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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: 11-35260920-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=35260920&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 35260920,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_004171.4",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC1A2",
"gene_hgnc_id": 10940,
"hgvs_c": "c.1699G>A",
"hgvs_p": "p.Glu567Lys",
"transcript": "NM_004171.4",
"protein_id": "NP_004162.2",
"transcript_support_level": null,
"aa_start": 567,
"aa_end": null,
"aa_length": 574,
"cds_start": 1699,
"cds_end": null,
"cds_length": 1725,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000278379.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004171.4"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC1A2",
"gene_hgnc_id": 10940,
"hgvs_c": "c.1699G>A",
"hgvs_p": "p.Glu567Lys",
"transcript": "ENST00000278379.9",
"protein_id": "ENSP00000278379.3",
"transcript_support_level": 1,
"aa_start": 567,
"aa_end": null,
"aa_length": 574,
"cds_start": 1699,
"cds_end": null,
"cds_length": 1725,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004171.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000278379.9"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC1A2",
"gene_hgnc_id": 10940,
"hgvs_c": "c.1687G>A",
"hgvs_p": "p.Glu563Lys",
"transcript": "ENST00000395750.6",
"protein_id": "ENSP00000379099.2",
"transcript_support_level": 1,
"aa_start": 563,
"aa_end": null,
"aa_length": 570,
"cds_start": 1687,
"cds_end": null,
"cds_length": 1713,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000395750.6"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC1A2",
"gene_hgnc_id": 10940,
"hgvs_c": "c.1810G>A",
"hgvs_p": "p.Glu604Lys",
"transcript": "ENST00000644779.1",
"protein_id": "ENSP00000494258.1",
"transcript_support_level": null,
"aa_start": 604,
"aa_end": null,
"aa_length": 611,
"cds_start": 1810,
"cds_end": null,
"cds_length": 1836,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000644779.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC1A2",
"gene_hgnc_id": 10940,
"hgvs_c": "c.1726G>A",
"hgvs_p": "p.Glu576Lys",
"transcript": "ENST00000901507.1",
"protein_id": "ENSP00000571566.1",
"transcript_support_level": null,
"aa_start": 576,
"aa_end": null,
"aa_length": 583,
"cds_start": 1726,
"cds_end": null,
"cds_length": 1752,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901507.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC1A2",
"gene_hgnc_id": 10940,
"hgvs_c": "c.1714G>A",
"hgvs_p": "p.Glu572Lys",
"transcript": "ENST00000645303.1",
"protein_id": "ENSP00000496667.1",
"transcript_support_level": null,
"aa_start": 572,
"aa_end": null,
"aa_length": 579,
"cds_start": 1714,
"cds_end": null,
"cds_length": 1740,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000645303.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC1A2",
"gene_hgnc_id": 10940,
"hgvs_c": "c.1699G>A",
"hgvs_p": "p.Glu567Lys",
"transcript": "ENST00000901505.1",
"protein_id": "ENSP00000571564.1",
"transcript_support_level": null,
"aa_start": 567,
"aa_end": null,
"aa_length": 574,
"cds_start": 1699,
"cds_end": null,
"cds_length": 1725,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901505.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC1A2",
"gene_hgnc_id": 10940,
"hgvs_c": "c.1693G>A",
"hgvs_p": "p.Glu565Lys",
"transcript": "ENST00000901506.1",
"protein_id": "ENSP00000571565.1",
"transcript_support_level": null,
"aa_start": 565,
"aa_end": null,
"aa_length": 572,
"cds_start": 1693,
"cds_end": null,
"cds_length": 1719,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901506.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC1A2",
"gene_hgnc_id": 10940,
"hgvs_c": "c.1690G>A",
"hgvs_p": "p.Glu564Lys",
"transcript": "ENST00000646080.1",
"protein_id": "ENSP00000494113.1",
"transcript_support_level": null,
"aa_start": 564,
"aa_end": null,
"aa_length": 571,
"cds_start": 1690,
"cds_end": null,
"cds_length": 1716,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000646080.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC1A2",
"gene_hgnc_id": 10940,
"hgvs_c": "c.1687G>A",
"hgvs_p": "p.Glu563Lys",
"transcript": "NM_001439342.1",
"protein_id": "NP_001426271.1",
"transcript_support_level": null,
"aa_start": 563,
"aa_end": null,
"aa_length": 570,
"cds_start": 1687,
"cds_end": null,
"cds_length": 1713,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001439342.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC1A2",
"gene_hgnc_id": 10940,
"hgvs_c": "c.1672G>A",
"hgvs_p": "p.Glu558Lys",
"transcript": "NM_001195728.3",
"protein_id": "NP_001182657.1",
"transcript_support_level": null,
"aa_start": 558,
"aa_end": null,
"aa_length": 565,
"cds_start": 1672,
"cds_end": null,
"cds_length": 1698,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001195728.3"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC1A2",
"gene_hgnc_id": 10940,
"hgvs_c": "c.1672G>A",
"hgvs_p": "p.Glu558Lys",
"transcript": "NM_001252652.2",
"protein_id": "NP_001239581.1",
"transcript_support_level": null,
"aa_start": 558,
"aa_end": null,
"aa_length": 565,
"cds_start": 1672,
"cds_end": null,
"cds_length": 1698,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001252652.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC1A2",
"gene_hgnc_id": 10940,
"hgvs_c": "c.1672G>A",
"hgvs_p": "p.Glu558Lys",
"transcript": "NM_001439341.1",
"protein_id": "NP_001426270.1",
"transcript_support_level": null,
"aa_start": 558,
"aa_end": null,
"aa_length": 565,
"cds_start": 1672,
"cds_end": null,
"cds_length": 1698,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001439341.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC1A2",
"gene_hgnc_id": 10940,
"hgvs_c": "c.1672G>A",
"hgvs_p": "p.Glu558Lys",
"transcript": "ENST00000395753.6",
"protein_id": "ENSP00000379102.1",
"transcript_support_level": 2,
"aa_start": 558,
"aa_end": null,
"aa_length": 565,
"cds_start": 1672,
"cds_end": null,
"cds_length": 1698,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000395753.6"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC1A2",
"gene_hgnc_id": 10940,
"hgvs_c": "c.1672G>A",
"hgvs_p": "p.Glu558Lys",
"transcript": "ENST00000643000.1",
"protein_id": "ENSP00000495164.1",
"transcript_support_level": null,
"aa_start": 558,
"aa_end": null,
"aa_length": 565,
"cds_start": 1672,
"cds_end": null,
"cds_length": 1698,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000643000.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC1A2",
"gene_hgnc_id": 10940,
"hgvs_c": "c.1672G>A",
"hgvs_p": "p.Glu558Lys",
"transcript": "ENST00000644050.1",
"protein_id": "ENSP00000496123.1",
"transcript_support_level": null,
"aa_start": 558,
"aa_end": null,
"aa_length": 565,
"cds_start": 1672,
"cds_end": null,
"cds_length": 1698,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000644050.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC1A2",
"gene_hgnc_id": 10940,
"hgvs_c": "c.1672G>A",
"hgvs_p": "p.Glu558Lys",
"transcript": "ENST00000644299.1",
"protein_id": "ENSP00000494669.1",
"transcript_support_level": null,
"aa_start": 558,
"aa_end": null,
"aa_length": 565,
"cds_start": 1672,
"cds_end": null,
"cds_length": 1698,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000644299.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC1A2",
"gene_hgnc_id": 10940,
"hgvs_c": "c.1672G>A",
"hgvs_p": "p.Glu558Lys",
"transcript": "ENST00000645194.1",
"protein_id": "ENSP00000496093.1",
"transcript_support_level": null,
"aa_start": 558,
"aa_end": null,
"aa_length": 565,
"cds_start": 1672,
"cds_end": null,
"cds_length": 1698,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000645194.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC1A2",
"gene_hgnc_id": 10940,
"hgvs_c": "c.1672G>A",
"hgvs_p": "p.Glu558Lys",
"transcript": "ENST00000645634.1",
"protein_id": "ENSP00000493945.1",
"transcript_support_level": null,
"aa_start": 558,
"aa_end": null,
"aa_length": 565,
"cds_start": 1672,
"cds_end": null,
"cds_length": 1698,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000645634.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC1A2",
"gene_hgnc_id": 10940,
"hgvs_c": "c.1672G>A",
"hgvs_p": "p.Glu558Lys",
"transcript": "ENST00000647104.1",
"protein_id": "ENSP00000494025.1",
"transcript_support_level": null,
"aa_start": 558,
"aa_end": null,
"aa_length": 565,
"cds_start": 1672,
"cds_end": null,
"cds_length": 1698,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000647104.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC1A2",
"gene_hgnc_id": 10940,
"hgvs_c": "c.1564G>A",
"hgvs_p": "p.Glu522Lys",
"transcript": "ENST00000901504.1",
"protein_id": "ENSP00000571563.1",
"transcript_support_level": null,
"aa_start": 522,
"aa_end": null,
"aa_length": 529,
"cds_start": 1564,
"cds_end": null,
"cds_length": 1590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901504.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC1A2",
"gene_hgnc_id": 10940,
"hgvs_c": "c.1465G>A",
"hgvs_p": "p.Glu489Lys",
"transcript": "NM_001439343.1",
"protein_id": "NP_001426272.1",
"transcript_support_level": null,
"aa_start": 489,
"aa_end": null,
"aa_length": 496,
"cds_start": 1465,
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"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000844195.1"
},
{
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SLC1A2-AS1",
"gene_hgnc_id": 40534,
"hgvs_c": "n.328+22526C>T",
"hgvs_p": null,
"transcript": "ENST00000844196.1",
"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": "ENST00000844196.1"
}
],
"gene_symbol": "SLC1A2",
"gene_hgnc_id": 10940,
"dbsnp": null,
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.26875919103622437,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.15000000596046448,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.149,
"revel_prediction": "Benign",
"alphamissense_score": 0.1779,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.26,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.8,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.15,
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_004171.4",
"gene_symbol": "SLC1A2",
"hgnc_id": 10940,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.1699G>A",
"hgvs_p": "p.Glu567Lys"
},
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000844197.1",
"gene_symbol": "SLC1A2-AS1",
"hgnc_id": 40534,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.432C>T",
"hgvs_p": null
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}