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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: 11-95831044-GAGAAGCAGA-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=95831044&ref=GAGAAGCAGA&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 95831044,
"ref": "GAGAAGCAGA",
"alt": "G",
"effect": "conservative_inframe_deletion",
"transcript": "ENST00000325542.10",
"consequences": [
{
"aa_ref": "QKK",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP57",
"gene_hgnc_id": 30794,
"hgvs_c": "c.1297_1305delCAGAAGAAG",
"hgvs_p": "p.Gln433_Lys435del",
"transcript": "NM_014679.5",
"protein_id": "NP_055494.2",
"transcript_support_level": null,
"aa_start": 433,
"aa_end": null,
"aa_length": 500,
"cds_start": 1297,
"cds_end": null,
"cds_length": 1503,
"cdna_start": 1498,
"cdna_end": null,
"cdna_length": 3141,
"mane_select": "ENST00000325542.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QKK",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP57",
"gene_hgnc_id": 30794,
"hgvs_c": "c.1297_1305delCAGAAGAAG",
"hgvs_p": "p.Gln433_Lys435del",
"transcript": "ENST00000325542.10",
"protein_id": "ENSP00000317902.5",
"transcript_support_level": 1,
"aa_start": 433,
"aa_end": null,
"aa_length": 500,
"cds_start": 1297,
"cds_end": null,
"cds_length": 1503,
"cdna_start": 1498,
"cdna_end": null,
"cdna_length": 3141,
"mane_select": "NM_014679.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QKK",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP57",
"gene_hgnc_id": 30794,
"hgvs_c": "c.1219_1227delCAGAAGAAG",
"hgvs_p": "p.Gln407_Lys409del",
"transcript": "ENST00000325486.9",
"protein_id": "ENSP00000317487.5",
"transcript_support_level": 1,
"aa_start": 407,
"aa_end": null,
"aa_length": 474,
"cds_start": 1219,
"cds_end": null,
"cds_length": 1425,
"cdna_start": 1457,
"cdna_end": null,
"cdna_length": 3098,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP57",
"gene_hgnc_id": 30794,
"hgvs_c": "n.*1061_*1069delCAGAAGAAG",
"hgvs_p": null,
"transcript": "ENST00000540830.5",
"protein_id": "ENSP00000440996.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1936,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP57",
"gene_hgnc_id": 30794,
"hgvs_c": "n.*1061_*1069delCAGAAGAAG",
"hgvs_p": null,
"transcript": "ENST00000540830.5",
"protein_id": "ENSP00000440996.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1936,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QKK",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP57",
"gene_hgnc_id": 30794,
"hgvs_c": "c.1270_1278delCAGAAGAAG",
"hgvs_p": "p.Gln424_Lys426del",
"transcript": "NM_001243776.2",
"protein_id": "NP_001230705.1",
"transcript_support_level": null,
"aa_start": 424,
"aa_end": null,
"aa_length": 491,
"cds_start": 1270,
"cds_end": null,
"cds_length": 1476,
"cdna_start": 1542,
"cdna_end": null,
"cdna_length": 3185,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QKK",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP57",
"gene_hgnc_id": 30794,
"hgvs_c": "c.1270_1278delCAGAAGAAG",
"hgvs_p": "p.Gln424_Lys426del",
"transcript": "ENST00000541150.5",
"protein_id": "ENSP00000443436.1",
"transcript_support_level": 5,
"aa_start": 424,
"aa_end": null,
"aa_length": 491,
"cds_start": 1270,
"cds_end": null,
"cds_length": 1476,
"cdna_start": 1270,
"cdna_end": null,
"cdna_length": 2911,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QKK",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP57",
"gene_hgnc_id": 30794,
"hgvs_c": "c.1219_1227delCAGAAGAAG",
"hgvs_p": "p.Gln407_Lys409del",
"transcript": "NM_001243777.2",
"protein_id": "NP_001230706.1",
"transcript_support_level": null,
"aa_start": 407,
"aa_end": null,
"aa_length": 474,
"cds_start": 1219,
"cds_end": null,
"cds_length": 1425,
"cdna_start": 1420,
"cdna_end": null,
"cdna_length": 3063,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QKK",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP57",
"gene_hgnc_id": 30794,
"hgvs_c": "c.1216_1224delCAGAAGAAG",
"hgvs_p": "p.Gln406_Lys408del",
"transcript": "NM_001363604.2",
"protein_id": "NP_001350533.1",
"transcript_support_level": null,
"aa_start": 406,
"aa_end": null,
"aa_length": 473,
"cds_start": 1216,
"cds_end": null,
"cds_length": 1422,
"cdna_start": 1811,
"cdna_end": null,
"cdna_length": 3454,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QKK",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP57",
"gene_hgnc_id": 30794,
"hgvs_c": "c.1216_1224delCAGAAGAAG",
"hgvs_p": "p.Gln406_Lys408del",
"transcript": "NM_001440869.1",
"protein_id": "NP_001427798.1",
"transcript_support_level": null,
"aa_start": 406,
"aa_end": null,
"aa_length": 473,
"cds_start": 1216,
"cds_end": null,
"cds_length": 1422,
"cdna_start": 1381,
"cdna_end": null,
"cdna_length": 3024,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QKK",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP57",
"gene_hgnc_id": 30794,
"hgvs_c": "c.1216_1224delCAGAAGAAG",
"hgvs_p": "p.Gln406_Lys408del",
"transcript": "NM_001440870.1",
"protein_id": "NP_001427799.1",
"transcript_support_level": null,
"aa_start": 406,
"aa_end": null,
"aa_length": 473,
"cds_start": 1216,
"cds_end": null,
"cds_length": 1422,
"cdna_start": 1493,
"cdna_end": null,
"cdna_length": 3136,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QKK",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP57",
"gene_hgnc_id": 30794,
"hgvs_c": "c.1216_1224delCAGAAGAAG",
"hgvs_p": "p.Gln406_Lys408del",
"transcript": "ENST00000537677.5",
"protein_id": "ENSP00000441392.1",
"transcript_support_level": 5,
"aa_start": 406,
"aa_end": null,
"aa_length": 473,
"cds_start": 1216,
"cds_end": null,
"cds_length": 1422,
"cdna_start": 1430,
"cdna_end": null,
"cdna_length": 1647,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QKK",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP57",
"gene_hgnc_id": 30794,
"hgvs_c": "c.1189_1197delCAGAAGAAG",
"hgvs_p": "p.Gln397_Lys399del",
"transcript": "NM_001440871.1",
"protein_id": "NP_001427800.1",
"transcript_support_level": null,
"aa_start": 397,
"aa_end": null,
"aa_length": 464,
"cds_start": 1189,
"cds_end": null,
"cds_length": 1395,
"cdna_start": 1390,
"cdna_end": null,
"cdna_length": 3033,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QKK",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP57",
"gene_hgnc_id": 30794,
"hgvs_c": "c.1180_1188delCAGAAGAAG",
"hgvs_p": "p.Gln394_Lys396del",
"transcript": "NM_001440872.1",
"protein_id": "NP_001427801.1",
"transcript_support_level": null,
"aa_start": 394,
"aa_end": null,
"aa_length": 461,
"cds_start": 1180,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 1381,
"cdna_end": null,
"cdna_length": 3024,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QKK",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP57",
"gene_hgnc_id": 30794,
"hgvs_c": "c.1117_1125delCAGAAGAAG",
"hgvs_p": "p.Gln373_Lys375del",
"transcript": "NM_001440873.1",
"protein_id": "NP_001427802.1",
"transcript_support_level": null,
"aa_start": 373,
"aa_end": null,
"aa_length": 440,
"cds_start": 1117,
"cds_end": null,
"cds_length": 1323,
"cdna_start": 1318,
"cdna_end": null,
"cdna_length": 2961,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QKK",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP57",
"gene_hgnc_id": 30794,
"hgvs_c": "c.1111_1119delCAGAAGAAG",
"hgvs_p": "p.Gln371_Lys373del",
"transcript": "NM_001440874.1",
"protein_id": "NP_001427803.1",
"transcript_support_level": null,
"aa_start": 371,
"aa_end": null,
"aa_length": 438,
"cds_start": 1111,
"cds_end": null,
"cds_length": 1317,
"cdna_start": 1312,
"cdna_end": null,
"cdna_length": 2955,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QKK",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP57",
"gene_hgnc_id": 30794,
"hgvs_c": "c.1108_1116delCAGAAGAAG",
"hgvs_p": "p.Gln370_Lys372del",
"transcript": "NM_001440875.1",
"protein_id": "NP_001427804.1",
"transcript_support_level": null,
"aa_start": 370,
"aa_end": null,
"aa_length": 437,
"cds_start": 1108,
"cds_end": null,
"cds_length": 1314,
"cdna_start": 1385,
"cdna_end": null,
"cdna_length": 3028,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QKK",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP57",
"gene_hgnc_id": 30794,
"hgvs_c": "c.1102_1110delCAGAAGAAG",
"hgvs_p": "p.Gln368_Lys370del",
"transcript": "NM_001440876.1",
"protein_id": "NP_001427805.1",
"transcript_support_level": null,
"aa_start": 368,
"aa_end": null,
"aa_length": 435,
"cds_start": 1102,
"cds_end": null,
"cds_length": 1308,
"cdna_start": 1303,
"cdna_end": null,
"cdna_length": 2946,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QKK",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP57",
"gene_hgnc_id": 30794,
"hgvs_c": "c.1099_1107delCAGAAGAAG",
"hgvs_p": "p.Gln367_Lys369del",
"transcript": "NM_001440877.1",
"protein_id": "NP_001427806.1",
"transcript_support_level": null,
"aa_start": 367,
"aa_end": null,
"aa_length": 434,
"cds_start": 1099,
"cds_end": null,
"cds_length": 1305,
"cdna_start": 1694,
"cdna_end": null,
"cdna_length": 3337,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QKK",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP57",
"gene_hgnc_id": 30794,
"hgvs_c": "c.1099_1107delCAGAAGAAG",
"hgvs_p": "p.Gln367_Lys369del",
"transcript": "NM_001440878.1",
"protein_id": "NP_001427807.1",
"transcript_support_level": null,
"aa_start": 367,
"aa_end": null,
"aa_length": 434,
"cds_start": 1099,
"cds_end": null,
"cds_length": 1305,
"cdna_start": 1376,
"cdna_end": null,
"cdna_length": 3019,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QKK",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP57",
"gene_hgnc_id": 30794,
"hgvs_c": "c.1072_1080delCAGAAGAAG",
"hgvs_p": "p.Gln358_Lys360del",
"transcript": "NM_001440879.1",
"protein_id": "NP_001427808.1",
"transcript_support_level": null,
"aa_start": 358,
"aa_end": null,
"aa_length": 425,
"cds_start": 1072,
"cds_end": null,
"cds_length": 1278,
"cdna_start": 1273,
"cdna_end": null,
"cdna_length": 2916,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QKK",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP57",
"gene_hgnc_id": 30794,
"hgvs_c": "c.1036_1044delCAGAAGAAG",
"hgvs_p": "p.Gln346_Lys348del",
"transcript": "NM_001440880.1",
"protein_id": "NP_001427809.1",
"transcript_support_level": null,
"aa_start": 346,
"aa_end": null,
"aa_length": 413,
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}
],
"gene_symbol": "CEP57",
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"dbsnp": "rs761197192",
"frequency_reference_population": 0.000013027408,
"hom_count_reference_population": 0,
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"gnomad_exomes_ac": 20,
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"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
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"alphamissense_score": null,
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"bayesdelnoaf_score": null,
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"phylop100way_score": 4.887,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
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"apogee2_score": null,
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"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM4",
"acmg_by_gene": [
{
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"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
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],
"verdict": "Uncertain_significance",
"transcript": "ENST00000325542.10",
"gene_symbol": "CEP57",
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"effects": [
"conservative_inframe_deletion"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.1297_1305delCAGAAGAAG",
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},
{
"score": 0,
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"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "ENST00000675896.1",
"gene_symbol": "MTMR2",
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"effects": [
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],
"inheritance_mode": "AR",
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}
],
"clinvar_disease": "Mosaic variegated aneuploidy syndrome 2",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Mosaic variegated aneuploidy syndrome 2",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}