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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: 19-40601522-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=40601522&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 40601522,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_001042545.2",
"consequences": [
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTBP4",
"gene_hgnc_id": 6717,
"hgvs_c": "c.135C>T",
"hgvs_p": "p.Cys45Cys",
"transcript": "NM_001042545.2",
"protein_id": "NP_001036010.1",
"transcript_support_level": null,
"aa_start": 45,
"aa_end": null,
"aa_length": 1557,
"cds_start": 135,
"cds_end": null,
"cds_length": 4674,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000396819.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001042545.2"
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTBP4",
"gene_hgnc_id": 6717,
"hgvs_c": "c.135C>T",
"hgvs_p": "p.Cys45Cys",
"transcript": "ENST00000396819.8",
"protein_id": "ENSP00000380031.5",
"transcript_support_level": 1,
"aa_start": 45,
"aa_end": null,
"aa_length": 1557,
"cds_start": 135,
"cds_end": null,
"cds_length": 4674,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001042545.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000396819.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "LTBP4",
"gene_hgnc_id": 6717,
"hgvs_c": "c.451+1345C>T",
"hgvs_p": null,
"transcript": "ENST00000308370.11",
"protein_id": "ENSP00000311905.8",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1624,
"cds_start": null,
"cds_end": null,
"cds_length": 4875,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000308370.11"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "LTBP4",
"gene_hgnc_id": 6717,
"hgvs_c": "c.340+1345C>T",
"hgvs_p": null,
"transcript": "ENST00000204005.13",
"protein_id": "ENSP00000204005.10",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1587,
"cds_start": null,
"cds_end": null,
"cds_length": 4764,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000204005.13"
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTBP4",
"gene_hgnc_id": 6717,
"hgvs_c": "c.135C>T",
"hgvs_p": "p.Cys45Cys",
"transcript": "ENST00000969228.1",
"protein_id": "ENSP00000639287.1",
"transcript_support_level": null,
"aa_start": 45,
"aa_end": null,
"aa_length": 1565,
"cds_start": 135,
"cds_end": null,
"cds_length": 4698,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969228.1"
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTBP4",
"gene_hgnc_id": 6717,
"hgvs_c": "c.135C>T",
"hgvs_p": "p.Cys45Cys",
"transcript": "ENST00000908835.1",
"protein_id": "ENSP00000578894.1",
"transcript_support_level": null,
"aa_start": 45,
"aa_end": null,
"aa_length": 1533,
"cds_start": 135,
"cds_end": null,
"cds_length": 4602,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908835.1"
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTBP4",
"gene_hgnc_id": 6717,
"hgvs_c": "c.135C>T",
"hgvs_p": "p.Cys45Cys",
"transcript": "ENST00000908836.1",
"protein_id": "ENSP00000578895.1",
"transcript_support_level": null,
"aa_start": 45,
"aa_end": null,
"aa_length": 1515,
"cds_start": 135,
"cds_end": null,
"cds_length": 4548,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908836.1"
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTBP4",
"gene_hgnc_id": 6717,
"hgvs_c": "c.135C>T",
"hgvs_p": "p.Cys45Cys",
"transcript": "ENST00000969223.1",
"protein_id": "ENSP00000639282.1",
"transcript_support_level": null,
"aa_start": 45,
"aa_end": null,
"aa_length": 1508,
"cds_start": 135,
"cds_end": null,
"cds_length": 4527,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969223.1"
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTBP4",
"gene_hgnc_id": 6717,
"hgvs_c": "c.135C>T",
"hgvs_p": "p.Cys45Cys",
"transcript": "ENST00000908839.1",
"protein_id": "ENSP00000578898.1",
"transcript_support_level": null,
"aa_start": 45,
"aa_end": null,
"aa_length": 1478,
"cds_start": 135,
"cds_end": null,
"cds_length": 4437,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908839.1"
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTBP4",
"gene_hgnc_id": 6717,
"hgvs_c": "c.135C>T",
"hgvs_p": "p.Cys45Cys",
"transcript": "ENST00000908838.1",
"protein_id": "ENSP00000578897.1",
"transcript_support_level": null,
"aa_start": 45,
"aa_end": null,
"aa_length": 1468,
"cds_start": 135,
"cds_end": null,
"cds_length": 4407,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908838.1"
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTBP4",
"gene_hgnc_id": 6717,
"hgvs_c": "c.135C>T",
"hgvs_p": "p.Cys45Cys",
"transcript": "ENST00000908834.1",
"protein_id": "ENSP00000578893.1",
"transcript_support_level": null,
"aa_start": 45,
"aa_end": null,
"aa_length": 1447,
"cds_start": 135,
"cds_end": null,
"cds_length": 4344,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908834.1"
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTBP4",
"gene_hgnc_id": 6717,
"hgvs_c": "c.135C>T",
"hgvs_p": "p.Cys45Cys",
"transcript": "ENST00000969230.1",
"protein_id": "ENSP00000639289.1",
"transcript_support_level": null,
"aa_start": 45,
"aa_end": null,
"aa_length": 1442,
"cds_start": 135,
"cds_end": null,
"cds_length": 4329,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969230.1"
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTBP4",
"gene_hgnc_id": 6717,
"hgvs_c": "c.135C>T",
"hgvs_p": "p.Cys45Cys",
"transcript": "ENST00000908837.1",
"protein_id": "ENSP00000578896.1",
"transcript_support_level": null,
"aa_start": 45,
"aa_end": null,
"aa_length": 1412,
"cds_start": 135,
"cds_end": null,
"cds_length": 4239,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908837.1"
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTBP4",
"gene_hgnc_id": 6717,
"hgvs_c": "c.135C>T",
"hgvs_p": "p.Cys45Cys",
"transcript": "ENST00000969221.1",
"protein_id": "ENSP00000639280.1",
"transcript_support_level": null,
"aa_start": 45,
"aa_end": null,
"aa_length": 1405,
"cds_start": 135,
"cds_end": null,
"cds_length": 4218,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969221.1"
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTBP4",
"gene_hgnc_id": 6717,
"hgvs_c": "c.135C>T",
"hgvs_p": "p.Cys45Cys",
"transcript": "ENST00000908840.1",
"protein_id": "ENSP00000578899.1",
"transcript_support_level": null,
"aa_start": 45,
"aa_end": null,
"aa_length": 1401,
"cds_start": 135,
"cds_end": null,
"cds_length": 4206,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908840.1"
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTBP4",
"gene_hgnc_id": 6717,
"hgvs_c": "c.135C>T",
"hgvs_p": "p.Cys45Cys",
"transcript": "ENST00000969220.1",
"protein_id": "ENSP00000639279.1",
"transcript_support_level": null,
"aa_start": 45,
"aa_end": null,
"aa_length": 1395,
"cds_start": 135,
"cds_end": null,
"cds_length": 4188,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969220.1"
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTBP4",
"gene_hgnc_id": 6717,
"hgvs_c": "c.135C>T",
"hgvs_p": "p.Cys45Cys",
"transcript": "ENST00000969224.1",
"protein_id": "ENSP00000639283.1",
"transcript_support_level": null,
"aa_start": 45,
"aa_end": null,
"aa_length": 1382,
"cds_start": 135,
"cds_end": null,
"cds_length": 4149,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969224.1"
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTBP4",
"gene_hgnc_id": 6717,
"hgvs_c": "c.135C>T",
"hgvs_p": "p.Cys45Cys",
"transcript": "ENST00000969222.1",
"protein_id": "ENSP00000639281.1",
"transcript_support_level": null,
"aa_start": 45,
"aa_end": null,
"aa_length": 1366,
"cds_start": 135,
"cds_end": null,
"cds_length": 4101,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969222.1"
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTBP4",
"gene_hgnc_id": 6717,
"hgvs_c": "c.135C>T",
"hgvs_p": "p.Cys45Cys",
"transcript": "ENST00000969226.1",
"protein_id": "ENSP00000639285.1",
"transcript_support_level": null,
"aa_start": 45,
"aa_end": null,
"aa_length": 1355,
"cds_start": 135,
"cds_end": null,
"cds_length": 4068,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969226.1"
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTBP4",
"gene_hgnc_id": 6717,
"hgvs_c": "c.135C>T",
"hgvs_p": "p.Cys45Cys",
"transcript": "ENST00000969225.1",
"protein_id": "ENSP00000639284.1",
"transcript_support_level": null,
"aa_start": 45,
"aa_end": null,
"aa_length": 1309,
"cds_start": 135,
"cds_end": null,
"cds_length": 3930,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969225.1"
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTBP4",
"gene_hgnc_id": 6717,
"hgvs_c": "c.135C>T",
"hgvs_p": "p.Cys45Cys",
"transcript": "ENST00000969229.1",
"protein_id": "ENSP00000639288.1",
"transcript_support_level": null,
"aa_start": 45,
"aa_end": null,
"aa_length": 1123,
"cds_start": 135,
"cds_end": null,
"cds_length": 3372,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969229.1"
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTBP4",
"gene_hgnc_id": 6717,
"hgvs_c": "c.135C>T",
"hgvs_p": "p.Cys45Cys",
"transcript": "ENST00000969227.1",
"protein_id": "ENSP00000639286.1",
"transcript_support_level": null,
"aa_start": 45,
"aa_end": null,
"aa_length": 504,
"cds_start": 135,
"cds_end": null,
"cds_length": 1515,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
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{
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{
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{
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{
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{
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"gene_symbol": "LTBP4",
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"transcript": "ENST00000600026.5",
"protein_id": "ENSP00000483230.1",
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000600026.5"
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],
"gene_symbol": "LTBP4",
"gene_hgnc_id": 6717,
"dbsnp": "rs185400394",
"frequency_reference_population": 0.0067852098,
"hom_count_reference_population": 58,
"allele_count_reference_population": 10135,
"gnomad_exomes_af": 0.00684506,
"gnomad_genomes_af": 0.00625748,
"gnomad_exomes_ac": 9183,
"gnomad_genomes_ac": 952,
"gnomad_exomes_homalt": 52,
"gnomad_genomes_homalt": 6,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.3199999928474426,
"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": -0.32,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.653,
"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": -19,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6_Very_Strong,BP7,BS1,BS2",
"acmg_by_gene": [
{
"score": -19,
"benign_score": 19,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6_Very_Strong",
"BP7",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001042545.2",
"gene_symbol": "LTBP4",
"hgnc_id": 6717,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.135C>T",
"hgvs_p": "p.Cys45Cys"
}
],
"clinvar_disease": "LTBP4-related disorder,not provided,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:3 B:1",
"phenotype_combined": "not specified|LTBP4-related disorder|not provided",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}