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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: 16-2086743-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=2086743&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 2086743,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000219476.9",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC2",
"gene_hgnc_id": 12363,
"hgvs_c": "c.4861A>G",
"hgvs_p": "p.Ile1621Val",
"transcript": "NM_000548.5",
"protein_id": "NP_000539.2",
"transcript_support_level": null,
"aa_start": 1621,
"aa_end": null,
"aa_length": 1807,
"cds_start": 4861,
"cds_end": null,
"cds_length": 5424,
"cdna_start": 4971,
"cdna_end": null,
"cdna_length": 6415,
"mane_select": "ENST00000219476.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC2",
"gene_hgnc_id": 12363,
"hgvs_c": "c.4861A>G",
"hgvs_p": "p.Ile1621Val",
"transcript": "ENST00000219476.9",
"protein_id": "ENSP00000219476.3",
"transcript_support_level": 5,
"aa_start": 1621,
"aa_end": null,
"aa_length": 1807,
"cds_start": 4861,
"cds_end": null,
"cds_length": 5424,
"cdna_start": 4971,
"cdna_end": null,
"cdna_length": 6415,
"mane_select": "NM_000548.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC2",
"gene_hgnc_id": 12363,
"hgvs_c": "c.4792A>G",
"hgvs_p": "p.Ile1598Val",
"transcript": "ENST00000350773.9",
"protein_id": "ENSP00000344383.4",
"transcript_support_level": 1,
"aa_start": 1598,
"aa_end": null,
"aa_length": 1784,
"cds_start": 4792,
"cds_end": null,
"cds_length": 5355,
"cdna_start": 4867,
"cdna_end": null,
"cdna_length": 5538,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC2",
"gene_hgnc_id": 12363,
"hgvs_c": "c.4660A>G",
"hgvs_p": "p.Ile1554Val",
"transcript": "ENST00000401874.7",
"protein_id": "ENSP00000384468.2",
"transcript_support_level": 1,
"aa_start": 1554,
"aa_end": null,
"aa_length": 1740,
"cds_start": 4660,
"cds_end": null,
"cds_length": 5223,
"cdna_start": 4766,
"cdna_end": null,
"cdna_length": 5437,
"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": 34,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC2",
"gene_hgnc_id": 12363,
"hgvs_c": "n.*4028A>G",
"hgvs_p": null,
"transcript": "ENST00000439117.6",
"protein_id": "ENSP00000406980.2",
"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": 5073,
"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": 34,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC2",
"gene_hgnc_id": 12363,
"hgvs_c": "n.*4028A>G",
"hgvs_p": null,
"transcript": "ENST00000439117.6",
"protein_id": "ENSP00000406980.2",
"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": 5073,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC2",
"gene_hgnc_id": 12363,
"hgvs_c": "c.4951A>G",
"hgvs_p": "p.Ile1651Val",
"transcript": "ENST00000645186.2",
"protein_id": "ENSP00000495110.2",
"transcript_support_level": null,
"aa_start": 1651,
"aa_end": null,
"aa_length": 1837,
"cds_start": 4951,
"cds_end": null,
"cds_length": 5514,
"cdna_start": 5061,
"cdna_end": null,
"cdna_length": 6505,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC2",
"gene_hgnc_id": 12363,
"hgvs_c": "c.4858A>G",
"hgvs_p": "p.Ile1620Val",
"transcript": "NM_001406663.1",
"protein_id": "NP_001393592.1",
"transcript_support_level": null,
"aa_start": 1620,
"aa_end": null,
"aa_length": 1806,
"cds_start": 4858,
"cds_end": null,
"cds_length": 5421,
"cdna_start": 4968,
"cdna_end": null,
"cdna_length": 6412,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC2",
"gene_hgnc_id": 12363,
"hgvs_c": "c.4858A>G",
"hgvs_p": "p.Ile1620Val",
"transcript": "ENST00000642365.2",
"protein_id": "ENSP00000495459.2",
"transcript_support_level": null,
"aa_start": 1620,
"aa_end": null,
"aa_length": 1806,
"cds_start": 4858,
"cds_end": null,
"cds_length": 5421,
"cdna_start": 4929,
"cdna_end": null,
"cdna_length": 5574,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC2",
"gene_hgnc_id": 12363,
"hgvs_c": "c.4855A>G",
"hgvs_p": "p.Ile1619Val",
"transcript": "ENST00000646388.1",
"protein_id": "ENSP00000495921.1",
"transcript_support_level": null,
"aa_start": 1619,
"aa_end": null,
"aa_length": 1805,
"cds_start": 4855,
"cds_end": null,
"cds_length": 5418,
"cdna_start": 4941,
"cdna_end": null,
"cdna_length": 5614,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC2",
"gene_hgnc_id": 12363,
"hgvs_c": "c.4792A>G",
"hgvs_p": "p.Ile1598Val",
"transcript": "NM_001114382.3",
"protein_id": "NP_001107854.1",
"transcript_support_level": null,
"aa_start": 1598,
"aa_end": null,
"aa_length": 1784,
"cds_start": 4792,
"cds_end": null,
"cds_length": 5355,
"cdna_start": 4902,
"cdna_end": null,
"cdna_length": 6346,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC2",
"gene_hgnc_id": 12363,
"hgvs_c": "c.4789A>G",
"hgvs_p": "p.Ile1597Val",
"transcript": "NM_001406664.1",
"protein_id": "NP_001393593.1",
"transcript_support_level": null,
"aa_start": 1597,
"aa_end": null,
"aa_length": 1783,
"cds_start": 4789,
"cds_end": null,
"cds_length": 5352,
"cdna_start": 4899,
"cdna_end": null,
"cdna_length": 6343,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC2",
"gene_hgnc_id": 12363,
"hgvs_c": "c.4786A>G",
"hgvs_p": "p.Ile1596Val",
"transcript": "ENST00000643946.1",
"protein_id": "ENSP00000495927.1",
"transcript_support_level": null,
"aa_start": 1596,
"aa_end": null,
"aa_length": 1782,
"cds_start": 4786,
"cds_end": null,
"cds_length": 5349,
"cdna_start": 4904,
"cdna_end": null,
"cdna_length": 6344,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC2",
"gene_hgnc_id": 12363,
"hgvs_c": "c.4783A>G",
"hgvs_p": "p.Ile1595Val",
"transcript": "NM_001406665.1",
"protein_id": "NP_001393594.1",
"transcript_support_level": null,
"aa_start": 1595,
"aa_end": null,
"aa_length": 1781,
"cds_start": 4783,
"cds_end": null,
"cds_length": 5346,
"cdna_start": 4893,
"cdna_end": null,
"cdna_length": 6337,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC2",
"gene_hgnc_id": 12363,
"hgvs_c": "c.4780A>G",
"hgvs_p": "p.Ile1594Val",
"transcript": "ENST00000644399.1",
"protein_id": "ENSP00000493990.1",
"transcript_support_level": null,
"aa_start": 1594,
"aa_end": null,
"aa_length": 1780,
"cds_start": 4780,
"cds_end": null,
"cds_length": 5343,
"cdna_start": 4782,
"cdna_end": null,
"cdna_length": 5445,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC2",
"gene_hgnc_id": 12363,
"hgvs_c": "c.4753A>G",
"hgvs_p": "p.Ile1585Val",
"transcript": "NM_001406667.1",
"protein_id": "NP_001393596.1",
"transcript_support_level": null,
"aa_start": 1585,
"aa_end": null,
"aa_length": 1771,
"cds_start": 4753,
"cds_end": null,
"cds_length": 5316,
"cdna_start": 4863,
"cdna_end": null,
"cdna_length": 6307,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC2",
"gene_hgnc_id": 12363,
"hgvs_c": "c.4750A>G",
"hgvs_p": "p.Ile1584Val",
"transcript": "NM_001406668.1",
"protein_id": "NP_001393597.1",
"transcript_support_level": null,
"aa_start": 1584,
"aa_end": null,
"aa_length": 1770,
"cds_start": 4750,
"cds_end": null,
"cds_length": 5313,
"cdna_start": 4860,
"cdna_end": null,
"cdna_length": 6304,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC2",
"gene_hgnc_id": 12363,
"hgvs_c": "c.4660A>G",
"hgvs_p": "p.Ile1554Val",
"transcript": "ENST00000644329.1",
"protein_id": "ENSP00000496611.1",
"transcript_support_level": null,
"aa_start": 1554,
"aa_end": null,
"aa_length": 1769,
"cds_start": 4660,
"cds_end": null,
"cds_length": 5310,
"cdna_start": 4722,
"cdna_end": null,
"cdna_length": 5453,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC2",
"gene_hgnc_id": 12363,
"hgvs_c": "c.4732A>G",
"hgvs_p": "p.Ile1578Val",
"transcript": "NM_021055.3",
"protein_id": "NP_066399.2",
"transcript_support_level": null,
"aa_start": 1578,
"aa_end": null,
"aa_length": 1764,
"cds_start": 4732,
"cds_end": null,
"cds_length": 5295,
"cdna_start": 4842,
"cdna_end": null,
"cdna_length": 6286,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC2",
"gene_hgnc_id": 12363,
"hgvs_c": "c.4732A>G",
"hgvs_p": "p.Ile1578Val",
"transcript": "ENST00000644043.1",
"protein_id": "ENSP00000496262.1",
"transcript_support_level": null,
"aa_start": 1578,
"aa_end": null,
"aa_length": 1764,
"cds_start": 4732,
"cds_end": null,
"cds_length": 5295,
"cdna_start": 4786,
"cdna_end": null,
"cdna_length": 5457,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC2",
"gene_hgnc_id": 12363,
"hgvs_c": "c.4729A>G",
"hgvs_p": "p.Ile1577Val",
"transcript": "NM_001370404.1",
"protein_id": "NP_001357333.1",
"transcript_support_level": null,
"aa_start": 1577,
"aa_end": null,
"aa_length": 1763,
"cds_start": 4729,
"cds_end": null,
"cds_length": 5292,
"cdna_start": 4839,
"cdna_end": null,
"cdna_length": 6283,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC2",
"gene_hgnc_id": 12363,
"hgvs_c": "c.4729A>G",
"hgvs_p": "p.Ile1577Val",
"transcript": "ENST00000642936.1",
"protein_id": "ENSP00000494514.1",
"transcript_support_level": null,
"aa_start": 1577,
"aa_end": null,
"aa_length": 1763,
"cds_start": 4729,
"cds_end": null,
"cds_length": 5292,
"cdna_start": 4838,
"cdna_end": null,
"cdna_length": 5507,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
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"intron_rank_end": null,
"gene_symbol": "TSC2",
"gene_hgnc_id": 12363,
"hgvs_c": "n.2608-24A>G",
"hgvs_p": null,
"transcript": "ENST00000497886.5",
"protein_id": null,
"transcript_support_level": 2,
"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": 3248,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": 35,
"intron_rank_end": null,
"gene_symbol": "TSC2",
"gene_hgnc_id": 12363,
"hgvs_c": "n.4759-24A>G",
"hgvs_p": null,
"transcript": "NR_176229.1",
"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": 6179,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "TSC2",
"gene_hgnc_id": 12363,
"dbsnp": "rs1555516628",
"frequency_reference_population": 0.000003428631,
"hom_count_reference_population": 0,
"allele_count_reference_population": 5,
"gnomad_exomes_af": 0.00000342863,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 5,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5765770673751831,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.612,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1253,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.06,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.487,
"phylop100way_prediction": "Uncertain_significance",
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM1,PM2,BS2",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 4,
"pathogenic_score": 4,
"criteria": [
"PM1",
"PM2",
"BS2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000219476.9",
"gene_symbol": "TSC2",
"hgnc_id": 12363,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.4861A>G",
"hgvs_p": "p.Ile1621Val"
}
],
"clinvar_disease": "Hereditary cancer-predisposing syndrome,Isolated focal cortical dysplasia type II,Tuberous sclerosis 2,not provided",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:4 B:1",
"phenotype_combined": "Tuberous sclerosis 2|Hereditary cancer-predisposing syndrome|not provided|Isolated focal cortical dysplasia type II",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}