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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: 6-5404635-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=5404635&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 5404635,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000274680.9",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FARS2",
"gene_hgnc_id": 21062,
"hgvs_c": "c.706G>A",
"hgvs_p": "p.Val236Met",
"transcript": "NM_006567.5",
"protein_id": "NP_006558.1",
"transcript_support_level": null,
"aa_start": 236,
"aa_end": null,
"aa_length": 451,
"cds_start": 706,
"cds_end": null,
"cds_length": 1356,
"cdna_start": 875,
"cdna_end": null,
"cdna_length": 1679,
"mane_select": "ENST00000274680.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FARS2",
"gene_hgnc_id": 21062,
"hgvs_c": "c.706G>A",
"hgvs_p": "p.Val236Met",
"transcript": "ENST00000274680.9",
"protein_id": "ENSP00000274680.4",
"transcript_support_level": 1,
"aa_start": 236,
"aa_end": null,
"aa_length": 451,
"cds_start": 706,
"cds_end": null,
"cds_length": 1356,
"cdna_start": 875,
"cdna_end": null,
"cdna_length": 1679,
"mane_select": "NM_006567.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FARS2",
"gene_hgnc_id": 21062,
"hgvs_c": "c.706G>A",
"hgvs_p": "p.Val236Met",
"transcript": "ENST00000324331.10",
"protein_id": "ENSP00000316335.5",
"transcript_support_level": 1,
"aa_start": 236,
"aa_end": null,
"aa_length": 451,
"cds_start": 706,
"cds_end": null,
"cds_length": 1356,
"cdna_start": 1042,
"cdna_end": null,
"cdna_length": 1692,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FARS2",
"gene_hgnc_id": 21062,
"hgvs_c": "c.706G>A",
"hgvs_p": "p.Val236Met",
"transcript": "NM_001318872.2",
"protein_id": "NP_001305801.1",
"transcript_support_level": null,
"aa_start": 236,
"aa_end": null,
"aa_length": 451,
"cds_start": 706,
"cds_end": null,
"cds_length": 1356,
"cdna_start": 1079,
"cdna_end": null,
"cdna_length": 1883,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FARS2",
"gene_hgnc_id": 21062,
"hgvs_c": "c.706G>A",
"hgvs_p": "p.Val236Met",
"transcript": "NM_001374875.1",
"protein_id": "NP_001361804.1",
"transcript_support_level": null,
"aa_start": 236,
"aa_end": null,
"aa_length": 451,
"cds_start": 706,
"cds_end": null,
"cds_length": 1356,
"cdna_start": 1333,
"cdna_end": null,
"cdna_length": 2137,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FARS2",
"gene_hgnc_id": 21062,
"hgvs_c": "c.706G>A",
"hgvs_p": "p.Val236Met",
"transcript": "NM_001374876.1",
"protein_id": "NP_001361805.1",
"transcript_support_level": null,
"aa_start": 236,
"aa_end": null,
"aa_length": 451,
"cds_start": 706,
"cds_end": null,
"cds_length": 1356,
"cdna_start": 939,
"cdna_end": null,
"cdna_length": 1743,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FARS2",
"gene_hgnc_id": 21062,
"hgvs_c": "c.706G>A",
"hgvs_p": "p.Val236Met",
"transcript": "NM_001374877.1",
"protein_id": "NP_001361806.1",
"transcript_support_level": null,
"aa_start": 236,
"aa_end": null,
"aa_length": 451,
"cds_start": 706,
"cds_end": null,
"cds_length": 1356,
"cdna_start": 1397,
"cdna_end": null,
"cdna_length": 2201,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FARS2",
"gene_hgnc_id": 21062,
"hgvs_c": "c.706G>A",
"hgvs_p": "p.Val236Met",
"transcript": "NM_001374878.1",
"protein_id": "NP_001361807.1",
"transcript_support_level": null,
"aa_start": 236,
"aa_end": null,
"aa_length": 451,
"cds_start": 706,
"cds_end": null,
"cds_length": 1356,
"cdna_start": 1112,
"cdna_end": null,
"cdna_length": 1916,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FARS2",
"gene_hgnc_id": 21062,
"hgvs_c": "c.706G>A",
"hgvs_p": "p.Val236Met",
"transcript": "NM_001374879.1",
"protein_id": "NP_001361808.1",
"transcript_support_level": null,
"aa_start": 236,
"aa_end": null,
"aa_length": 451,
"cds_start": 706,
"cds_end": null,
"cds_length": 1356,
"cdna_start": 964,
"cdna_end": null,
"cdna_length": 1768,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FARS2",
"gene_hgnc_id": 21062,
"hgvs_c": "c.706G>A",
"hgvs_p": "p.Val236Met",
"transcript": "NM_001375257.1",
"protein_id": "NP_001362186.1",
"transcript_support_level": null,
"aa_start": 236,
"aa_end": null,
"aa_length": 451,
"cds_start": 706,
"cds_end": null,
"cds_length": 1356,
"cdna_start": 957,
"cdna_end": null,
"cdna_length": 1761,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FARS2",
"gene_hgnc_id": 21062,
"hgvs_c": "c.706G>A",
"hgvs_p": "p.Val236Met",
"transcript": "NM_001375258.1",
"protein_id": "NP_001362187.1",
"transcript_support_level": null,
"aa_start": 236,
"aa_end": null,
"aa_length": 407,
"cds_start": 706,
"cds_end": null,
"cds_length": 1224,
"cdna_start": 875,
"cdna_end": null,
"cdna_length": 1547,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FARS2",
"gene_hgnc_id": 21062,
"hgvs_c": "c.10G>A",
"hgvs_p": "p.Val4Met",
"transcript": "NM_001375259.1",
"protein_id": "NP_001362188.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 219,
"cds_start": 10,
"cds_end": null,
"cds_length": 660,
"cdna_start": 242,
"cdna_end": null,
"cdna_length": 1046,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FARS2",
"gene_hgnc_id": 21062,
"hgvs_c": "c.10G>A",
"hgvs_p": "p.Val4Met",
"transcript": "NM_001375260.1",
"protein_id": "NP_001362189.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 219,
"cds_start": 10,
"cds_end": null,
"cds_length": 660,
"cdna_start": 498,
"cdna_end": null,
"cdna_length": 1302,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FARS2",
"gene_hgnc_id": 21062,
"hgvs_c": "c.94G>A",
"hgvs_p": "p.Val32Met",
"transcript": "ENST00000445533.1",
"protein_id": "ENSP00000392525.1",
"transcript_support_level": 3,
"aa_start": 32,
"aa_end": null,
"aa_length": 101,
"cds_start": 94,
"cds_end": null,
"cds_length": 306,
"cdna_start": 94,
"cdna_end": null,
"cdna_length": 434,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FARS2",
"gene_hgnc_id": 21062,
"hgvs_c": "c.706G>A",
"hgvs_p": "p.Val236Met",
"transcript": "XM_047418086.1",
"protein_id": "XP_047274042.1",
"transcript_support_level": null,
"aa_start": 236,
"aa_end": null,
"aa_length": 451,
"cds_start": 706,
"cds_end": null,
"cds_length": 1356,
"cdna_start": 747,
"cdna_end": null,
"cdna_length": 1551,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FARS2",
"gene_hgnc_id": 21062,
"hgvs_c": "c.706G>A",
"hgvs_p": "p.Val236Met",
"transcript": "XM_011514247.4",
"protein_id": "XP_011512549.1",
"transcript_support_level": null,
"aa_start": 236,
"aa_end": null,
"aa_length": 439,
"cds_start": 706,
"cds_end": null,
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"cdna_start": 875,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FARS2",
"gene_hgnc_id": 21062,
"hgvs_c": "c.706G>A",
"hgvs_p": "p.Val236Met",
"transcript": "XM_011514248.4",
"protein_id": "XP_011512550.1",
"transcript_support_level": null,
"aa_start": 236,
"aa_end": null,
"aa_length": 416,
"cds_start": 706,
"cds_end": null,
"cds_length": 1251,
"cdna_start": 875,
"cdna_end": null,
"cdna_length": 1714,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FARS2",
"gene_hgnc_id": 21062,
"hgvs_c": "c.706G>A",
"hgvs_p": "p.Val236Met",
"transcript": "XM_011514249.3",
"protein_id": "XP_011512551.1",
"transcript_support_level": null,
"aa_start": 236,
"aa_end": null,
"aa_length": 412,
"cds_start": 706,
"cds_end": null,
"cds_length": 1239,
"cdna_start": 875,
"cdna_end": null,
"cdna_length": 25431,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FARS2",
"gene_hgnc_id": 21062,
"hgvs_c": "c.706G>A",
"hgvs_p": "p.Val236Met",
"transcript": "XM_011514251.4",
"protein_id": "XP_011512553.1",
"transcript_support_level": null,
"aa_start": 236,
"aa_end": null,
"aa_length": 314,
"cds_start": 706,
"cds_end": null,
"cds_length": 945,
"cdna_start": 875,
"cdna_end": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FARS2",
"gene_hgnc_id": 21062,
"hgvs_c": "c.706G>A",
"hgvs_p": "p.Val236Met",
"transcript": "XM_006714966.4",
"protein_id": "XP_006715029.1",
"transcript_support_level": null,
"aa_start": 236,
"aa_end": null,
"aa_length": 305,
"cds_start": 706,
"cds_end": null,
"cds_length": 918,
"cdna_start": 875,
"cdna_end": null,
"cdna_length": 1215,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FARS2",
"gene_hgnc_id": 21062,
"hgvs_c": "c.706G>A",
"hgvs_p": "p.Val236Met",
"transcript": "XM_047418087.1",
"protein_id": "XP_047274043.1",
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"aa_start": 236,
"aa_end": null,
"aa_length": 305,
"cds_start": 706,
"cds_end": null,
"cds_length": 918,
"cdna_start": 1079,
"cdna_end": null,
"cdna_length": 1419,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FARS2",
"gene_hgnc_id": 21062,
"hgvs_c": "n.706G>A",
"hgvs_p": null,
"transcript": "ENST00000648580.1",
"protein_id": "ENSP00000497889.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3884,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FARS2",
"gene_hgnc_id": 21062,
"hgvs_c": "n.939G>A",
"hgvs_p": null,
"transcript": "XR_007059196.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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},
{
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"canonical": false,
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],
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},
{
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],
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"gene_symbol": "FARS2",
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},
{
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],
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"gene_symbol": "FARS2",
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},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
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"gene_symbol": "FARS2",
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"hgvs_c": "n.875G>A",
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"transcript": "XR_926027.4",
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}
],
"gene_symbol": "FARS2",
"gene_hgnc_id": 21062,
"dbsnp": "rs369015058",
"frequency_reference_population": 0.00004154879,
"hom_count_reference_population": 0,
"allele_count_reference_population": 67,
"gnomad_exomes_af": 0.0000431398,
"gnomad_genomes_af": 0.0000262826,
"gnomad_exomes_ac": 63,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.09246468544006348,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.121,
"revel_prediction": "Benign",
"alphamissense_score": 0.0676,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.54,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.188,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000274680.9",
"gene_symbol": "FARS2",
"hgnc_id": 21062,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.706G>A",
"hgvs_p": "p.Val236Met"
}
],
"clinvar_disease": "Combined oxidative phosphorylation defect type 14",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "Combined oxidative phosphorylation defect type 14",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}