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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: 9-132897458-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=132897458&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 132897458,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000298552.9",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC1",
"gene_hgnc_id": 12362,
"hgvs_c": "c.2778G>C",
"hgvs_p": "p.Gln926His",
"transcript": "NM_000368.5",
"protein_id": "NP_000359.1",
"transcript_support_level": null,
"aa_start": 926,
"aa_end": null,
"aa_length": 1164,
"cds_start": 2778,
"cds_end": null,
"cds_length": 3495,
"cdna_start": 2995,
"cdna_end": null,
"cdna_length": 8598,
"mane_select": "ENST00000298552.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC1",
"gene_hgnc_id": 12362,
"hgvs_c": "c.2778G>C",
"hgvs_p": "p.Gln926His",
"transcript": "ENST00000298552.9",
"protein_id": "ENSP00000298552.3",
"transcript_support_level": 1,
"aa_start": 926,
"aa_end": null,
"aa_length": 1164,
"cds_start": 2778,
"cds_end": null,
"cds_length": 3495,
"cdna_start": 2995,
"cdna_end": null,
"cdna_length": 8598,
"mane_select": "NM_000368.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC1",
"gene_hgnc_id": 12362,
"hgvs_c": "c.2778G>C",
"hgvs_p": "p.Gln926His",
"transcript": "ENST00000490179.4",
"protein_id": "ENSP00000495533.2",
"transcript_support_level": 3,
"aa_start": 926,
"aa_end": null,
"aa_length": 1164,
"cds_start": 2778,
"cds_end": null,
"cds_length": 3495,
"cdna_start": 3087,
"cdna_end": null,
"cdna_length": 8690,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC1",
"gene_hgnc_id": 12362,
"hgvs_c": "c.2778G>C",
"hgvs_p": "p.Gln926His",
"transcript": "NM_001406592.1",
"protein_id": "NP_001393521.1",
"transcript_support_level": null,
"aa_start": 926,
"aa_end": null,
"aa_length": 1164,
"cds_start": 2778,
"cds_end": null,
"cds_length": 3495,
"cdna_start": 2966,
"cdna_end": null,
"cdna_length": 8569,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC1",
"gene_hgnc_id": 12362,
"hgvs_c": "c.2778G>C",
"hgvs_p": "p.Gln926His",
"transcript": "NM_001406593.1",
"protein_id": "NP_001393522.1",
"transcript_support_level": null,
"aa_start": 926,
"aa_end": null,
"aa_length": 1164,
"cds_start": 2778,
"cds_end": null,
"cds_length": 3495,
"cdna_start": 2991,
"cdna_end": null,
"cdna_length": 8594,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC1",
"gene_hgnc_id": 12362,
"hgvs_c": "c.2778G>C",
"hgvs_p": "p.Gln926His",
"transcript": "NM_001406594.1",
"protein_id": "NP_001393523.1",
"transcript_support_level": null,
"aa_start": 926,
"aa_end": null,
"aa_length": 1164,
"cds_start": 2778,
"cds_end": null,
"cds_length": 3495,
"cdna_start": 3214,
"cdna_end": null,
"cdna_length": 8817,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC1",
"gene_hgnc_id": 12362,
"hgvs_c": "c.2778G>C",
"hgvs_p": "p.Gln926His",
"transcript": "NM_001406595.1",
"protein_id": "NP_001393524.1",
"transcript_support_level": null,
"aa_start": 926,
"aa_end": null,
"aa_length": 1164,
"cds_start": 2778,
"cds_end": null,
"cds_length": 3495,
"cdna_start": 3185,
"cdna_end": null,
"cdna_length": 8788,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC1",
"gene_hgnc_id": 12362,
"hgvs_c": "c.2778G>C",
"hgvs_p": "p.Gln926His",
"transcript": "NM_001406596.1",
"protein_id": "NP_001393525.1",
"transcript_support_level": null,
"aa_start": 926,
"aa_end": null,
"aa_length": 1164,
"cds_start": 2778,
"cds_end": null,
"cds_length": 3495,
"cdna_start": 2932,
"cdna_end": null,
"cdna_length": 8535,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC1",
"gene_hgnc_id": 12362,
"hgvs_c": "c.2778G>C",
"hgvs_p": "p.Gln926His",
"transcript": "ENST00000643875.1",
"protein_id": "ENSP00000495158.1",
"transcript_support_level": null,
"aa_start": 926,
"aa_end": null,
"aa_length": 1164,
"cds_start": 2778,
"cds_end": null,
"cds_length": 3495,
"cdna_start": 2992,
"cdna_end": null,
"cdna_length": 6591,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC1",
"gene_hgnc_id": 12362,
"hgvs_c": "c.2778G>C",
"hgvs_p": "p.Gln926His",
"transcript": "ENST00000646440.2",
"protein_id": "ENSP00000495830.2",
"transcript_support_level": null,
"aa_start": 926,
"aa_end": null,
"aa_length": 1164,
"cds_start": 2778,
"cds_end": null,
"cds_length": 3495,
"cdna_start": 3112,
"cdna_end": null,
"cdna_length": 8715,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC1",
"gene_hgnc_id": 12362,
"hgvs_c": "c.2778G>C",
"hgvs_p": "p.Gln926His",
"transcript": "ENST00000646625.1",
"protein_id": "ENSP00000496263.1",
"transcript_support_level": null,
"aa_start": 926,
"aa_end": null,
"aa_length": 1164,
"cds_start": 2778,
"cds_end": null,
"cds_length": 3495,
"cdna_start": 2983,
"cdna_end": null,
"cdna_length": 8582,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
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"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC1",
"gene_hgnc_id": 12362,
"hgvs_c": "c.2775G>C",
"hgvs_p": "p.Gln925His",
"transcript": "NM_001162426.2",
"protein_id": "NP_001155898.1",
"transcript_support_level": null,
"aa_start": 925,
"aa_end": null,
"aa_length": 1163,
"cds_start": 2775,
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"cds_length": 3492,
"cdna_start": 2992,
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"cdna_length": 8595,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC1",
"gene_hgnc_id": 12362,
"hgvs_c": "c.2775G>C",
"hgvs_p": "p.Gln925His",
"transcript": "NM_001406597.1",
"protein_id": "NP_001393526.1",
"transcript_support_level": null,
"aa_start": 925,
"aa_end": null,
"aa_length": 1163,
"cds_start": 2775,
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"cdna_start": 2963,
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"cdna_length": 8566,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"aa_alt": "H",
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
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"gene_symbol": "TSC1",
"gene_hgnc_id": 12362,
"hgvs_c": "c.2775G>C",
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"transcript": "NM_001406598.1",
"protein_id": "NP_001393527.1",
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC1",
"gene_hgnc_id": 12362,
"hgvs_c": "c.2775G>C",
"hgvs_p": "p.Gln925His",
"transcript": "NM_001406599.1",
"protein_id": "NP_001393528.1",
"transcript_support_level": null,
"aa_start": 925,
"aa_end": null,
"aa_length": 1163,
"cds_start": 2775,
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"cdna_start": 3211,
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"mane_select": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
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"gene_symbol": "TSC1",
"gene_hgnc_id": 12362,
"hgvs_c": "c.2775G>C",
"hgvs_p": "p.Gln925His",
"transcript": "NM_001406600.1",
"protein_id": "NP_001393529.1",
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"mane_select": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
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"gene_symbol": "TSC1",
"gene_hgnc_id": 12362,
"hgvs_c": "c.2775G>C",
"hgvs_p": "p.Gln925His",
"transcript": "ENST00000475903.7",
"protein_id": "ENSP00000496126.2",
"transcript_support_level": 4,
"aa_start": 925,
"aa_end": null,
"aa_length": 1163,
"cds_start": 2775,
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"cdna_start": 2932,
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"mane_select": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC1",
"gene_hgnc_id": 12362,
"hgvs_c": "c.2775G>C",
"hgvs_p": "p.Gln925His",
"transcript": "ENST00000642617.1",
"protein_id": "ENSP00000493773.1",
"transcript_support_level": null,
"aa_start": 925,
"aa_end": null,
"aa_length": 1163,
"cds_start": 2775,
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"cdna_start": 2999,
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": 21,
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"exon_count": 23,
"intron_rank": null,
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"gene_symbol": "TSC1",
"gene_hgnc_id": 12362,
"hgvs_c": "c.2775G>C",
"hgvs_p": "p.Gln925His",
"transcript": "ENST00000644097.1",
"protein_id": "ENSP00000494682.1",
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},
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"protein_coding": true,
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"consequences": [
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],
"exon_rank": 21,
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"exon_count": 23,
"intron_rank": null,
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"gene_symbol": "TSC1",
"gene_hgnc_id": 12362,
"hgvs_c": "c.2763G>C",
"hgvs_p": "p.Gln921His",
"transcript": "NM_001406601.1",
"protein_id": "NP_001393530.1",
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},
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"consequences": [
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],
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"intron_rank": null,
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"gene_symbol": "TSC1",
"gene_hgnc_id": 12362,
"hgvs_c": "c.2763G>C",
"hgvs_p": "p.Gln921His",
"transcript": "NM_001406602.1",
"protein_id": "NP_001393531.1",
"transcript_support_level": null,
"aa_start": 921,
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"aa_length": 1159,
"cds_start": 2763,
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"cdna_start": 2951,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC1",
"gene_hgnc_id": 12362,
"hgvs_c": "c.2763G>C",
"hgvs_p": "p.Gln921His",
"transcript": "ENST00000643583.1",
"protein_id": "ENSP00000494685.1",
"transcript_support_level": null,
"aa_start": 921,
"aa_end": null,
"aa_length": 1159,
"cds_start": 2763,
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"cdna_start": 2979,
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"cdna_length": 3953,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 21,
"exon_rank_end": null,
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},
{
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},
{
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},
{
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"gene_symbol": "TSC1",
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"feature": null
}
],
"gene_symbol": "TSC1",
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"dbsnp": "rs1554813423",
"frequency_reference_population": 6.8404694e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84047e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5164717435836792,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.594,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9625,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.2,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 1.165,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000298552.9",
"gene_symbol": "TSC1",
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"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2778G>C",
"hgvs_p": "p.Gln926His"
}
],
"clinvar_disease": "Hereditary cancer-predisposing syndrome,Tuberous sclerosis 1",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "Tuberous sclerosis 1|Hereditary cancer-predisposing syndrome",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}