← 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: 9-70826521-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=70826521&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 70826521,
"ref": "A",
"alt": "C",
"effect": "intron_variant",
"transcript": "NM_001366147.2",
"consequences": [
{
"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": 6,
"intron_rank_end": null,
"gene_symbol": "TRPM3",
"gene_hgnc_id": 17992,
"hgvs_c": "c.973+1326T>G",
"hgvs_p": null,
"transcript": "NM_001366145.2",
"protein_id": "NP_001353074.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1719,
"cds_start": null,
"cds_end": null,
"cds_length": 5160,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000677713.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366145.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "TRPM3",
"gene_hgnc_id": 17992,
"hgvs_c": "c.973+1326T>G",
"hgvs_p": null,
"transcript": "ENST00000677713.2",
"protein_id": "ENSP00000503830.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1719,
"cds_start": null,
"cds_end": null,
"cds_length": 5160,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001366145.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000677713.2"
},
{
"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": 6,
"intron_rank_end": null,
"gene_symbol": "TRPM3",
"gene_hgnc_id": 17992,
"hgvs_c": "c.973+1326T>G",
"hgvs_p": null,
"transcript": "ENST00000377110.9",
"protein_id": "ENSP00000366314.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1707,
"cds_start": null,
"cds_end": null,
"cds_length": 5124,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000377110.9"
},
{
"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": 6,
"intron_rank_end": null,
"gene_symbol": "TRPM3",
"gene_hgnc_id": 17992,
"hgvs_c": "c.973+1326T>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": null,
"cds_end": null,
"cds_length": 3978,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000377111.8"
},
{
"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": 8,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "TRPM3",
"gene_hgnc_id": 17992,
"hgvs_c": "c.514+1326T>G",
"hgvs_p": null,
"transcript": "ENST00000377101.5",
"protein_id": "ENSP00000366305.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 323,
"cds_start": null,
"cds_end": null,
"cds_length": 972,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000377101.5"
},
{
"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": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "TRPM3",
"gene_hgnc_id": 17992,
"hgvs_c": "c.514+1326T>G",
"hgvs_p": null,
"transcript": "ENST00000361823.9",
"protein_id": "ENSP00000355395.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 230,
"cds_start": null,
"cds_end": null,
"cds_length": 693,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000361823.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPM3",
"gene_hgnc_id": 17992,
"hgvs_c": "n.2374T>G",
"hgvs_p": null,
"transcript": "ENST00000354500.6",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000354500.6"
},
{
"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": 6,
"intron_rank_end": null,
"gene_symbol": "TRPM3",
"gene_hgnc_id": 17992,
"hgvs_c": "c.973+1326T>G",
"hgvs_p": null,
"transcript": "NM_001366147.2",
"protein_id": "NP_001353076.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1744,
"cds_start": null,
"cds_end": null,
"cds_length": 5235,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366147.2"
},
{
"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": 6,
"intron_rank_end": null,
"gene_symbol": "TRPM3",
"gene_hgnc_id": 17992,
"hgvs_c": "c.979+1326T>G",
"hgvs_p": null,
"transcript": "ENST00000357533.7",
"protein_id": "ENSP00000350140.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1711,
"cds_start": null,
"cds_end": null,
"cds_length": 5136,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000357533.7"
},
{
"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": 6,
"intron_rank_end": null,
"gene_symbol": "TRPM3",
"gene_hgnc_id": 17992,
"hgvs_c": "c.979+1326T>G",
"hgvs_p": null,
"transcript": "NM_001366141.2",
"protein_id": "NP_001353070.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1709,
"cds_start": null,
"cds_end": null,
"cds_length": 5130,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366141.2"
},
{
"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": 6,
"intron_rank_end": null,
"gene_symbol": "TRPM3",
"gene_hgnc_id": 17992,
"hgvs_c": "c.973+1326T>G",
"hgvs_p": null,
"transcript": "NM_001366149.2",
"protein_id": "NP_001353078.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1709,
"cds_start": null,
"cds_end": null,
"cds_length": 5130,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366149.2"
},
{
"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": 6,
"intron_rank_end": null,
"gene_symbol": "TRPM3",
"gene_hgnc_id": 17992,
"hgvs_c": "c.973+1326T>G",
"hgvs_p": null,
"transcript": "NM_001007471.4",
"protein_id": "NP_001007472.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1707,
"cds_start": null,
"cds_end": null,
"cds_length": 5124,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001007471.4"
},
{
"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": 5,
"intron_rank_end": null,
"gene_symbol": "TRPM3",
"gene_hgnc_id": 17992,
"hgvs_c": "c.796+1326T>G",
"hgvs_p": null,
"transcript": "ENST00000707140.1",
"protein_id": "ENSP00000516762.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1685,
"cds_start": null,
"cds_end": null,
"cds_length": 5058,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000707140.1"
},
{
"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": 6,
"intron_rank_end": null,
"gene_symbol": "TRPM3",
"gene_hgnc_id": 17992,
"hgvs_c": "c.514+1326T>G",
"hgvs_p": null,
"transcript": "NM_206946.5",
"protein_id": "NP_996829.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1579,
"cds_start": null,
"cds_end": null,
"cds_length": 4740,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_206946.5"
},
{
"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": 24,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "TRPM3",
"gene_hgnc_id": 17992,
"hgvs_c": "c.514+1326T>G",
"hgvs_p": null,
"transcript": "ENST00000396292.8",
"protein_id": "ENSP00000379587.4",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1579,
"cds_start": null,
"cds_end": null,
"cds_length": 4740,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000396292.8"
},
{
"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": 6,
"intron_rank_end": null,
"gene_symbol": "TRPM3",
"gene_hgnc_id": 17992,
"hgvs_c": "c.514+1326T>G",
"hgvs_p": null,
"transcript": "NM_206947.5",
"protein_id": "NP_996830.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1569,
"cds_start": null,
"cds_end": null,
"cds_length": 4710,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_206947.5"
},
{
"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": 23,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "TRPM3",
"gene_hgnc_id": 17992,
"hgvs_c": "c.514+1326T>G",
"hgvs_p": null,
"transcript": "ENST00000358082.7",
"protein_id": "ENSP00000350791.3",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1569,
"cds_start": null,
"cds_end": null,
"cds_length": 4710,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000358082.7"
},
{
"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": 6,
"intron_rank_end": null,
"gene_symbol": "TRPM3",
"gene_hgnc_id": 17992,
"hgvs_c": "c.514+1326T>G",
"hgvs_p": null,
"transcript": "ENST00000360823.6",
"protein_id": "ENSP00000354066.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1569,
"cds_start": null,
"cds_end": null,
"cds_length": 4710,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000360823.6"
},
{
"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": 6,
"intron_rank_end": null,
"gene_symbol": "TRPM3",
"gene_hgnc_id": 17992,
"hgvs_c": "c.514+1326T>G",
"hgvs_p": null,
"transcript": "NM_024971.7",
"protein_id": "NP_079247.5",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1566,
"cds_start": null,
"cds_end": null,
"cds_length": 4701,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_024971.7"
},
{
"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": 6,
"intron_rank_end": null,
"gene_symbol": "TRPM3",
"gene_hgnc_id": 17992,
"hgvs_c": "c.514+1326T>G",
"hgvs_p": null,
"transcript": "ENST00000377105.5",
"protein_id": "ENSP00000366309.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1566,
"cds_start": null,
"cds_end": null,
"cds_length": 4701,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000377105.5"
},
{
"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": 23,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "TRPM3",
"gene_hgnc_id": 17992,
"hgvs_c": "c.514+1326T>G",
"hgvs_p": null,
"transcript": "ENST00000396285.5",
"protein_id": "ENSP00000379581.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1566,
"cds_start": null,
"cds_end": null,
"cds_length": 4701,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000396285.5"
},
{
"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": 24,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "TRPM3",
"gene_hgnc_id": 17992,
"hgvs_c": "c.514+1326T>G",
"hgvs_p": null,
"transcript": "ENST00000408909.6",
"protein_id": "ENSP00000386127.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1566,
"cds_start": null,
"cds_end": null,
"cds_length": 4701,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000408909.6"
},
{
"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": 6,
"intron_rank_end": null,
"gene_symbol": "TRPM3",
"gene_hgnc_id": 17992,
"hgvs_c": "c.514+1326T>G",
"hgvs_p": null,
"transcript": "NM_206945.5",
"protein_id": "NP_996828.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1556,
"cds_start": null,
"cds_end": null,
"cds_length": 4671,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_206945.5"
},
{
"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": 23,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "TRPM3",
"gene_hgnc_id": 17992,
"hgvs_c": "c.514+1326T>G",
"hgvs_p": null,
"transcript": "ENST00000396280.9",
"protein_id": "ENSP00000379576.5",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1556,
"cds_start": null,
"cds_end": null,
"cds_length": 4671,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000396280.9"
},
{
"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": 6,
"intron_rank_end": null,
"gene_symbol": "TRPM3",
"gene_hgnc_id": 17992,
"hgvs_c": "c.514+1326T>G",
"hgvs_p": null,
"transcript": "NM_020952.6",
"protein_id": "NP_066003.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1554,
"cds_start": null,
"cds_end": null,
"cds_length": 4665,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_020952.6"
},
{
"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": 24,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "TRPM3",
"gene_hgnc_id": 17992,
"hgvs_c": "c.514+1326T>G",
"hgvs_p": null,
"transcript": "NM_206944.5",
"protein_id": "NP_996827.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1544,
"cds_start": null,
"cds_end": null,
"cds_length": 4635,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_206944.5"
},
{
"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": 6,
"intron_rank_end": null,
"gene_symbol": "TRPM3",
"gene_hgnc_id": 17992,
"hgvs_c": "c.973+1326T>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": null,
"cds_end": null,
"cds_length": 4101,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000704568.1"
},
{
"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": 6,
"intron_rank_end": null,
"gene_symbol": "TRPM3",
"gene_hgnc_id": 17992,
"hgvs_c": "c.973+1326T>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": null,
"cds_end": null,
"cds_length": 4089,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366152.2"
},
{
"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": 6,
"intron_rank_end": null,
"gene_symbol": "TRPM3",
"gene_hgnc_id": 17992,
"hgvs_c": "c.973+1326T>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": null,
"cds_end": null,
"cds_length": 4059,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366148.2"
},
{
"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": 6,
"intron_rank_end": null,
"gene_symbol": "TRPM3",
"gene_hgnc_id": 17992,
"hgvs_c": "c.979+1326T>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": null,
"cds_end": null,
"cds_length": 4020,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366142.2"
},
{
"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": 6,
"intron_rank_end": null,
"gene_symbol": "TRPM3",
"gene_hgnc_id": 17992,
"hgvs_c": "c.973+1326T>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": null,
"cds_end": null,
"cds_length": 4014,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366146.2"
},
{
"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": 6,
"intron_rank_end": null,
"gene_symbol": "TRPM3",
"gene_hgnc_id": 17992,
"hgvs_c": "c.979+1326T>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": null,
"cds_end": null,
"cds_length": 3984,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366143.2"
},
{
"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": 6,
"intron_rank_end": null,
"gene_symbol": "TRPM3",
"gene_hgnc_id": 17992,
"hgvs_c": "c.973+1326T>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": null,
"cds_end": null,
"cds_length": 3978,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366151.2"
},
{
"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": 6,
"intron_rank_end": null,
"gene_symbol": "TRPM3",
"gene_hgnc_id": 17992,
"hgvs_c": "c.973+1326T>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": null,
"cds_end": null,
"cds_length": 3948,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366150.2"
},
{
"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": 5,
"intron_rank_end": null,
"gene_symbol": "TRPM3",
"gene_hgnc_id": 17992,
"hgvs_c": "c.514+1326T>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": null,
"cds_end": null,
"cds_length": 3642,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000704566.1"
},
{
"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": 6,
"intron_rank_end": null,
"gene_symbol": "TRPM3",
"gene_hgnc_id": 17992,
"hgvs_c": "c.514+1326T>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": null,
"cds_end": null,
"cds_length": 3555,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366154.2"
},
{
"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": 6,
"intron_rank_end": null,
"gene_symbol": "TRPM3",
"gene_hgnc_id": 17992,
"hgvs_c": "c.514+1326T>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": null,
"cds_end": null,
"cds_length": 3555,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000677594.1"
},
{
"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": 7,
"intron_rank_end": null,
"gene_symbol": "TRPM3",
"gene_hgnc_id": 17992,
"hgvs_c": "c.514+1326T>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": null,
"cds_end": null,
"cds_length": 3519,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000704567.1"
},
{
"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": 5,
"intron_rank_end": null,
"gene_symbol": "TRPM3",
"gene_hgnc_id": 17992,
"hgvs_c": "c.514+1326T>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": null,
"cds_end": null,
"cds_length": 3516,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000704573.1"
},
{
"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": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "TRPM3",
"gene_hgnc_id": 17992,
"hgvs_c": "c.979+1326T>G",
"hgvs_p": null,
"transcript": "NM_001366144.2",
"protein_id": "NP_001353073.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 385,
"cds_start": null,
"cds_end": null,
"cds_length": 1158,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366144.2"
},
{
"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": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "TRPM3",
"gene_hgnc_id": 17992,
"hgvs_c": "c.973+1326T>G",
"hgvs_p": null,
"transcript": "NM_001366153.2",
"protein_id": "NP_001353082.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 383,
"cds_start": null,
"cds_end": null,
"cds_length": 1152,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366153.2"
},
{
"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": 9,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "TRPM3",
"gene_hgnc_id": 17992,
"hgvs_c": "c.514+1326T>G",
"hgvs_p": null,
"transcript": "ENST00000396283.5",
"protein_id": "ENSP00000379579.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 275,
"cds_start": null,
"cds_end": null,
"cds_length": 828,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000396283.5"
},
{
"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": 8,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "TRPM3",
"gene_hgnc_id": 17992,
"hgvs_c": "c.514+1326T>G",
"hgvs_p": null,
"transcript": "NM_001007470.3",
"protein_id": "NP_001007471.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 255,
"cds_start": null,
"cds_end": null,
"cds_length": 768,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001007470.3"
},
{
"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": 9,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "TRPM3",
"gene_hgnc_id": 17992,
"hgvs_c": "c.463+1326T>G",
"hgvs_p": null,
"transcript": "ENST00000704575.1",
"protein_id": "ENSP00000515951.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 238,
"cds_start": null,
"cds_end": null,
"cds_length": 717,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000704575.1"
},
{
"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": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "TRPM3",
"gene_hgnc_id": 17992,
"hgvs_c": "c.514+1326T>G",
"hgvs_p": null,
"transcript": "NM_206948.4",
"protein_id": "NP_996831.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 230,
"cds_start": null,
"cds_end": null,
"cds_length": 693,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_206948.4"
},
{
"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": 4,
"intron_rank_end": null,
"gene_symbol": "TRPM3",
"gene_hgnc_id": 17992,
"hgvs_c": "n.514+1326T>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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000704565.1"
},
{
"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": 8,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "TRPM3",
"gene_hgnc_id": 17992,
"hgvs_c": "n.796+1326T>G",
"hgvs_p": null,
"transcript": "ENST00000704569.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000704569.1"
},
{
"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": 23,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "TRPM3",
"gene_hgnc_id": 17992,
"hgvs_c": "n.889+1326T>G",
"hgvs_p": null,
"transcript": "ENST00000704571.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000704571.1"
},
{
"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": 20,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "TRPM3",
"gene_hgnc_id": 17992,
"hgvs_c": "n.514+1326T>G",
"hgvs_p": null,
"transcript": "ENST00000704574.1",
"protein_id": "ENSP00000515950.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000704574.1"
},
{
"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": 8,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "TRPM3",
"gene_hgnc_id": 17992,
"hgvs_c": "n.796+1326T>G",
"hgvs_p": null,
"transcript": "ENST00000704576.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000704576.1"
},
{
"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": 25,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "TRPM3",
"gene_hgnc_id": 17992,
"hgvs_c": "n.514+1326T>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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000715550.1"
}
],
"gene_symbol": "TRPM3",
"gene_hgnc_id": 17992,
"dbsnp": "rs10117842",
"frequency_reference_population": 0.43522513,
"hom_count_reference_population": 15286,
"allele_count_reference_population": 66196,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.435225,
"gnomad_exomes_ac": 0,
"gnomad_genomes_ac": 66196,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 15286,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8600000143051147,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.86,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.079,
"phylop100way_prediction": "Benign",
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_001366147.2",
"gene_symbol": "TRPM3",
"hgnc_id": 17992,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD,Unknown",
"hgvs_c": "c.973+1326T>G",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}