← Back to variant description
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: 1-32780201-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=32780201&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 32780201,
"ref": "C",
"alt": "G",
"effect": "synonymous_variant",
"transcript": "NM_003680.4",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YARS1",
"gene_hgnc_id": 12840,
"hgvs_c": "c.1218G>C",
"hgvs_p": "p.Leu406Leu",
"transcript": "NM_003680.4",
"protein_id": "NP_003671.1",
"transcript_support_level": null,
"aa_start": 406,
"aa_end": null,
"aa_length": 528,
"cds_start": 1218,
"cds_end": null,
"cds_length": 1587,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000373477.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003680.4"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YARS1",
"gene_hgnc_id": 12840,
"hgvs_c": "c.1218G>C",
"hgvs_p": "p.Leu406Leu",
"transcript": "ENST00000373477.9",
"protein_id": "ENSP00000362576.4",
"transcript_support_level": 1,
"aa_start": 406,
"aa_end": null,
"aa_length": 528,
"cds_start": 1218,
"cds_end": null,
"cds_length": 1587,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003680.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000373477.9"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YARS1",
"gene_hgnc_id": 12840,
"hgvs_c": "c.1305G>C",
"hgvs_p": "p.Leu435Leu",
"transcript": "ENST00000906066.1",
"protein_id": "ENSP00000576125.1",
"transcript_support_level": null,
"aa_start": 435,
"aa_end": null,
"aa_length": 557,
"cds_start": 1305,
"cds_end": null,
"cds_length": 1674,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906066.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YARS1",
"gene_hgnc_id": 12840,
"hgvs_c": "c.1215G>C",
"hgvs_p": "p.Leu405Leu",
"transcript": "ENST00000918766.1",
"protein_id": "ENSP00000588825.1",
"transcript_support_level": null,
"aa_start": 405,
"aa_end": null,
"aa_length": 527,
"cds_start": 1215,
"cds_end": null,
"cds_length": 1584,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918766.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YARS1",
"gene_hgnc_id": 12840,
"hgvs_c": "c.1215G>C",
"hgvs_p": "p.Leu405Leu",
"transcript": "ENST00000918768.1",
"protein_id": "ENSP00000588827.1",
"transcript_support_level": null,
"aa_start": 405,
"aa_end": null,
"aa_length": 527,
"cds_start": 1215,
"cds_end": null,
"cds_length": 1584,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918768.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YARS1",
"gene_hgnc_id": 12840,
"hgvs_c": "c.1218G>C",
"hgvs_p": "p.Leu406Leu",
"transcript": "ENST00000956435.1",
"protein_id": "ENSP00000626494.1",
"transcript_support_level": null,
"aa_start": 406,
"aa_end": null,
"aa_length": 524,
"cds_start": 1218,
"cds_end": null,
"cds_length": 1575,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956435.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YARS1",
"gene_hgnc_id": 12840,
"hgvs_c": "c.1218G>C",
"hgvs_p": "p.Leu406Leu",
"transcript": "ENST00000906068.1",
"protein_id": "ENSP00000576127.1",
"transcript_support_level": null,
"aa_start": 406,
"aa_end": null,
"aa_length": 506,
"cds_start": 1218,
"cds_end": null,
"cds_length": 1521,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906068.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YARS1",
"gene_hgnc_id": 12840,
"hgvs_c": "c.1137G>C",
"hgvs_p": "p.Leu379Leu",
"transcript": "ENST00000906065.1",
"protein_id": "ENSP00000576124.1",
"transcript_support_level": null,
"aa_start": 379,
"aa_end": null,
"aa_length": 501,
"cds_start": 1137,
"cds_end": null,
"cds_length": 1506,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906065.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YARS1",
"gene_hgnc_id": 12840,
"hgvs_c": "c.1125G>C",
"hgvs_p": "p.Leu375Leu",
"transcript": "ENST00000918767.1",
"protein_id": "ENSP00000588826.1",
"transcript_support_level": null,
"aa_start": 375,
"aa_end": null,
"aa_length": 497,
"cds_start": 1125,
"cds_end": null,
"cds_length": 1494,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918767.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YARS1",
"gene_hgnc_id": 12840,
"hgvs_c": "c.1071G>C",
"hgvs_p": "p.Leu357Leu",
"transcript": "ENST00000675785.2",
"protein_id": "ENSP00000502019.1",
"transcript_support_level": null,
"aa_start": 357,
"aa_end": null,
"aa_length": 479,
"cds_start": 1071,
"cds_end": null,
"cds_length": 1440,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000675785.2"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YARS1",
"gene_hgnc_id": 12840,
"hgvs_c": "c.1044G>C",
"hgvs_p": "p.Leu348Leu",
"transcript": "ENST00000906067.1",
"protein_id": "ENSP00000576126.1",
"transcript_support_level": null,
"aa_start": 348,
"aa_end": null,
"aa_length": 470,
"cds_start": 1044,
"cds_end": null,
"cds_length": 1413,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906067.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YARS1",
"gene_hgnc_id": 12840,
"hgvs_c": "c.996G>C",
"hgvs_p": "p.Leu332Leu",
"transcript": "ENST00000906064.1",
"protein_id": "ENSP00000576123.1",
"transcript_support_level": null,
"aa_start": 332,
"aa_end": null,
"aa_length": 454,
"cds_start": 996,
"cds_end": null,
"cds_length": 1365,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906064.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YARS1",
"gene_hgnc_id": 12840,
"hgvs_c": "c.903G>C",
"hgvs_p": "p.Leu301Leu",
"transcript": "ENST00000918770.1",
"protein_id": "ENSP00000588829.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 423,
"cds_start": 903,
"cds_end": null,
"cds_length": 1272,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918770.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YARS1",
"gene_hgnc_id": 12840,
"hgvs_c": "c.822G>C",
"hgvs_p": "p.Leu274Leu",
"transcript": "ENST00000918769.1",
"protein_id": "ENSP00000588828.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 396,
"cds_start": 822,
"cds_end": null,
"cds_length": 1191,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918769.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YARS1",
"gene_hgnc_id": 12840,
"hgvs_c": "c.765G>C",
"hgvs_p": "p.Leu255Leu",
"transcript": "ENST00000906069.1",
"protein_id": "ENSP00000576128.1",
"transcript_support_level": null,
"aa_start": 255,
"aa_end": null,
"aa_length": 377,
"cds_start": 765,
"cds_end": null,
"cds_length": 1134,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906069.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YARS1",
"gene_hgnc_id": 12840,
"hgvs_c": "c.588G>C",
"hgvs_p": "p.Leu196Leu",
"transcript": "XM_011542347.3",
"protein_id": "XP_011540649.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 318,
"cds_start": 588,
"cds_end": null,
"cds_length": 957,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011542347.3"
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YARS1",
"gene_hgnc_id": 12840,
"hgvs_c": "n.1134G>C",
"hgvs_p": null,
"transcript": "ENST00000469100.5",
"protein_id": null,
"transcript_support_level": 2,
"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": "ENST00000469100.5"
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YARS1",
"gene_hgnc_id": 12840,
"hgvs_c": "n.685G>C",
"hgvs_p": null,
"transcript": "ENST00000478828.1",
"protein_id": null,
"transcript_support_level": 2,
"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": "ENST00000478828.1"
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YARS1",
"gene_hgnc_id": 12840,
"hgvs_c": "n.1528G>C",
"hgvs_p": null,
"transcript": "ENST00000487404.5",
"protein_id": null,
"transcript_support_level": 2,
"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": "ENST00000487404.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YARS1",
"gene_hgnc_id": 12840,
"hgvs_c": "n.511G>C",
"hgvs_p": null,
"transcript": "ENST00000490826.1",
"protein_id": null,
"transcript_support_level": 2,
"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": "ENST00000490826.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YARS1",
"gene_hgnc_id": 12840,
"hgvs_c": "n.*766G>C",
"hgvs_p": null,
"transcript": "ENST00000674629.1",
"protein_id": "ENSP00000502470.1",
"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": "ENST00000674629.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YARS1",
"gene_hgnc_id": 12840,
"hgvs_c": "n.*1178G>C",
"hgvs_p": null,
"transcript": "ENST00000674654.1",
"protein_id": "ENSP00000501729.1",
"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": "ENST00000674654.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YARS1",
"gene_hgnc_id": 12840,
"hgvs_c": "n.*1392G>C",
"hgvs_p": null,
"transcript": "ENST00000676297.1",
"protein_id": "ENSP00000501596.1",
"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": "ENST00000676297.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YARS1",
"gene_hgnc_id": 12840,
"hgvs_c": "n.*766G>C",
"hgvs_p": null,
"transcript": "ENST00000674629.1",
"protein_id": "ENSP00000502470.1",
"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": "ENST00000674629.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YARS1",
"gene_hgnc_id": 12840,
"hgvs_c": "n.*1178G>C",
"hgvs_p": null,
"transcript": "ENST00000674654.1",
"protein_id": "ENSP00000501729.1",
"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": "ENST00000674654.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YARS1",
"gene_hgnc_id": 12840,
"hgvs_c": "n.*1392G>C",
"hgvs_p": null,
"transcript": "ENST00000676297.1",
"protein_id": "ENSP00000501596.1",
"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": "ENST00000676297.1"
}
],
"gene_symbol": "YARS1",
"gene_hgnc_id": 12840,
"dbsnp": "rs699005",
"frequency_reference_population": 0.09798483,
"hom_count_reference_population": 8652,
"allele_count_reference_population": 158153,
"gnomad_exomes_af": 0.097405,
"gnomad_genomes_af": 0.103555,
"gnomad_exomes_ac": 142393,
"gnomad_genomes_ac": 15760,
"gnomad_exomes_homalt": 7745,
"gnomad_genomes_homalt": 907,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.46000000834465027,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.46,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.913,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.02,
"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": -18,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6_Very_Strong,BA1",
"acmg_by_gene": [
{
"score": -18,
"benign_score": 18,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_003680.4",
"gene_symbol": "YARS1",
"hgnc_id": 12840,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.1218G>C",
"hgvs_p": "p.Leu406Leu"
}
],
"clinvar_disease": "Charcot-Marie-Tooth disease dominant intermediate C,not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:5",
"phenotype_combined": "not specified|Charcot-Marie-Tooth disease dominant intermediate C|not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}