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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: 3-123629569-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=123629569&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 123629569,
"ref": "A",
"alt": "G",
"effect": "synonymous_variant",
"transcript": "ENST00000360304.8",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYLK",
"gene_hgnc_id": 7590,
"hgvs_c": "c.5019T>C",
"hgvs_p": "p.Val1673Val",
"transcript": "NM_053025.4",
"protein_id": "NP_444253.3",
"transcript_support_level": null,
"aa_start": 1673,
"aa_end": null,
"aa_length": 1914,
"cds_start": 5019,
"cds_end": null,
"cds_length": 5745,
"cdna_start": 5331,
"cdna_end": null,
"cdna_length": 10113,
"mane_select": "ENST00000360304.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYLK",
"gene_hgnc_id": 7590,
"hgvs_c": "c.5019T>C",
"hgvs_p": "p.Val1673Val",
"transcript": "ENST00000360304.8",
"protein_id": "ENSP00000353452.3",
"transcript_support_level": 5,
"aa_start": 1673,
"aa_end": null,
"aa_length": 1914,
"cds_start": 5019,
"cds_end": null,
"cds_length": 5745,
"cdna_start": 5331,
"cdna_end": null,
"cdna_length": 10113,
"mane_select": "NM_053025.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYLK",
"gene_hgnc_id": 7590,
"hgvs_c": "n.*4598T>C",
"hgvs_p": null,
"transcript": "ENST00000464489.5",
"protein_id": "ENSP00000417798.1",
"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": 5901,
"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": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYLK-AS1",
"gene_hgnc_id": 42440,
"hgvs_c": "n.349A>G",
"hgvs_p": null,
"transcript": "ENST00000470449.3",
"protein_id": null,
"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": 1378,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYLK",
"gene_hgnc_id": 7590,
"hgvs_c": "n.*4598T>C",
"hgvs_p": null,
"transcript": "ENST00000464489.5",
"protein_id": "ENSP00000417798.1",
"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": 5901,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYLK",
"gene_hgnc_id": 7590,
"hgvs_c": "c.5049T>C",
"hgvs_p": "p.Val1683Val",
"transcript": "ENST00000687848.1",
"protein_id": "ENSP00000508761.1",
"transcript_support_level": null,
"aa_start": 1683,
"aa_end": null,
"aa_length": 1924,
"cds_start": 5049,
"cds_end": null,
"cds_length": 5775,
"cdna_start": 5211,
"cdna_end": null,
"cdna_length": 5956,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYLK",
"gene_hgnc_id": 7590,
"hgvs_c": "c.5019T>C",
"hgvs_p": "p.Val1673Val",
"transcript": "ENST00000686761.1",
"protein_id": "ENSP00000508758.1",
"transcript_support_level": null,
"aa_start": 1673,
"aa_end": null,
"aa_length": 1914,
"cds_start": 5019,
"cds_end": null,
"cds_length": 5745,
"cdna_start": 5378,
"cdna_end": null,
"cdna_length": 6162,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYLK",
"gene_hgnc_id": 7590,
"hgvs_c": "c.5019T>C",
"hgvs_p": "p.Val1673Val",
"transcript": "ENST00000686406.1",
"protein_id": "ENSP00000509044.1",
"transcript_support_level": null,
"aa_start": 1673,
"aa_end": null,
"aa_length": 1913,
"cds_start": 5019,
"cds_end": null,
"cds_length": 5742,
"cdna_start": 5022,
"cdna_end": null,
"cdna_length": 5783,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYLK",
"gene_hgnc_id": 7590,
"hgvs_c": "c.4812T>C",
"hgvs_p": "p.Val1604Val",
"transcript": "NM_053026.4",
"protein_id": "NP_444254.3",
"transcript_support_level": null,
"aa_start": 1604,
"aa_end": null,
"aa_length": 1845,
"cds_start": 4812,
"cds_end": null,
"cds_length": 5538,
"cdna_start": 5124,
"cdna_end": null,
"cdna_length": 9906,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYLK",
"gene_hgnc_id": 7590,
"hgvs_c": "c.4812T>C",
"hgvs_p": "p.Val1604Val",
"transcript": "ENST00000693689.1",
"protein_id": "ENSP00000510503.1",
"transcript_support_level": null,
"aa_start": 1604,
"aa_end": null,
"aa_length": 1845,
"cds_start": 4812,
"cds_end": null,
"cds_length": 5538,
"cdna_start": 5106,
"cdna_end": null,
"cdna_length": 7398,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYLK",
"gene_hgnc_id": 7590,
"hgvs_c": "c.4491T>C",
"hgvs_p": "p.Val1497Val",
"transcript": "NM_001321309.2",
"protein_id": "NP_001308238.1",
"transcript_support_level": null,
"aa_start": 1497,
"aa_end": null,
"aa_length": 1738,
"cds_start": 4491,
"cds_end": null,
"cds_length": 5217,
"cdna_start": 5123,
"cdna_end": null,
"cdna_length": 9905,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYLK",
"gene_hgnc_id": 7590,
"hgvs_c": "c.4257T>C",
"hgvs_p": "p.Val1419Val",
"transcript": "ENST00000690457.1",
"protein_id": "ENSP00000508777.1",
"transcript_support_level": null,
"aa_start": 1419,
"aa_end": null,
"aa_length": 1660,
"cds_start": 4257,
"cds_end": null,
"cds_length": 4983,
"cdna_start": 4354,
"cdna_end": null,
"cdna_length": 5130,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYLK",
"gene_hgnc_id": 7590,
"hgvs_c": "c.2253T>C",
"hgvs_p": "p.Val751Val",
"transcript": "ENST00000685021.1",
"protein_id": "ENSP00000508447.1",
"transcript_support_level": null,
"aa_start": 751,
"aa_end": null,
"aa_length": 992,
"cds_start": 2253,
"cds_end": null,
"cds_length": 2979,
"cdna_start": 2750,
"cdna_end": null,
"cdna_length": 5278,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYLK",
"gene_hgnc_id": 7590,
"hgvs_c": "c.2253T>C",
"hgvs_p": "p.Val751Val",
"transcript": "ENST00000688024.1",
"protein_id": "ENSP00000509803.1",
"transcript_support_level": null,
"aa_start": 751,
"aa_end": null,
"aa_length": 991,
"cds_start": 2253,
"cds_end": null,
"cds_length": 2976,
"cdna_start": 2570,
"cdna_end": null,
"cdna_length": 5074,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYLK",
"gene_hgnc_id": 7590,
"hgvs_c": "c.2136T>C",
"hgvs_p": "p.Val712Val",
"transcript": "ENST00000686245.1",
"protein_id": "ENSP00000509313.1",
"transcript_support_level": null,
"aa_start": 712,
"aa_end": null,
"aa_length": 953,
"cds_start": 2136,
"cds_end": null,
"cds_length": 2862,
"cdna_start": 2509,
"cdna_end": null,
"cdna_length": 3278,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYLK",
"gene_hgnc_id": 7590,
"hgvs_c": "c.2049T>C",
"hgvs_p": "p.Val683Val",
"transcript": "ENST00000688223.1",
"protein_id": "ENSP00000508935.1",
"transcript_support_level": null,
"aa_start": 683,
"aa_end": null,
"aa_length": 924,
"cds_start": 2049,
"cds_end": null,
"cds_length": 2775,
"cdna_start": 2552,
"cdna_end": null,
"cdna_length": 5069,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYLK",
"gene_hgnc_id": 7590,
"hgvs_c": "c.1419T>C",
"hgvs_p": "p.Val473Val",
"transcript": "ENST00000508240.2",
"protein_id": "ENSP00000422984.2",
"transcript_support_level": 4,
"aa_start": 473,
"aa_end": null,
"aa_length": 714,
"cds_start": 1419,
"cds_end": null,
"cds_length": 2145,
"cdna_start": 1573,
"cdna_end": null,
"cdna_length": 2359,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYLK",
"gene_hgnc_id": 7590,
"hgvs_c": "c.1419T>C",
"hgvs_p": "p.Val473Val",
"transcript": "ENST00000685953.1",
"protein_id": "ENSP00000510593.1",
"transcript_support_level": null,
"aa_start": 473,
"aa_end": null,
"aa_length": 713,
"cds_start": 1419,
"cds_end": null,
"cds_length": 2142,
"cdna_start": 1548,
"cdna_end": null,
"cdna_length": 3686,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYLK",
"gene_hgnc_id": 7590,
"hgvs_c": "c.5049T>C",
"hgvs_p": "p.Val1683Val",
"transcript": "XM_024453532.2",
"protein_id": "XP_024309300.1",
"transcript_support_level": null,
"aa_start": 1683,
"aa_end": null,
"aa_length": 1924,
"cds_start": 5049,
"cds_end": null,
"cds_length": 5775,
"cdna_start": 5332,
"cdna_end": null,
"cdna_length": 10114,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYLK",
"gene_hgnc_id": 7590,
"hgvs_c": "c.5049T>C",
"hgvs_p": "p.Val1683Val",
"transcript": "XM_047448183.1",
"protein_id": "XP_047304139.1",
"transcript_support_level": null,
"aa_start": 1683,
"aa_end": null,
"aa_length": 1924,
"cds_start": 5049,
"cds_end": null,
"cds_length": 5775,
"cdna_start": 5391,
"cdna_end": null,
"cdna_length": 10173,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYLK",
"gene_hgnc_id": 7590,
"hgvs_c": "c.5049T>C",
"hgvs_p": "p.Val1683Val",
"transcript": "XM_047448187.1",
"protein_id": "XP_047304143.1",
"transcript_support_level": null,
"aa_start": 1683,
"aa_end": null,
"aa_length": 1924,
"cds_start": 5049,
"cds_end": null,
"cds_length": 5775,
"cdna_start": 5459,
"cdna_end": null,
"cdna_length": 10241,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYLK",
"gene_hgnc_id": 7590,
"hgvs_c": "c.5049T>C",
"hgvs_p": "p.Val1683Val",
"transcript": "XM_011512860.4",
"protein_id": "XP_011511162.2",
"transcript_support_level": null,
"aa_start": 1683,
"aa_end": null,
"aa_length": 1923,
"cds_start": 5049,
"cds_end": null,
"cds_length": 5772,
"cdna_start": 5176,
"cdna_end": null,
"cdna_length": 9955,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYLK",
"gene_hgnc_id": 7590,
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"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 641,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "MYLK-AS1",
"gene_hgnc_id": 42440,
"hgvs_c": "n.427+3A>G",
"hgvs_p": null,
"transcript": "ENST00000756529.1",
"protein_id": null,
"transcript_support_level": null,
"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": 753,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "MYLK",
"gene_hgnc_id": 7590,
"dbsnp": "rs1553774768",
"frequency_reference_population": 0.000004104321,
"hom_count_reference_population": 0,
"allele_count_reference_population": 6,
"gnomad_exomes_af": 0.00000410432,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 6,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.4399999976158142,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.44,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.001,
"phylop100way_prediction": "Benign",
"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": -11,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6_Very_Strong,BP7",
"acmg_by_gene": [
{
"score": -11,
"benign_score": 11,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6_Very_Strong",
"BP7"
],
"verdict": "Benign",
"transcript": "ENST00000360304.8",
"gene_symbol": "MYLK",
"hgnc_id": 7590,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.5019T>C",
"hgvs_p": "p.Val1673Val"
},
{
"score": -8,
"benign_score": 10,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate",
"BP6_Very_Strong"
],
"verdict": "Benign",
"transcript": "ENST00000756477.1",
"gene_symbol": "MYLK-AS1",
"hgnc_id": 42440,
"effects": [
"splice_region_variant",
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.322+3A>G",
"hgvs_p": null
}
],
"clinvar_disease": " familial thoracic 7,Aortic aneurysm,Familial thoracic aortic aneurysm and aortic dissection",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2",
"phenotype_combined": "Aortic aneurysm, familial thoracic 7|Familial thoracic aortic aneurysm and aortic dissection",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}