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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: 5-140697286-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=140697286&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 140697286,
"ref": "T",
"alt": "G",
"effect": "synonymous_variant",
"transcript": "NM_001363535.2",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HARS2",
"gene_hgnc_id": 4817,
"hgvs_c": "c.1077T>G",
"hgvs_p": "p.Ala359Ala",
"transcript": "NM_012208.4",
"protein_id": "NP_036340.1",
"transcript_support_level": null,
"aa_start": 359,
"aa_end": null,
"aa_length": 506,
"cds_start": 1077,
"cds_end": null,
"cds_length": 1521,
"cdna_start": 1271,
"cdna_end": null,
"cdna_length": 2468,
"mane_select": "ENST00000230771.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_012208.4"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HARS2",
"gene_hgnc_id": 4817,
"hgvs_c": "c.1077T>G",
"hgvs_p": "p.Ala359Ala",
"transcript": "ENST00000230771.9",
"protein_id": "ENSP00000230771.3",
"transcript_support_level": 1,
"aa_start": 359,
"aa_end": null,
"aa_length": 506,
"cds_start": 1077,
"cds_end": null,
"cds_length": 1521,
"cdna_start": 1271,
"cdna_end": null,
"cdna_length": 2468,
"mane_select": "NM_012208.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000230771.9"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HARS2",
"gene_hgnc_id": 4817,
"hgvs_c": "c.1107T>G",
"hgvs_p": "p.Ala369Ala",
"transcript": "ENST00000926034.1",
"protein_id": "ENSP00000596093.1",
"transcript_support_level": null,
"aa_start": 369,
"aa_end": null,
"aa_length": 516,
"cds_start": 1107,
"cds_end": null,
"cds_length": 1551,
"cdna_start": 1294,
"cdna_end": null,
"cdna_length": 2491,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926034.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HARS2",
"gene_hgnc_id": 4817,
"hgvs_c": "c.1095T>G",
"hgvs_p": "p.Ala365Ala",
"transcript": "NM_001363535.2",
"protein_id": "NP_001350464.1",
"transcript_support_level": null,
"aa_start": 365,
"aa_end": null,
"aa_length": 512,
"cds_start": 1095,
"cds_end": null,
"cds_length": 1539,
"cdna_start": 1289,
"cdna_end": null,
"cdna_length": 2486,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363535.2"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HARS2",
"gene_hgnc_id": 4817,
"hgvs_c": "c.1095T>G",
"hgvs_p": "p.Ala365Ala",
"transcript": "ENST00000645065.1",
"protein_id": "ENSP00000493571.1",
"transcript_support_level": null,
"aa_start": 365,
"aa_end": null,
"aa_length": 512,
"cds_start": 1095,
"cds_end": null,
"cds_length": 1539,
"cdna_start": 1200,
"cdna_end": null,
"cdna_length": 2363,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000645065.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HARS2",
"gene_hgnc_id": 4817,
"hgvs_c": "c.1095T>G",
"hgvs_p": "p.Ala365Ala",
"transcript": "ENST00000646468.1",
"protein_id": "ENSP00000494965.1",
"transcript_support_level": null,
"aa_start": 365,
"aa_end": null,
"aa_length": 512,
"cds_start": 1095,
"cds_end": null,
"cds_length": 1539,
"cdna_start": 1286,
"cdna_end": null,
"cdna_length": 2469,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000646468.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HARS2",
"gene_hgnc_id": 4817,
"hgvs_c": "c.1077T>G",
"hgvs_p": "p.Ala359Ala",
"transcript": "ENST00000645749.1",
"protein_id": "ENSP00000494296.1",
"transcript_support_level": null,
"aa_start": 359,
"aa_end": null,
"aa_length": 506,
"cds_start": 1077,
"cds_end": null,
"cds_length": 1521,
"cdna_start": 1165,
"cdna_end": null,
"cdna_length": 2292,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000645749.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HARS2",
"gene_hgnc_id": 4817,
"hgvs_c": "c.1044T>G",
"hgvs_p": "p.Ala348Ala",
"transcript": "ENST00000926031.1",
"protein_id": "ENSP00000596090.1",
"transcript_support_level": null,
"aa_start": 348,
"aa_end": null,
"aa_length": 495,
"cds_start": 1044,
"cds_end": null,
"cds_length": 1488,
"cdna_start": 1237,
"cdna_end": null,
"cdna_length": 2437,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926031.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HARS2",
"gene_hgnc_id": 4817,
"hgvs_c": "c.1002T>G",
"hgvs_p": "p.Ala334Ala",
"transcript": "NM_001278731.2",
"protein_id": "NP_001265660.1",
"transcript_support_level": null,
"aa_start": 334,
"aa_end": null,
"aa_length": 481,
"cds_start": 1002,
"cds_end": null,
"cds_length": 1446,
"cdna_start": 1196,
"cdna_end": null,
"cdna_length": 2393,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001278731.2"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HARS2",
"gene_hgnc_id": 4817,
"hgvs_c": "c.1002T>G",
"hgvs_p": "p.Ala334Ala",
"transcript": "ENST00000508522.5",
"protein_id": "ENSP00000423616.1",
"transcript_support_level": 2,
"aa_start": 334,
"aa_end": null,
"aa_length": 481,
"cds_start": 1002,
"cds_end": null,
"cds_length": 1446,
"cdna_start": 1042,
"cdna_end": null,
"cdna_length": 1562,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000508522.5"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HARS2",
"gene_hgnc_id": 4817,
"hgvs_c": "c.978T>G",
"hgvs_p": "p.Ala326Ala",
"transcript": "ENST00000642752.1",
"protein_id": "ENSP00000493630.1",
"transcript_support_level": null,
"aa_start": 326,
"aa_end": null,
"aa_length": 473,
"cds_start": 978,
"cds_end": null,
"cds_length": 1422,
"cdna_start": 1174,
"cdna_end": null,
"cdna_length": 2346,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000642752.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HARS2",
"gene_hgnc_id": 4817,
"hgvs_c": "c.948T>G",
"hgvs_p": "p.Ala316Ala",
"transcript": "ENST00000926033.1",
"protein_id": "ENSP00000596092.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 463,
"cds_start": 948,
"cds_end": null,
"cds_length": 1392,
"cdna_start": 1139,
"cdna_end": null,
"cdna_length": 2335,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926033.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HARS2",
"gene_hgnc_id": 4817,
"hgvs_c": "c.903T>G",
"hgvs_p": "p.Ala301Ala",
"transcript": "ENST00000879977.1",
"protein_id": "ENSP00000550036.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 448,
"cds_start": 903,
"cds_end": null,
"cds_length": 1347,
"cdna_start": 1099,
"cdna_end": null,
"cdna_length": 2295,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879977.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HARS2",
"gene_hgnc_id": 4817,
"hgvs_c": "c.867T>G",
"hgvs_p": "p.Ala289Ala",
"transcript": "NM_001363536.2",
"protein_id": "NP_001350465.1",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 436,
"cds_start": 867,
"cds_end": null,
"cds_length": 1311,
"cdna_start": 1253,
"cdna_end": null,
"cdna_length": 2450,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363536.2"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HARS2",
"gene_hgnc_id": 4817,
"hgvs_c": "c.867T>G",
"hgvs_p": "p.Ala289Ala",
"transcript": "ENST00000642970.1",
"protein_id": "ENSP00000496011.1",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 436,
"cds_start": 867,
"cds_end": null,
"cds_length": 1311,
"cdna_start": 1253,
"cdna_end": null,
"cdna_length": 2436,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000642970.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HARS2",
"gene_hgnc_id": 4817,
"hgvs_c": "c.867T>G",
"hgvs_p": "p.Ala289Ala",
"transcript": "ENST00000643996.1",
"protein_id": "ENSP00000495350.1",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 436,
"cds_start": 867,
"cds_end": null,
"cds_length": 1311,
"cdna_start": 1359,
"cdna_end": null,
"cdna_length": 2485,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000643996.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HARS2",
"gene_hgnc_id": 4817,
"hgvs_c": "c.855T>G",
"hgvs_p": "p.Ala285Ala",
"transcript": "ENST00000879976.1",
"protein_id": "ENSP00000550035.1",
"transcript_support_level": null,
"aa_start": 285,
"aa_end": null,
"aa_length": 432,
"cds_start": 855,
"cds_end": null,
"cds_length": 1299,
"cdna_start": 1052,
"cdna_end": null,
"cdna_length": 2251,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879976.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HARS2",
"gene_hgnc_id": 4817,
"hgvs_c": "c.780T>G",
"hgvs_p": "p.Ala260Ala",
"transcript": "ENST00000943806.1",
"protein_id": "ENSP00000613865.1",
"transcript_support_level": null,
"aa_start": 260,
"aa_end": null,
"aa_length": 407,
"cds_start": 780,
"cds_end": null,
"cds_length": 1224,
"cdna_start": 948,
"cdna_end": null,
"cdna_length": 2142,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943806.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HARS2",
"gene_hgnc_id": 4817,
"hgvs_c": "c.756T>G",
"hgvs_p": "p.Ala252Ala",
"transcript": "ENST00000503873.6",
"protein_id": "ENSP00000424516.2",
"transcript_support_level": 3,
"aa_start": 252,
"aa_end": null,
"aa_length": 399,
"cds_start": 756,
"cds_end": null,
"cds_length": 1200,
"cdna_start": 950,
"cdna_end": null,
"cdna_length": 2110,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000503873.6"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HARS2",
"gene_hgnc_id": 4817,
"hgvs_c": "c.660T>G",
"hgvs_p": "p.Ala220Ala",
"transcript": "ENST00000879978.1",
"protein_id": "ENSP00000550037.1",
"transcript_support_level": null,
"aa_start": 220,
"aa_end": null,
"aa_length": 367,
"cds_start": 660,
"cds_end": null,
"cds_length": 1104,
"cdna_start": 856,
"cdna_end": null,
"cdna_length": 2051,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879978.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HARS2",
"gene_hgnc_id": 4817,
"hgvs_c": "c.645T>G",
"hgvs_p": "p.Ala215Ala",
"transcript": "NM_001278732.2",
"protein_id": "NP_001265661.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 362,
"cds_start": 645,
"cds_end": null,
"cds_length": 1089,
"cdna_start": 1149,
"cdna_end": null,
"cdna_length": 2346,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001278732.2"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HARS2",
"gene_hgnc_id": 4817,
"hgvs_c": "c.561T>G",
"hgvs_p": "p.Ala187Ala",
"transcript": "ENST00000448069.2",
"protein_id": "ENSP00000407105.2",
"transcript_support_level": 2,
"aa_start": 187,
"aa_end": null,
"aa_length": 334,
"cds_start": 561,
"cds_end": null,
"cds_length": 1005,
"cdna_start": 596,
"cdna_end": null,
"cdna_length": 1426,
"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000448069.2"
},
{
"aa_ref": "A",
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"canonical": false,
"protein_coding": true,
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"consequences": [
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],
"exon_rank": 11,
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"exon_count": 11,
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"gene_symbol": "HARS2",
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"hgvs_p": "p.Ala289Ala",
"transcript": "ENST00000509299.6",
"protein_id": "ENSP00000425695.2",
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"aa_start": 289,
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"aa_length": 292,
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},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
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"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 5,
"intron_rank": 2,
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"gene_symbol": "HARS2",
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"hgvs_c": "c.217-283T>G",
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"transcript": "ENST00000926032.1",
"protein_id": "ENSP00000596091.1",
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"cds_length": 540,
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"feature": "ENST00000926032.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
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"gene_symbol": "HARS2",
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"hgvs_c": "n.*655T>G",
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"transcript": "ENST00000520095.6",
"protein_id": "ENSP00000429220.1",
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"aa_end": null,
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"cdna_length": 1747,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000520095.6"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
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"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HARS2",
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"hgvs_c": "n.*458T>G",
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"transcript": "ENST00000642452.1",
"protein_id": "ENSP00000494742.1",
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"feature": "ENST00000642452.1"
},
{
"aa_ref": null,
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"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
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"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HARS2",
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"transcript": "ENST00000647484.1",
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"feature": "ENST00000647484.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
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"gene_symbol": "HARS2",
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"protein_id": "ENSP00000429220.1",
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"feature": "ENST00000520095.6"
},
{
"aa_ref": null,
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"3_prime_UTR_variant"
],
"exon_rank": 10,
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"gene_symbol": "HARS2",
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"transcript": "ENST00000642452.1",
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"feature": "ENST00000642452.1"
},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
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"exon_count": 14,
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"gene_symbol": "HARS2",
"gene_hgnc_id": 4817,
"hgvs_c": "n.*458T>G",
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"transcript": "ENST00000647484.1",
"protein_id": "ENSP00000494140.1",
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"cds_end": null,
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"cdna_start": null,
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"cdna_length": 2310,
"mane_select": null,
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000647484.1"
}
],
"gene_symbol": "HARS2",
"gene_hgnc_id": 4817,
"dbsnp": "rs776286420",
"frequency_reference_population": 0.0000489452,
"hom_count_reference_population": 0,
"allele_count_reference_population": 79,
"gnomad_exomes_af": 0.0000499356,
"gnomad_genomes_af": 0.0000394306,
"gnomad_exomes_ac": 73,
"gnomad_genomes_ac": 6,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"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": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.46,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.188,
"phylop100way_prediction": "Benign",
"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": -9,
"acmg_classification": "Benign",
"acmg_criteria": "PM2,BP4_Moderate,BP6_Very_Strong,BP7",
"acmg_by_gene": [
{
"score": -9,
"benign_score": 11,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate",
"BP6_Very_Strong",
"BP7"
],
"verdict": "Benign",
"transcript": "NM_001363535.2",
"gene_symbol": "HARS2",
"hgnc_id": 4817,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1095T>G",
"hgvs_p": "p.Ala365Ala"
}
],
"clinvar_disease": "not provided,not specified",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2",
"phenotype_combined": "not specified|not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}