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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: 5-146114228-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=146114228&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 146114228,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_020117.11",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARS1",
"gene_hgnc_id": 6512,
"hgvs_c": "c.3409G>A",
"hgvs_p": "p.Glu1137Lys",
"transcript": "NM_020117.11",
"protein_id": "NP_064502.9",
"transcript_support_level": null,
"aa_start": 1137,
"aa_end": null,
"aa_length": 1176,
"cds_start": 3409,
"cds_end": null,
"cds_length": 3531,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000394434.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_020117.11"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARS1",
"gene_hgnc_id": 6512,
"hgvs_c": "c.3409G>A",
"hgvs_p": "p.Glu1137Lys",
"transcript": "ENST00000394434.7",
"protein_id": "ENSP00000377954.2",
"transcript_support_level": 1,
"aa_start": 1137,
"aa_end": null,
"aa_length": 1176,
"cds_start": 3409,
"cds_end": null,
"cds_length": 3531,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_020117.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000394434.7"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARS1",
"gene_hgnc_id": 6512,
"hgvs_c": "c.3529G>A",
"hgvs_p": "p.Glu1177Lys",
"transcript": "ENST00000908002.1",
"protein_id": "ENSP00000578061.1",
"transcript_support_level": null,
"aa_start": 1177,
"aa_end": null,
"aa_length": 1216,
"cds_start": 3529,
"cds_end": null,
"cds_length": 3651,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908002.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARS1",
"gene_hgnc_id": 6512,
"hgvs_c": "c.3502G>A",
"hgvs_p": "p.Glu1168Lys",
"transcript": "ENST00000907999.1",
"protein_id": "ENSP00000578058.1",
"transcript_support_level": null,
"aa_start": 1168,
"aa_end": null,
"aa_length": 1207,
"cds_start": 3502,
"cds_end": null,
"cds_length": 3624,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907999.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARS1",
"gene_hgnc_id": 6512,
"hgvs_c": "c.3499G>A",
"hgvs_p": "p.Glu1167Lys",
"transcript": "ENST00000923248.1",
"protein_id": "ENSP00000593307.1",
"transcript_support_level": null,
"aa_start": 1167,
"aa_end": null,
"aa_length": 1206,
"cds_start": 3499,
"cds_end": null,
"cds_length": 3621,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923248.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARS1",
"gene_hgnc_id": 6512,
"hgvs_c": "c.3406G>A",
"hgvs_p": "p.Glu1136Lys",
"transcript": "ENST00000674398.1",
"protein_id": "ENSP00000501476.1",
"transcript_support_level": null,
"aa_start": 1136,
"aa_end": null,
"aa_length": 1175,
"cds_start": 3406,
"cds_end": null,
"cds_length": 3528,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000674398.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARS1",
"gene_hgnc_id": 6512,
"hgvs_c": "c.3406G>A",
"hgvs_p": "p.Glu1136Lys",
"transcript": "ENST00000923242.1",
"protein_id": "ENSP00000593301.1",
"transcript_support_level": null,
"aa_start": 1136,
"aa_end": null,
"aa_length": 1175,
"cds_start": 3406,
"cds_end": null,
"cds_length": 3528,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923242.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARS1",
"gene_hgnc_id": 6512,
"hgvs_c": "c.3373G>A",
"hgvs_p": "p.Glu1125Lys",
"transcript": "ENST00000674290.1",
"protein_id": "ENSP00000501435.1",
"transcript_support_level": null,
"aa_start": 1125,
"aa_end": null,
"aa_length": 1164,
"cds_start": 3373,
"cds_end": null,
"cds_length": 3495,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000674290.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARS1",
"gene_hgnc_id": 6512,
"hgvs_c": "c.3355G>A",
"hgvs_p": "p.Glu1119Lys",
"transcript": "ENST00000908004.1",
"protein_id": "ENSP00000578063.1",
"transcript_support_level": null,
"aa_start": 1119,
"aa_end": null,
"aa_length": 1158,
"cds_start": 3355,
"cds_end": null,
"cds_length": 3477,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908004.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARS1",
"gene_hgnc_id": 6512,
"hgvs_c": "c.3352G>A",
"hgvs_p": "p.Glu1118Lys",
"transcript": "ENST00000970934.1",
"protein_id": "ENSP00000640993.1",
"transcript_support_level": null,
"aa_start": 1118,
"aa_end": null,
"aa_length": 1157,
"cds_start": 3352,
"cds_end": null,
"cds_length": 3474,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970934.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARS1",
"gene_hgnc_id": 6512,
"hgvs_c": "c.3337G>A",
"hgvs_p": "p.Glu1113Lys",
"transcript": "ENST00000923244.1",
"protein_id": "ENSP00000593303.1",
"transcript_support_level": null,
"aa_start": 1113,
"aa_end": null,
"aa_length": 1152,
"cds_start": 3337,
"cds_end": null,
"cds_length": 3459,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923244.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARS1",
"gene_hgnc_id": 6512,
"hgvs_c": "c.3331G>A",
"hgvs_p": "p.Glu1111Lys",
"transcript": "ENST00000923247.1",
"protein_id": "ENSP00000593306.1",
"transcript_support_level": null,
"aa_start": 1111,
"aa_end": null,
"aa_length": 1150,
"cds_start": 3331,
"cds_end": null,
"cds_length": 3453,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923247.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARS1",
"gene_hgnc_id": 6512,
"hgvs_c": "c.3328G>A",
"hgvs_p": "p.Glu1110Lys",
"transcript": "NM_016460.4",
"protein_id": "NP_057544.2",
"transcript_support_level": null,
"aa_start": 1110,
"aa_end": null,
"aa_length": 1149,
"cds_start": 3328,
"cds_end": null,
"cds_length": 3450,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016460.4"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARS1",
"gene_hgnc_id": 6512,
"hgvs_c": "c.3328G>A",
"hgvs_p": "p.Glu1110Lys",
"transcript": "ENST00000674447.1",
"protein_id": "ENSP00000501376.1",
"transcript_support_level": null,
"aa_start": 1110,
"aa_end": null,
"aa_length": 1149,
"cds_start": 3328,
"cds_end": null,
"cds_length": 3450,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000674447.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARS1",
"gene_hgnc_id": 6512,
"hgvs_c": "c.3313G>A",
"hgvs_p": "p.Glu1105Lys",
"transcript": "ENST00000908003.1",
"protein_id": "ENSP00000578062.1",
"transcript_support_level": null,
"aa_start": 1105,
"aa_end": null,
"aa_length": 1144,
"cds_start": 3313,
"cds_end": null,
"cds_length": 3435,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908003.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARS1",
"gene_hgnc_id": 6512,
"hgvs_c": "c.3313G>A",
"hgvs_p": "p.Glu1105Lys",
"transcript": "ENST00000970933.1",
"protein_id": "ENSP00000640992.1",
"transcript_support_level": null,
"aa_start": 1105,
"aa_end": null,
"aa_length": 1144,
"cds_start": 3313,
"cds_end": null,
"cds_length": 3435,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970933.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARS1",
"gene_hgnc_id": 6512,
"hgvs_c": "c.3271G>A",
"hgvs_p": "p.Glu1091Lys",
"transcript": "NM_001317964.2",
"protein_id": "NP_001304893.1",
"transcript_support_level": null,
"aa_start": 1091,
"aa_end": null,
"aa_length": 1130,
"cds_start": 3271,
"cds_end": null,
"cds_length": 3393,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001317964.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARS1",
"gene_hgnc_id": 6512,
"hgvs_c": "c.3271G>A",
"hgvs_p": "p.Glu1091Lys",
"transcript": "ENST00000674270.1",
"protein_id": "ENSP00000501365.1",
"transcript_support_level": null,
"aa_start": 1091,
"aa_end": null,
"aa_length": 1130,
"cds_start": 3271,
"cds_end": null,
"cds_length": 3393,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000674270.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARS1",
"gene_hgnc_id": 6512,
"hgvs_c": "c.3268G>A",
"hgvs_p": "p.Glu1090Lys",
"transcript": "ENST00000923243.1",
"protein_id": "ENSP00000593302.1",
"transcript_support_level": null,
"aa_start": 1090,
"aa_end": null,
"aa_length": 1129,
"cds_start": 3268,
"cds_end": null,
"cds_length": 3390,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923243.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARS1",
"gene_hgnc_id": 6512,
"hgvs_c": "c.3247G>A",
"hgvs_p": "p.Glu1083Lys",
"transcript": "NM_001317965.2",
"protein_id": "NP_001304894.1",
"transcript_support_level": null,
"aa_start": 1083,
"aa_end": null,
"aa_length": 1122,
"cds_start": 3247,
"cds_end": null,
"cds_length": 3369,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001317965.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARS1",
"gene_hgnc_id": 6512,
"hgvs_c": "c.3247G>A",
"hgvs_p": "p.Glu1083Lys",
"transcript": "ENST00000510191.5",
"protein_id": "ENSP00000426005.1",
"transcript_support_level": 2,
"aa_start": 1083,
"aa_end": null,
"aa_length": 1122,
"cds_start": 3247,
"cds_end": null,
"cds_length": 3369,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000510191.5"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARS1",
"gene_hgnc_id": 6512,
"hgvs_c": "c.3247G>A",
"hgvs_p": "p.Glu1083Lys",
"transcript": "ENST00000674174.1",
"protein_id": "ENSP00000501434.1",
"transcript_support_level": null,
"aa_start": 1083,
"aa_end": null,
"aa_length": 1122,
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"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000674309.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARS1",
"gene_hgnc_id": 6512,
"hgvs_c": "n.*1331G>A",
"hgvs_p": null,
"transcript": "ENST00000674467.1",
"protein_id": "ENSP00000501351.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000674467.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000251556",
"gene_hgnc_id": null,
"hgvs_c": "n.344-6089C>T",
"hgvs_p": null,
"transcript": "ENST00000514002.1",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000514002.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARS1",
"gene_hgnc_id": 6512,
"hgvs_c": "n.*136G>A",
"hgvs_p": null,
"transcript": "ENST00000674310.1",
"protein_id": "ENSP00000501486.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000674310.1"
}
],
"gene_symbol": "LARS1",
"gene_hgnc_id": 6512,
"dbsnp": "rs201386463",
"frequency_reference_population": 0.00009604636,
"hom_count_reference_population": 0,
"allele_count_reference_population": 155,
"gnomad_exomes_af": 0.0000930355,
"gnomad_genomes_af": 0.000125003,
"gnomad_exomes_ac": 136,
"gnomad_genomes_ac": 19,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.07339540123939514,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.045,
"revel_prediction": "Benign",
"alphamissense_score": 0.1028,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.35,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.715,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_020117.11",
"gene_symbol": "LARS1",
"hgnc_id": 6512,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.3409G>A",
"hgvs_p": "p.Glu1137Lys"
},
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000514002.1",
"gene_symbol": "ENSG00000251556",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.344-6089C>T",
"hgvs_p": null
}
],
"clinvar_disease": "not provided,not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "not specified|not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}