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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: 10-87754751-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=87754751&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 87754751,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_032810.4",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATAD1",
"gene_hgnc_id": 25903,
"hgvs_c": "c.1022A>G",
"hgvs_p": "p.Glu341Gly",
"transcript": "NM_001321967.2",
"protein_id": "NP_001308896.1",
"transcript_support_level": null,
"aa_start": 341,
"aa_end": null,
"aa_length": 361,
"cds_start": 1022,
"cds_end": null,
"cds_length": 1086,
"cdna_start": 1095,
"cdna_end": null,
"cdna_length": 4334,
"mane_select": "ENST00000680024.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321967.2"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATAD1",
"gene_hgnc_id": 25903,
"hgvs_c": "c.1022A>G",
"hgvs_p": "p.Glu341Gly",
"transcript": "ENST00000680024.1",
"protein_id": "ENSP00000506333.1",
"transcript_support_level": null,
"aa_start": 341,
"aa_end": null,
"aa_length": 361,
"cds_start": 1022,
"cds_end": null,
"cds_length": 1086,
"cdna_start": 1095,
"cdna_end": null,
"cdna_length": 4334,
"mane_select": "NM_001321967.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000680024.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATAD1",
"gene_hgnc_id": 25903,
"hgvs_c": "c.1022A>G",
"hgvs_p": "p.Glu341Gly",
"transcript": "ENST00000328142.3",
"protein_id": "ENSP00000339016.2",
"transcript_support_level": 1,
"aa_start": 341,
"aa_end": null,
"aa_length": 361,
"cds_start": 1022,
"cds_end": null,
"cds_length": 1086,
"cdna_start": 1305,
"cdna_end": null,
"cdna_length": 2939,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000328142.3"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATAD1",
"gene_hgnc_id": 25903,
"hgvs_c": "c.1046A>G",
"hgvs_p": "p.Glu349Gly",
"transcript": "ENST00000944904.1",
"protein_id": "ENSP00000614963.1",
"transcript_support_level": null,
"aa_start": 349,
"aa_end": null,
"aa_length": 369,
"cds_start": 1046,
"cds_end": null,
"cds_length": 1110,
"cdna_start": 1106,
"cdna_end": null,
"cdna_length": 2446,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944904.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATAD1",
"gene_hgnc_id": 25903,
"hgvs_c": "c.1046A>G",
"hgvs_p": "p.Glu349Gly",
"transcript": "ENST00000944905.1",
"protein_id": "ENSP00000614964.1",
"transcript_support_level": null,
"aa_start": 349,
"aa_end": null,
"aa_length": 369,
"cds_start": 1046,
"cds_end": null,
"cds_length": 1110,
"cdna_start": 1439,
"cdna_end": null,
"cdna_length": 2780,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944905.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATAD1",
"gene_hgnc_id": 25903,
"hgvs_c": "c.1022A>G",
"hgvs_p": "p.Glu341Gly",
"transcript": "NM_032810.4",
"protein_id": "NP_116199.2",
"transcript_support_level": null,
"aa_start": 341,
"aa_end": null,
"aa_length": 361,
"cds_start": 1022,
"cds_end": null,
"cds_length": 1086,
"cdna_start": 1467,
"cdna_end": null,
"cdna_length": 4706,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_032810.4"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATAD1",
"gene_hgnc_id": 25903,
"hgvs_c": "c.1022A>G",
"hgvs_p": "p.Glu341Gly",
"transcript": "ENST00000308448.11",
"protein_id": "ENSP00000339017.4",
"transcript_support_level": 2,
"aa_start": 341,
"aa_end": null,
"aa_length": 361,
"cds_start": 1022,
"cds_end": null,
"cds_length": 1086,
"cdna_start": 1401,
"cdna_end": null,
"cdna_length": 4640,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000308448.11"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATAD1",
"gene_hgnc_id": 25903,
"hgvs_c": "c.1022A>G",
"hgvs_p": "p.Glu341Gly",
"transcript": "ENST00000852089.1",
"protein_id": "ENSP00000522148.1",
"transcript_support_level": null,
"aa_start": 341,
"aa_end": null,
"aa_length": 361,
"cds_start": 1022,
"cds_end": null,
"cds_length": 1086,
"cdna_start": 1455,
"cdna_end": null,
"cdna_length": 4351,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852089.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATAD1",
"gene_hgnc_id": 25903,
"hgvs_c": "c.1022A>G",
"hgvs_p": "p.Glu341Gly",
"transcript": "ENST00000852092.1",
"protein_id": "ENSP00000522151.1",
"transcript_support_level": null,
"aa_start": 341,
"aa_end": null,
"aa_length": 361,
"cds_start": 1022,
"cds_end": null,
"cds_length": 1086,
"cdna_start": 1486,
"cdna_end": null,
"cdna_length": 4300,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852092.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATAD1",
"gene_hgnc_id": 25903,
"hgvs_c": "c.1022A>G",
"hgvs_p": "p.Glu341Gly",
"transcript": "ENST00000852098.1",
"protein_id": "ENSP00000522157.1",
"transcript_support_level": null,
"aa_start": 341,
"aa_end": null,
"aa_length": 361,
"cds_start": 1022,
"cds_end": null,
"cds_length": 1086,
"cdna_start": 1462,
"cdna_end": null,
"cdna_length": 3094,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852098.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATAD1",
"gene_hgnc_id": 25903,
"hgvs_c": "c.1022A>G",
"hgvs_p": "p.Glu341Gly",
"transcript": "ENST00000852100.1",
"protein_id": "ENSP00000522159.1",
"transcript_support_level": null,
"aa_start": 341,
"aa_end": null,
"aa_length": 361,
"cds_start": 1022,
"cds_end": null,
"cds_length": 1086,
"cdna_start": 1512,
"cdna_end": null,
"cdna_length": 3081,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852100.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATAD1",
"gene_hgnc_id": 25903,
"hgvs_c": "c.1022A>G",
"hgvs_p": "p.Glu341Gly",
"transcript": "ENST00000852101.1",
"protein_id": "ENSP00000522160.1",
"transcript_support_level": null,
"aa_start": 341,
"aa_end": null,
"aa_length": 361,
"cds_start": 1022,
"cds_end": null,
"cds_length": 1086,
"cdna_start": 1045,
"cdna_end": null,
"cdna_length": 2210,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852101.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATAD1",
"gene_hgnc_id": 25903,
"hgvs_c": "c.1022A>G",
"hgvs_p": "p.Glu341Gly",
"transcript": "ENST00000852102.1",
"protein_id": "ENSP00000522161.1",
"transcript_support_level": null,
"aa_start": 341,
"aa_end": null,
"aa_length": 361,
"cds_start": 1022,
"cds_end": null,
"cds_length": 1086,
"cdna_start": 2592,
"cdna_end": null,
"cdna_length": 3127,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852102.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATAD1",
"gene_hgnc_id": 25903,
"hgvs_c": "c.1022A>G",
"hgvs_p": "p.Glu341Gly",
"transcript": "ENST00000852103.1",
"protein_id": "ENSP00000522162.1",
"transcript_support_level": null,
"aa_start": 341,
"aa_end": null,
"aa_length": 361,
"cds_start": 1022,
"cds_end": null,
"cds_length": 1086,
"cdna_start": 1079,
"cdna_end": null,
"cdna_length": 1166,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852103.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATAD1",
"gene_hgnc_id": 25903,
"hgvs_c": "c.1022A>G",
"hgvs_p": "p.Glu341Gly",
"transcript": "ENST00000940754.1",
"protein_id": "ENSP00000610813.1",
"transcript_support_level": null,
"aa_start": 341,
"aa_end": null,
"aa_length": 361,
"cds_start": 1022,
"cds_end": null,
"cds_length": 1086,
"cdna_start": 1145,
"cdna_end": null,
"cdna_length": 4239,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940754.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATAD1",
"gene_hgnc_id": 25903,
"hgvs_c": "c.1022A>G",
"hgvs_p": "p.Glu341Gly",
"transcript": "ENST00000944899.1",
"protein_id": "ENSP00000614958.1",
"transcript_support_level": null,
"aa_start": 341,
"aa_end": null,
"aa_length": 361,
"cds_start": 1022,
"cds_end": null,
"cds_length": 1086,
"cdna_start": 1158,
"cdna_end": null,
"cdna_length": 2805,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944899.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATAD1",
"gene_hgnc_id": 25903,
"hgvs_c": "c.1022A>G",
"hgvs_p": "p.Glu341Gly",
"transcript": "ENST00000944906.1",
"protein_id": "ENSP00000614965.1",
"transcript_support_level": null,
"aa_start": 341,
"aa_end": null,
"aa_length": 361,
"cds_start": 1022,
"cds_end": null,
"cds_length": 1086,
"cdna_start": 1452,
"cdna_end": null,
"cdna_length": 2785,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944906.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATAD1",
"gene_hgnc_id": 25903,
"hgvs_c": "c.1022A>G",
"hgvs_p": "p.Glu341Gly",
"transcript": "ENST00000944907.1",
"protein_id": "ENSP00000614966.1",
"transcript_support_level": null,
"aa_start": 341,
"aa_end": null,
"aa_length": 361,
"cds_start": 1022,
"cds_end": null,
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"cdna_start": 1105,
"cdna_end": null,
"cdna_length": 2660,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944907.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATAD1",
"gene_hgnc_id": 25903,
"hgvs_c": "c.1022A>G",
"hgvs_p": "p.Glu341Gly",
"transcript": "ENST00000944908.1",
"protein_id": "ENSP00000614967.1",
"transcript_support_level": null,
"aa_start": 341,
"aa_end": null,
"aa_length": 361,
"cds_start": 1022,
"cds_end": null,
"cds_length": 1086,
"cdna_start": 1247,
"cdna_end": null,
"cdna_length": 2276,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944908.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATAD1",
"gene_hgnc_id": 25903,
"hgvs_c": "c.998A>G",
"hgvs_p": "p.Glu333Gly",
"transcript": "ENST00000852094.1",
"protein_id": "ENSP00000522153.1",
"transcript_support_level": null,
"aa_start": 333,
"aa_end": null,
"aa_length": 353,
"cds_start": 998,
"cds_end": null,
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"cdna_start": 1069,
"cdna_end": null,
"cdna_length": 2703,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852094.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATAD1",
"gene_hgnc_id": 25903,
"hgvs_c": "c.998A>G",
"hgvs_p": "p.Glu333Gly",
"transcript": "ENST00000944900.1",
"protein_id": "ENSP00000614959.1",
"transcript_support_level": null,
"aa_start": 333,
"aa_end": null,
"aa_length": 353,
"cds_start": 998,
"cds_end": null,
"cds_length": 1062,
"cdna_start": 1391,
"cdna_end": null,
"cdna_length": 3024,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944900.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATAD1",
"gene_hgnc_id": 25903,
"hgvs_c": "c.971A>G",
"hgvs_p": "p.Glu324Gly",
"transcript": "ENST00000944901.1",
"protein_id": "ENSP00000614960.1",
"transcript_support_level": null,
"aa_start": 324,
"aa_end": null,
"aa_length": 344,
"cds_start": 971,
"cds_end": null,
"cds_length": 1035,
"cdna_start": 1357,
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"cds_start": null,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": 1378,
"mane_select": null,
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000681629.1"
},
{
"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": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATAD1",
"gene_hgnc_id": 25903,
"hgvs_c": "n.1182A>G",
"hgvs_p": null,
"transcript": "NR_135914.2",
"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": 4421,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_135914.2"
},
{
"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": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATAD1",
"gene_hgnc_id": 25903,
"hgvs_c": "n.*311A>G",
"hgvs_p": null,
"transcript": "ENST00000680388.1",
"protein_id": "ENSP00000505894.1",
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"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": 1485,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000680388.1"
},
{
"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": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATAD1",
"gene_hgnc_id": 25903,
"hgvs_c": "n.*686A>G",
"hgvs_p": null,
"transcript": "ENST00000681308.1",
"protein_id": "ENSP00000506112.1",
"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": 4045,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000681308.1"
},
{
"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": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATAD1",
"gene_hgnc_id": 25903,
"hgvs_c": "n.*639A>G",
"hgvs_p": null,
"transcript": "ENST00000681602.1",
"protein_id": "ENSP00000505593.1",
"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": 1510,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000681602.1"
},
{
"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": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATAD1",
"gene_hgnc_id": 25903,
"hgvs_c": "n.*274A>G",
"hgvs_p": null,
"transcript": "ENST00000681629.1",
"protein_id": "ENSP00000506152.1",
"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": 1378,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000681629.1"
}
],
"gene_symbol": "ATAD1",
"gene_hgnc_id": 25903,
"dbsnp": null,
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.20782789587974548,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.316,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.0957,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.05,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 4.022,
"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": 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": "NM_032810.4",
"gene_symbol": "ATAD1",
"hgnc_id": 25903,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.1022A>G",
"hgvs_p": "p.Glu341Gly"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}