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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: 9-132907303-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=132907303&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 132907303,
"ref": "G",
"alt": "A",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_000368.5",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC1",
"gene_hgnc_id": 12362,
"hgvs_c": "c.1331C>T",
"hgvs_p": "p.Ser444Leu",
"transcript": "NM_000368.5",
"protein_id": "NP_000359.1",
"transcript_support_level": null,
"aa_start": 444,
"aa_end": null,
"aa_length": 1164,
"cds_start": 1331,
"cds_end": null,
"cds_length": 3495,
"cdna_start": 1548,
"cdna_end": null,
"cdna_length": 8598,
"mane_select": "ENST00000298552.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC1",
"gene_hgnc_id": 12362,
"hgvs_c": "c.1331C>T",
"hgvs_p": "p.Ser444Leu",
"transcript": "ENST00000298552.9",
"protein_id": "ENSP00000298552.3",
"transcript_support_level": 1,
"aa_start": 444,
"aa_end": null,
"aa_length": 1164,
"cds_start": 1331,
"cds_end": null,
"cds_length": 3495,
"cdna_start": 1548,
"cdna_end": null,
"cdna_length": 8598,
"mane_select": "NM_000368.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC1",
"gene_hgnc_id": 12362,
"hgvs_c": "c.1331C>T",
"hgvs_p": "p.Ser444Leu",
"transcript": "ENST00000490179.4",
"protein_id": "ENSP00000495533.2",
"transcript_support_level": 3,
"aa_start": 444,
"aa_end": null,
"aa_length": 1164,
"cds_start": 1331,
"cds_end": null,
"cds_length": 3495,
"cdna_start": 1640,
"cdna_end": null,
"cdna_length": 8690,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC1",
"gene_hgnc_id": 12362,
"hgvs_c": "c.1331C>T",
"hgvs_p": "p.Ser444Leu",
"transcript": "NM_001406592.1",
"protein_id": "NP_001393521.1",
"transcript_support_level": null,
"aa_start": 444,
"aa_end": null,
"aa_length": 1164,
"cds_start": 1331,
"cds_end": null,
"cds_length": 3495,
"cdna_start": 1519,
"cdna_end": null,
"cdna_length": 8569,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC1",
"gene_hgnc_id": 12362,
"hgvs_c": "c.1331C>T",
"hgvs_p": "p.Ser444Leu",
"transcript": "NM_001406593.1",
"protein_id": "NP_001393522.1",
"transcript_support_level": null,
"aa_start": 444,
"aa_end": null,
"aa_length": 1164,
"cds_start": 1331,
"cds_end": null,
"cds_length": 3495,
"cdna_start": 1544,
"cdna_end": null,
"cdna_length": 8594,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC1",
"gene_hgnc_id": 12362,
"hgvs_c": "c.1331C>T",
"hgvs_p": "p.Ser444Leu",
"transcript": "NM_001406594.1",
"protein_id": "NP_001393523.1",
"transcript_support_level": null,
"aa_start": 444,
"aa_end": null,
"aa_length": 1164,
"cds_start": 1331,
"cds_end": null,
"cds_length": 3495,
"cdna_start": 1767,
"cdna_end": null,
"cdna_length": 8817,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC1",
"gene_hgnc_id": 12362,
"hgvs_c": "c.1331C>T",
"hgvs_p": "p.Ser444Leu",
"transcript": "NM_001406595.1",
"protein_id": "NP_001393524.1",
"transcript_support_level": null,
"aa_start": 444,
"aa_end": null,
"aa_length": 1164,
"cds_start": 1331,
"cds_end": null,
"cds_length": 3495,
"cdna_start": 1738,
"cdna_end": null,
"cdna_length": 8788,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC1",
"gene_hgnc_id": 12362,
"hgvs_c": "c.1331C>T",
"hgvs_p": "p.Ser444Leu",
"transcript": "NM_001406596.1",
"protein_id": "NP_001393525.1",
"transcript_support_level": null,
"aa_start": 444,
"aa_end": null,
"aa_length": 1164,
"cds_start": 1331,
"cds_end": null,
"cds_length": 3495,
"cdna_start": 1485,
"cdna_end": null,
"cdna_length": 8535,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC1",
"gene_hgnc_id": 12362,
"hgvs_c": "c.1331C>T",
"hgvs_p": "p.Ser444Leu",
"transcript": "ENST00000643875.1",
"protein_id": "ENSP00000495158.1",
"transcript_support_level": null,
"aa_start": 444,
"aa_end": null,
"aa_length": 1164,
"cds_start": 1331,
"cds_end": null,
"cds_length": 3495,
"cdna_start": 1545,
"cdna_end": null,
"cdna_length": 6591,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC1",
"gene_hgnc_id": 12362,
"hgvs_c": "c.1331C>T",
"hgvs_p": "p.Ser444Leu",
"transcript": "ENST00000646440.2",
"protein_id": "ENSP00000495830.2",
"transcript_support_level": null,
"aa_start": 444,
"aa_end": null,
"aa_length": 1164,
"cds_start": 1331,
"cds_end": null,
"cds_length": 3495,
"cdna_start": 1665,
"cdna_end": null,
"cdna_length": 8715,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC1",
"gene_hgnc_id": 12362,
"hgvs_c": "c.1331C>T",
"hgvs_p": "p.Ser444Leu",
"transcript": "ENST00000646625.1",
"protein_id": "ENSP00000496263.1",
"transcript_support_level": null,
"aa_start": 444,
"aa_end": null,
"aa_length": 1164,
"cds_start": 1331,
"cds_end": null,
"cds_length": 3495,
"cdna_start": 1536,
"cdna_end": null,
"cdna_length": 8582,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC1",
"gene_hgnc_id": 12362,
"hgvs_c": "c.1328C>T",
"hgvs_p": "p.Ser443Leu",
"transcript": "NM_001162426.2",
"protein_id": "NP_001155898.1",
"transcript_support_level": null,
"aa_start": 443,
"aa_end": null,
"aa_length": 1163,
"cds_start": 1328,
"cds_end": null,
"cds_length": 3492,
"cdna_start": 1545,
"cdna_end": null,
"cdna_length": 8595,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC1",
"gene_hgnc_id": 12362,
"hgvs_c": "c.1328C>T",
"hgvs_p": "p.Ser443Leu",
"transcript": "NM_001406597.1",
"protein_id": "NP_001393526.1",
"transcript_support_level": null,
"aa_start": 443,
"aa_end": null,
"aa_length": 1163,
"cds_start": 1328,
"cds_end": null,
"cds_length": 3492,
"cdna_start": 1516,
"cdna_end": null,
"cdna_length": 8566,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC1",
"gene_hgnc_id": 12362,
"hgvs_c": "c.1328C>T",
"hgvs_p": "p.Ser443Leu",
"transcript": "NM_001406598.1",
"protein_id": "NP_001393527.1",
"transcript_support_level": null,
"aa_start": 443,
"aa_end": null,
"aa_length": 1163,
"cds_start": 1328,
"cds_end": null,
"cds_length": 3492,
"cdna_start": 1541,
"cdna_end": null,
"cdna_length": 8591,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC1",
"gene_hgnc_id": 12362,
"hgvs_c": "c.1328C>T",
"hgvs_p": "p.Ser443Leu",
"transcript": "NM_001406599.1",
"protein_id": "NP_001393528.1",
"transcript_support_level": null,
"aa_start": 443,
"aa_end": null,
"aa_length": 1163,
"cds_start": 1328,
"cds_end": null,
"cds_length": 3492,
"cdna_start": 1764,
"cdna_end": null,
"cdna_length": 8814,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC1",
"gene_hgnc_id": 12362,
"hgvs_c": "c.1328C>T",
"hgvs_p": "p.Ser443Leu",
"transcript": "NM_001406600.1",
"protein_id": "NP_001393529.1",
"transcript_support_level": null,
"aa_start": 443,
"aa_end": null,
"aa_length": 1163,
"cds_start": 1328,
"cds_end": null,
"cds_length": 3492,
"cdna_start": 1735,
"cdna_end": null,
"cdna_length": 8785,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC1",
"gene_hgnc_id": 12362,
"hgvs_c": "c.1328C>T",
"hgvs_p": "p.Ser443Leu",
"transcript": "ENST00000475903.7",
"protein_id": "ENSP00000496126.2",
"transcript_support_level": 4,
"aa_start": 443,
"aa_end": null,
"aa_length": 1163,
"cds_start": 1328,
"cds_end": null,
"cds_length": 3492,
"cdna_start": 1485,
"cdna_end": null,
"cdna_length": 8535,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC1",
"gene_hgnc_id": 12362,
"hgvs_c": "c.1328C>T",
"hgvs_p": "p.Ser443Leu",
"transcript": "ENST00000642617.1",
"protein_id": "ENSP00000493773.1",
"transcript_support_level": null,
"aa_start": 443,
"aa_end": null,
"aa_length": 1163,
"cds_start": 1328,
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"cdna_start": 1552,
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"cdna_length": 4039,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC1",
"gene_hgnc_id": 12362,
"hgvs_c": "c.1328C>T",
"hgvs_p": "p.Ser443Leu",
"transcript": "ENST00000644097.1",
"protein_id": "ENSP00000494682.1",
"transcript_support_level": null,
"aa_start": 443,
"aa_end": null,
"aa_length": 1163,
"cds_start": 1328,
"cds_end": null,
"cds_length": 3492,
"cdna_start": 1669,
"cdna_end": null,
"cdna_length": 8715,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC1",
"gene_hgnc_id": 12362,
"hgvs_c": "c.1331C>T",
"hgvs_p": "p.Ser444Leu",
"transcript": "NM_001406601.1",
"protein_id": "NP_001393530.1",
"transcript_support_level": null,
"aa_start": 444,
"aa_end": null,
"aa_length": 1159,
"cds_start": 1331,
"cds_end": null,
"cds_length": 3480,
"cdna_start": 1548,
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"cdna_length": 8583,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC1",
"gene_hgnc_id": 12362,
"hgvs_c": "c.1331C>T",
"hgvs_p": "p.Ser444Leu",
"transcript": "NM_001406602.1",
"protein_id": "NP_001393531.1",
"transcript_support_level": null,
"aa_start": 444,
"aa_end": null,
"aa_length": 1159,
"cds_start": 1331,
"cds_end": null,
"cds_length": 3480,
"cdna_start": 1519,
"cdna_end": null,
"cdna_length": 8554,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC1",
"gene_hgnc_id": 12362,
"hgvs_c": "c.1331C>T",
"hgvs_p": "p.Ser444Leu",
"transcript": "ENST00000643583.1",
"protein_id": "ENSP00000494685.1",
"transcript_support_level": null,
"aa_start": 444,
"aa_end": null,
"aa_length": 1159,
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"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 13,
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"exon_count": 23,
"intron_rank": null,
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"gene_symbol": "TSC1",
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"hgvs_c": "n.*228C>T",
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"transcript": "ENST00000714462.1",
"protein_id": "ENSP00000519723.1",
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"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": 3966,
"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": 13,
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"exon_count": 23,
"intron_rank": null,
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"gene_symbol": "TSC1",
"gene_hgnc_id": 12362,
"hgvs_c": "n.*309C>T",
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"transcript": "ENST00000714491.1",
"protein_id": "ENSP00000519745.1",
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"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": 4006,
"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": 12,
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"exon_count": 22,
"intron_rank": null,
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"gene_symbol": "TSC1",
"gene_hgnc_id": 12362,
"hgvs_c": "n.*1228C>T",
"hgvs_p": null,
"transcript": "ENST00000714492.1",
"protein_id": "ENSP00000519746.1",
"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": 4750,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "TSC1",
"gene_hgnc_id": 12362,
"dbsnp": "rs118203512",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.04808497428894043,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.4000000059604645,
"splice_prediction_selected": "Benign",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.251,
"revel_prediction": "Benign",
"alphamissense_score": 0.0539,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.49,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.508,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.114236413534503,
"dbscsnv_ada_prediction": "Benign",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_000368.5",
"gene_symbol": "TSC1",
"hgnc_id": 12362,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1331C>T",
"hgvs_p": "p.Ser444Leu"
}
],
"clinvar_disease": "Isolated focal cortical dysplasia type II,Lymphangiomyomatosis,Tuberous sclerosis 1,Tuberous sclerosis syndrome",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "Tuberous sclerosis syndrome|Tuberous sclerosis 1;Isolated focal cortical dysplasia type II;Lymphangiomyomatosis",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}