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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: 9-132896553-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=132896553&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 132896553,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000298552.9",
"consequences": [
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC1",
"gene_hgnc_id": 12362,
"hgvs_c": "c.3177C>T",
"hgvs_p": "p.Phe1059Phe",
"transcript": "NM_000368.5",
"protein_id": "NP_000359.1",
"transcript_support_level": null,
"aa_start": 1059,
"aa_end": null,
"aa_length": 1164,
"cds_start": 3177,
"cds_end": null,
"cds_length": 3495,
"cdna_start": 3394,
"cdna_end": null,
"cdna_length": 8598,
"mane_select": "ENST00000298552.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC1",
"gene_hgnc_id": 12362,
"hgvs_c": "c.3177C>T",
"hgvs_p": "p.Phe1059Phe",
"transcript": "ENST00000298552.9",
"protein_id": "ENSP00000298552.3",
"transcript_support_level": 1,
"aa_start": 1059,
"aa_end": null,
"aa_length": 1164,
"cds_start": 3177,
"cds_end": null,
"cds_length": 3495,
"cdna_start": 3394,
"cdna_end": null,
"cdna_length": 8598,
"mane_select": "NM_000368.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC1",
"gene_hgnc_id": 12362,
"hgvs_c": "c.3177C>T",
"hgvs_p": "p.Phe1059Phe",
"transcript": "ENST00000490179.4",
"protein_id": "ENSP00000495533.2",
"transcript_support_level": 3,
"aa_start": 1059,
"aa_end": null,
"aa_length": 1164,
"cds_start": 3177,
"cds_end": null,
"cds_length": 3495,
"cdna_start": 3486,
"cdna_end": null,
"cdna_length": 8690,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC1",
"gene_hgnc_id": 12362,
"hgvs_c": "c.3177C>T",
"hgvs_p": "p.Phe1059Phe",
"transcript": "NM_001406592.1",
"protein_id": "NP_001393521.1",
"transcript_support_level": null,
"aa_start": 1059,
"aa_end": null,
"aa_length": 1164,
"cds_start": 3177,
"cds_end": null,
"cds_length": 3495,
"cdna_start": 3365,
"cdna_end": null,
"cdna_length": 8569,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC1",
"gene_hgnc_id": 12362,
"hgvs_c": "c.3177C>T",
"hgvs_p": "p.Phe1059Phe",
"transcript": "NM_001406593.1",
"protein_id": "NP_001393522.1",
"transcript_support_level": null,
"aa_start": 1059,
"aa_end": null,
"aa_length": 1164,
"cds_start": 3177,
"cds_end": null,
"cds_length": 3495,
"cdna_start": 3390,
"cdna_end": null,
"cdna_length": 8594,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC1",
"gene_hgnc_id": 12362,
"hgvs_c": "c.3177C>T",
"hgvs_p": "p.Phe1059Phe",
"transcript": "NM_001406594.1",
"protein_id": "NP_001393523.1",
"transcript_support_level": null,
"aa_start": 1059,
"aa_end": null,
"aa_length": 1164,
"cds_start": 3177,
"cds_end": null,
"cds_length": 3495,
"cdna_start": 3613,
"cdna_end": null,
"cdna_length": 8817,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC1",
"gene_hgnc_id": 12362,
"hgvs_c": "c.3177C>T",
"hgvs_p": "p.Phe1059Phe",
"transcript": "NM_001406595.1",
"protein_id": "NP_001393524.1",
"transcript_support_level": null,
"aa_start": 1059,
"aa_end": null,
"aa_length": 1164,
"cds_start": 3177,
"cds_end": null,
"cds_length": 3495,
"cdna_start": 3584,
"cdna_end": null,
"cdna_length": 8788,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC1",
"gene_hgnc_id": 12362,
"hgvs_c": "c.3177C>T",
"hgvs_p": "p.Phe1059Phe",
"transcript": "NM_001406596.1",
"protein_id": "NP_001393525.1",
"transcript_support_level": null,
"aa_start": 1059,
"aa_end": null,
"aa_length": 1164,
"cds_start": 3177,
"cds_end": null,
"cds_length": 3495,
"cdna_start": 3331,
"cdna_end": null,
"cdna_length": 8535,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC1",
"gene_hgnc_id": 12362,
"hgvs_c": "c.3177C>T",
"hgvs_p": "p.Phe1059Phe",
"transcript": "ENST00000643875.1",
"protein_id": "ENSP00000495158.1",
"transcript_support_level": null,
"aa_start": 1059,
"aa_end": null,
"aa_length": 1164,
"cds_start": 3177,
"cds_end": null,
"cds_length": 3495,
"cdna_start": 3391,
"cdna_end": null,
"cdna_length": 6591,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC1",
"gene_hgnc_id": 12362,
"hgvs_c": "c.3177C>T",
"hgvs_p": "p.Phe1059Phe",
"transcript": "ENST00000646440.2",
"protein_id": "ENSP00000495830.2",
"transcript_support_level": null,
"aa_start": 1059,
"aa_end": null,
"aa_length": 1164,
"cds_start": 3177,
"cds_end": null,
"cds_length": 3495,
"cdna_start": 3511,
"cdna_end": null,
"cdna_length": 8715,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC1",
"gene_hgnc_id": 12362,
"hgvs_c": "c.3177C>T",
"hgvs_p": "p.Phe1059Phe",
"transcript": "ENST00000646625.1",
"protein_id": "ENSP00000496263.1",
"transcript_support_level": null,
"aa_start": 1059,
"aa_end": null,
"aa_length": 1164,
"cds_start": 3177,
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"cds_length": 3495,
"cdna_start": 3382,
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"cdna_length": 8582,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
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"gene_symbol": "TSC1",
"gene_hgnc_id": 12362,
"hgvs_c": "c.3174C>T",
"hgvs_p": "p.Phe1058Phe",
"transcript": "NM_001162426.2",
"protein_id": "NP_001155898.1",
"transcript_support_level": null,
"aa_start": 1058,
"aa_end": null,
"aa_length": 1163,
"cds_start": 3174,
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"cdna_start": 3391,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC1",
"gene_hgnc_id": 12362,
"hgvs_c": "c.3174C>T",
"hgvs_p": "p.Phe1058Phe",
"transcript": "NM_001406597.1",
"protein_id": "NP_001393526.1",
"transcript_support_level": null,
"aa_start": 1058,
"aa_end": null,
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"cds_start": 3174,
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"cdna_start": 3362,
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"mane_select": null,
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"feature": null
},
{
"aa_ref": "F",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
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"gene_symbol": "TSC1",
"gene_hgnc_id": 12362,
"hgvs_c": "c.3174C>T",
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"transcript": "NM_001406598.1",
"protein_id": "NP_001393527.1",
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"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC1",
"gene_hgnc_id": 12362,
"hgvs_c": "c.3174C>T",
"hgvs_p": "p.Phe1058Phe",
"transcript": "NM_001406599.1",
"protein_id": "NP_001393528.1",
"transcript_support_level": null,
"aa_start": 1058,
"aa_end": null,
"aa_length": 1163,
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"cdna_start": 3610,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
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"gene_symbol": "TSC1",
"gene_hgnc_id": 12362,
"hgvs_c": "c.3174C>T",
"hgvs_p": "p.Phe1058Phe",
"transcript": "NM_001406600.1",
"protein_id": "NP_001393529.1",
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "F",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC1",
"gene_hgnc_id": 12362,
"hgvs_c": "c.3174C>T",
"hgvs_p": "p.Phe1058Phe",
"transcript": "ENST00000475903.7",
"protein_id": "ENSP00000496126.2",
"transcript_support_level": 4,
"aa_start": 1058,
"aa_end": null,
"aa_length": 1163,
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"cdna_start": 3331,
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"mane_select": null,
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"feature": null
},
{
"aa_ref": "F",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC1",
"gene_hgnc_id": 12362,
"hgvs_c": "c.3174C>T",
"hgvs_p": "p.Phe1058Phe",
"transcript": "ENST00000642617.1",
"protein_id": "ENSP00000493773.1",
"transcript_support_level": null,
"aa_start": 1058,
"aa_end": null,
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"cdna_start": 3398,
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 23,
"exon_rank_end": null,
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"intron_rank": null,
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"gene_symbol": "TSC1",
"gene_hgnc_id": 12362,
"hgvs_c": "c.3174C>T",
"hgvs_p": "p.Phe1058Phe",
"transcript": "ENST00000644097.1",
"protein_id": "ENSP00000494682.1",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC1",
"gene_hgnc_id": 12362,
"hgvs_c": "c.3162C>T",
"hgvs_p": "p.Phe1054Phe",
"transcript": "NM_001406601.1",
"protein_id": "NP_001393530.1",
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"aa_end": null,
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 23,
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"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC1",
"gene_hgnc_id": 12362,
"hgvs_c": "c.3162C>T",
"hgvs_p": "p.Phe1054Phe",
"transcript": "NM_001406602.1",
"protein_id": "NP_001393531.1",
"transcript_support_level": null,
"aa_start": 1054,
"aa_end": null,
"aa_length": 1159,
"cds_start": 3162,
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"cdna_start": 3350,
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"cdna_length": 8554,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC1",
"gene_hgnc_id": 12362,
"hgvs_c": "c.3162C>T",
"hgvs_p": "p.Phe1054Phe",
"transcript": "ENST00000643583.1",
"protein_id": "ENSP00000494685.1",
"transcript_support_level": null,
"aa_start": 1054,
"aa_end": null,
"aa_length": 1159,
"cds_start": 3162,
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"cdna_start": 3378,
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"cdna_length": 3953,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
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{
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{
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{
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"gene_symbol": "TSC1",
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}
],
"gene_symbol": "TSC1",
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"dbsnp": "rs753263747",
"frequency_reference_population": 6.8405257e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84053e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
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"gnomad_exomes_homalt": 0,
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"gnomad_mito_homoplasmic": null,
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"computational_score_selected": 0.15800000727176666,
"computational_prediction_selected": "Benign",
"computational_source_selected": "REVEL",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.158,
"revel_prediction": "Benign",
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.78,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.602,
"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": -9,
"acmg_classification": "Benign",
"acmg_criteria": "PM2,BP4_Moderate,BP6_Very_Strong,BP7",
"acmg_by_gene": [
{
"score": -9,
"benign_score": 11,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate",
"BP6_Very_Strong",
"BP7"
],
"verdict": "Benign",
"transcript": "ENST00000298552.9",
"gene_symbol": "TSC1",
"hgnc_id": 12362,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.3177C>T",
"hgvs_p": "p.Phe1059Phe"
}
],
"clinvar_disease": "Tuberous sclerosis 1",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:1 B:1",
"phenotype_combined": "Tuberous sclerosis 1",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}