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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: 17-68524063-CTG-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=68524063&ref=CTG&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 68524063,
"ref": "CTG",
"alt": "C",
"effect": "frameshift_variant",
"transcript": "ENST00000589228.6",
"consequences": [
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAR1A",
"gene_hgnc_id": 9388,
"hgvs_c": "c.491_492delTG",
"hgvs_p": "p.Val164fs",
"transcript": "NM_002734.5",
"protein_id": "NP_002725.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 381,
"cds_start": 491,
"cds_end": null,
"cds_length": 1146,
"cdna_start": 616,
"cdna_end": null,
"cdna_length": 4253,
"mane_select": "ENST00000589228.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAR1A",
"gene_hgnc_id": 9388,
"hgvs_c": "c.491_492delTG",
"hgvs_p": "p.Val164fs",
"transcript": "ENST00000589228.6",
"protein_id": "ENSP00000464977.2",
"transcript_support_level": 1,
"aa_start": 164,
"aa_end": null,
"aa_length": 381,
"cds_start": 491,
"cds_end": null,
"cds_length": 1146,
"cdna_start": 616,
"cdna_end": null,
"cdna_length": 4253,
"mane_select": "NM_002734.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAR1A",
"gene_hgnc_id": 9388,
"hgvs_c": "c.491_492delTG",
"hgvs_p": "p.Val164fs",
"transcript": "ENST00000358598.6",
"protein_id": "ENSP00000351410.1",
"transcript_support_level": 1,
"aa_start": 164,
"aa_end": null,
"aa_length": 381,
"cds_start": 491,
"cds_end": null,
"cds_length": 1146,
"cdna_start": 608,
"cdna_end": null,
"cdna_length": 3576,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAR1A",
"gene_hgnc_id": 9388,
"hgvs_c": "c.491_492delTG",
"hgvs_p": "p.Val164fs",
"transcript": "ENST00000536854.6",
"protein_id": "ENSP00000445625.1",
"transcript_support_level": 1,
"aa_start": 164,
"aa_end": null,
"aa_length": 381,
"cds_start": 491,
"cds_end": null,
"cds_length": 1146,
"cdna_start": 729,
"cdna_end": null,
"cdna_length": 3697,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAR1A",
"gene_hgnc_id": 9388,
"hgvs_c": "c.491_492delTG",
"hgvs_p": "p.Val164fs",
"transcript": "ENST00000586397.5",
"protein_id": "ENSP00000466459.1",
"transcript_support_level": 1,
"aa_start": 164,
"aa_end": null,
"aa_length": 381,
"cds_start": 491,
"cds_end": null,
"cds_length": 1146,
"cdna_start": 1070,
"cdna_end": null,
"cdna_length": 1940,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAR1A",
"gene_hgnc_id": 9388,
"hgvs_c": "c.491_492delTG",
"hgvs_p": "p.Val164fs",
"transcript": "NM_001276289.2",
"protein_id": "NP_001263218.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 381,
"cds_start": 491,
"cds_end": null,
"cds_length": 1146,
"cdna_start": 749,
"cdna_end": null,
"cdna_length": 4386,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAR1A",
"gene_hgnc_id": 9388,
"hgvs_c": "c.491_492delTG",
"hgvs_p": "p.Val164fs",
"transcript": "NM_001278433.2",
"protein_id": "NP_001265362.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 381,
"cds_start": 491,
"cds_end": null,
"cds_length": 1146,
"cdna_start": 670,
"cdna_end": null,
"cdna_length": 4307,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAR1A",
"gene_hgnc_id": 9388,
"hgvs_c": "c.491_492delTG",
"hgvs_p": "p.Val164fs",
"transcript": "NM_001369389.1",
"protein_id": "NP_001356318.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 381,
"cds_start": 491,
"cds_end": null,
"cds_length": 1146,
"cdna_start": 773,
"cdna_end": null,
"cdna_length": 4410,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAR1A",
"gene_hgnc_id": 9388,
"hgvs_c": "c.491_492delTG",
"hgvs_p": "p.Val164fs",
"transcript": "NM_001369390.1",
"protein_id": "NP_001356319.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 381,
"cds_start": 491,
"cds_end": null,
"cds_length": 1146,
"cdna_start": 584,
"cdna_end": null,
"cdna_length": 4221,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAR1A",
"gene_hgnc_id": 9388,
"hgvs_c": "c.491_492delTG",
"hgvs_p": "p.Val164fs",
"transcript": "NM_212471.3",
"protein_id": "NP_997636.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 381,
"cds_start": 491,
"cds_end": null,
"cds_length": 1146,
"cdna_start": 640,
"cdna_end": null,
"cdna_length": 4277,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAR1A",
"gene_hgnc_id": 9388,
"hgvs_c": "c.491_492delTG",
"hgvs_p": "p.Val164fs",
"transcript": "NM_212472.2",
"protein_id": "NP_997637.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 381,
"cds_start": 491,
"cds_end": null,
"cds_length": 1146,
"cdna_start": 698,
"cdna_end": null,
"cdna_length": 4335,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAR1A",
"gene_hgnc_id": 9388,
"hgvs_c": "c.491_492delTG",
"hgvs_p": "p.Val164fs",
"transcript": "ENST00000392711.5",
"protein_id": "ENSP00000376475.1",
"transcript_support_level": 5,
"aa_start": 164,
"aa_end": null,
"aa_length": 381,
"cds_start": 491,
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"cds_length": 1146,
"cdna_start": 698,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
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"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAR1A",
"gene_hgnc_id": 9388,
"hgvs_c": "c.491_492delTG",
"hgvs_p": "p.Val164fs",
"transcript": "ENST00000585427.6",
"protein_id": "ENSP00000464715.2",
"transcript_support_level": 4,
"aa_start": 164,
"aa_end": null,
"aa_length": 381,
"cds_start": 491,
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"cdna_start": 581,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 5,
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"exon_count": 11,
"intron_rank": null,
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"gene_symbol": "PRKAR1A",
"gene_hgnc_id": 9388,
"hgvs_c": "c.491_492delTG",
"hgvs_p": "p.Val164fs",
"transcript": "ENST00000588178.6",
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"feature": null
},
{
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"strand": true,
"consequences": [
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],
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"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAR1A",
"gene_hgnc_id": 9388,
"hgvs_c": "c.491_492delTG",
"hgvs_p": "p.Val164fs",
"transcript": "ENST00000589017.6",
"protein_id": "ENSP00000465445.2",
"transcript_support_level": 3,
"aa_start": 164,
"aa_end": null,
"aa_length": 381,
"cds_start": 491,
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"cdna_start": 993,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"strand": true,
"consequences": [
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],
"exon_rank": 6,
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"intron_rank": null,
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"gene_symbol": "PRKAR1A",
"gene_hgnc_id": 9388,
"hgvs_c": "c.491_492delTG",
"hgvs_p": "p.Val164fs",
"transcript": "ENST00000589480.6",
"protein_id": "ENSP00000466649.2",
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},
{
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"strand": true,
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],
"exon_rank": 5,
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"exon_count": 10,
"intron_rank": null,
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"gene_symbol": "PRKAR1A",
"gene_hgnc_id": 9388,
"hgvs_c": "c.491_492delTG",
"hgvs_p": "p.Val164fs",
"transcript": "ENST00000592800.6",
"protein_id": "ENSP00000466314.2",
"transcript_support_level": 2,
"aa_start": 164,
"aa_end": null,
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"cds_start": 491,
"cds_end": null,
"cds_length": 1050,
"cdna_start": 655,
"cdna_end": null,
"cdna_length": 3757,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAR1A",
"gene_hgnc_id": 9388,
"hgvs_c": "c.491_492delTG",
"hgvs_p": "p.Val164fs",
"transcript": "NM_001276290.1",
"protein_id": "NP_001263219.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 337,
"cds_start": 491,
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"cds_length": 1014,
"cdna_start": 497,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"strand": true,
"consequences": [
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],
"exon_rank": 6,
"exon_rank_end": null,
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"intron_rank": null,
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"gene_symbol": "PRKAR1A",
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"hgvs_p": "p.Val164fs",
"transcript": "ENST00000585981.6",
"protein_id": "ENSP00000467311.2",
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},
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"consequences": [
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],
"exon_rank": 5,
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"exon_count": 11,
"intron_rank": null,
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"gene_symbol": "PRKAR1A",
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"hgvs_c": "c.491_492delTG",
"hgvs_p": "p.Val164fs",
"transcript": "ENST00000588188.7",
"protein_id": "ENSP00000468106.2",
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"feature": null
},
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"protein_coding": true,
"strand": true,
"consequences": [
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],
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"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAR1A",
"gene_hgnc_id": 9388,
"hgvs_c": "c.491_492delTG",
"hgvs_p": "p.Val164fs",
"transcript": "ENST00000711037.1",
"protein_id": "ENSP00000518555.1",
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"aa_start": 164,
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"aa_length": 337,
"cds_start": 491,
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"cdna_start": 583,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAR1A",
"gene_hgnc_id": 9388,
"hgvs_c": "c.491_492delTG",
"hgvs_p": "p.Val164fs",
"transcript": "XM_011524984.4",
"protein_id": "XP_011523286.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 381,
"cds_start": 491,
"cds_end": null,
"cds_length": 1146,
"cdna_start": 717,
"cdna_end": null,
"cdna_length": 4354,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAR1A",
"gene_hgnc_id": 9388,
"hgvs_c": "c.491_492delTG",
"hgvs_p": "p.Val164fs",
"transcript": "XM_047436369.1",
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"gnomad_exomes_af": 6.84096e-7,
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"criteria": [
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"PM2",
"PP5_Very_Strong"
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"verdict": "Pathogenic",
"transcript": "ENST00000589228.6",
"gene_symbol": "PRKAR1A",
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"effects": [
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"inheritance_mode": "AD",
"hgvs_c": "c.491_492delTG",
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{
"score": 10,
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],
"verdict": "Pathogenic",
"transcript": "ENST00000590353.1",
"gene_symbol": "ENSG00000267009",
"hgnc_id": null,
"effects": [
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],
"inheritance_mode": "",
"hgvs_c": "n.670_671delTG",
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}
],
"clinvar_disease": " type 1,Carney complex,Hereditary cancer-predisposing syndrome,not provided",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:4 O:1",
"phenotype_combined": "Carney complex, type 1|not provided|Hereditary cancer-predisposing syndrome",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}