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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: 22-19963713-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=19963713&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 19963713,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000361682.11",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COMT",
"gene_hgnc_id": 2228,
"hgvs_c": "c.437C>G",
"hgvs_p": "p.Ala146Gly",
"transcript": "NM_000754.4",
"protein_id": "NP_000745.1",
"transcript_support_level": null,
"aa_start": 146,
"aa_end": null,
"aa_length": 271,
"cds_start": 437,
"cds_end": null,
"cds_length": 816,
"cdna_start": 654,
"cdna_end": null,
"cdna_length": 2272,
"mane_select": "ENST00000361682.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COMT",
"gene_hgnc_id": 2228,
"hgvs_c": "c.437C>G",
"hgvs_p": "p.Ala146Gly",
"transcript": "ENST00000361682.11",
"protein_id": "ENSP00000354511.6",
"transcript_support_level": 1,
"aa_start": 146,
"aa_end": null,
"aa_length": 271,
"cds_start": 437,
"cds_end": null,
"cds_length": 816,
"cdna_start": 654,
"cdna_end": null,
"cdna_length": 2272,
"mane_select": "NM_000754.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COMT",
"gene_hgnc_id": 2228,
"hgvs_c": "c.437C>G",
"hgvs_p": "p.Ala146Gly",
"transcript": "ENST00000406520.7",
"protein_id": "ENSP00000385150.3",
"transcript_support_level": 1,
"aa_start": 146,
"aa_end": null,
"aa_length": 271,
"cds_start": 437,
"cds_end": null,
"cds_length": 816,
"cdna_start": 680,
"cdna_end": null,
"cdna_length": 1339,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"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": "COMT",
"gene_hgnc_id": 2228,
"hgvs_c": "c.287C>G",
"hgvs_p": "p.Ala96Gly",
"transcript": "ENST00000449653.5",
"protein_id": "ENSP00000416778.1",
"transcript_support_level": 1,
"aa_start": 96,
"aa_end": null,
"aa_length": 221,
"cds_start": 287,
"cds_end": null,
"cds_length": 666,
"cdna_start": 394,
"cdna_end": null,
"cdna_length": 1035,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COMT",
"gene_hgnc_id": 2228,
"hgvs_c": "c.437C>G",
"hgvs_p": "p.Ala146Gly",
"transcript": "ENST00000678769.1",
"protein_id": "ENSP00000503289.1",
"transcript_support_level": null,
"aa_start": 146,
"aa_end": null,
"aa_length": 302,
"cds_start": 437,
"cds_end": null,
"cds_length": 909,
"cdna_start": 592,
"cdna_end": null,
"cdna_length": 2202,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COMT",
"gene_hgnc_id": 2228,
"hgvs_c": "c.437C>G",
"hgvs_p": "p.Ala146Gly",
"transcript": "ENST00000428707.2",
"protein_id": "ENSP00000387695.2",
"transcript_support_level": 3,
"aa_start": 146,
"aa_end": null,
"aa_length": 292,
"cds_start": 437,
"cds_end": null,
"cds_length": 879,
"cdna_start": 555,
"cdna_end": null,
"cdna_length": 2492,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COMT",
"gene_hgnc_id": 2228,
"hgvs_c": "c.437C>G",
"hgvs_p": "p.Ala146Gly",
"transcript": "NM_001135161.2",
"protein_id": "NP_001128633.1",
"transcript_support_level": null,
"aa_start": 146,
"aa_end": null,
"aa_length": 271,
"cds_start": 437,
"cds_end": null,
"cds_length": 816,
"cdna_start": 679,
"cdna_end": null,
"cdna_length": 2297,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COMT",
"gene_hgnc_id": 2228,
"hgvs_c": "c.437C>G",
"hgvs_p": "p.Ala146Gly",
"transcript": "NM_001135162.2",
"protein_id": "NP_001128634.1",
"transcript_support_level": null,
"aa_start": 146,
"aa_end": null,
"aa_length": 271,
"cds_start": 437,
"cds_end": null,
"cds_length": 816,
"cdna_start": 665,
"cdna_end": null,
"cdna_length": 2283,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COMT",
"gene_hgnc_id": 2228,
"hgvs_c": "c.437C>G",
"hgvs_p": "p.Ala146Gly",
"transcript": "NM_001362828.2",
"protein_id": "NP_001349757.1",
"transcript_support_level": null,
"aa_start": 146,
"aa_end": null,
"aa_length": 271,
"cds_start": 437,
"cds_end": null,
"cds_length": 816,
"cdna_start": 948,
"cdna_end": null,
"cdna_length": 2566,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COMT",
"gene_hgnc_id": 2228,
"hgvs_c": "c.437C>G",
"hgvs_p": "p.Ala146Gly",
"transcript": "ENST00000403710.5",
"protein_id": "ENSP00000385917.1",
"transcript_support_level": 5,
"aa_start": 146,
"aa_end": null,
"aa_length": 271,
"cds_start": 437,
"cds_end": null,
"cds_length": 816,
"cdna_start": 947,
"cdna_end": null,
"cdna_length": 1548,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COMT",
"gene_hgnc_id": 2228,
"hgvs_c": "c.437C>G",
"hgvs_p": "p.Ala146Gly",
"transcript": "ENST00000407537.5",
"protein_id": "ENSP00000384654.2",
"transcript_support_level": 5,
"aa_start": 146,
"aa_end": null,
"aa_length": 271,
"cds_start": 437,
"cds_end": null,
"cds_length": 816,
"cdna_start": 816,
"cdna_end": null,
"cdna_length": 1457,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COMT",
"gene_hgnc_id": 2228,
"hgvs_c": "c.437C>G",
"hgvs_p": "p.Ala146Gly",
"transcript": "ENST00000676678.1",
"protein_id": "ENSP00000503719.1",
"transcript_support_level": null,
"aa_start": 146,
"aa_end": null,
"aa_length": 271,
"cds_start": 437,
"cds_end": null,
"cds_length": 816,
"cdna_start": 733,
"cdna_end": null,
"cdna_length": 1405,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COMT",
"gene_hgnc_id": 2228,
"hgvs_c": "c.437C>G",
"hgvs_p": "p.Ala146Gly",
"transcript": "ENST00000678255.1",
"protein_id": "ENSP00000504402.1",
"transcript_support_level": null,
"aa_start": 146,
"aa_end": null,
"aa_length": 271,
"cds_start": 437,
"cds_end": null,
"cds_length": 816,
"cdna_start": 1521,
"cdna_end": null,
"cdna_length": 3119,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COMT",
"gene_hgnc_id": 2228,
"hgvs_c": "c.437C>G",
"hgvs_p": "p.Ala146Gly",
"transcript": "ENST00000678868.1",
"protein_id": "ENSP00000503583.1",
"transcript_support_level": null,
"aa_start": 146,
"aa_end": null,
"aa_length": 271,
"cds_start": 437,
"cds_end": null,
"cds_length": 816,
"cdna_start": 807,
"cdna_end": null,
"cdna_length": 2405,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COMT",
"gene_hgnc_id": 2228,
"hgvs_c": "c.437C>G",
"hgvs_p": "p.Ala146Gly",
"transcript": "ENST00000403184.5",
"protein_id": "ENSP00000383966.1",
"transcript_support_level": 2,
"aa_start": 146,
"aa_end": null,
"aa_length": 235,
"cds_start": 437,
"cds_end": null,
"cds_length": 708,
"cdna_start": 693,
"cdna_end": null,
"cdna_length": 2217,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COMT",
"gene_hgnc_id": 2228,
"hgvs_c": "c.437C>G",
"hgvs_p": "p.Ala146Gly",
"transcript": "ENST00000412786.5",
"protein_id": "ENSP00000403958.1",
"transcript_support_level": 2,
"aa_start": 146,
"aa_end": null,
"aa_length": 222,
"cds_start": 437,
"cds_end": null,
"cds_length": 669,
"cdna_start": 639,
"cdna_end": null,
"cdna_length": 871,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"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": "COMT",
"gene_hgnc_id": 2228,
"hgvs_c": "c.287C>G",
"hgvs_p": "p.Ala96Gly",
"transcript": "NM_007310.3",
"protein_id": "NP_009294.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 221,
"cds_start": 287,
"cds_end": null,
"cds_length": 666,
"cdna_start": 411,
"cdna_end": null,
"cdna_length": 2029,
"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": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COMT",
"gene_hgnc_id": 2228,
"hgvs_c": "n.437C>G",
"hgvs_p": null,
"transcript": "ENST00000207636.9",
"protein_id": "ENSP00000207636.5",
"transcript_support_level": 5,
"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": 1319,
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COMT",
"gene_hgnc_id": 2228,
"hgvs_c": "n.175C>G",
"hgvs_p": null,
"transcript": "ENST00000493893.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 354,
"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": "COMT",
"gene_hgnc_id": 2228,
"hgvs_c": "n.287C>G",
"hgvs_p": null,
"transcript": "ENST00000677397.1",
"protein_id": "ENSP00000503422.1",
"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": 1363,
"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": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COMT",
"gene_hgnc_id": 2228,
"hgvs_c": "n.220C>G",
"hgvs_p": null,
"transcript": "ENST00000677564.1",
"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": 1818,
"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": "COMT",
"gene_hgnc_id": 2228,
"hgvs_c": "n.237C>G",
"hgvs_p": null,
"transcript": "ENST00000677675.1",
"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": 909,
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COMT",
"gene_hgnc_id": 2228,
"hgvs_c": "n.285C>G",
"hgvs_p": null,
"transcript": "ENST00000678240.1",
"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,
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"mane_select": null,
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},
{
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},
{
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"strand": true,
"consequences": [
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],
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"exon_count": 1,
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},
{
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"protein_coding": false,
"strand": true,
"consequences": [
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],
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"exon_count": 2,
"intron_rank": null,
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"gene_symbol": "COMT",
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"cdna_length": 959,
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},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 1,
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"gene_symbol": "MIR4761",
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"transcript": "NR_039918.1",
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},
{
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"protein_coding": false,
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],
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"exon_count": 1,
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"gene_symbol": "MIR4761",
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"transcript": "unassigned_transcript_3538",
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},
{
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"upstream_gene_variant"
],
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"gene_symbol": "MIR4761",
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"hgvs_c": "n.-101C>G",
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"transcript": "unassigned_transcript_3539",
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"cdna_length": 21,
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"feature": null
}
],
"gene_symbol": "COMT",
"gene_hgnc_id": 2228,
"dbsnp": "rs4986871",
"frequency_reference_population": 0.0000013693602,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000136936,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7753828763961792,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.421,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1778,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.06,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 4.417,
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000361682.11",
"gene_symbol": "COMT",
"hgnc_id": 2228,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.437C>G",
"hgvs_p": "p.Ala146Gly"
},
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NR_039918.1",
"gene_symbol": "MIR4761",
"hgnc_id": 41591,
"effects": [
"upstream_gene_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.-40C>G",
"hgvs_p": null
}
],
"clinvar_disease": "Panic disorder 1,Schizophrenia",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Panic disorder 1;Schizophrenia",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}