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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: 8-17646096-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=17646096&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 17646096,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001363059.2",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTUS1",
"gene_hgnc_id": 29789,
"hgvs_c": "c.3643A>G",
"hgvs_p": "p.Lys1215Glu",
"transcript": "NM_001363059.2",
"protein_id": "NP_001349988.1",
"transcript_support_level": null,
"aa_start": 1215,
"aa_end": null,
"aa_length": 1270,
"cds_start": 3643,
"cds_end": null,
"cds_length": 3813,
"cdna_start": 3831,
"cdna_end": null,
"cdna_length": 6125,
"mane_select": "ENST00000693296.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTUS1",
"gene_hgnc_id": 29789,
"hgvs_c": "c.3643A>G",
"hgvs_p": "p.Lys1215Glu",
"transcript": "ENST00000693296.1",
"protein_id": "ENSP00000509719.1",
"transcript_support_level": null,
"aa_start": 1215,
"aa_end": null,
"aa_length": 1270,
"cds_start": 3643,
"cds_end": null,
"cds_length": 3813,
"cdna_start": 3831,
"cdna_end": null,
"cdna_length": 6125,
"mane_select": "NM_001363059.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTUS1",
"gene_hgnc_id": 29789,
"hgvs_c": "c.3643A>G",
"hgvs_p": "p.Lys1215Glu",
"transcript": "ENST00000262102.10",
"protein_id": "ENSP00000262102.6",
"transcript_support_level": 1,
"aa_start": 1215,
"aa_end": null,
"aa_length": 1270,
"cds_start": 3643,
"cds_end": null,
"cds_length": 3813,
"cdna_start": 3868,
"cdna_end": null,
"cdna_length": 6160,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTUS1",
"gene_hgnc_id": 29789,
"hgvs_c": "c.1141A>G",
"hgvs_p": "p.Lys381Glu",
"transcript": "ENST00000297488.10",
"protein_id": "ENSP00000297488.6",
"transcript_support_level": 1,
"aa_start": 381,
"aa_end": null,
"aa_length": 436,
"cds_start": 1141,
"cds_end": null,
"cds_length": 1311,
"cdna_start": 1434,
"cdna_end": null,
"cdna_length": 3731,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTUS1",
"gene_hgnc_id": 29789,
"hgvs_c": "n.341A>G",
"hgvs_p": null,
"transcript": "ENST00000518889.1",
"protein_id": null,
"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": 568,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTUS1",
"gene_hgnc_id": 29789,
"hgvs_c": "n.*1391A>G",
"hgvs_p": null,
"transcript": "ENST00000520196.5",
"protein_id": "ENSP00000431016.1",
"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": 5205,
"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": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTUS1",
"gene_hgnc_id": 29789,
"hgvs_c": "n.*1391A>G",
"hgvs_p": null,
"transcript": "ENST00000520196.5",
"protein_id": "ENSP00000431016.1",
"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": 5205,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTUS1",
"gene_hgnc_id": 29789,
"hgvs_c": "c.3643A>G",
"hgvs_p": "p.Lys1215Glu",
"transcript": "NM_001001924.3",
"protein_id": "NP_001001924.1",
"transcript_support_level": null,
"aa_start": 1215,
"aa_end": null,
"aa_length": 1270,
"cds_start": 3643,
"cds_end": null,
"cds_length": 3813,
"cdna_start": 4117,
"cdna_end": null,
"cdna_length": 6411,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTUS1",
"gene_hgnc_id": 29789,
"hgvs_c": "c.3643A>G",
"hgvs_p": "p.Lys1215Glu",
"transcript": "NM_001363058.2",
"protein_id": "NP_001349987.1",
"transcript_support_level": null,
"aa_start": 1215,
"aa_end": null,
"aa_length": 1270,
"cds_start": 3643,
"cds_end": null,
"cds_length": 3813,
"cdna_start": 3889,
"cdna_end": null,
"cdna_length": 6183,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTUS1",
"gene_hgnc_id": 29789,
"hgvs_c": "c.3643A>G",
"hgvs_p": "p.Lys1215Glu",
"transcript": "NM_001363061.2",
"protein_id": "NP_001349990.1",
"transcript_support_level": null,
"aa_start": 1215,
"aa_end": null,
"aa_length": 1270,
"cds_start": 3643,
"cds_end": null,
"cds_length": 3813,
"cdna_start": 3858,
"cdna_end": null,
"cdna_length": 6152,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTUS1",
"gene_hgnc_id": 29789,
"hgvs_c": "c.3481A>G",
"hgvs_p": "p.Lys1161Glu",
"transcript": "NM_001001925.3",
"protein_id": "NP_001001925.1",
"transcript_support_level": null,
"aa_start": 1161,
"aa_end": null,
"aa_length": 1216,
"cds_start": 3481,
"cds_end": null,
"cds_length": 3651,
"cdna_start": 3955,
"cdna_end": null,
"cdna_length": 6249,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTUS1",
"gene_hgnc_id": 29789,
"hgvs_c": "c.3481A>G",
"hgvs_p": "p.Lys1161Glu",
"transcript": "NM_001363062.2",
"protein_id": "NP_001349991.1",
"transcript_support_level": null,
"aa_start": 1161,
"aa_end": null,
"aa_length": 1216,
"cds_start": 3481,
"cds_end": null,
"cds_length": 3651,
"cdna_start": 3669,
"cdna_end": null,
"cdna_length": 5963,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTUS1",
"gene_hgnc_id": 29789,
"hgvs_c": "c.3481A>G",
"hgvs_p": "p.Lys1161Glu",
"transcript": "ENST00000381869.5",
"protein_id": "ENSP00000371293.3",
"transcript_support_level": 5,
"aa_start": 1161,
"aa_end": null,
"aa_length": 1216,
"cds_start": 3481,
"cds_end": null,
"cds_length": 3651,
"cdna_start": 3955,
"cdna_end": null,
"cdna_length": 6256,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTUS1",
"gene_hgnc_id": 29789,
"hgvs_c": "c.3481A>G",
"hgvs_p": "p.Lys1161Glu",
"transcript": "ENST00000519263.5",
"protein_id": "ENSP00000430167.1",
"transcript_support_level": 2,
"aa_start": 1161,
"aa_end": null,
"aa_length": 1216,
"cds_start": 3481,
"cds_end": null,
"cds_length": 3651,
"cdna_start": 3655,
"cdna_end": null,
"cdna_length": 4089,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTUS1",
"gene_hgnc_id": 29789,
"hgvs_c": "c.1384A>G",
"hgvs_p": "p.Lys462Glu",
"transcript": "NM_001001931.3",
"protein_id": "NP_001001931.1",
"transcript_support_level": null,
"aa_start": 462,
"aa_end": null,
"aa_length": 517,
"cds_start": 1384,
"cds_end": null,
"cds_length": 1554,
"cdna_start": 1472,
"cdna_end": null,
"cdna_length": 3766,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTUS1",
"gene_hgnc_id": 29789,
"hgvs_c": "c.1384A>G",
"hgvs_p": "p.Lys462Glu",
"transcript": "ENST00000381861.7",
"protein_id": "ENSP00000371285.3",
"transcript_support_level": 2,
"aa_start": 462,
"aa_end": null,
"aa_length": 517,
"cds_start": 1384,
"cds_end": null,
"cds_length": 1554,
"cdna_start": 1704,
"cdna_end": null,
"cdna_length": 3996,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTUS1",
"gene_hgnc_id": 29789,
"hgvs_c": "c.1141A>G",
"hgvs_p": "p.Lys381Glu",
"transcript": "NM_020749.5",
"protein_id": "NP_065800.1",
"transcript_support_level": null,
"aa_start": 381,
"aa_end": null,
"aa_length": 436,
"cds_start": 1141,
"cds_end": null,
"cds_length": 1311,
"cdna_start": 1434,
"cdna_end": null,
"cdna_length": 3728,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTUS1",
"gene_hgnc_id": 29789,
"hgvs_c": "c.1078A>G",
"hgvs_p": "p.Lys360Glu",
"transcript": "NM_001166393.2",
"protein_id": "NP_001159865.1",
"transcript_support_level": null,
"aa_start": 360,
"aa_end": null,
"aa_length": 415,
"cds_start": 1078,
"cds_end": null,
"cds_length": 1248,
"cdna_start": 1349,
"cdna_end": null,
"cdna_length": 3643,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTUS1",
"gene_hgnc_id": 29789,
"hgvs_c": "c.1078A>G",
"hgvs_p": "p.Lys360Glu",
"transcript": "ENST00000544260.3",
"protein_id": "ENSP00000445738.1",
"transcript_support_level": 2,
"aa_start": 360,
"aa_end": null,
"aa_length": 415,
"cds_start": 1078,
"cds_end": null,
"cds_length": 1248,
"cdna_start": 1349,
"cdna_end": null,
"cdna_length": 3650,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTUS1",
"gene_hgnc_id": 29789,
"hgvs_c": "c.859A>G",
"hgvs_p": "p.Lys287Glu",
"transcript": "NM_001330470.2",
"protein_id": "NP_001317399.1",
"transcript_support_level": null,
"aa_start": 287,
"aa_end": null,
"aa_length": 342,
"cds_start": 859,
"cds_end": null,
"cds_length": 1029,
"cdna_start": 1022,
"cdna_end": null,
"cdna_length": 3316,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTUS1",
"gene_hgnc_id": 29789,
"hgvs_c": "c.859A>G",
"hgvs_p": "p.Lys287Glu",
"transcript": "ENST00000634613.1",
"protein_id": "ENSP00000489288.1",
"transcript_support_level": 5,
"aa_start": 287,
"aa_end": null,
"aa_length": 342,
"cds_start": 859,
"cds_end": null,
"cds_length": 1029,
"cdna_start": 1023,
"cdna_end": null,
"cdna_length": 1193,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTUS1",
"gene_hgnc_id": 29789,
"hgvs_c": "c.3639A>G",
"hgvs_p": "p.Arg1213Arg",
"transcript": "NM_001363057.2",
"protein_id": "NP_001349986.1",
"transcript_support_level": null,
"aa_start": 1213,
"aa_end": null,
"aa_length": 1282,
"cds_start": 3639,
"cds_end": null,
"cds_length": 3849,
"cdna_start": 3827,
"cdna_end": null,
"cdna_length": 6121,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTUS1",
"gene_hgnc_id": 29789,
"hgvs_c": "c.3477A>G",
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"protein_id": "NP_001349989.1",
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"aa_start": 1159,
"aa_end": null,
"aa_length": 1228,
"cds_start": 3477,
"cds_end": null,
"cds_length": 3687,
"cdna_start": 3665,
"cdna_end": null,
"cdna_length": 5959,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTUS1",
"gene_hgnc_id": 29789,
"hgvs_c": "n.2006A>G",
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"transcript": "ENST00000517413.5",
"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": 4303,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTUS1",
"gene_hgnc_id": 29789,
"hgvs_c": "n.421A>G",
"hgvs_p": null,
"transcript": "ENST00000518792.5",
"protein_id": null,
"transcript_support_level": 4,
"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": 541,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTUS1",
"gene_hgnc_id": 29789,
"hgvs_c": "n.3764A>G",
"hgvs_p": null,
"transcript": "NR_156437.2",
"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": 6058,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "MTUS1",
"gene_hgnc_id": 29789,
"dbsnp": "rs780526153",
"frequency_reference_population": 0.0000074399686,
"hom_count_reference_population": 0,
"allele_count_reference_population": 12,
"gnomad_exomes_af": 0.00000684308,
"gnomad_genomes_af": 0.0000131944,
"gnomad_exomes_ac": 10,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.2271779477596283,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.469,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.8005,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.02,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 5.024,
"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": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001363059.2",
"gene_symbol": "MTUS1",
"hgnc_id": 29789,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.3643A>G",
"hgvs_p": "p.Lys1215Glu"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}