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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: 10-87754757-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=87754757&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 87754757,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_032810.4",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "V",
"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.1016C>T",
"hgvs_p": "p.Ala339Val",
"transcript": "NM_001321967.2",
"protein_id": "NP_001308896.1",
"transcript_support_level": null,
"aa_start": 339,
"aa_end": null,
"aa_length": 361,
"cds_start": 1016,
"cds_end": null,
"cds_length": 1086,
"cdna_start": 1089,
"cdna_end": null,
"cdna_length": 4334,
"mane_select": "ENST00000680024.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321967.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"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.1016C>T",
"hgvs_p": "p.Ala339Val",
"transcript": "ENST00000680024.1",
"protein_id": "ENSP00000506333.1",
"transcript_support_level": null,
"aa_start": 339,
"aa_end": null,
"aa_length": 361,
"cds_start": 1016,
"cds_end": null,
"cds_length": 1086,
"cdna_start": 1089,
"cdna_end": null,
"cdna_length": 4334,
"mane_select": "NM_001321967.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000680024.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"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.1016C>T",
"hgvs_p": "p.Ala339Val",
"transcript": "ENST00000328142.3",
"protein_id": "ENSP00000339016.2",
"transcript_support_level": 1,
"aa_start": 339,
"aa_end": null,
"aa_length": 361,
"cds_start": 1016,
"cds_end": null,
"cds_length": 1086,
"cdna_start": 1299,
"cdna_end": null,
"cdna_length": 2939,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000328142.3"
},
{
"aa_ref": "A",
"aa_alt": "V",
"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.1040C>T",
"hgvs_p": "p.Ala347Val",
"transcript": "ENST00000944904.1",
"protein_id": "ENSP00000614963.1",
"transcript_support_level": null,
"aa_start": 347,
"aa_end": null,
"aa_length": 369,
"cds_start": 1040,
"cds_end": null,
"cds_length": 1110,
"cdna_start": 1100,
"cdna_end": null,
"cdna_length": 2446,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944904.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"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.1040C>T",
"hgvs_p": "p.Ala347Val",
"transcript": "ENST00000944905.1",
"protein_id": "ENSP00000614964.1",
"transcript_support_level": null,
"aa_start": 347,
"aa_end": null,
"aa_length": 369,
"cds_start": 1040,
"cds_end": null,
"cds_length": 1110,
"cdna_start": 1433,
"cdna_end": null,
"cdna_length": 2780,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944905.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"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.1016C>T",
"hgvs_p": "p.Ala339Val",
"transcript": "NM_032810.4",
"protein_id": "NP_116199.2",
"transcript_support_level": null,
"aa_start": 339,
"aa_end": null,
"aa_length": 361,
"cds_start": 1016,
"cds_end": null,
"cds_length": 1086,
"cdna_start": 1461,
"cdna_end": null,
"cdna_length": 4706,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_032810.4"
},
{
"aa_ref": "A",
"aa_alt": "V",
"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.1016C>T",
"hgvs_p": "p.Ala339Val",
"transcript": "ENST00000308448.11",
"protein_id": "ENSP00000339017.4",
"transcript_support_level": 2,
"aa_start": 339,
"aa_end": null,
"aa_length": 361,
"cds_start": 1016,
"cds_end": null,
"cds_length": 1086,
"cdna_start": 1395,
"cdna_end": null,
"cdna_length": 4640,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000308448.11"
},
{
"aa_ref": "A",
"aa_alt": "V",
"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.1016C>T",
"hgvs_p": "p.Ala339Val",
"transcript": "ENST00000852089.1",
"protein_id": "ENSP00000522148.1",
"transcript_support_level": null,
"aa_start": 339,
"aa_end": null,
"aa_length": 361,
"cds_start": 1016,
"cds_end": null,
"cds_length": 1086,
"cdna_start": 1449,
"cdna_end": null,
"cdna_length": 4351,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852089.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"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.1016C>T",
"hgvs_p": "p.Ala339Val",
"transcript": "ENST00000852092.1",
"protein_id": "ENSP00000522151.1",
"transcript_support_level": null,
"aa_start": 339,
"aa_end": null,
"aa_length": 361,
"cds_start": 1016,
"cds_end": null,
"cds_length": 1086,
"cdna_start": 1480,
"cdna_end": null,
"cdna_length": 4300,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852092.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"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.1016C>T",
"hgvs_p": "p.Ala339Val",
"transcript": "ENST00000852098.1",
"protein_id": "ENSP00000522157.1",
"transcript_support_level": null,
"aa_start": 339,
"aa_end": null,
"aa_length": 361,
"cds_start": 1016,
"cds_end": null,
"cds_length": 1086,
"cdna_start": 1456,
"cdna_end": null,
"cdna_length": 3094,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852098.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"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.1016C>T",
"hgvs_p": "p.Ala339Val",
"transcript": "ENST00000852100.1",
"protein_id": "ENSP00000522159.1",
"transcript_support_level": null,
"aa_start": 339,
"aa_end": null,
"aa_length": 361,
"cds_start": 1016,
"cds_end": null,
"cds_length": 1086,
"cdna_start": 1506,
"cdna_end": null,
"cdna_length": 3081,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852100.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"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.1016C>T",
"hgvs_p": "p.Ala339Val",
"transcript": "ENST00000852101.1",
"protein_id": "ENSP00000522160.1",
"transcript_support_level": null,
"aa_start": 339,
"aa_end": null,
"aa_length": 361,
"cds_start": 1016,
"cds_end": null,
"cds_length": 1086,
"cdna_start": 1039,
"cdna_end": null,
"cdna_length": 2210,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852101.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"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.1016C>T",
"hgvs_p": "p.Ala339Val",
"transcript": "ENST00000852102.1",
"protein_id": "ENSP00000522161.1",
"transcript_support_level": null,
"aa_start": 339,
"aa_end": null,
"aa_length": 361,
"cds_start": 1016,
"cds_end": null,
"cds_length": 1086,
"cdna_start": 2586,
"cdna_end": null,
"cdna_length": 3127,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852102.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"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.1016C>T",
"hgvs_p": "p.Ala339Val",
"transcript": "ENST00000852103.1",
"protein_id": "ENSP00000522162.1",
"transcript_support_level": null,
"aa_start": 339,
"aa_end": null,
"aa_length": 361,
"cds_start": 1016,
"cds_end": null,
"cds_length": 1086,
"cdna_start": 1073,
"cdna_end": null,
"cdna_length": 1166,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852103.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"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.1016C>T",
"hgvs_p": "p.Ala339Val",
"transcript": "ENST00000940754.1",
"protein_id": "ENSP00000610813.1",
"transcript_support_level": null,
"aa_start": 339,
"aa_end": null,
"aa_length": 361,
"cds_start": 1016,
"cds_end": null,
"cds_length": 1086,
"cdna_start": 1139,
"cdna_end": null,
"cdna_length": 4239,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940754.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"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.1016C>T",
"hgvs_p": "p.Ala339Val",
"transcript": "ENST00000944899.1",
"protein_id": "ENSP00000614958.1",
"transcript_support_level": null,
"aa_start": 339,
"aa_end": null,
"aa_length": 361,
"cds_start": 1016,
"cds_end": null,
"cds_length": 1086,
"cdna_start": 1152,
"cdna_end": null,
"cdna_length": 2805,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944899.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"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.1016C>T",
"hgvs_p": "p.Ala339Val",
"transcript": "ENST00000944906.1",
"protein_id": "ENSP00000614965.1",
"transcript_support_level": null,
"aa_start": 339,
"aa_end": null,
"aa_length": 361,
"cds_start": 1016,
"cds_end": null,
"cds_length": 1086,
"cdna_start": 1446,
"cdna_end": null,
"cdna_length": 2785,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944906.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"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.1016C>T",
"hgvs_p": "p.Ala339Val",
"transcript": "ENST00000944907.1",
"protein_id": "ENSP00000614966.1",
"transcript_support_level": null,
"aa_start": 339,
"aa_end": null,
"aa_length": 361,
"cds_start": 1016,
"cds_end": null,
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"cdna_start": 1099,
"cdna_end": null,
"cdna_length": 2660,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944907.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"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.1016C>T",
"hgvs_p": "p.Ala339Val",
"transcript": "ENST00000944908.1",
"protein_id": "ENSP00000614967.1",
"transcript_support_level": null,
"aa_start": 339,
"aa_end": null,
"aa_length": 361,
"cds_start": 1016,
"cds_end": null,
"cds_length": 1086,
"cdna_start": 1241,
"cdna_end": null,
"cdna_length": 2276,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944908.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"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.992C>T",
"hgvs_p": "p.Ala331Val",
"transcript": "ENST00000852094.1",
"protein_id": "ENSP00000522153.1",
"transcript_support_level": null,
"aa_start": 331,
"aa_end": null,
"aa_length": 353,
"cds_start": 992,
"cds_end": null,
"cds_length": 1062,
"cdna_start": 1063,
"cdna_end": null,
"cdna_length": 2703,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852094.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"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.992C>T",
"hgvs_p": "p.Ala331Val",
"transcript": "ENST00000944900.1",
"protein_id": "ENSP00000614959.1",
"transcript_support_level": null,
"aa_start": 331,
"aa_end": null,
"aa_length": 353,
"cds_start": 992,
"cds_end": null,
"cds_length": 1062,
"cdna_start": 1385,
"cdna_end": null,
"cdna_length": 3024,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944900.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"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.965C>T",
"hgvs_p": "p.Ala322Val",
"transcript": "ENST00000944901.1",
"protein_id": "ENSP00000614960.1",
"transcript_support_level": null,
"aa_start": 322,
"aa_end": null,
"aa_length": 344,
"cds_start": 965,
"cds_end": null,
"cds_length": 1035,
"cdna_start": 1351,
"cdna_end": null,
"cdna_length": 2990,
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"cdna_start": null,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"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",
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"hgvs_c": "n.1176C>T",
"hgvs_p": null,
"transcript": "NR_135914.2",
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"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",
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"hgvs_c": "n.*305C>T",
"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.*680C>T",
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"transcript": "ENST00000681308.1",
"protein_id": "ENSP00000506112.1",
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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": 4045,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000681308.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
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"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATAD1",
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"hgvs_c": "n.*633C>T",
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"transcript": "ENST00000681602.1",
"protein_id": "ENSP00000505593.1",
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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": 1510,
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"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000681602.1"
},
{
"aa_ref": null,
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"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.*268C>T",
"hgvs_p": null,
"transcript": "ENST00000681629.1",
"protein_id": "ENSP00000506152.1",
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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": 1378,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000681629.1"
}
],
"gene_symbol": "ATAD1",
"gene_hgnc_id": 25903,
"dbsnp": "rs369812479",
"frequency_reference_population": 0.00001973866,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.0000197387,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5361137986183167,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.1599999964237213,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.772,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.8946,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.2,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 8.683,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.16,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_032810.4",
"gene_symbol": "ATAD1",
"hgnc_id": 25903,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.1016C>T",
"hgvs_p": "p.Ala339Val"
}
],
"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
}