p": "p.Cys200Arg",
"transcript": "ENST00000871371.1",
"protein_id": "ENSP00000541430.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 655,
"cds_start": 598,
"cds_end": null,
"cds_length": 1968,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871371.1"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSS2",
"gene_hgnc_id": 15814,
"hgvs_c": "c.598T>C",
"hgvs_p": "p.Cys200Arg",
"transcript": "ENST00000918464.1",
"protein_id": "ENSP00000588523.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 652,
"cds_start": 598,
"cds_end": null,
"cds_length": 1959,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918464.1"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSS2",
"gene_hgnc_id": 15814,
"hgvs_c": "c.598T>C",
"hgvs_p": "p.Cys200Arg",
"transcript": "ENST00000957804.1",
"protein_id": "ENSP00000627863.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 651,
"cds_start": 598,
"cds_end": null,
"cds_length": 1956,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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{
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{
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{
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"feature": "ENST00000481971.5"
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{
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{
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{
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{
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{
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{
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"consequences": [
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],
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"biotype": "pseudogene",
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],
"gene_symbol": "ACSS2",
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"dbsnp": "rs143832046",
"frequency_reference_population": 0.0000030978051,
"hom_count_reference_population": 0,
"allele_count_reference_population": 5,
"gnomad_exomes_af": 0.00000205218,
"gnomad_genomes_af": 0.000013142,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.46512097120285034,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.323,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.3678,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.04,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 5.843,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.02,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001076552.3",
"gene_symbol": "ACSS2",
"hgnc_id": 15814,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.598T>C",
"hgvs_p": "p.Cys200Arg"
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],
"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
}