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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: 16-15737471-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=15737471&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 15737471,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001040114.2",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH11",
"gene_hgnc_id": 7569,
"hgvs_c": "c.3271G>A",
"hgvs_p": "p.Glu1091Lys",
"transcript": "NM_002474.3",
"protein_id": "NP_002465.1",
"transcript_support_level": null,
"aa_start": 1091,
"aa_end": null,
"aa_length": 1972,
"cds_start": 3271,
"cds_end": null,
"cds_length": 5919,
"cdna_start": 3376,
"cdna_end": null,
"cdna_length": 6880,
"mane_select": "ENST00000300036.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002474.3"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH11",
"gene_hgnc_id": 7569,
"hgvs_c": "c.3271G>A",
"hgvs_p": "p.Glu1091Lys",
"transcript": "ENST00000300036.6",
"protein_id": "ENSP00000300036.5",
"transcript_support_level": 1,
"aa_start": 1091,
"aa_end": null,
"aa_length": 1972,
"cds_start": 3271,
"cds_end": null,
"cds_length": 5919,
"cdna_start": 3376,
"cdna_end": null,
"cdna_length": 6880,
"mane_select": "NM_002474.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000300036.6"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH11",
"gene_hgnc_id": 7569,
"hgvs_c": "c.3292G>A",
"hgvs_p": "p.Glu1098Lys",
"transcript": "NM_001040113.2",
"protein_id": "NP_001035202.1",
"transcript_support_level": null,
"aa_start": 1098,
"aa_end": null,
"aa_length": 1945,
"cds_start": 3292,
"cds_end": null,
"cds_length": 5838,
"cdna_start": 3397,
"cdna_end": null,
"cdna_length": 6940,
"mane_select": null,
"mane_plus": "ENST00000452625.7",
"biotype": "protein_coding",
"feature": "NM_001040113.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH11",
"gene_hgnc_id": 7569,
"hgvs_c": "c.3292G>A",
"hgvs_p": "p.Glu1098Lys",
"transcript": "ENST00000452625.7",
"protein_id": "ENSP00000407821.2",
"transcript_support_level": 1,
"aa_start": 1098,
"aa_end": null,
"aa_length": 1945,
"cds_start": 3292,
"cds_end": null,
"cds_length": 5838,
"cdna_start": 3397,
"cdna_end": null,
"cdna_length": 6940,
"mane_select": null,
"mane_plus": "NM_001040113.2",
"biotype": "protein_coding",
"feature": "ENST00000452625.7"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH11",
"gene_hgnc_id": 7569,
"hgvs_c": "c.3292G>A",
"hgvs_p": "p.Glu1098Lys",
"transcript": "ENST00000396324.7",
"protein_id": "ENSP00000379616.3",
"transcript_support_level": 1,
"aa_start": 1098,
"aa_end": null,
"aa_length": 1979,
"cds_start": 3292,
"cds_end": null,
"cds_length": 5940,
"cdna_start": 3380,
"cdna_end": null,
"cdna_length": 6847,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000396324.7"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH11",
"gene_hgnc_id": 7569,
"hgvs_c": "c.3271G>A",
"hgvs_p": "p.Glu1091Lys",
"transcript": "ENST00000576790.7",
"protein_id": "ENSP00000458731.1",
"transcript_support_level": 1,
"aa_start": 1091,
"aa_end": null,
"aa_length": 1938,
"cds_start": 3271,
"cds_end": null,
"cds_length": 5817,
"cdna_start": 3342,
"cdna_end": null,
"cdna_length": 5907,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000576790.7"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH11",
"gene_hgnc_id": 7569,
"hgvs_c": "c.3319G>A",
"hgvs_p": "p.Glu1107Lys",
"transcript": "ENST00000911137.1",
"protein_id": "ENSP00000581196.1",
"transcript_support_level": null,
"aa_start": 1107,
"aa_end": null,
"aa_length": 1988,
"cds_start": 3319,
"cds_end": null,
"cds_length": 5967,
"cdna_start": 3426,
"cdna_end": null,
"cdna_length": 6139,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911137.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH11",
"gene_hgnc_id": 7569,
"hgvs_c": "c.3271G>A",
"hgvs_p": "p.Glu1091Lys",
"transcript": "ENST00000911136.1",
"protein_id": "ENSP00000581195.1",
"transcript_support_level": null,
"aa_start": 1091,
"aa_end": null,
"aa_length": 1985,
"cds_start": 3271,
"cds_end": null,
"cds_length": 5958,
"cdna_start": 3378,
"cdna_end": null,
"cdna_length": 6130,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911136.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH11",
"gene_hgnc_id": 7569,
"hgvs_c": "c.3298G>A",
"hgvs_p": "p.Glu1100Lys",
"transcript": "ENST00000963704.1",
"protein_id": "ENSP00000633763.1",
"transcript_support_level": null,
"aa_start": 1100,
"aa_end": null,
"aa_length": 1981,
"cds_start": 3298,
"cds_end": null,
"cds_length": 5946,
"cdna_start": 3402,
"cdna_end": null,
"cdna_length": 6078,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963704.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH11",
"gene_hgnc_id": 7569,
"hgvs_c": "c.3292G>A",
"hgvs_p": "p.Glu1098Lys",
"transcript": "NM_001040114.2",
"protein_id": "NP_001035203.1",
"transcript_support_level": null,
"aa_start": 1098,
"aa_end": null,
"aa_length": 1979,
"cds_start": 3292,
"cds_end": null,
"cds_length": 5940,
"cdna_start": 3397,
"cdna_end": null,
"cdna_length": 6901,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001040114.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH11",
"gene_hgnc_id": 7569,
"hgvs_c": "c.3292G>A",
"hgvs_p": "p.Glu1098Lys",
"transcript": "ENST00000911133.1",
"protein_id": "ENSP00000581192.1",
"transcript_support_level": null,
"aa_start": 1098,
"aa_end": null,
"aa_length": 1977,
"cds_start": 3292,
"cds_end": null,
"cds_length": 5934,
"cdna_start": 3399,
"cdna_end": null,
"cdna_length": 6890,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911133.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH11",
"gene_hgnc_id": 7569,
"hgvs_c": "c.3271G>A",
"hgvs_p": "p.Glu1091Lys",
"transcript": "ENST00000713757.1",
"protein_id": "ENSP00000519058.1",
"transcript_support_level": null,
"aa_start": 1091,
"aa_end": null,
"aa_length": 1972,
"cds_start": 3271,
"cds_end": null,
"cds_length": 5919,
"cdna_start": 3505,
"cdna_end": null,
"cdna_length": 7006,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000713757.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH11",
"gene_hgnc_id": 7569,
"hgvs_c": "c.3271G>A",
"hgvs_p": "p.Glu1091Lys",
"transcript": "ENST00000911134.1",
"protein_id": "ENSP00000581193.1",
"transcript_support_level": null,
"aa_start": 1091,
"aa_end": null,
"aa_length": 1972,
"cds_start": 3271,
"cds_end": null,
"cds_length": 5919,
"cdna_start": 3622,
"cdna_end": null,
"cdna_length": 6335,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911134.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH11",
"gene_hgnc_id": 7569,
"hgvs_c": "c.3271G>A",
"hgvs_p": "p.Glu1091Lys",
"transcript": "ENST00000911140.1",
"protein_id": "ENSP00000581199.1",
"transcript_support_level": null,
"aa_start": 1091,
"aa_end": null,
"aa_length": 1972,
"cds_start": 3271,
"cds_end": null,
"cds_length": 5919,
"cdna_start": 3580,
"cdna_end": null,
"cdna_length": 7084,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911140.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH11",
"gene_hgnc_id": 7569,
"hgvs_c": "c.3271G>A",
"hgvs_p": "p.Glu1091Lys",
"transcript": "ENST00000963701.1",
"protein_id": "ENSP00000633760.1",
"transcript_support_level": null,
"aa_start": 1091,
"aa_end": null,
"aa_length": 1972,
"cds_start": 3271,
"cds_end": null,
"cds_length": 5919,
"cdna_start": 3394,
"cdna_end": null,
"cdna_length": 6894,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963701.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH11",
"gene_hgnc_id": 7569,
"hgvs_c": "c.3244G>A",
"hgvs_p": "p.Glu1082Lys",
"transcript": "ENST00000963702.1",
"protein_id": "ENSP00000633761.1",
"transcript_support_level": null,
"aa_start": 1082,
"aa_end": null,
"aa_length": 1963,
"cds_start": 3244,
"cds_end": null,
"cds_length": 5892,
"cdna_start": 3352,
"cdna_end": null,
"cdna_length": 6856,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963702.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH11",
"gene_hgnc_id": 7569,
"hgvs_c": "c.3178G>A",
"hgvs_p": "p.Glu1060Lys",
"transcript": "ENST00000911139.1",
"protein_id": "ENSP00000581198.1",
"transcript_support_level": null,
"aa_start": 1060,
"aa_end": null,
"aa_length": 1941,
"cds_start": 3178,
"cds_end": null,
"cds_length": 5826,
"cdna_start": 3285,
"cdna_end": null,
"cdna_length": 5998,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911139.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH11",
"gene_hgnc_id": 7569,
"hgvs_c": "c.3178G>A",
"hgvs_p": "p.Glu1060Lys",
"transcript": "ENST00000963703.1",
"protein_id": "ENSP00000633762.1",
"transcript_support_level": null,
"aa_start": 1060,
"aa_end": null,
"aa_length": 1941,
"cds_start": 3178,
"cds_end": null,
"cds_length": 5826,
"cdna_start": 3283,
"cdna_end": null,
"cdna_length": 5959,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963703.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH11",
"gene_hgnc_id": 7569,
"hgvs_c": "c.3175G>A",
"hgvs_p": "p.Glu1059Lys",
"transcript": "ENST00000911138.1",
"protein_id": "ENSP00000581197.1",
"transcript_support_level": null,
"aa_start": 1059,
"aa_end": null,
"aa_length": 1940,
"cds_start": 3175,
"cds_end": null,
"cds_length": 5823,
"cdna_start": 3282,
"cdna_end": null,
"cdna_length": 5995,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911138.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH11",
"gene_hgnc_id": 7569,
"hgvs_c": "c.3271G>A",
"hgvs_p": "p.Glu1091Lys",
"transcript": "NM_022844.3",
"protein_id": "NP_074035.1",
"transcript_support_level": null,
"aa_start": 1091,
"aa_end": null,
"aa_length": 1938,
"cds_start": 3271,
"cds_end": null,
"cds_length": 5817,
"cdna_start": 3376,
"cdna_end": null,
"cdna_length": 6919,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_022844.3"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH11",
"gene_hgnc_id": 7569,
"hgvs_c": "c.3097G>A",
"hgvs_p": "p.Glu1033Lys",
"transcript": "ENST00000911135.1",
"protein_id": "ENSP00000581194.1",
"transcript_support_level": null,
"aa_start": 1033,
"aa_end": null,
"aa_length": 1914,
"cds_start": 3097,
"cds_end": null,
"cds_length": 5745,
"cdna_start": 3204,
"cdna_end": null,
"cdna_length": 5917,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911135.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH11",
"gene_hgnc_id": 7569,
"hgvs_c": "n.*1454G>A",
"hgvs_p": null,
"transcript": "ENST00000652121.1",
"protein_id": "ENSP00000498314.1",
"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": 6126,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000652121.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH11",
"gene_hgnc_id": 7569,
"hgvs_c": "n.*1454G>A",
"hgvs_p": null,
"transcript": "ENST00000652121.1",
"protein_id": "ENSP00000498314.1",
"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": 6126,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000652121.1"
}
],
"gene_symbol": "MYH11",
"gene_hgnc_id": 7569,
"dbsnp": "rs201443445",
"frequency_reference_population": 6.8456393e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84564e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9068253040313721,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.934,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.823,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.27,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.848,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0,
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001040114.2",
"gene_symbol": "MYH11",
"hgnc_id": 7569,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR,Unknown",
"hgvs_c": "c.3292G>A",
"hgvs_p": "p.Glu1098Lys"
}
],
"clinvar_disease": " familial thoracic 4,Aortic aneurysm,Familial thoracic aortic aneurysm and aortic dissection",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "Aortic aneurysm, familial thoracic 4|Familial thoracic aortic aneurysm and aortic dissection",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}