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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: 17-68524954-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=68524954&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 68524954,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000589228.6",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAR1A",
"gene_hgnc_id": 9388,
"hgvs_c": "c.545C>T",
"hgvs_p": "p.Thr182Met",
"transcript": "NM_002734.5",
"protein_id": "NP_002725.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 381,
"cds_start": 545,
"cds_end": null,
"cds_length": 1146,
"cdna_start": 670,
"cdna_end": null,
"cdna_length": 4253,
"mane_select": "ENST00000589228.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAR1A",
"gene_hgnc_id": 9388,
"hgvs_c": "c.545C>T",
"hgvs_p": "p.Thr182Met",
"transcript": "ENST00000589228.6",
"protein_id": "ENSP00000464977.2",
"transcript_support_level": 1,
"aa_start": 182,
"aa_end": null,
"aa_length": 381,
"cds_start": 545,
"cds_end": null,
"cds_length": 1146,
"cdna_start": 670,
"cdna_end": null,
"cdna_length": 4253,
"mane_select": "NM_002734.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAR1A",
"gene_hgnc_id": 9388,
"hgvs_c": "c.545C>T",
"hgvs_p": "p.Thr182Met",
"transcript": "ENST00000358598.6",
"protein_id": "ENSP00000351410.1",
"transcript_support_level": 1,
"aa_start": 182,
"aa_end": null,
"aa_length": 381,
"cds_start": 545,
"cds_end": null,
"cds_length": 1146,
"cdna_start": 662,
"cdna_end": null,
"cdna_length": 3576,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAR1A",
"gene_hgnc_id": 9388,
"hgvs_c": "c.545C>T",
"hgvs_p": "p.Thr182Met",
"transcript": "ENST00000536854.6",
"protein_id": "ENSP00000445625.1",
"transcript_support_level": 1,
"aa_start": 182,
"aa_end": null,
"aa_length": 381,
"cds_start": 545,
"cds_end": null,
"cds_length": 1146,
"cdna_start": 783,
"cdna_end": null,
"cdna_length": 3697,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAR1A",
"gene_hgnc_id": 9388,
"hgvs_c": "c.545C>T",
"hgvs_p": "p.Thr182Met",
"transcript": "ENST00000586397.5",
"protein_id": "ENSP00000466459.1",
"transcript_support_level": 1,
"aa_start": 182,
"aa_end": null,
"aa_length": 381,
"cds_start": 545,
"cds_end": null,
"cds_length": 1146,
"cdna_start": 1124,
"cdna_end": null,
"cdna_length": 1940,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAR1A",
"gene_hgnc_id": 9388,
"hgvs_c": "c.545C>T",
"hgvs_p": "p.Thr182Met",
"transcript": "NM_001276289.2",
"protein_id": "NP_001263218.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 381,
"cds_start": 545,
"cds_end": null,
"cds_length": 1146,
"cdna_start": 803,
"cdna_end": null,
"cdna_length": 4386,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAR1A",
"gene_hgnc_id": 9388,
"hgvs_c": "c.545C>T",
"hgvs_p": "p.Thr182Met",
"transcript": "NM_001278433.2",
"protein_id": "NP_001265362.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 381,
"cds_start": 545,
"cds_end": null,
"cds_length": 1146,
"cdna_start": 724,
"cdna_end": null,
"cdna_length": 4307,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAR1A",
"gene_hgnc_id": 9388,
"hgvs_c": "c.545C>T",
"hgvs_p": "p.Thr182Met",
"transcript": "NM_001369389.1",
"protein_id": "NP_001356318.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 381,
"cds_start": 545,
"cds_end": null,
"cds_length": 1146,
"cdna_start": 827,
"cdna_end": null,
"cdna_length": 4410,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAR1A",
"gene_hgnc_id": 9388,
"hgvs_c": "c.545C>T",
"hgvs_p": "p.Thr182Met",
"transcript": "NM_001369390.1",
"protein_id": "NP_001356319.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 381,
"cds_start": 545,
"cds_end": null,
"cds_length": 1146,
"cdna_start": 638,
"cdna_end": null,
"cdna_length": 4221,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAR1A",
"gene_hgnc_id": 9388,
"hgvs_c": "c.545C>T",
"hgvs_p": "p.Thr182Met",
"transcript": "NM_212471.3",
"protein_id": "NP_997636.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 381,
"cds_start": 545,
"cds_end": null,
"cds_length": 1146,
"cdna_start": 694,
"cdna_end": null,
"cdna_length": 4277,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAR1A",
"gene_hgnc_id": 9388,
"hgvs_c": "c.545C>T",
"hgvs_p": "p.Thr182Met",
"transcript": "NM_212472.2",
"protein_id": "NP_997637.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 381,
"cds_start": 545,
"cds_end": null,
"cds_length": 1146,
"cdna_start": 752,
"cdna_end": null,
"cdna_length": 4335,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAR1A",
"gene_hgnc_id": 9388,
"hgvs_c": "c.545C>T",
"hgvs_p": "p.Thr182Met",
"transcript": "ENST00000392711.5",
"protein_id": "ENSP00000376475.1",
"transcript_support_level": 5,
"aa_start": 182,
"aa_end": null,
"aa_length": 381,
"cds_start": 545,
"cds_end": null,
"cds_length": 1146,
"cdna_start": 752,
"cdna_end": null,
"cdna_length": 4327,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAR1A",
"gene_hgnc_id": 9388,
"hgvs_c": "c.545C>T",
"hgvs_p": "p.Thr182Met",
"transcript": "ENST00000585427.6",
"protein_id": "ENSP00000464715.2",
"transcript_support_level": 4,
"aa_start": 182,
"aa_end": null,
"aa_length": 381,
"cds_start": 545,
"cds_end": null,
"cds_length": 1146,
"cdna_start": 635,
"cdna_end": null,
"cdna_length": 2726,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAR1A",
"gene_hgnc_id": 9388,
"hgvs_c": "c.545C>T",
"hgvs_p": "p.Thr182Met",
"transcript": "ENST00000588178.6",
"protein_id": "ENSP00000465013.2",
"transcript_support_level": 4,
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"aa_end": null,
"aa_length": 381,
"cds_start": 545,
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"cdna_start": 648,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAR1A",
"gene_hgnc_id": 9388,
"hgvs_c": "c.545C>T",
"hgvs_p": "p.Thr182Met",
"transcript": "ENST00000589017.6",
"protein_id": "ENSP00000465445.2",
"transcript_support_level": 3,
"aa_start": 182,
"aa_end": null,
"aa_length": 381,
"cds_start": 545,
"cds_end": null,
"cds_length": 1146,
"cdna_start": 1047,
"cdna_end": null,
"cdna_length": 5749,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAR1A",
"gene_hgnc_id": 9388,
"hgvs_c": "c.545C>T",
"hgvs_p": "p.Thr182Met",
"transcript": "ENST00000589480.6",
"protein_id": "ENSP00000466649.2",
"transcript_support_level": 2,
"aa_start": 182,
"aa_end": null,
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"cds_start": 545,
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"cdna_start": 755,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAR1A",
"gene_hgnc_id": 9388,
"hgvs_c": "c.545C>T",
"hgvs_p": "p.Thr182Met",
"transcript": "ENST00000592800.6",
"protein_id": "ENSP00000466314.2",
"transcript_support_level": 2,
"aa_start": 182,
"aa_end": null,
"aa_length": 349,
"cds_start": 545,
"cds_end": null,
"cds_length": 1050,
"cdna_start": 709,
"cdna_end": null,
"cdna_length": 3757,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAR1A",
"gene_hgnc_id": 9388,
"hgvs_c": "c.545C>T",
"hgvs_p": "p.Thr182Met",
"transcript": "NM_001276290.1",
"protein_id": "NP_001263219.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 337,
"cds_start": 545,
"cds_end": null,
"cds_length": 1014,
"cdna_start": 551,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAR1A",
"gene_hgnc_id": 9388,
"hgvs_c": "c.545C>T",
"hgvs_p": "p.Thr182Met",
"transcript": "ENST00000585981.6",
"protein_id": "ENSP00000467311.2",
"transcript_support_level": 5,
"aa_start": 182,
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"cds_start": 545,
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"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAR1A",
"gene_hgnc_id": 9388,
"hgvs_c": "c.545C>T",
"hgvs_p": "p.Thr182Met",
"transcript": "ENST00000588188.7",
"protein_id": "ENSP00000468106.2",
"transcript_support_level": 3,
"aa_start": 182,
"aa_end": null,
"aa_length": 337,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAR1A",
"gene_hgnc_id": 9388,
"hgvs_c": "c.545C>T",
"hgvs_p": "p.Thr182Met",
"transcript": "ENST00000711037.1",
"protein_id": "ENSP00000518555.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 337,
"cds_start": 545,
"cds_end": null,
"cds_length": 1014,
"cdna_start": 637,
"cdna_end": null,
"cdna_length": 1301,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAR1A",
"gene_hgnc_id": 9388,
"hgvs_c": "c.545C>T",
"hgvs_p": "p.Thr182Met",
"transcript": "XM_011524984.4",
"protein_id": "XP_011523286.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 381,
"cds_start": 545,
"cds_end": null,
"cds_length": 1146,
"cdna_start": 771,
"cdna_end": null,
"cdna_length": 4354,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAR1A",
"gene_hgnc_id": 9388,
"hgvs_c": "c.545C>T",
"hgvs_p": "p.Thr182Met",
"transcript": "XM_047436369.1",
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{
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}
],
"gene_symbol": "PRKAR1A",
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"dbsnp": "rs199801675",
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"hom_count_reference_population": 0,
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"gnomad_exomes_af": 0.0000123677,
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"computational_score_selected": 0.15209797024726868,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.262,
"revel_prediction": "Benign",
"alphamissense_score": 0.0538,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.13,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.941,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "ENST00000589228.6",
"gene_symbol": "PRKAR1A",
"hgnc_id": 9388,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.545C>T",
"hgvs_p": "p.Thr182Met"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000590353.1",
"gene_symbol": "ENSG00000267009",
"hgnc_id": null,
"effects": [
"downstream_gene_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.*5C>T",
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}
],
"clinvar_disease": " type 1,Acrodysostosis 1 with or without hormone resistance,Carney complex,Hereditary cancer-predisposing syndrome,PRKAR1A-related disorder,not provided,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "LP:1 US:4 LB:1",
"phenotype_combined": "not provided|Carney complex, type 1|Hereditary cancer-predisposing syndrome|not specified|Acrodysostosis 1 with or without hormone resistance|PRKAR1A-related disorder",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}