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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: 8-15623104-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=15623104&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 15623104,
"ref": "C",
"alt": "T",
"effect": "stop_gained",
"transcript": "NM_001413679.1",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUSC3",
"gene_hgnc_id": 30242,
"hgvs_c": "c.163C>T",
"hgvs_p": "p.Gln55*",
"transcript": "NM_006765.4",
"protein_id": "NP_006756.2",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 348,
"cds_start": 163,
"cds_end": null,
"cds_length": 1047,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000503731.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006765.4"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUSC3",
"gene_hgnc_id": 30242,
"hgvs_c": "c.163C>T",
"hgvs_p": "p.Gln55*",
"transcript": "ENST00000503731.6",
"protein_id": "ENSP00000424544.1",
"transcript_support_level": 1,
"aa_start": 55,
"aa_end": null,
"aa_length": 348,
"cds_start": 163,
"cds_end": null,
"cds_length": 1047,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006765.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000503731.6"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUSC3",
"gene_hgnc_id": 30242,
"hgvs_c": "c.163C>T",
"hgvs_p": "p.Gln55*",
"transcript": "ENST00000382020.8",
"protein_id": "ENSP00000371450.4",
"transcript_support_level": 1,
"aa_start": 55,
"aa_end": null,
"aa_length": 347,
"cds_start": 163,
"cds_end": null,
"cds_length": 1044,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000382020.8"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUSC3",
"gene_hgnc_id": 30242,
"hgvs_c": "c.163C>T",
"hgvs_p": "p.Gln55*",
"transcript": "NM_001413679.1",
"protein_id": "NP_001400608.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 408,
"cds_start": 163,
"cds_end": null,
"cds_length": 1227,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413679.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUSC3",
"gene_hgnc_id": 30242,
"hgvs_c": "c.163C>T",
"hgvs_p": "p.Gln55*",
"transcript": "NM_001413684.1",
"protein_id": "NP_001400613.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 394,
"cds_start": 163,
"cds_end": null,
"cds_length": 1185,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413684.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUSC3",
"gene_hgnc_id": 30242,
"hgvs_c": "c.238C>T",
"hgvs_p": "p.Gln80*",
"transcript": "ENST00000947282.1",
"protein_id": "ENSP00000617341.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 373,
"cds_start": 238,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947282.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUSC3",
"gene_hgnc_id": 30242,
"hgvs_c": "c.163C>T",
"hgvs_p": "p.Gln55*",
"transcript": "NM_001413673.1",
"protein_id": "NP_001400602.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 359,
"cds_start": 163,
"cds_end": null,
"cds_length": 1080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413673.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUSC3",
"gene_hgnc_id": 30242,
"hgvs_c": "c.163C>T",
"hgvs_p": "p.Gln55*",
"transcript": "ENST00000947283.1",
"protein_id": "ENSP00000617342.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 352,
"cds_start": 163,
"cds_end": null,
"cds_length": 1059,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947283.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUSC3",
"gene_hgnc_id": 30242,
"hgvs_c": "c.163C>T",
"hgvs_p": "p.Gln55*",
"transcript": "NM_001413686.1",
"protein_id": "NP_001400615.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 351,
"cds_start": 163,
"cds_end": null,
"cds_length": 1056,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413686.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUSC3",
"gene_hgnc_id": 30242,
"hgvs_c": "c.163C>T",
"hgvs_p": "p.Gln55*",
"transcript": "NM_001413683.1",
"protein_id": "NP_001400612.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 350,
"cds_start": 163,
"cds_end": null,
"cds_length": 1053,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413683.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUSC3",
"gene_hgnc_id": 30242,
"hgvs_c": "c.163C>T",
"hgvs_p": "p.Gln55*",
"transcript": "NM_001356429.2",
"protein_id": "NP_001343358.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 348,
"cds_start": 163,
"cds_end": null,
"cds_length": 1047,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001356429.2"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUSC3",
"gene_hgnc_id": 30242,
"hgvs_c": "c.163C>T",
"hgvs_p": "p.Gln55*",
"transcript": "NM_001413583.1",
"protein_id": "NP_001400512.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 348,
"cds_start": 163,
"cds_end": null,
"cds_length": 1047,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413583.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUSC3",
"gene_hgnc_id": 30242,
"hgvs_c": "c.163C>T",
"hgvs_p": "p.Gln55*",
"transcript": "NM_001413689.1",
"protein_id": "NP_001400618.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 348,
"cds_start": 163,
"cds_end": null,
"cds_length": 1047,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413689.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUSC3",
"gene_hgnc_id": 30242,
"hgvs_c": "c.163C>T",
"hgvs_p": "p.Gln55*",
"transcript": "ENST00000877722.1",
"protein_id": "ENSP00000547781.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 348,
"cds_start": 163,
"cds_end": null,
"cds_length": 1047,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877722.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUSC3",
"gene_hgnc_id": 30242,
"hgvs_c": "c.163C>T",
"hgvs_p": "p.Gln55*",
"transcript": "ENST00000928815.1",
"protein_id": "ENSP00000598874.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 348,
"cds_start": 163,
"cds_end": null,
"cds_length": 1047,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928815.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUSC3",
"gene_hgnc_id": 30242,
"hgvs_c": "c.163C>T",
"hgvs_p": "p.Gln55*",
"transcript": "NM_178234.2",
"protein_id": "NP_839952.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 347,
"cds_start": 163,
"cds_end": null,
"cds_length": 1044,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_178234.2"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUSC3",
"gene_hgnc_id": 30242,
"hgvs_c": "c.163C>T",
"hgvs_p": "p.Gln55*",
"transcript": "NM_001413690.1",
"protein_id": "NP_001400619.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 345,
"cds_start": 163,
"cds_end": null,
"cds_length": 1038,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413690.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUSC3",
"gene_hgnc_id": 30242,
"hgvs_c": "c.163C>T",
"hgvs_p": "p.Gln55*",
"transcript": "NM_001413680.1",
"protein_id": "NP_001400609.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 344,
"cds_start": 163,
"cds_end": null,
"cds_length": 1035,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413680.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUSC3",
"gene_hgnc_id": 30242,
"hgvs_c": "c.163C>T",
"hgvs_p": "p.Gln55*",
"transcript": "NM_001413682.1",
"protein_id": "NP_001400611.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 332,
"cds_start": 163,
"cds_end": null,
"cds_length": 999,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413682.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUSC3",
"gene_hgnc_id": 30242,
"hgvs_c": "c.103C>T",
"hgvs_p": "p.Gln35*",
"transcript": "NM_001413670.1",
"protein_id": "NP_001400599.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 327,
"cds_start": 103,
"cds_end": null,
"cds_length": 984,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413670.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUSC3",
"gene_hgnc_id": 30242,
"hgvs_c": "c.163C>T",
"hgvs_p": "p.Gln55*",
"transcript": "NM_001413675.1",
"protein_id": "NP_001400604.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 322,
"cds_start": 163,
"cds_end": null,
"cds_length": 969,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413675.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUSC3",
"gene_hgnc_id": 30242,
"hgvs_c": "c.163C>T",
"hgvs_p": "p.Gln55*",
"transcript": "NM_001413685.1",
"protein_id": "NP_001400614.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 321,
"cds_start": 163,
"cds_end": null,
"cds_length": 966,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413685.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
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{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
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"exon_count": 9,
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{
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"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
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"exon_count": 9,
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"gene_symbol": "TUSC3",
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"hgvs_c": "n.331C>T",
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"biotype": "pseudogene",
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},
{
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"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
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"exon_count": 12,
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"gene_symbol": "TUSC3",
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"hgvs_c": "n.331C>T",
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"transcript": "NR_182199.1",
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"biotype": "pseudogene",
"feature": "NR_182199.1"
}
],
"gene_symbol": "TUSC3",
"gene_hgnc_id": 30242,
"dbsnp": "rs387906804",
"frequency_reference_population": 6.841827e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84183e-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": 0.6600000262260437,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.66,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.568,
"phylop100way_prediction": "Pathogenic",
"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": 12,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Moderate",
"acmg_by_gene": [
{
"score": 12,
"benign_score": 0,
"pathogenic_score": 12,
"criteria": [
"PVS1",
"PM2",
"PP5_Moderate"
],
"verdict": "Pathogenic",
"transcript": "NM_001413679.1",
"gene_symbol": "TUSC3",
"hgnc_id": 30242,
"effects": [
"stop_gained"
],
"inheritance_mode": "AR",
"hgvs_c": "c.163C>T",
"hgvs_p": "p.Gln55*"
}
],
"clinvar_disease": " autosomal recessive 7,Abnormality of the nervous system,Intellectual disability",
"clinvar_classification": "Likely pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LP:1",
"phenotype_combined": "Intellectual disability, autosomal recessive 7|Abnormality of the nervous system",
"pathogenicity_classification_combined": "Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}