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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: 3-49103899-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=49103899&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 49103899,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_005051.3",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "QARS1",
"gene_hgnc_id": 9751,
"hgvs_c": "c.339G>A",
"hgvs_p": "p.Val113Val",
"transcript": "NM_005051.3",
"protein_id": "NP_005042.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 775,
"cds_start": 339,
"cds_end": null,
"cds_length": 2328,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000306125.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005051.3"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "QARS1",
"gene_hgnc_id": 9751,
"hgvs_c": "c.339G>A",
"hgvs_p": "p.Val113Val",
"transcript": "ENST00000306125.12",
"protein_id": "ENSP00000307567.6",
"transcript_support_level": 1,
"aa_start": 113,
"aa_end": null,
"aa_length": 775,
"cds_start": 339,
"cds_end": null,
"cds_length": 2328,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005051.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000306125.12"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "QARS1",
"gene_hgnc_id": 9751,
"hgvs_c": "c.-97G>A",
"hgvs_p": null,
"transcript": "ENST00000464962.6",
"protein_id": "ENSP00000489011.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 630,
"cds_start": null,
"cds_end": null,
"cds_length": 1893,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000464962.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "QARS1",
"gene_hgnc_id": 9751,
"hgvs_c": "n.364G>A",
"hgvs_p": null,
"transcript": "ENST00000634609.1",
"protein_id": null,
"transcript_support_level": 1,
"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": "retained_intron",
"feature": "ENST00000634609.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "QARS1",
"gene_hgnc_id": 9751,
"hgvs_c": "c.465G>A",
"hgvs_p": "p.Val155Val",
"transcript": "ENST00000965966.1",
"protein_id": "ENSP00000636025.1",
"transcript_support_level": null,
"aa_start": 155,
"aa_end": null,
"aa_length": 816,
"cds_start": 465,
"cds_end": null,
"cds_length": 2451,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965966.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "QARS1",
"gene_hgnc_id": 9751,
"hgvs_c": "c.339G>A",
"hgvs_p": "p.Val113Val",
"transcript": "ENST00000965963.1",
"protein_id": "ENSP00000636022.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 785,
"cds_start": 339,
"cds_end": null,
"cds_length": 2358,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965963.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "QARS1",
"gene_hgnc_id": 9751,
"hgvs_c": "c.339G>A",
"hgvs_p": "p.Val113Val",
"transcript": "ENST00000870701.1",
"protein_id": "ENSP00000540760.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 774,
"cds_start": 339,
"cds_end": null,
"cds_length": 2325,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870701.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "QARS1",
"gene_hgnc_id": 9751,
"hgvs_c": "c.339G>A",
"hgvs_p": "p.Val113Val",
"transcript": "ENST00000965961.1",
"protein_id": "ENSP00000636020.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 774,
"cds_start": 339,
"cds_end": null,
"cds_length": 2325,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965961.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "QARS1",
"gene_hgnc_id": 9751,
"hgvs_c": "c.306G>A",
"hgvs_p": "p.Val102Val",
"transcript": "NM_001272073.2",
"protein_id": "NP_001259002.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 764,
"cds_start": 306,
"cds_end": null,
"cds_length": 2295,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001272073.2"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "QARS1",
"gene_hgnc_id": 9751,
"hgvs_c": "c.306G>A",
"hgvs_p": "p.Val102Val",
"transcript": "ENST00000414533.5",
"protein_id": "ENSP00000390015.1",
"transcript_support_level": 2,
"aa_start": 102,
"aa_end": null,
"aa_length": 764,
"cds_start": 306,
"cds_end": null,
"cds_length": 2295,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000414533.5"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "QARS1",
"gene_hgnc_id": 9751,
"hgvs_c": "c.339G>A",
"hgvs_p": "p.Val113Val",
"transcript": "ENST00000965960.1",
"protein_id": "ENSP00000636019.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 758,
"cds_start": 339,
"cds_end": null,
"cds_length": 2277,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965960.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "QARS1",
"gene_hgnc_id": 9751,
"hgvs_c": "c.339G>A",
"hgvs_p": "p.Val113Val",
"transcript": "ENST00000965967.1",
"protein_id": "ENSP00000636026.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 757,
"cds_start": 339,
"cds_end": null,
"cds_length": 2274,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965967.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "QARS1",
"gene_hgnc_id": 9751,
"hgvs_c": "c.339G>A",
"hgvs_p": "p.Val113Val",
"transcript": "ENST00000965965.1",
"protein_id": "ENSP00000636024.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 751,
"cds_start": 339,
"cds_end": null,
"cds_length": 2256,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965965.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "QARS1",
"gene_hgnc_id": 9751,
"hgvs_c": "c.339G>A",
"hgvs_p": "p.Val113Val",
"transcript": "ENST00000965968.1",
"protein_id": "ENSP00000636027.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 733,
"cds_start": 339,
"cds_end": null,
"cds_length": 2202,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965968.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "QARS1",
"gene_hgnc_id": 9751,
"hgvs_c": "c.339G>A",
"hgvs_p": "p.Val113Val",
"transcript": "ENST00000965962.1",
"protein_id": "ENSP00000636021.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 713,
"cds_start": 339,
"cds_end": null,
"cds_length": 2142,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965962.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "QARS1",
"gene_hgnc_id": 9751,
"hgvs_c": "c.339G>A",
"hgvs_p": "p.Val113Val",
"transcript": "ENST00000913518.1",
"protein_id": "ENSP00000583577.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 704,
"cds_start": 339,
"cds_end": null,
"cds_length": 2115,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913518.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "QARS1",
"gene_hgnc_id": 9751,
"hgvs_c": "c.339G>A",
"hgvs_p": "p.Val113Val",
"transcript": "ENST00000635443.1",
"protein_id": "ENSP00000489154.1",
"transcript_support_level": 5,
"aa_start": 113,
"aa_end": null,
"aa_length": 341,
"cds_start": 339,
"cds_end": null,
"cds_length": 1026,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000635443.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "QARS1",
"gene_hgnc_id": 9751,
"hgvs_c": "c.465G>A",
"hgvs_p": "p.Val155Val",
"transcript": "ENST00000452739.5",
"protein_id": "ENSP00000392850.2",
"transcript_support_level": 5,
"aa_start": 155,
"aa_end": null,
"aa_length": 338,
"cds_start": 465,
"cds_end": null,
"cds_length": 1017,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000452739.5"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "QARS1",
"gene_hgnc_id": 9751,
"hgvs_c": "c.339G>A",
"hgvs_p": "p.Val113Val",
"transcript": "ENST00000965964.1",
"protein_id": "ENSP00000636023.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 308,
"cds_start": 339,
"cds_end": null,
"cds_length": 927,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965964.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "QARS1",
"gene_hgnc_id": 9751,
"hgvs_c": "c.213G>A",
"hgvs_p": "p.Val71Val",
"transcript": "ENST00000635292.1",
"protein_id": "ENSP00000489056.1",
"transcript_support_level": 4,
"aa_start": 71,
"aa_end": null,
"aa_length": 190,
"cds_start": 213,
"cds_end": null,
"cds_length": 574,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000635292.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "QARS1",
"gene_hgnc_id": 9751,
"hgvs_c": "c.333G>A",
"hgvs_p": "p.Val111Val",
"transcript": "ENST00000635194.1",
"protein_id": "ENSP00000488960.1",
"transcript_support_level": 5,
"aa_start": 111,
"aa_end": null,
"aa_length": 186,
"cds_start": 333,
"cds_end": null,
"cds_length": 563,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000635194.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "QARS1",
"gene_hgnc_id": 9751,
"hgvs_c": "c.303G>A",
"hgvs_p": "p.Val101Val",
"transcript": "ENST00000635231.1",
"protein_id": "ENSP00000489550.1",
"transcript_support_level": 4,
"aa_start": 101,
"aa_end": null,
"aa_length": 181,
"cds_start": 303,
"cds_end": null,
"cds_length": 548,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000635231.1"
},
{
"aa_ref": "V",
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"hgvs_p": null,
"transcript": "ENST00000636669.1",
"protein_id": "ENSP00000490664.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000636669.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "QARS1",
"gene_hgnc_id": 9751,
"hgvs_c": "n.314G>A",
"hgvs_p": null,
"transcript": "NR_073590.2",
"protein_id": null,
"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": "pseudogene",
"feature": "NR_073590.2"
},
{
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "QARS1",
"gene_hgnc_id": 9751,
"hgvs_c": "n.*116G>A",
"hgvs_p": null,
"transcript": "ENST00000482438.2",
"protein_id": null,
"transcript_support_level": 1,
"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": "retained_intron",
"feature": "ENST00000482438.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "QARS1",
"gene_hgnc_id": 9751,
"hgvs_c": "n.-31G>A",
"hgvs_p": null,
"transcript": "ENST00000494838.6",
"protein_id": null,
"transcript_support_level": 3,
"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": "retained_intron",
"feature": "ENST00000494838.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "QARS1",
"gene_hgnc_id": 9751,
"hgvs_c": "n.-19G>A",
"hgvs_p": null,
"transcript": "ENST00000637543.1",
"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": "retained_intron",
"feature": "ENST00000637543.1"
}
],
"gene_symbol": "QARS1",
"gene_hgnc_id": 9751,
"dbsnp": "rs1060502310",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.3400000035762787,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.7300000190734863,
"splice_prediction_selected": "Pathogenic",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.34,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.535,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.73,
"spliceai_max_prediction": "Pathogenic",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_005051.3",
"gene_symbol": "QARS1",
"hgnc_id": 9751,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.339G>A",
"hgvs_p": "p.Val113Val"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}