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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: X-65528279-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=65528279&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 65528279,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000374811.8",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAS1L",
"gene_hgnc_id": 25726,
"hgvs_c": "c.937G>A",
"hgvs_p": "p.Gly313Ser",
"transcript": "NM_031206.7",
"protein_id": "NP_112483.1",
"transcript_support_level": null,
"aa_start": 313,
"aa_end": null,
"aa_length": 734,
"cds_start": 937,
"cds_end": null,
"cds_length": 2205,
"cdna_start": 1009,
"cdna_end": null,
"cdna_length": 2470,
"mane_select": "ENST00000374811.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAS1L",
"gene_hgnc_id": 25726,
"hgvs_c": "c.937G>A",
"hgvs_p": "p.Gly313Ser",
"transcript": "ENST00000374811.8",
"protein_id": "ENSP00000363944.3",
"transcript_support_level": 1,
"aa_start": 313,
"aa_end": null,
"aa_length": 734,
"cds_start": 937,
"cds_end": null,
"cds_length": 2205,
"cdna_start": 1009,
"cdna_end": null,
"cdna_length": 2470,
"mane_select": "NM_031206.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAS1L",
"gene_hgnc_id": 25726,
"hgvs_c": "c.937G>A",
"hgvs_p": "p.Gly313Ser",
"transcript": "ENST00000374807.9",
"protein_id": "ENSP00000363940.5",
"transcript_support_level": 1,
"aa_start": 313,
"aa_end": null,
"aa_length": 717,
"cds_start": 937,
"cds_end": null,
"cds_length": 2154,
"cdna_start": 976,
"cdna_end": null,
"cdna_length": 2386,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAS1L",
"gene_hgnc_id": 25726,
"hgvs_c": "c.937G>A",
"hgvs_p": "p.Gly313Ser",
"transcript": "NM_001375328.1",
"protein_id": "NP_001362257.1",
"transcript_support_level": null,
"aa_start": 313,
"aa_end": null,
"aa_length": 733,
"cds_start": 937,
"cds_end": null,
"cds_length": 2202,
"cdna_start": 1009,
"cdna_end": null,
"cdna_length": 2467,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAS1L",
"gene_hgnc_id": 25726,
"hgvs_c": "c.937G>A",
"hgvs_p": "p.Gly313Ser",
"transcript": "NM_001170649.2",
"protein_id": "NP_001164120.1",
"transcript_support_level": null,
"aa_start": 313,
"aa_end": null,
"aa_length": 717,
"cds_start": 937,
"cds_end": null,
"cds_length": 2154,
"cdna_start": 1009,
"cdna_end": null,
"cdna_length": 2419,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAS1L",
"gene_hgnc_id": 25726,
"hgvs_c": "c.937G>A",
"hgvs_p": "p.Gly313Ser",
"transcript": "NM_001375333.1",
"protein_id": "NP_001362262.1",
"transcript_support_level": null,
"aa_start": 313,
"aa_end": null,
"aa_length": 716,
"cds_start": 937,
"cds_end": null,
"cds_length": 2151,
"cdna_start": 1009,
"cdna_end": null,
"cdna_length": 2416,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAS1L",
"gene_hgnc_id": 25726,
"hgvs_c": "c.811G>A",
"hgvs_p": "p.Gly271Ser",
"transcript": "NM_001170650.2",
"protein_id": "NP_001164121.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 675,
"cds_start": 811,
"cds_end": null,
"cds_length": 2028,
"cdna_start": 883,
"cdna_end": null,
"cdna_length": 2293,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAS1L",
"gene_hgnc_id": 25726,
"hgvs_c": "c.811G>A",
"hgvs_p": "p.Gly271Ser",
"transcript": "ENST00000374804.9",
"protein_id": "ENSP00000363937.5",
"transcript_support_level": 2,
"aa_start": 271,
"aa_end": null,
"aa_length": 675,
"cds_start": 811,
"cds_end": null,
"cds_length": 2028,
"cdna_start": 852,
"cdna_end": null,
"cdna_length": 2261,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAS1L",
"gene_hgnc_id": 25726,
"hgvs_c": "c.937G>A",
"hgvs_p": "p.Gly313Ser",
"transcript": "ENST00000677969.1",
"protein_id": "ENSP00000503410.1",
"transcript_support_level": null,
"aa_start": 313,
"aa_end": null,
"aa_length": 634,
"cds_start": 937,
"cds_end": null,
"cds_length": 1905,
"cdna_start": 976,
"cdna_end": null,
"cdna_length": 1957,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAS1L",
"gene_hgnc_id": 25726,
"hgvs_c": "c.589G>A",
"hgvs_p": "p.Gly197Ser",
"transcript": "ENST00000677087.1",
"protein_id": "ENSP00000503907.1",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 618,
"cds_start": 589,
"cds_end": null,
"cds_length": 1857,
"cdna_start": 853,
"cdna_end": null,
"cdna_length": 2308,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAS1L",
"gene_hgnc_id": 25726,
"hgvs_c": "c.937G>A",
"hgvs_p": "p.Gly313Ser",
"transcript": "NM_001375329.1",
"protein_id": "NP_001362258.1",
"transcript_support_level": null,
"aa_start": 313,
"aa_end": null,
"aa_length": 536,
"cds_start": 937,
"cds_end": null,
"cds_length": 1611,
"cdna_start": 1009,
"cdna_end": null,
"cdna_length": 1909,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAS1L",
"gene_hgnc_id": 25726,
"hgvs_c": "c.937G>A",
"hgvs_p": "p.Gly313Ser",
"transcript": "ENST00000678570.1",
"protein_id": "ENSP00000504558.1",
"transcript_support_level": null,
"aa_start": 313,
"aa_end": null,
"aa_length": 503,
"cds_start": 937,
"cds_end": null,
"cds_length": 1512,
"cdna_start": 1020,
"cdna_end": null,
"cdna_length": 2234,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAS1L",
"gene_hgnc_id": 25726,
"hgvs_c": "c.937G>A",
"hgvs_p": "p.Gly313Ser",
"transcript": "NM_001375330.1",
"protein_id": "NP_001362259.1",
"transcript_support_level": null,
"aa_start": 313,
"aa_end": null,
"aa_length": 490,
"cds_start": 937,
"cds_end": null,
"cds_length": 1473,
"cdna_start": 1009,
"cdna_end": null,
"cdna_length": 2382,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAS1L",
"gene_hgnc_id": 25726,
"hgvs_c": "c.937G>A",
"hgvs_p": "p.Gly313Ser",
"transcript": "NM_001410733.1",
"protein_id": "NP_001397662.1",
"transcript_support_level": null,
"aa_start": 313,
"aa_end": null,
"aa_length": 489,
"cds_start": 937,
"cds_end": null,
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"cdna_start": 1009,
"cdna_end": null,
"cdna_length": 2379,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAS1L",
"gene_hgnc_id": 25726,
"hgvs_c": "c.937G>A",
"hgvs_p": "p.Gly313Ser",
"transcript": "ENST00000678823.1",
"protein_id": "ENSP00000503795.1",
"transcript_support_level": null,
"aa_start": 313,
"aa_end": null,
"aa_length": 489,
"cds_start": 937,
"cds_end": null,
"cds_length": 1470,
"cdna_start": 1020,
"cdna_end": null,
"cdna_length": 2324,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAS1L",
"gene_hgnc_id": 25726,
"hgvs_c": "c.937G>A",
"hgvs_p": "p.Gly313Ser",
"transcript": "NM_001375334.1",
"protein_id": "NP_001362263.1",
"transcript_support_level": null,
"aa_start": 313,
"aa_end": null,
"aa_length": 486,
"cds_start": 937,
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"cdna_start": 1009,
"cdna_end": null,
"cdna_length": 3440,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAS1L",
"gene_hgnc_id": 25726,
"hgvs_c": "c.937G>A",
"hgvs_p": "p.Gly313Ser",
"transcript": "NM_001375335.1",
"protein_id": "NP_001362264.1",
"transcript_support_level": null,
"aa_start": 313,
"aa_end": null,
"aa_length": 486,
"cds_start": 937,
"cds_end": null,
"cds_length": 1461,
"cdna_start": 1009,
"cdna_end": null,
"cdna_length": 3468,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAS1L",
"gene_hgnc_id": 25726,
"hgvs_c": "c.937G>A",
"hgvs_p": "p.Gly313Ser",
"transcript": "NM_001441337.1",
"protein_id": "NP_001428266.1",
"transcript_support_level": null,
"aa_start": 313,
"aa_end": null,
"aa_length": 480,
"cds_start": 937,
"cds_end": null,
"cds_length": 1443,
"cdna_start": 1009,
"cdna_end": null,
"cdna_length": 3326,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAS1L",
"gene_hgnc_id": 25726,
"hgvs_c": "c.937G>A",
"hgvs_p": "p.Gly313Ser",
"transcript": "NM_001441338.1",
"protein_id": "NP_001428267.1",
"transcript_support_level": null,
"aa_start": 313,
"aa_end": null,
"aa_length": 473,
"cds_start": 937,
"cds_end": null,
"cds_length": 1422,
"cdna_start": 1009,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAS1L",
"gene_hgnc_id": 25726,
"hgvs_c": "c.937G>A",
"hgvs_p": "p.Gly313Ser",
"transcript": "NM_001375331.1",
"protein_id": "NP_001362260.1",
"transcript_support_level": null,
"aa_start": 313,
"aa_end": null,
"aa_length": 472,
"cds_start": 937,
"cds_end": null,
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"cdna_start": 1009,
"cdna_end": null,
"cdna_length": 2328,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAS1L",
"gene_hgnc_id": 25726,
"hgvs_c": "c.937G>A",
"hgvs_p": "p.Gly313Ser",
"transcript": "ENST00000676986.1",
"protein_id": "ENSP00000503577.1",
"transcript_support_level": null,
"aa_start": 313,
"aa_end": null,
"aa_length": 472,
"cds_start": 937,
"cds_end": null,
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"cdna_start": 1020,
"cdna_end": null,
"cdna_length": 2301,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAS1L",
"gene_hgnc_id": 25726,
"hgvs_c": "c.937G>A",
"hgvs_p": "p.Gly313Ser",
"transcript": "NM_001375336.1",
"protein_id": "NP_001362265.1",
"transcript_support_level": null,
"aa_start": 313,
"aa_end": null,
"aa_length": 469,
"cds_start": 937,
"cds_end": null,
"cds_length": 1410,
"cdna_start": 1009,
"cdna_end": null,
"cdna_length": 3417,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAS1L",
"gene_hgnc_id": 25726,
"hgvs_c": "c.937G>A",
"hgvs_p": "p.Gly313Ser",
"transcript": "NM_001375337.1",
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"cdna_start": null,
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"cdna_length": 6995,
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"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 5,
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"gene_symbol": "LAS1L",
"gene_hgnc_id": 25726,
"hgvs_c": "n.871+1315G>A",
"hgvs_p": null,
"transcript": "ENST00000679116.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 7570,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "LAS1L",
"gene_hgnc_id": 25726,
"hgvs_c": "n.918+933G>A",
"hgvs_p": null,
"transcript": "NR_199824.1",
"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": 2360,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "LAS1L",
"gene_hgnc_id": 25726,
"dbsnp": "rs745313876",
"frequency_reference_population": 0.00006932195,
"hom_count_reference_population": 29,
"allele_count_reference_population": 83,
"gnomad_exomes_af": 0.0000709804,
"gnomad_genomes_af": 0.000053331,
"gnomad_exomes_ac": 77,
"gnomad_genomes_ac": 6,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.04775562882423401,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.039,
"revel_prediction": "Benign",
"alphamissense_score": 0.096,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.67,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.594,
"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": -8,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BS2",
"acmg_by_gene": [
{
"score": -8,
"benign_score": 8,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000374811.8",
"gene_symbol": "LAS1L",
"hgnc_id": 25726,
"effects": [
"missense_variant"
],
"inheritance_mode": "Unknown,XL",
"hgvs_c": "c.937G>A",
"hgvs_p": "p.Gly313Ser"
}
],
"clinvar_disease": "Wilson-Turner syndrome",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Wilson-Turner syndrome",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}