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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: 12-122340866-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=122340866&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 122340866,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000620786.5",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLIP1",
"gene_hgnc_id": 10461,
"hgvs_c": "c.2338C>T",
"hgvs_p": "p.Arg780Trp",
"transcript": "NM_001247997.2",
"protein_id": "NP_001234926.1",
"transcript_support_level": null,
"aa_start": 780,
"aa_end": null,
"aa_length": 1438,
"cds_start": 2338,
"cds_end": null,
"cds_length": 4317,
"cdna_start": 2593,
"cdna_end": null,
"cdna_length": 5978,
"mane_select": "ENST00000620786.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLIP1",
"gene_hgnc_id": 10461,
"hgvs_c": "c.2338C>T",
"hgvs_p": "p.Arg780Trp",
"transcript": "ENST00000620786.5",
"protein_id": "ENSP00000479322.1",
"transcript_support_level": 5,
"aa_start": 780,
"aa_end": null,
"aa_length": 1438,
"cds_start": 2338,
"cds_end": null,
"cds_length": 4317,
"cdna_start": 2593,
"cdna_end": null,
"cdna_length": 5978,
"mane_select": "NM_001247997.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLIP1",
"gene_hgnc_id": 10461,
"hgvs_c": "c.2305C>T",
"hgvs_p": "p.Arg769Trp",
"transcript": "ENST00000358808.6",
"protein_id": "ENSP00000351665.2",
"transcript_support_level": 1,
"aa_start": 769,
"aa_end": null,
"aa_length": 1427,
"cds_start": 2305,
"cds_end": null,
"cds_length": 4284,
"cdna_start": 2460,
"cdna_end": null,
"cdna_length": 5880,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLIP1",
"gene_hgnc_id": 10461,
"hgvs_c": "c.2200C>T",
"hgvs_p": "p.Arg734Trp",
"transcript": "ENST00000537178.5",
"protein_id": "ENSP00000445531.1",
"transcript_support_level": 1,
"aa_start": 734,
"aa_end": null,
"aa_length": 1392,
"cds_start": 2200,
"cds_end": null,
"cds_length": 4179,
"cdna_start": 2418,
"cdna_end": null,
"cdna_length": 5229,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLIP1",
"gene_hgnc_id": 10461,
"hgvs_c": "c.2200C>T",
"hgvs_p": "p.Arg734Trp",
"transcript": "NM_001389291.1",
"protein_id": "NP_001376220.1",
"transcript_support_level": null,
"aa_start": 734,
"aa_end": null,
"aa_length": 2148,
"cds_start": 2200,
"cds_end": null,
"cds_length": 6447,
"cdna_start": 2455,
"cdna_end": null,
"cdna_length": 8108,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLIP1",
"gene_hgnc_id": 10461,
"hgvs_c": "c.2305C>T",
"hgvs_p": "p.Arg769Trp",
"transcript": "NM_002956.3",
"protein_id": "NP_002947.1",
"transcript_support_level": null,
"aa_start": 769,
"aa_end": null,
"aa_length": 1427,
"cds_start": 2305,
"cds_end": null,
"cds_length": 4284,
"cdna_start": 2560,
"cdna_end": null,
"cdna_length": 5945,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLIP1",
"gene_hgnc_id": 10461,
"hgvs_c": "c.2305C>T",
"hgvs_p": "p.Arg769Trp",
"transcript": "ENST00000302528.11",
"protein_id": "ENSP00000303585.7",
"transcript_support_level": 5,
"aa_start": 769,
"aa_end": null,
"aa_length": 1427,
"cds_start": 2305,
"cds_end": null,
"cds_length": 4284,
"cdna_start": 2413,
"cdna_end": null,
"cdna_length": 5833,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLIP1",
"gene_hgnc_id": 10461,
"hgvs_c": "c.2200C>T",
"hgvs_p": "p.Arg734Trp",
"transcript": "NM_198240.3",
"protein_id": "NP_937883.1",
"transcript_support_level": null,
"aa_start": 734,
"aa_end": null,
"aa_length": 1392,
"cds_start": 2200,
"cds_end": null,
"cds_length": 4179,
"cdna_start": 2455,
"cdna_end": null,
"cdna_length": 5840,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLIP1",
"gene_hgnc_id": 10461,
"hgvs_c": "c.391C>T",
"hgvs_p": "p.Arg131Trp",
"transcript": "ENST00000648993.1",
"protein_id": "ENSP00000497665.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 791,
"cds_start": 391,
"cds_end": null,
"cds_length": 2376,
"cdna_start": 391,
"cdna_end": null,
"cdna_length": 2590,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLIP1",
"gene_hgnc_id": 10461,
"hgvs_c": "c.2338C>T",
"hgvs_p": "p.Arg780Trp",
"transcript": "XM_005253593.4",
"protein_id": "XP_005253650.1",
"transcript_support_level": null,
"aa_start": 780,
"aa_end": null,
"aa_length": 1440,
"cds_start": 2338,
"cds_end": null,
"cds_length": 4323,
"cdna_start": 2593,
"cdna_end": null,
"cdna_length": 5984,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLIP1",
"gene_hgnc_id": 10461,
"hgvs_c": "c.2338C>T",
"hgvs_p": "p.Arg780Trp",
"transcript": "XM_047429307.1",
"protein_id": "XP_047285263.1",
"transcript_support_level": null,
"aa_start": 780,
"aa_end": null,
"aa_length": 1440,
"cds_start": 2338,
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"cds_length": 4323,
"cdna_start": 2916,
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"cdna_length": 6307,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLIP1",
"gene_hgnc_id": 10461,
"hgvs_c": "c.2305C>T",
"hgvs_p": "p.Arg769Trp",
"transcript": "XM_006719552.5",
"protein_id": "XP_006719615.1",
"transcript_support_level": null,
"aa_start": 769,
"aa_end": null,
"aa_length": 1429,
"cds_start": 2305,
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"cds_length": 4290,
"cdna_start": 2560,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLIP1",
"gene_hgnc_id": 10461,
"hgvs_c": "c.2305C>T",
"hgvs_p": "p.Arg769Trp",
"transcript": "XM_047429309.1",
"protein_id": "XP_047285265.1",
"transcript_support_level": null,
"aa_start": 769,
"aa_end": null,
"aa_length": 1429,
"cds_start": 2305,
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"cdna_start": 3234,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 10,
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"exon_count": 25,
"intron_rank": null,
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"gene_symbol": "CLIP1",
"gene_hgnc_id": 10461,
"hgvs_c": "c.2305C>T",
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"transcript": "XM_047429310.1",
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLIP1",
"gene_hgnc_id": 10461,
"hgvs_c": "c.2233C>T",
"hgvs_p": "p.Arg745Trp",
"transcript": "XM_047429311.1",
"protein_id": "XP_047285267.1",
"transcript_support_level": null,
"aa_start": 745,
"aa_end": null,
"aa_length": 1405,
"cds_start": 2233,
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"cdna_start": 2811,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
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"gene_symbol": "CLIP1",
"gene_hgnc_id": 10461,
"hgvs_c": "c.2233C>T",
"hgvs_p": "p.Arg745Trp",
"transcript": "XM_047429312.1",
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},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLIP1",
"gene_hgnc_id": 10461,
"hgvs_c": "c.2233C>T",
"hgvs_p": "p.Arg745Trp",
"transcript": "XM_047429313.1",
"protein_id": "XP_047285269.1",
"transcript_support_level": null,
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"cds_start": 2233,
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"cdna_start": 2488,
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"mane_select": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLIP1",
"gene_hgnc_id": 10461,
"hgvs_c": "c.2200C>T",
"hgvs_p": "p.Arg734Trp",
"transcript": "XM_017019788.3",
"protein_id": "XP_016875277.1",
"transcript_support_level": null,
"aa_start": 734,
"aa_end": null,
"aa_length": 1394,
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 9,
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"exon_count": 25,
"intron_rank": null,
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"gene_symbol": "CLIP1",
"gene_hgnc_id": 10461,
"hgvs_c": "c.2200C>T",
"hgvs_p": "p.Arg734Trp",
"transcript": "XM_017019789.2",
"protein_id": "XP_016875278.1",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 9,
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"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLIP1",
"gene_hgnc_id": 10461,
"hgvs_c": "c.2200C>T",
"hgvs_p": "p.Arg734Trp",
"transcript": "XM_047429314.1",
"protein_id": "XP_047285270.1",
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},
{
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"protein_coding": true,
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"consequences": [
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],
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"intron_rank": null,
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"gene_symbol": "CLIP1",
"gene_hgnc_id": 10461,
"hgvs_c": "c.2200C>T",
"hgvs_p": "p.Arg734Trp",
"transcript": "XM_047429315.1",
"protein_id": "XP_047285271.1",
"transcript_support_level": null,
"aa_start": 734,
"aa_end": null,
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"cds_start": 2200,
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"cdna_start": 2778,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLIP1",
"gene_hgnc_id": 10461,
"hgvs_c": "c.2200C>T",
"hgvs_p": "p.Arg734Trp",
"transcript": "XM_047429316.1",
"protein_id": "XP_047285272.1",
"transcript_support_level": null,
"aa_start": 734,
"aa_end": null,
"aa_length": 1392,
"cds_start": 2200,
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"cdna_start": 3129,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
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}
],
"gene_symbol": "CLIP1",
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"hom_count_reference_population": 8,
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"computational_prediction_selected": "Benign",
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"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.053,
"revel_prediction": "Benign",
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"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.44,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.153,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": null,
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"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -9,
"acmg_classification": "Benign",
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"acmg_by_gene": [
{
"score": -9,
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"criteria": [
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"BP6",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000620786.5",
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"effects": [
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],
"inheritance_mode": "AR",
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],
"clinvar_disease": "not provided,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:1",
"phenotype_combined": "not specified|not provided",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}