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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: 13-47988565-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=47988565&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 47988565,
"ref": "T",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "NM_003850.3",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUCLA2",
"gene_hgnc_id": 11448,
"hgvs_c": "c.510A>G",
"hgvs_p": "p.Ala170Ala",
"transcript": "NM_003850.3",
"protein_id": "NP_003841.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 463,
"cds_start": 510,
"cds_end": null,
"cds_length": 1392,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000646932.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003850.3"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUCLA2",
"gene_hgnc_id": 11448,
"hgvs_c": "c.510A>G",
"hgvs_p": "p.Ala170Ala",
"transcript": "ENST00000646932.1",
"protein_id": "ENSP00000494360.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 463,
"cds_start": 510,
"cds_end": null,
"cds_length": 1392,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003850.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000646932.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUCLA2",
"gene_hgnc_id": 11448,
"hgvs_c": "c.510A>G",
"hgvs_p": "p.Ala170Ala",
"transcript": "ENST00000643023.1",
"protein_id": "ENSP00000495664.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 484,
"cds_start": 510,
"cds_end": null,
"cds_length": 1455,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000643023.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUCLA2",
"gene_hgnc_id": 11448,
"hgvs_c": "c.567A>G",
"hgvs_p": "p.Ala189Ala",
"transcript": "ENST00000853364.1",
"protein_id": "ENSP00000523423.1",
"transcript_support_level": null,
"aa_start": 189,
"aa_end": null,
"aa_length": 482,
"cds_start": 567,
"cds_end": null,
"cds_length": 1449,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853364.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUCLA2",
"gene_hgnc_id": 11448,
"hgvs_c": "c.510A>G",
"hgvs_p": "p.Ala170Ala",
"transcript": "ENST00000853367.1",
"protein_id": "ENSP00000523426.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 482,
"cds_start": 510,
"cds_end": null,
"cds_length": 1449,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853367.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUCLA2",
"gene_hgnc_id": 11448,
"hgvs_c": "c.510A>G",
"hgvs_p": "p.Ala170Ala",
"transcript": "ENST00000853366.1",
"protein_id": "ENSP00000523425.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 472,
"cds_start": 510,
"cds_end": null,
"cds_length": 1419,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853366.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUCLA2",
"gene_hgnc_id": 11448,
"hgvs_c": "c.510A>G",
"hgvs_p": "p.Ala170Ala",
"transcript": "ENST00000853362.1",
"protein_id": "ENSP00000523421.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 463,
"cds_start": 510,
"cds_end": null,
"cds_length": 1392,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853362.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUCLA2",
"gene_hgnc_id": 11448,
"hgvs_c": "c.510A>G",
"hgvs_p": "p.Ala170Ala",
"transcript": "ENST00000944765.1",
"protein_id": "ENSP00000614824.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 463,
"cds_start": 510,
"cds_end": null,
"cds_length": 1392,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944765.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUCLA2",
"gene_hgnc_id": 11448,
"hgvs_c": "c.507A>G",
"hgvs_p": "p.Ala169Ala",
"transcript": "ENST00000944768.1",
"protein_id": "ENSP00000614827.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 462,
"cds_start": 507,
"cds_end": null,
"cds_length": 1389,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944768.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUCLA2",
"gene_hgnc_id": 11448,
"hgvs_c": "c.510A>G",
"hgvs_p": "p.Ala170Ala",
"transcript": "ENST00000934768.1",
"protein_id": "ENSP00000604827.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 460,
"cds_start": 510,
"cds_end": null,
"cds_length": 1383,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934768.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUCLA2",
"gene_hgnc_id": 11448,
"hgvs_c": "c.510A>G",
"hgvs_p": "p.Ala170Ala",
"transcript": "ENST00000944766.1",
"protein_id": "ENSP00000614825.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 449,
"cds_start": 510,
"cds_end": null,
"cds_length": 1350,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944766.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUCLA2",
"gene_hgnc_id": 11448,
"hgvs_c": "c.510A>G",
"hgvs_p": "p.Ala170Ala",
"transcript": "ENST00000853363.1",
"protein_id": "ENSP00000523422.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 443,
"cds_start": 510,
"cds_end": null,
"cds_length": 1332,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853363.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUCLA2",
"gene_hgnc_id": 11448,
"hgvs_c": "c.417A>G",
"hgvs_p": "p.Ala139Ala",
"transcript": "ENST00000944769.1",
"protein_id": "ENSP00000614828.1",
"transcript_support_level": null,
"aa_start": 139,
"aa_end": null,
"aa_length": 432,
"cds_start": 417,
"cds_end": null,
"cds_length": 1299,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944769.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUCLA2",
"gene_hgnc_id": 11448,
"hgvs_c": "c.510A>G",
"hgvs_p": "p.Ala170Ala",
"transcript": "ENST00000853365.1",
"protein_id": "ENSP00000523424.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 420,
"cds_start": 510,
"cds_end": null,
"cds_length": 1263,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853365.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUCLA2",
"gene_hgnc_id": 11448,
"hgvs_c": "c.336A>G",
"hgvs_p": "p.Ala112Ala",
"transcript": "ENST00000642944.1",
"protein_id": "ENSP00000495674.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 405,
"cds_start": 336,
"cds_end": null,
"cds_length": 1218,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000642944.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUCLA2",
"gene_hgnc_id": 11448,
"hgvs_c": "c.336A>G",
"hgvs_p": "p.Ala112Ala",
"transcript": "ENST00000646804.1",
"protein_id": "ENSP00000493977.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 405,
"cds_start": 336,
"cds_end": null,
"cds_length": 1218,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000646804.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUCLA2",
"gene_hgnc_id": 11448,
"hgvs_c": "c.510A>G",
"hgvs_p": "p.Ala170Ala",
"transcript": "ENST00000944767.1",
"protein_id": "ENSP00000614826.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 393,
"cds_start": 510,
"cds_end": null,
"cds_length": 1182,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944767.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"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": "SUCLA2",
"gene_hgnc_id": 11448,
"hgvs_c": "c.300A>G",
"hgvs_p": "p.Ala100Ala",
"transcript": "ENST00000434484.5",
"protein_id": "ENSP00000392771.1",
"transcript_support_level": 5,
"aa_start": 100,
"aa_end": null,
"aa_length": 297,
"cds_start": 300,
"cds_end": null,
"cds_length": 894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000434484.5"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUCLA2",
"gene_hgnc_id": 11448,
"hgvs_c": "c.510A>G",
"hgvs_p": "p.Ala170Ala",
"transcript": "ENST00000646602.1",
"protein_id": "ENSP00000495250.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 224,
"cds_start": 510,
"cds_end": null,
"cds_length": 675,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000646602.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUCLA2",
"gene_hgnc_id": 11448,
"hgvs_c": "c.510A>G",
"hgvs_p": "p.Ala170Ala",
"transcript": "ENST00000644338.1",
"protein_id": "ENSP00000494723.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 221,
"cds_start": 510,
"cds_end": null,
"cds_length": 666,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000644338.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUCLA2",
"gene_hgnc_id": 11448,
"hgvs_c": "c.510A>G",
"hgvs_p": "p.Ala170Ala",
"transcript": "ENST00000470760.2",
"protein_id": "ENSP00000488974.1",
"transcript_support_level": 2,
"aa_start": 170,
"aa_end": null,
"aa_length": 191,
"cds_start": 510,
"cds_end": null,
"cds_length": 576,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000470760.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SUCLA2",
"gene_hgnc_id": 11448,
"hgvs_c": "c.90+12615A>G",
"hgvs_p": null,
"transcript": "ENST00000433022.1",
"protein_id": "ENSP00000415091.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 153,
"cds_start": null,
"cds_end": null,
"cds_length": 463,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000433022.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
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"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUCLA2",
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"hgvs_c": "n.*193A>G",
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"transcript": "ENST00000497202.6",
"protein_id": "ENSP00000489175.1",
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"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000497202.6"
},
{
"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": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUCLA2",
"gene_hgnc_id": 11448,
"hgvs_c": "n.510A>G",
"hgvs_p": null,
"transcript": "ENST00000643584.1",
"protein_id": "ENSP00000494987.1",
"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,
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"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000643584.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUCLA2",
"gene_hgnc_id": 11448,
"hgvs_c": "n.*303A>G",
"hgvs_p": null,
"transcript": "ENST00000647361.1",
"protein_id": "ENSP00000494607.1",
"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": "ENST00000647361.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUCLA2",
"gene_hgnc_id": 11448,
"hgvs_c": "n.*193A>G",
"hgvs_p": null,
"transcript": "ENST00000497202.6",
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"aa_length": null,
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"cds_end": null,
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"cdna_start": null,
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000497202.6"
},
{
"aa_ref": null,
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"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
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"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUCLA2",
"gene_hgnc_id": 11448,
"hgvs_c": "n.*303A>G",
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"transcript": "ENST00000647361.1",
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"aa_end": null,
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"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000647361.1"
},
{
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUCLA2",
"gene_hgnc_id": 11448,
"hgvs_c": "n.-19A>G",
"hgvs_p": null,
"transcript": "ENST00000634878.2",
"protein_id": "ENSP00000489542.1",
"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": "ENST00000634878.2"
}
],
"gene_symbol": "SUCLA2",
"gene_hgnc_id": 11448,
"dbsnp": "rs35568795",
"frequency_reference_population": 0.0022615632,
"hom_count_reference_population": 74,
"allele_count_reference_population": 3650,
"gnomad_exomes_af": 0.0012158,
"gnomad_genomes_af": 0.0122949,
"gnomad_exomes_ac": 1777,
"gnomad_genomes_ac": 1873,
"gnomad_exomes_homalt": 25,
"gnomad_genomes_homalt": 49,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.5,
"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": -0.5,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.155,
"phylop100way_prediction": "Uncertain_significance",
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS1,BS2",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_003850.3",
"gene_symbol": "SUCLA2",
"hgnc_id": 11448,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR,Mitochondrial",
"hgvs_c": "c.510A>G",
"hgvs_p": "p.Ala170Ala"
}
],
"clinvar_disease": " encephalomyopathic form with methylmalonic aciduria,Mitochondrial DNA depletion syndrome,not provided,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2 B:3",
"phenotype_combined": "not specified|Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria|not provided",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}