← Back to variant description
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: 9-70536170-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=70536170&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 70536170,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000677713.2",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPM3",
"gene_hgnc_id": 17992,
"hgvs_c": "c.4943A>G",
"hgvs_p": "p.Asn1648Ser",
"transcript": "NM_001366145.2",
"protein_id": "NP_001353074.1",
"transcript_support_level": null,
"aa_start": 1648,
"aa_end": null,
"aa_length": 1719,
"cds_start": 4943,
"cds_end": null,
"cds_length": 5160,
"cdna_start": 5210,
"cdna_end": null,
"cdna_length": 12320,
"mane_select": "ENST00000677713.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPM3",
"gene_hgnc_id": 17992,
"hgvs_c": "c.4943A>G",
"hgvs_p": "p.Asn1648Ser",
"transcript": "ENST00000677713.2",
"protein_id": "ENSP00000503830.2",
"transcript_support_level": null,
"aa_start": 1648,
"aa_end": null,
"aa_length": 1719,
"cds_start": 4943,
"cds_end": null,
"cds_length": 5160,
"cdna_start": 5210,
"cdna_end": null,
"cdna_length": 12320,
"mane_select": "NM_001366145.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPM3",
"gene_hgnc_id": 17992,
"hgvs_c": "c.4907A>G",
"hgvs_p": "p.Asn1636Ser",
"transcript": "ENST00000377110.9",
"protein_id": "ENSP00000366314.4",
"transcript_support_level": 1,
"aa_start": 1636,
"aa_end": null,
"aa_length": 1707,
"cds_start": 4907,
"cds_end": null,
"cds_length": 5124,
"cdna_start": 5151,
"cdna_end": null,
"cdna_length": 12258,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 25,
"intron_rank_end": null,
"gene_symbol": "TRPM3",
"gene_hgnc_id": 17992,
"hgvs_c": "c.3956-719A>G",
"hgvs_p": null,
"transcript": "ENST00000377111.8",
"protein_id": "ENSP00000366315.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1325,
"cds_start": -4,
"cds_end": null,
"cds_length": 3978,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4618,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPM3",
"gene_hgnc_id": 17992,
"hgvs_c": "c.5018A>G",
"hgvs_p": "p.Asn1673Ser",
"transcript": "NM_001366147.2",
"protein_id": "NP_001353076.1",
"transcript_support_level": null,
"aa_start": 1673,
"aa_end": null,
"aa_length": 1744,
"cds_start": 5018,
"cds_end": null,
"cds_length": 5235,
"cdna_start": 5285,
"cdna_end": null,
"cdna_length": 12395,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPM3",
"gene_hgnc_id": 17992,
"hgvs_c": "c.4919A>G",
"hgvs_p": "p.Asn1640Ser",
"transcript": "ENST00000357533.7",
"protein_id": "ENSP00000350140.2",
"transcript_support_level": 5,
"aa_start": 1640,
"aa_end": null,
"aa_length": 1711,
"cds_start": 4919,
"cds_end": null,
"cds_length": 5136,
"cdna_start": 5061,
"cdna_end": null,
"cdna_length": 5287,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPM3",
"gene_hgnc_id": 17992,
"hgvs_c": "c.4913A>G",
"hgvs_p": "p.Asn1638Ser",
"transcript": "NM_001366141.2",
"protein_id": "NP_001353070.1",
"transcript_support_level": null,
"aa_start": 1638,
"aa_end": null,
"aa_length": 1709,
"cds_start": 4913,
"cds_end": null,
"cds_length": 5130,
"cdna_start": 5049,
"cdna_end": null,
"cdna_length": 12159,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPM3",
"gene_hgnc_id": 17992,
"hgvs_c": "c.4913A>G",
"hgvs_p": "p.Asn1638Ser",
"transcript": "NM_001366149.2",
"protein_id": "NP_001353078.1",
"transcript_support_level": null,
"aa_start": 1638,
"aa_end": null,
"aa_length": 1709,
"cds_start": 4913,
"cds_end": null,
"cds_length": 5130,
"cdna_start": 5180,
"cdna_end": null,
"cdna_length": 12290,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPM3",
"gene_hgnc_id": 17992,
"hgvs_c": "c.4907A>G",
"hgvs_p": "p.Asn1636Ser",
"transcript": "NM_001007471.4",
"protein_id": "NP_001007472.2",
"transcript_support_level": null,
"aa_start": 1636,
"aa_end": null,
"aa_length": 1707,
"cds_start": 4907,
"cds_end": null,
"cds_length": 5124,
"cdna_start": 5174,
"cdna_end": null,
"cdna_length": 12284,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPM3",
"gene_hgnc_id": 17992,
"hgvs_c": "c.4841A>G",
"hgvs_p": "p.Asn1614Ser",
"transcript": "ENST00000707140.1",
"protein_id": "ENSP00000516762.1",
"transcript_support_level": null,
"aa_start": 1614,
"aa_end": null,
"aa_length": 1685,
"cds_start": 4841,
"cds_end": null,
"cds_length": 5058,
"cdna_start": 4841,
"cdna_end": null,
"cdna_length": 5928,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPM3",
"gene_hgnc_id": 17992,
"hgvs_c": "c.4523A>G",
"hgvs_p": "p.Asn1508Ser",
"transcript": "NM_206946.5",
"protein_id": "NP_996829.3",
"transcript_support_level": null,
"aa_start": 1508,
"aa_end": null,
"aa_length": 1579,
"cds_start": 4523,
"cds_end": null,
"cds_length": 4740,
"cdna_start": 4872,
"cdna_end": null,
"cdna_length": 11982,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPM3",
"gene_hgnc_id": 17992,
"hgvs_c": "c.4523A>G",
"hgvs_p": "p.Asn1508Ser",
"transcript": "ENST00000396292.8",
"protein_id": "ENSP00000379587.4",
"transcript_support_level": 5,
"aa_start": 1508,
"aa_end": null,
"aa_length": 1579,
"cds_start": 4523,
"cds_end": null,
"cds_length": 4740,
"cdna_start": 4523,
"cdna_end": null,
"cdna_length": 4740,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPM3",
"gene_hgnc_id": 17992,
"hgvs_c": "c.4493A>G",
"hgvs_p": "p.Asn1498Ser",
"transcript": "NM_206947.5",
"protein_id": "NP_996830.3",
"transcript_support_level": null,
"aa_start": 1498,
"aa_end": null,
"aa_length": 1569,
"cds_start": 4493,
"cds_end": null,
"cds_length": 4710,
"cdna_start": 4842,
"cdna_end": null,
"cdna_length": 11952,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPM3",
"gene_hgnc_id": 17992,
"hgvs_c": "c.4493A>G",
"hgvs_p": "p.Asn1498Ser",
"transcript": "ENST00000358082.7",
"protein_id": "ENSP00000350791.3",
"transcript_support_level": 5,
"aa_start": 1498,
"aa_end": null,
"aa_length": 1569,
"cds_start": 4493,
"cds_end": null,
"cds_length": 4710,
"cdna_start": 4493,
"cdna_end": null,
"cdna_length": 4710,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPM3",
"gene_hgnc_id": 17992,
"hgvs_c": "c.4493A>G",
"hgvs_p": "p.Asn1498Ser",
"transcript": "ENST00000360823.6",
"protein_id": "ENSP00000354066.2",
"transcript_support_level": 5,
"aa_start": 1498,
"aa_end": null,
"aa_length": 1569,
"cds_start": 4493,
"cds_end": null,
"cds_length": 4710,
"cdna_start": 4848,
"cdna_end": null,
"cdna_length": 5966,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPM3",
"gene_hgnc_id": 17992,
"hgvs_c": "c.4484A>G",
"hgvs_p": "p.Asn1495Ser",
"transcript": "NM_024971.7",
"protein_id": "NP_079247.5",
"transcript_support_level": null,
"aa_start": 1495,
"aa_end": null,
"aa_length": 1566,
"cds_start": 4484,
"cds_end": null,
"cds_length": 4701,
"cdna_start": 4833,
"cdna_end": null,
"cdna_length": 11943,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPM3",
"gene_hgnc_id": 17992,
"hgvs_c": "c.4484A>G",
"hgvs_p": "p.Asn1495Ser",
"transcript": "ENST00000377105.5",
"protein_id": "ENSP00000366309.1",
"transcript_support_level": 5,
"aa_start": 1495,
"aa_end": null,
"aa_length": 1566,
"cds_start": 4484,
"cds_end": null,
"cds_length": 4701,
"cdna_start": 4839,
"cdna_end": null,
"cdna_length": 5957,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPM3",
"gene_hgnc_id": 17992,
"hgvs_c": "c.4484A>G",
"hgvs_p": "p.Asn1495Ser",
"transcript": "ENST00000396285.5",
"protein_id": "ENSP00000379581.1",
"transcript_support_level": 5,
"aa_start": 1495,
"aa_end": null,
"aa_length": 1566,
"cds_start": 4484,
"cds_end": null,
"cds_length": 4701,
"cdna_start": 4484,
"cdna_end": null,
"cdna_length": 4701,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPM3",
"gene_hgnc_id": 17992,
"hgvs_c": "c.4484A>G",
"hgvs_p": "p.Asn1495Ser",
"transcript": "ENST00000408909.6",
"protein_id": "ENSP00000386127.2",
"transcript_support_level": 5,
"aa_start": 1495,
"aa_end": null,
"aa_length": 1566,
"cds_start": 4484,
"cds_end": null,
"cds_length": 4701,
"cdna_start": 4484,
"cdna_end": null,
"cdna_length": 4701,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPM3",
"gene_hgnc_id": 17992,
"hgvs_c": "c.4454A>G",
"hgvs_p": "p.Asn1485Ser",
"transcript": "NM_206945.5",
"protein_id": "NP_996828.3",
"transcript_support_level": null,
"aa_start": 1485,
"aa_end": null,
"aa_length": 1556,
"cds_start": 4454,
"cds_end": null,
"cds_length": 4671,
"cdna_start": 4803,
"cdna_end": null,
"cdna_length": 11913,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPM3",
"gene_hgnc_id": 17992,
"hgvs_c": "c.4454A>G",
"hgvs_p": "p.Asn1485Ser",
"transcript": "ENST00000396280.9",
"protein_id": "ENSP00000379576.5",
"transcript_support_level": 5,
"aa_start": 1485,
"aa_end": null,
"aa_length": 1556,
"cds_start": 4454,
"cds_end": null,
"cds_length": 4671,
"cdna_start": 4454,
"cdna_end": null,
"cdna_length": 4671,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPM3",
"gene_hgnc_id": 17992,
"hgvs_c": "c.4448A>G",
"hgvs_p": "p.Asn1483Ser",
"transcript": "NM_020952.6",
"protein_id": "NP_066003.3",
"transcript_support_level": null,
"aa_start": 1483,
"aa_end": null,
"aa_length": 1554,
"cds_start": 4448,
"cds_end": null,
"cds_length": 4665,
"cdna_start": 4797,
"cdna_end": null,
"cdna_length": 11907,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPM3",
"gene_hgnc_id": 17992,
"hgvs_c": "c.4418A>G",
"hgvs_p": "p.Asn1473Ser",
"transcript": "NM_206944.5",
"protein_id": "NP_996827.3",
"transcript_support_level": null,
"aa_start": 1473,
"aa_end": null,
"aa_length": 1544,
"cds_start": 4418,
"cds_end": null,
"cds_length": 4635,
"cdna_start": 4767,
"cdna_end": null,
"cdna_length": 11877,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPM3",
"gene_hgnc_id": 17992,
"hgvs_c": "n.*3936A>G",
"hgvs_p": null,
"transcript": "ENST00000715550.1",
"protein_id": "ENSP00000520470.1",
"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": 4864,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPM3",
"gene_hgnc_id": 17992,
"hgvs_c": "c.*706A>G",
"hgvs_p": null,
"transcript": "ENST00000704573.1",
"protein_id": "ENSP00000515949.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1171,
"cds_start": -4,
"cds_end": null,
"cds_length": 3516,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5593,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPM3",
"gene_hgnc_id": 17992,
"hgvs_c": "n.*3936A>G",
"hgvs_p": null,
"transcript": "ENST00000715550.1",
"protein_id": "ENSP00000520470.1",
"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": 4864,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 26,
"intron_rank_end": null,
"gene_symbol": "TRPM3",
"gene_hgnc_id": 17992,
"hgvs_c": "c.4079-719A>G",
"hgvs_p": null,
"transcript": "ENST00000704568.1",
"protein_id": "ENSP00000515945.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1366,
"cds_start": -4,
"cds_end": null,
"cds_length": 4101,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4590,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 27,
"intron_rank_end": null,
"gene_symbol": "TRPM3",
"gene_hgnc_id": 17992,
"hgvs_c": "c.4067-719A>G",
"hgvs_p": null,
"transcript": "NM_001366152.2",
"protein_id": "NP_001353081.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1362,
"cds_start": -4,
"cds_end": null,
"cds_length": 4089,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10725,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 26,
"intron_rank_end": null,
"gene_symbol": "TRPM3",
"gene_hgnc_id": 17992,
"hgvs_c": "c.4037-719A>G",
"hgvs_p": null,
"transcript": "NM_001366148.2",
"protein_id": "NP_001353077.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1352,
"cds_start": -4,
"cds_end": null,
"cds_length": 4059,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10695,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 26,
"intron_rank_end": null,
"gene_symbol": "TRPM3",
"gene_hgnc_id": 17992,
"hgvs_c": "c.3998-719A>G",
"hgvs_p": null,
"transcript": "NM_001366142.2",
"protein_id": "NP_001353071.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1339,
"cds_start": -4,
"cds_end": null,
"cds_length": 4020,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10525,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 26,
"intron_rank_end": null,
"gene_symbol": "TRPM3",
"gene_hgnc_id": 17992,
"hgvs_c": "c.3992-719A>G",
"hgvs_p": null,
"transcript": "NM_001366146.2",
"protein_id": "NP_001353075.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1337,
"cds_start": -4,
"cds_end": null,
"cds_length": 4014,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10650,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 25,
"intron_rank_end": null,
"gene_symbol": "TRPM3",
"gene_hgnc_id": 17992,
"hgvs_c": "c.3962-719A>G",
"hgvs_p": null,
"transcript": "NM_001366143.2",
"protein_id": "NP_001353072.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1327,
"cds_start": -4,
"cds_end": null,
"cds_length": 3984,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10489,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 25,
"intron_rank_end": null,
"gene_symbol": "TRPM3",
"gene_hgnc_id": 17992,
"hgvs_c": "c.3956-719A>G",
"hgvs_p": null,
"transcript": "NM_001366151.2",
"protein_id": "NP_001353080.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1325,
"cds_start": -4,
"cds_end": null,
"cds_length": 3978,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10614,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": 24,
"intron_rank_end": null,
"gene_symbol": "TRPM3",
"gene_hgnc_id": 17992,
"hgvs_c": "c.3926-719A>G",
"hgvs_p": null,
"transcript": "NM_001366150.2",
"protein_id": "NP_001353079.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1315,
"cds_start": -4,
"cds_end": null,
"cds_length": 3948,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10584,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 25,
"intron_rank_end": null,
"gene_symbol": "TRPM3",
"gene_hgnc_id": 17992,
"hgvs_c": "c.3620-719A>G",
"hgvs_p": null,
"transcript": "ENST00000704566.1",
"protein_id": "ENSP00000515943.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1213,
"cds_start": -4,
"cds_end": null,
"cds_length": 3642,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4289,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 26,
"intron_rank_end": null,
"gene_symbol": "TRPM3",
"gene_hgnc_id": 17992,
"hgvs_c": "c.3533-719A>G",
"hgvs_p": null,
"transcript": "NM_001366154.2",
"protein_id": "NP_001353083.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1184,
"cds_start": -4,
"cds_end": null,
"cds_length": 3555,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10273,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 26,
"intron_rank_end": null,
"gene_symbol": "TRPM3",
"gene_hgnc_id": 17992,
"hgvs_c": "c.3533-719A>G",
"hgvs_p": null,
"transcript": "ENST00000677594.1",
"protein_id": "ENSP00000504011.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1184,
"cds_start": -4,
"cds_end": null,
"cds_length": 3555,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4286,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 26,
"intron_rank_end": null,
"gene_symbol": "TRPM3",
"gene_hgnc_id": 17992,
"hgvs_c": "c.3497-719A>G",
"hgvs_p": null,
"transcript": "ENST00000704567.1",
"protein_id": "ENSP00000515944.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1172,
"cds_start": -4,
"cds_end": null,
"cds_length": 3519,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4413,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "TRPM3",
"gene_hgnc_id": 17992,
"hgvs_c": "n.*2944-719A>G",
"hgvs_p": null,
"transcript": "ENST00000704565.1",
"protein_id": "ENSP00000515942.1",
"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": 10256,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ENSG00000308298",
"gene_hgnc_id": null,
"hgvs_c": "n.520+73315T>C",
"hgvs_p": null,
"transcript": "ENST00000833041.1",
"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": 1329,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ENSG00000308298",
"gene_hgnc_id": null,
"hgvs_c": "n.344+73315T>C",
"hgvs_p": null,
"transcript": "ENST00000833042.1",
"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": 1156,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ENSG00000308298",
"gene_hgnc_id": null,
"hgvs_c": "n.389-65837T>C",
"hgvs_p": null,
"transcript": "ENST00000833043.1",
"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": 867,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ENSG00000308298",
"gene_hgnc_id": null,
"hgvs_c": "n.352-65837T>C",
"hgvs_p": null,
"transcript": "ENST00000833044.1",
"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": 383,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ENSG00000308298",
"gene_hgnc_id": null,
"hgvs_c": "n.423-14109T>C",
"hgvs_p": null,
"transcript": "ENST00000833045.1",
"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": 635,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ENSG00000308298",
"gene_hgnc_id": null,
"hgvs_c": "n.462-14109T>C",
"hgvs_p": null,
"transcript": "ENST00000833046.1",
"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": 679,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ENSG00000308298",
"gene_hgnc_id": null,
"hgvs_c": "n.474-14109T>C",
"hgvs_p": null,
"transcript": "ENST00000833047.1",
"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": 691,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ENSG00000308298",
"gene_hgnc_id": null,
"hgvs_c": "n.439-14109T>C",
"hgvs_p": null,
"transcript": "ENST00000833048.1",
"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": 652,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ENSG00000308298",
"gene_hgnc_id": null,
"hgvs_c": "n.417-14109T>C",
"hgvs_p": null,
"transcript": "ENST00000833049.1",
"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": 629,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ENSG00000308298",
"gene_hgnc_id": null,
"hgvs_c": "n.660-14109T>C",
"hgvs_p": null,
"transcript": "ENST00000833050.1",
"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": 873,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ENSG00000308298",
"gene_hgnc_id": null,
"hgvs_c": "n.234-14109T>C",
"hgvs_p": null,
"transcript": "ENST00000833051.1",
"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": 448,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ENSG00000308298",
"gene_hgnc_id": null,
"hgvs_c": "n.353-14109T>C",
"hgvs_p": null,
"transcript": "ENST00000833052.1",
"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": 567,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000308298",
"gene_hgnc_id": null,
"hgvs_c": "n.590-14109T>C",
"hgvs_p": null,
"transcript": "ENST00000833058.1",
"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": 804,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000308298",
"gene_hgnc_id": null,
"hgvs_c": "n.322-14109T>C",
"hgvs_p": null,
"transcript": "ENST00000833065.1",
"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": 539,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "KLF9-DT",
"gene_hgnc_id": 54815,
"hgvs_c": "n.467-14109T>C",
"hgvs_p": null,
"transcript": "XR_001746707.3",
"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": 681,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "KLF9-DT",
"gene_hgnc_id": 54815,
"hgvs_c": "n.390-14109T>C",
"hgvs_p": null,
"transcript": "XR_001746710.3",
"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": 604,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "TRPM3",
"gene_hgnc_id": 17992,
"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": 0.13896971940994263,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.078,
"revel_prediction": "Benign",
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.48,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.771,
"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": "ENST00000677713.2",
"gene_symbol": "TRPM3",
"hgnc_id": 17992,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,Unknown",
"hgvs_c": "c.4943A>G",
"hgvs_p": "p.Asn1648Ser"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000833041.1",
"gene_symbol": "ENSG00000308298",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.520+73315T>C",
"hgvs_p": null
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "XR_001746707.3",
"gene_symbol": "KLF9-DT",
"hgnc_id": 54815,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.467-14109T>C",
"hgvs_p": null
}
],
"clinvar_disease": "Inborn genetic diseases",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}