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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: 10-87814438-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=87814438&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 87814438,
"ref": "C",
"alt": "G",
"effect": "missense_variant,splice_region_variant",
"transcript": "ENST00000680024.1",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATAD1",
"gene_hgnc_id": 25903,
"hgvs_c": "c.162G>C",
"hgvs_p": "p.Gln54His",
"transcript": "NM_001321967.2",
"protein_id": "NP_001308896.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 361,
"cds_start": 162,
"cds_end": null,
"cds_length": 1086,
"cdna_start": 235,
"cdna_end": null,
"cdna_length": 4334,
"mane_select": "ENST00000680024.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATAD1",
"gene_hgnc_id": 25903,
"hgvs_c": "c.162G>C",
"hgvs_p": "p.Gln54His",
"transcript": "ENST00000680024.1",
"protein_id": "ENSP00000506333.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 361,
"cds_start": 162,
"cds_end": null,
"cds_length": 1086,
"cdna_start": 235,
"cdna_end": null,
"cdna_length": 4334,
"mane_select": "NM_001321967.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATAD1",
"gene_hgnc_id": 25903,
"hgvs_c": "c.162G>C",
"hgvs_p": "p.Gln54His",
"transcript": "ENST00000328142.3",
"protein_id": "ENSP00000339016.2",
"transcript_support_level": 1,
"aa_start": 54,
"aa_end": null,
"aa_length": 361,
"cds_start": 162,
"cds_end": null,
"cds_length": 1086,
"cdna_start": 445,
"cdna_end": null,
"cdna_length": 2939,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATAD1",
"gene_hgnc_id": 25903,
"hgvs_c": "c.162G>C",
"hgvs_p": "p.Gln54His",
"transcript": "NM_032810.4",
"protein_id": "NP_116199.2",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 361,
"cds_start": 162,
"cds_end": null,
"cds_length": 1086,
"cdna_start": 607,
"cdna_end": null,
"cdna_length": 4706,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATAD1",
"gene_hgnc_id": 25903,
"hgvs_c": "c.162G>C",
"hgvs_p": "p.Gln54His",
"transcript": "ENST00000308448.11",
"protein_id": "ENSP00000339017.4",
"transcript_support_level": 2,
"aa_start": 54,
"aa_end": null,
"aa_length": 361,
"cds_start": 162,
"cds_end": null,
"cds_length": 1086,
"cdna_start": 541,
"cdna_end": null,
"cdna_length": 4640,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATAD1",
"gene_hgnc_id": 25903,
"hgvs_c": "c.162G>C",
"hgvs_p": "p.Gln54His",
"transcript": "NM_001321968.2",
"protein_id": "NP_001308897.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 331,
"cds_start": 162,
"cds_end": null,
"cds_length": 996,
"cdna_start": 235,
"cdna_end": null,
"cdna_length": 4244,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATAD1",
"gene_hgnc_id": 25903,
"hgvs_c": "c.-286G>C",
"hgvs_p": null,
"transcript": "NM_001321969.2",
"protein_id": "NP_001308898.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 242,
"cds_start": -4,
"cds_end": null,
"cds_length": 729,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4424,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATAD1",
"gene_hgnc_id": 25903,
"hgvs_c": "c.162G>C",
"hgvs_p": "p.Gln54His",
"transcript": "ENST00000495903.1",
"protein_id": "ENSP00000504881.1",
"transcript_support_level": 3,
"aa_start": 54,
"aa_end": null,
"aa_length": 166,
"cds_start": 162,
"cds_end": null,
"cds_length": 501,
"cdna_start": 332,
"cdna_end": null,
"cdna_length": 671,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATAD1",
"gene_hgnc_id": 25903,
"hgvs_c": "c.162G>C",
"hgvs_p": "p.Gln54His",
"transcript": "XM_005270252.6",
"protein_id": "XP_005270309.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 361,
"cds_start": 162,
"cds_end": null,
"cds_length": 1086,
"cdna_start": 350,
"cdna_end": null,
"cdna_length": 4449,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATAD1",
"gene_hgnc_id": 25903,
"hgvs_c": "c.162G>C",
"hgvs_p": "p.Gln54His",
"transcript": "XM_017016847.3",
"protein_id": "XP_016872336.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 361,
"cds_start": 162,
"cds_end": null,
"cds_length": 1086,
"cdna_start": 475,
"cdna_end": null,
"cdna_length": 4574,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATAD1",
"gene_hgnc_id": 25903,
"hgvs_c": "c.162G>C",
"hgvs_p": "p.Gln54His",
"transcript": "XM_047425908.1",
"protein_id": "XP_047281864.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 361,
"cds_start": 162,
"cds_end": null,
"cds_length": 1086,
"cdna_start": 499,
"cdna_end": null,
"cdna_length": 4598,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATAD1",
"gene_hgnc_id": 25903,
"hgvs_c": "c.162G>C",
"hgvs_p": "p.Gln54His",
"transcript": "XM_017016848.2",
"protein_id": "XP_016872337.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 331,
"cds_start": 162,
"cds_end": null,
"cds_length": 996,
"cdna_start": 607,
"cdna_end": null,
"cdna_length": 4616,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATAD1",
"gene_hgnc_id": 25903,
"hgvs_c": "c.162G>C",
"hgvs_p": "p.Gln54His",
"transcript": "XM_011540303.4",
"protein_id": "XP_011538605.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 298,
"cds_start": 162,
"cds_end": null,
"cds_length": 897,
"cdna_start": 235,
"cdna_end": null,
"cdna_length": 1739,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATAD1",
"gene_hgnc_id": 25903,
"hgvs_c": "c.162G>C",
"hgvs_p": "p.Gln54His",
"transcript": "XM_047425910.1",
"protein_id": "XP_047281866.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 298,
"cds_start": 162,
"cds_end": null,
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"cdna_start": 607,
"cdna_end": null,
"cdna_length": 2111,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATAD1",
"gene_hgnc_id": 25903,
"hgvs_c": "c.162G>C",
"hgvs_p": "p.Gln54His",
"transcript": "XM_047425911.1",
"protein_id": "XP_047281867.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 298,
"cds_start": 162,
"cds_end": null,
"cds_length": 897,
"cdna_start": 350,
"cdna_end": null,
"cdna_length": 1854,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATAD1",
"gene_hgnc_id": 25903,
"hgvs_c": "c.162G>C",
"hgvs_p": "p.Gln54His",
"transcript": "XM_047425912.1",
"protein_id": "XP_047281868.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 298,
"cds_start": 162,
"cds_end": null,
"cds_length": 897,
"cdna_start": 245,
"cdna_end": null,
"cdna_length": 1749,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATAD1",
"gene_hgnc_id": 25903,
"hgvs_c": "c.162G>C",
"hgvs_p": "p.Gln54His",
"transcript": "XM_047425913.1",
"protein_id": "XP_047281869.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 268,
"cds_start": 162,
"cds_end": null,
"cds_length": 807,
"cdna_start": 235,
"cdna_end": null,
"cdna_length": 1649,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATAD1",
"gene_hgnc_id": 25903,
"hgvs_c": "c.162G>C",
"hgvs_p": "p.Gln54His",
"transcript": "XM_017016851.3",
"protein_id": "XP_016872340.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 197,
"cds_start": 162,
"cds_end": null,
"cds_length": 594,
"cdna_start": 235,
"cdna_end": null,
"cdna_length": 857,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATAD1",
"gene_hgnc_id": 25903,
"hgvs_c": "c.162G>C",
"hgvs_p": "p.Gln54His",
"transcript": "XM_047425914.1",
"protein_id": "XP_047281870.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 197,
"cds_start": 162,
"cds_end": null,
"cds_length": 594,
"cdna_start": 607,
"cdna_end": null,
"cdna_length": 1229,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATAD1",
"gene_hgnc_id": 25903,
"hgvs_c": "c.162G>C",
"hgvs_p": "p.Gln54His",
"transcript": "XM_047425915.1",
"protein_id": "XP_047281871.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 197,
"cds_start": 162,
"cds_end": null,
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"cdna_start": 350,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATAD1",
"gene_hgnc_id": 25903,
"hgvs_c": "n.162G>C",
"hgvs_p": null,
"transcript": "ENST00000680388.1",
"protein_id": "ENSP00000505894.1",
"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": 1485,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATAD1",
"gene_hgnc_id": 25903,
"hgvs_c": "n.162G>C",
"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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4045,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATAD1",
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"hgvs_c": "n.162G>C",
"hgvs_p": null,
"transcript": "ENST00000681602.1",
"protein_id": "ENSP00000505593.1",
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"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": 1510,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATAD1",
"gene_hgnc_id": 25903,
"hgvs_c": "n.162G>C",
"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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1378,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATAD1",
"gene_hgnc_id": 25903,
"hgvs_c": "n.235G>C",
"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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4421,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATAD1",
"gene_hgnc_id": 25903,
"hgvs_c": "c.-286G>C",
"hgvs_p": null,
"transcript": "NM_001321969.2",
"protein_id": "NP_001308898.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 242,
"cds_start": -4,
"cds_end": null,
"cds_length": 729,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4424,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ATAD1",
"gene_hgnc_id": 25903,
"dbsnp": "rs1554884979",
"frequency_reference_population": 7.0205e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 7.0205e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.30692166090011597,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.9959999918937683,
"splice_prediction_selected": "Pathogenic",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.478,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.3784,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.12,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.513,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.61,
"spliceai_max_prediction": "Pathogenic",
"dbscsnv_ada_score": 0.99999682219039,
"dbscsnv_ada_prediction": "Pathogenic",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 6,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong",
"acmg_by_gene": [
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000680024.1",
"gene_symbol": "ATAD1",
"hgnc_id": 25903,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.162G>C",
"hgvs_p": "p.Gln54His"
}
],
"clinvar_disease": "Hyperekplexia 4",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Hyperekplexia 4",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}