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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: 6-5545259-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=5545259&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 5545259,
"ref": "T",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "NM_006567.5",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FARS2",
"gene_hgnc_id": 21062,
"hgvs_c": "c.984T>C",
"hgvs_p": "p.Asp328Asp",
"transcript": "NM_006567.5",
"protein_id": "NP_006558.1",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 451,
"cds_start": 984,
"cds_end": null,
"cds_length": 1356,
"cdna_start": 1153,
"cdna_end": null,
"cdna_length": 1679,
"mane_select": "ENST00000274680.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006567.5"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FARS2",
"gene_hgnc_id": 21062,
"hgvs_c": "c.984T>C",
"hgvs_p": "p.Asp328Asp",
"transcript": "ENST00000274680.9",
"protein_id": "ENSP00000274680.4",
"transcript_support_level": 1,
"aa_start": 328,
"aa_end": null,
"aa_length": 451,
"cds_start": 984,
"cds_end": null,
"cds_length": 1356,
"cdna_start": 1153,
"cdna_end": null,
"cdna_length": 1679,
"mane_select": "NM_006567.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000274680.9"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FARS2",
"gene_hgnc_id": 21062,
"hgvs_c": "c.984T>C",
"hgvs_p": "p.Asp328Asp",
"transcript": "ENST00000324331.10",
"protein_id": "ENSP00000316335.5",
"transcript_support_level": 1,
"aa_start": 328,
"aa_end": null,
"aa_length": 451,
"cds_start": 984,
"cds_end": null,
"cds_length": 1356,
"cdna_start": 1320,
"cdna_end": null,
"cdna_length": 1692,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000324331.10"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FARS2",
"gene_hgnc_id": 21062,
"hgvs_c": "c.984T>C",
"hgvs_p": "p.Asp328Asp",
"transcript": "NM_001318872.2",
"protein_id": "NP_001305801.1",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 451,
"cds_start": 984,
"cds_end": null,
"cds_length": 1356,
"cdna_start": 1357,
"cdna_end": null,
"cdna_length": 1883,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318872.2"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FARS2",
"gene_hgnc_id": 21062,
"hgvs_c": "c.984T>C",
"hgvs_p": "p.Asp328Asp",
"transcript": "NM_001374875.1",
"protein_id": "NP_001361804.1",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 451,
"cds_start": 984,
"cds_end": null,
"cds_length": 1356,
"cdna_start": 1611,
"cdna_end": null,
"cdna_length": 2137,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001374875.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FARS2",
"gene_hgnc_id": 21062,
"hgvs_c": "c.984T>C",
"hgvs_p": "p.Asp328Asp",
"transcript": "NM_001374876.1",
"protein_id": "NP_001361805.1",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 451,
"cds_start": 984,
"cds_end": null,
"cds_length": 1356,
"cdna_start": 1217,
"cdna_end": null,
"cdna_length": 1743,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001374876.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FARS2",
"gene_hgnc_id": 21062,
"hgvs_c": "c.984T>C",
"hgvs_p": "p.Asp328Asp",
"transcript": "NM_001374877.1",
"protein_id": "NP_001361806.1",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 451,
"cds_start": 984,
"cds_end": null,
"cds_length": 1356,
"cdna_start": 1675,
"cdna_end": null,
"cdna_length": 2201,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001374877.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FARS2",
"gene_hgnc_id": 21062,
"hgvs_c": "c.984T>C",
"hgvs_p": "p.Asp328Asp",
"transcript": "NM_001374878.1",
"protein_id": "NP_001361807.1",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 451,
"cds_start": 984,
"cds_end": null,
"cds_length": 1356,
"cdna_start": 1390,
"cdna_end": null,
"cdna_length": 1916,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001374878.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FARS2",
"gene_hgnc_id": 21062,
"hgvs_c": "c.984T>C",
"hgvs_p": "p.Asp328Asp",
"transcript": "NM_001374879.1",
"protein_id": "NP_001361808.1",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 451,
"cds_start": 984,
"cds_end": null,
"cds_length": 1356,
"cdna_start": 1242,
"cdna_end": null,
"cdna_length": 1768,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001374879.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FARS2",
"gene_hgnc_id": 21062,
"hgvs_c": "c.984T>C",
"hgvs_p": "p.Asp328Asp",
"transcript": "NM_001375257.1",
"protein_id": "NP_001362186.1",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 451,
"cds_start": 984,
"cds_end": null,
"cds_length": 1356,
"cdna_start": 1235,
"cdna_end": null,
"cdna_length": 1761,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375257.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FARS2",
"gene_hgnc_id": 21062,
"hgvs_c": "c.984T>C",
"hgvs_p": "p.Asp328Asp",
"transcript": "ENST00000897566.1",
"protein_id": "ENSP00000567625.1",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 451,
"cds_start": 984,
"cds_end": null,
"cds_length": 1356,
"cdna_start": 2137,
"cdna_end": null,
"cdna_length": 2663,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897566.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FARS2",
"gene_hgnc_id": 21062,
"hgvs_c": "c.984T>C",
"hgvs_p": "p.Asp328Asp",
"transcript": "ENST00000897567.1",
"protein_id": "ENSP00000567626.1",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 451,
"cds_start": 984,
"cds_end": null,
"cds_length": 1356,
"cdna_start": 1093,
"cdna_end": null,
"cdna_length": 1621,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897567.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FARS2",
"gene_hgnc_id": 21062,
"hgvs_c": "c.984T>C",
"hgvs_p": "p.Asp328Asp",
"transcript": "ENST00000897568.1",
"protein_id": "ENSP00000567627.1",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 451,
"cds_start": 984,
"cds_end": null,
"cds_length": 1356,
"cdna_start": 1093,
"cdna_end": null,
"cdna_length": 1618,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897568.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FARS2",
"gene_hgnc_id": 21062,
"hgvs_c": "c.984T>C",
"hgvs_p": "p.Asp328Asp",
"transcript": "ENST00000897570.1",
"protein_id": "ENSP00000567629.1",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 451,
"cds_start": 984,
"cds_end": null,
"cds_length": 1356,
"cdna_start": 1247,
"cdna_end": null,
"cdna_length": 1781,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897570.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FARS2",
"gene_hgnc_id": 21062,
"hgvs_c": "c.984T>C",
"hgvs_p": "p.Asp328Asp",
"transcript": "ENST00000897571.1",
"protein_id": "ENSP00000567630.1",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 451,
"cds_start": 984,
"cds_end": null,
"cds_length": 1356,
"cdna_start": 1160,
"cdna_end": null,
"cdna_length": 1687,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897571.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FARS2",
"gene_hgnc_id": 21062,
"hgvs_c": "c.984T>C",
"hgvs_p": "p.Asp328Asp",
"transcript": "ENST00000897572.1",
"protein_id": "ENSP00000567631.1",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 451,
"cds_start": 984,
"cds_end": null,
"cds_length": 1356,
"cdna_start": 1245,
"cdna_end": null,
"cdna_length": 1768,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897572.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FARS2",
"gene_hgnc_id": 21062,
"hgvs_c": "c.984T>C",
"hgvs_p": "p.Asp328Asp",
"transcript": "ENST00000897573.1",
"protein_id": "ENSP00000567632.1",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 451,
"cds_start": 984,
"cds_end": null,
"cds_length": 1356,
"cdna_start": 1300,
"cdna_end": null,
"cdna_length": 1828,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897573.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FARS2",
"gene_hgnc_id": 21062,
"hgvs_c": "c.984T>C",
"hgvs_p": "p.Asp328Asp",
"transcript": "ENST00000897574.1",
"protein_id": "ENSP00000567633.1",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 451,
"cds_start": 984,
"cds_end": null,
"cds_length": 1356,
"cdna_start": 1162,
"cdna_end": null,
"cdna_length": 1691,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897574.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FARS2",
"gene_hgnc_id": 21062,
"hgvs_c": "c.984T>C",
"hgvs_p": "p.Asp328Asp",
"transcript": "ENST00000897575.1",
"protein_id": "ENSP00000567634.1",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 451,
"cds_start": 984,
"cds_end": null,
"cds_length": 1356,
"cdna_start": 1201,
"cdna_end": null,
"cdna_length": 1729,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897575.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FARS2",
"gene_hgnc_id": 21062,
"hgvs_c": "c.984T>C",
"hgvs_p": "p.Asp328Asp",
"transcript": "ENST00000897576.1",
"protein_id": "ENSP00000567635.1",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 451,
"cds_start": 984,
"cds_end": null,
"cds_length": 1356,
"cdna_start": 1290,
"cdna_end": null,
"cdna_length": 1818,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897576.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FARS2",
"gene_hgnc_id": 21062,
"hgvs_c": "c.984T>C",
"hgvs_p": "p.Asp328Asp",
"transcript": "ENST00000897577.1",
"protein_id": "ENSP00000567636.1",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 451,
"cds_start": 984,
"cds_end": null,
"cds_length": 1356,
"cdna_start": 2830,
"cdna_end": null,
"cdna_length": 3355,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897577.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FARS2",
"gene_hgnc_id": 21062,
"hgvs_c": "c.984T>C",
"hgvs_p": "p.Asp328Asp",
"transcript": "ENST00000897580.1",
"protein_id": "ENSP00000567639.1",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 451,
"cds_start": 984,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": 1839,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007059197.1"
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FARS2",
"gene_hgnc_id": 21062,
"hgvs_c": "n.*29T>C",
"hgvs_p": null,
"transcript": "XR_007059198.1",
"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": 1256,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007059198.1"
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FARS2",
"gene_hgnc_id": 21062,
"hgvs_c": "n.*29T>C",
"hgvs_p": null,
"transcript": "XR_926027.4",
"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": 1635,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_926027.4"
}
],
"gene_symbol": "FARS2",
"gene_hgnc_id": 21062,
"dbsnp": "rs201390927",
"frequency_reference_population": 0.000008053964,
"hom_count_reference_population": 0,
"allele_count_reference_population": 13,
"gnomad_exomes_af": 0.0000041046,
"gnomad_genomes_af": 0.0000459505,
"gnomad_exomes_ac": 6,
"gnomad_genomes_ac": 7,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.5099999904632568,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.51,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.661,
"phylop100way_prediction": "Benign",
"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": -11,
"acmg_classification": "Benign",
"acmg_criteria": "PM2,BP4_Strong,BP6_Very_Strong,BP7",
"acmg_by_gene": [
{
"score": -11,
"benign_score": 13,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Very_Strong",
"BP7"
],
"verdict": "Benign",
"transcript": "NM_006567.5",
"gene_symbol": "FARS2",
"hgnc_id": 21062,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.984T>C",
"hgvs_p": "p.Asp328Asp"
}
],
"clinvar_disease": "Combined oxidative phosphorylation defect type 14,FARS2-related disorder",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2",
"phenotype_combined": "Combined oxidative phosphorylation defect type 14|FARS2-related disorder",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}