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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: 1-184054395-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=184054395&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 184054395,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000645668.2",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSEN15",
"gene_hgnc_id": 16791,
"hgvs_c": "c.177A>C",
"hgvs_p": "p.Gln59His",
"transcript": "NM_052965.4",
"protein_id": "NP_443197.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 171,
"cds_start": 177,
"cds_end": null,
"cds_length": 516,
"cdna_start": 203,
"cdna_end": null,
"cdna_length": 1907,
"mane_select": "ENST00000645668.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSEN15",
"gene_hgnc_id": 16791,
"hgvs_c": "c.177A>C",
"hgvs_p": "p.Gln59His",
"transcript": "ENST00000645668.2",
"protein_id": "ENSP00000493902.2",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 171,
"cds_start": 177,
"cds_end": null,
"cds_length": 516,
"cdna_start": 203,
"cdna_end": null,
"cdna_length": 1907,
"mane_select": "NM_052965.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSEN15",
"gene_hgnc_id": 16791,
"hgvs_c": "c.177A>C",
"hgvs_p": "p.Gln59His",
"transcript": "ENST00000361641.6",
"protein_id": "ENSP00000355299.2",
"transcript_support_level": 1,
"aa_start": 59,
"aa_end": null,
"aa_length": 175,
"cds_start": 177,
"cds_end": null,
"cds_length": 528,
"cdna_start": 257,
"cdna_end": null,
"cdna_length": 1967,
"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": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSEN15",
"gene_hgnc_id": 16791,
"hgvs_c": "n.177A>C",
"hgvs_p": null,
"transcript": "ENST00000462677.3",
"protein_id": "ENSP00000432397.2",
"transcript_support_level": 1,
"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": 1632,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSEN15",
"gene_hgnc_id": 16791,
"hgvs_c": "c.177A>C",
"hgvs_p": "p.Gln59His",
"transcript": "ENST00000645963.2",
"protein_id": "ENSP00000495409.2",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 196,
"cds_start": 177,
"cds_end": null,
"cds_length": 591,
"cdna_start": 177,
"cdna_end": null,
"cdna_length": 609,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSEN15",
"gene_hgnc_id": 16791,
"hgvs_c": "c.177A>C",
"hgvs_p": "p.Gln59His",
"transcript": "ENST00000647437.1",
"protein_id": "ENSP00000495178.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 183,
"cds_start": 177,
"cds_end": null,
"cds_length": 552,
"cdna_start": 221,
"cdna_end": null,
"cdna_length": 2368,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSEN15",
"gene_hgnc_id": 16791,
"hgvs_c": "c.177A>C",
"hgvs_p": "p.Gln59His",
"transcript": "NM_001300764.2",
"protein_id": "NP_001287693.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 175,
"cds_start": 177,
"cds_end": null,
"cds_length": 528,
"cdna_start": 203,
"cdna_end": null,
"cdna_length": 1919,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSEN15",
"gene_hgnc_id": 16791,
"hgvs_c": "c.177A>C",
"hgvs_p": "p.Gln59His",
"transcript": "NM_001363643.2",
"protein_id": "NP_001350572.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 155,
"cds_start": 177,
"cds_end": null,
"cds_length": 468,
"cdna_start": 203,
"cdna_end": null,
"cdna_length": 2175,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSEN15",
"gene_hgnc_id": 16791,
"hgvs_c": "c.177A>C",
"hgvs_p": "p.Gln59His",
"transcript": "ENST00000643231.1",
"protein_id": "ENSP00000494932.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 155,
"cds_start": 177,
"cds_end": null,
"cds_length": 468,
"cdna_start": 247,
"cdna_end": null,
"cdna_length": 2219,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSEN15",
"gene_hgnc_id": 16791,
"hgvs_c": "c.177A>C",
"hgvs_p": "p.Gln59His",
"transcript": "NM_001300766.2",
"protein_id": "NP_001287695.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 134,
"cds_start": 177,
"cds_end": null,
"cds_length": 405,
"cdna_start": 203,
"cdna_end": null,
"cdna_length": 1803,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSEN15",
"gene_hgnc_id": 16791,
"hgvs_c": "c.177A>C",
"hgvs_p": "p.Gln59His",
"transcript": "ENST00000533373.6",
"protein_id": "ENSP00000436996.1",
"transcript_support_level": 2,
"aa_start": 59,
"aa_end": null,
"aa_length": 134,
"cds_start": 177,
"cds_end": null,
"cds_length": 405,
"cdna_start": 234,
"cdna_end": null,
"cdna_length": 1834,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSEN15",
"gene_hgnc_id": 16791,
"hgvs_c": "c.177A>C",
"hgvs_p": "p.Gln59His",
"transcript": "ENST00000647465.1",
"protein_id": "ENSP00000495344.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 130,
"cds_start": 177,
"cds_end": null,
"cds_length": 393,
"cdna_start": 215,
"cdna_end": null,
"cdna_length": 609,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSEN15",
"gene_hgnc_id": 16791,
"hgvs_c": "c.177A>C",
"hgvs_p": "p.Gln59His",
"transcript": "NM_001127394.4",
"protein_id": "NP_001120866.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 129,
"cds_start": 177,
"cds_end": null,
"cds_length": 390,
"cdna_start": 203,
"cdna_end": null,
"cdna_length": 1765,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSEN15",
"gene_hgnc_id": 16791,
"hgvs_c": "c.177A>C",
"hgvs_p": "p.Gln59His",
"transcript": "ENST00000423085.7",
"protein_id": "ENSP00000402002.2",
"transcript_support_level": 2,
"aa_start": 59,
"aa_end": null,
"aa_length": 129,
"cds_start": 177,
"cds_end": null,
"cds_length": 390,
"cdna_start": 282,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSEN15",
"gene_hgnc_id": 16791,
"hgvs_c": "c.66A>C",
"hgvs_p": "p.Gln22His",
"transcript": "ENST00000644815.1",
"protein_id": "ENSP00000495107.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 125,
"cds_start": 66,
"cds_end": null,
"cds_length": 378,
"cdna_start": 68,
"cdna_end": null,
"cdna_length": 2237,
"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": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSEN15",
"gene_hgnc_id": 16791,
"hgvs_c": "n.215A>C",
"hgvs_p": null,
"transcript": "ENST00000367518.4",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSEN15",
"gene_hgnc_id": 16791,
"hgvs_c": "n.35A>C",
"hgvs_p": null,
"transcript": "ENST00000457455.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSEN15",
"gene_hgnc_id": 16791,
"hgvs_c": "n.177A>C",
"hgvs_p": null,
"transcript": "ENST00000485209.6",
"protein_id": "ENSP00000435144.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": 812,
"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": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSEN15",
"gene_hgnc_id": 16791,
"hgvs_c": "n.138A>C",
"hgvs_p": null,
"transcript": "ENST00000643702.1",
"protein_id": "ENSP00000494978.1",
"transcript_support_level": null,
"aa_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSEN15",
"gene_hgnc_id": 16791,
"hgvs_c": "n.*29A>C",
"hgvs_p": null,
"transcript": "ENST00000644145.1",
"protein_id": "ENSP00000494455.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSEN15",
"gene_hgnc_id": 16791,
"hgvs_c": "n.177A>C",
"hgvs_p": null,
"transcript": "ENST00000644479.1",
"protein_id": "ENSP00000496242.1",
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"mane_select": null,
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"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": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSEN15",
"gene_hgnc_id": 16791,
"hgvs_c": "n.177A>C",
"hgvs_p": null,
"transcript": "ENST00000644592.1",
"protein_id": "ENSP00000495621.1",
"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": 1521,
"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": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSEN15",
"gene_hgnc_id": 16791,
"hgvs_c": "n.177A>C",
"hgvs_p": null,
"transcript": "ENST00000646297.2",
"protein_id": "ENSP00000496688.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cds_length": null,
"cdna_start": null,
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"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
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"gene_symbol": "TSEN15",
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"hgvs_c": "n.203A>C",
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"transcript": "NR_023349.3",
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"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cds_length": null,
"cdna_start": null,
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"cdna_length": 2024,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
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"exon_count": 6,
"intron_rank": null,
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"gene_symbol": "TSEN15",
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"hgvs_c": "n.203A>C",
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"transcript": "NR_125335.2",
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"aa_length": null,
"cds_start": -4,
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"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 2,
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"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSEN15",
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"hgvs_c": "n.*29A>C",
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"transcript": "ENST00000644145.1",
"protein_id": "ENSP00000494455.1",
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"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 1639,
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"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
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"gene_symbol": "TSEN15",
"gene_hgnc_id": 16791,
"hgvs_c": "n.136-333A>C",
"hgvs_p": null,
"transcript": "ENST00000643916.1",
"protein_id": "ENSP00000494533.1",
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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": 730,
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"biotype": null,
"feature": null
}
],
"gene_symbol": "TSEN15",
"gene_hgnc_id": 16791,
"dbsnp": "rs1046934",
"frequency_reference_population": 0.33549544,
"hom_count_reference_population": 93647,
"allele_count_reference_population": 537975,
"gnomad_exomes_af": 0.340354,
"gnomad_genomes_af": 0.289101,
"gnomad_exomes_ac": 494027,
"gnomad_genomes_ac": 43948,
"gnomad_exomes_homalt": 86655,
"gnomad_genomes_homalt": 6992,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0030647218227386475,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.094,
"revel_prediction": "Benign",
"alphamissense_score": 0.2395,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.3,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.782,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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,BA1",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000645668.2",
"gene_symbol": "TSEN15",
"hgnc_id": 16791,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.177A>C",
"hgvs_p": "p.Gln59His"
}
],
"clinvar_disease": "not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"phenotype_combined": "not specified|not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}