← 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: 7-31809092-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=31809092&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 31809092,
"ref": "A",
"alt": "G",
"effect": "synonymous_variant",
"transcript": "NM_001191058.4",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE1C",
"gene_hgnc_id": 8776,
"hgvs_c": "c.1830T>C",
"hgvs_p": "p.Gly610Gly",
"transcript": "NM_001191057.4",
"protein_id": "NP_001177986.1",
"transcript_support_level": null,
"aa_start": 610,
"aa_end": null,
"aa_length": 709,
"cds_start": 1830,
"cds_end": null,
"cds_length": 2130,
"cdna_start": 1844,
"cdna_end": null,
"cdna_length": 4349,
"mane_select": "ENST00000396191.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001191057.4"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE1C",
"gene_hgnc_id": 8776,
"hgvs_c": "c.1830T>C",
"hgvs_p": "p.Gly610Gly",
"transcript": "ENST00000396191.6",
"protein_id": "ENSP00000379494.1",
"transcript_support_level": 2,
"aa_start": 610,
"aa_end": null,
"aa_length": 709,
"cds_start": 1830,
"cds_end": null,
"cds_length": 2130,
"cdna_start": 1844,
"cdna_end": null,
"cdna_length": 4349,
"mane_select": "NM_001191057.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000396191.6"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE1C",
"gene_hgnc_id": 8776,
"hgvs_c": "c.1830T>C",
"hgvs_p": "p.Gly610Gly",
"transcript": "ENST00000396182.6",
"protein_id": "ENSP00000379485.2",
"transcript_support_level": 1,
"aa_start": 610,
"aa_end": null,
"aa_length": 634,
"cds_start": 1830,
"cds_end": null,
"cds_length": 1905,
"cdna_start": 2299,
"cdna_end": null,
"cdna_length": 2420,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000396182.6"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE1C",
"gene_hgnc_id": 8776,
"hgvs_c": "c.1830T>C",
"hgvs_p": "p.Gly610Gly",
"transcript": "ENST00000396184.7",
"protein_id": "ENSP00000379487.3",
"transcript_support_level": 1,
"aa_start": 610,
"aa_end": null,
"aa_length": 634,
"cds_start": 1830,
"cds_end": null,
"cds_length": 1905,
"cdna_start": 2035,
"cdna_end": null,
"cdna_length": 8852,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000396184.7"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE1C",
"gene_hgnc_id": 8776,
"hgvs_c": "c.2010T>C",
"hgvs_p": "p.Gly670Gly",
"transcript": "NM_001191058.4",
"protein_id": "NP_001177987.2",
"transcript_support_level": null,
"aa_start": 670,
"aa_end": null,
"aa_length": 769,
"cds_start": 2010,
"cds_end": null,
"cds_length": 2310,
"cdna_start": 2603,
"cdna_end": null,
"cdna_length": 5108,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001191058.4"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE1C",
"gene_hgnc_id": 8776,
"hgvs_c": "c.2235T>C",
"hgvs_p": "p.Gly745Gly",
"transcript": "NM_001322059.2",
"protein_id": "NP_001308988.1",
"transcript_support_level": null,
"aa_start": 745,
"aa_end": null,
"aa_length": 769,
"cds_start": 2235,
"cds_end": null,
"cds_length": 2310,
"cdna_start": 2328,
"cdna_end": null,
"cdna_length": 9139,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322059.2"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE1C",
"gene_hgnc_id": 8776,
"hgvs_c": "c.2010T>C",
"hgvs_p": "p.Gly670Gly",
"transcript": "ENST00000396193.5",
"protein_id": "ENSP00000379496.1",
"transcript_support_level": 2,
"aa_start": 670,
"aa_end": null,
"aa_length": 769,
"cds_start": 2010,
"cds_end": null,
"cds_length": 2310,
"cdna_start": 2604,
"cdna_end": null,
"cdna_length": 5109,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000396193.5"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE1C",
"gene_hgnc_id": 8776,
"hgvs_c": "c.1830T>C",
"hgvs_p": "p.Gly610Gly",
"transcript": "NM_001191059.4",
"protein_id": "NP_001177988.1",
"transcript_support_level": null,
"aa_start": 610,
"aa_end": null,
"aa_length": 709,
"cds_start": 1830,
"cds_end": null,
"cds_length": 2130,
"cdna_start": 1882,
"cdna_end": null,
"cdna_length": 4387,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001191059.4"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE1C",
"gene_hgnc_id": 8776,
"hgvs_c": "c.1830T>C",
"hgvs_p": "p.Gly610Gly",
"transcript": "NM_001322055.2",
"protein_id": "NP_001308984.1",
"transcript_support_level": null,
"aa_start": 610,
"aa_end": null,
"aa_length": 709,
"cds_start": 1830,
"cds_end": null,
"cds_length": 2130,
"cdna_start": 2117,
"cdna_end": null,
"cdna_length": 4622,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322055.2"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE1C",
"gene_hgnc_id": 8776,
"hgvs_c": "c.1830T>C",
"hgvs_p": "p.Gly610Gly",
"transcript": "ENST00000321453.12",
"protein_id": "ENSP00000318105.7",
"transcript_support_level": 2,
"aa_start": 610,
"aa_end": null,
"aa_length": 709,
"cds_start": 1830,
"cds_end": null,
"cds_length": 2130,
"cdna_start": 2290,
"cdna_end": null,
"cdna_length": 4795,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000321453.12"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE1C",
"gene_hgnc_id": 8776,
"hgvs_c": "c.1830T>C",
"hgvs_p": "p.Gly610Gly",
"transcript": "ENST00000856457.1",
"protein_id": "ENSP00000526516.1",
"transcript_support_level": null,
"aa_start": 610,
"aa_end": null,
"aa_length": 709,
"cds_start": 1830,
"cds_end": null,
"cds_length": 2130,
"cdna_start": 1960,
"cdna_end": null,
"cdna_length": 4463,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856457.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE1C",
"gene_hgnc_id": 8776,
"hgvs_c": "c.1830T>C",
"hgvs_p": "p.Gly610Gly",
"transcript": "ENST00000952474.1",
"protein_id": "ENSP00000622533.1",
"transcript_support_level": null,
"aa_start": 610,
"aa_end": null,
"aa_length": 709,
"cds_start": 1830,
"cds_end": null,
"cds_length": 2130,
"cdna_start": 2063,
"cdna_end": null,
"cdna_length": 2984,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952474.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE1C",
"gene_hgnc_id": 8776,
"hgvs_c": "c.1803T>C",
"hgvs_p": "p.Gly601Gly",
"transcript": "ENST00000952473.1",
"protein_id": "ENSP00000622532.1",
"transcript_support_level": null,
"aa_start": 601,
"aa_end": null,
"aa_length": 700,
"cds_start": 1803,
"cds_end": null,
"cds_length": 2103,
"cdna_start": 2117,
"cdna_end": null,
"cdna_length": 4619,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952473.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE1C",
"gene_hgnc_id": 8776,
"hgvs_c": "c.2010T>C",
"hgvs_p": "p.Gly670Gly",
"transcript": "NM_001322058.2",
"protein_id": "NP_001308987.1",
"transcript_support_level": null,
"aa_start": 670,
"aa_end": null,
"aa_length": 694,
"cds_start": 2010,
"cds_end": null,
"cds_length": 2085,
"cdna_start": 2603,
"cdna_end": null,
"cdna_length": 9414,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322058.2"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE1C",
"gene_hgnc_id": 8776,
"hgvs_c": "c.1830T>C",
"hgvs_p": "p.Gly610Gly",
"transcript": "NM_001191056.3",
"protein_id": "NP_001177985.1",
"transcript_support_level": null,
"aa_start": 610,
"aa_end": null,
"aa_length": 634,
"cds_start": 1830,
"cds_end": null,
"cds_length": 1905,
"cdna_start": 2299,
"cdna_end": null,
"cdna_length": 9110,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001191056.3"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE1C",
"gene_hgnc_id": 8776,
"hgvs_c": "c.1830T>C",
"hgvs_p": "p.Gly610Gly",
"transcript": "NM_001322056.2",
"protein_id": "NP_001308985.1",
"transcript_support_level": null,
"aa_start": 610,
"aa_end": null,
"aa_length": 634,
"cds_start": 1830,
"cds_end": null,
"cds_length": 1905,
"cdna_start": 1882,
"cdna_end": null,
"cdna_length": 8693,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322056.2"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE1C",
"gene_hgnc_id": 8776,
"hgvs_c": "c.1830T>C",
"hgvs_p": "p.Gly610Gly",
"transcript": "NM_001322057.2",
"protein_id": "NP_001308986.1",
"transcript_support_level": null,
"aa_start": 610,
"aa_end": null,
"aa_length": 634,
"cds_start": 1830,
"cds_end": null,
"cds_length": 1905,
"cdna_start": 2117,
"cdna_end": null,
"cdna_length": 8928,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322057.2"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE1C",
"gene_hgnc_id": 8776,
"hgvs_c": "c.1830T>C",
"hgvs_p": "p.Gly610Gly",
"transcript": "NM_005020.5",
"protein_id": "NP_005011.1",
"transcript_support_level": null,
"aa_start": 610,
"aa_end": null,
"aa_length": 634,
"cds_start": 1830,
"cds_end": null,
"cds_length": 1905,
"cdna_start": 2063,
"cdna_end": null,
"cdna_length": 8874,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005020.5"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE1C",
"gene_hgnc_id": 8776,
"hgvs_c": "c.2115T>C",
"hgvs_p": "p.Gly705Gly",
"transcript": "XM_017012264.1",
"protein_id": "XP_016867753.1",
"transcript_support_level": null,
"aa_start": 705,
"aa_end": null,
"aa_length": 804,
"cds_start": 2115,
"cds_end": null,
"cds_length": 2415,
"cdna_start": 2130,
"cdna_end": null,
"cdna_length": 4635,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017012264.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE1C",
"gene_hgnc_id": 8776,
"hgvs_c": "c.1950T>C",
"hgvs_p": "p.Gly650Gly",
"transcript": "XM_017012265.1",
"protein_id": "XP_016867754.1",
"transcript_support_level": null,
"aa_start": 650,
"aa_end": null,
"aa_length": 749,
"cds_start": 1950,
"cds_end": null,
"cds_length": 2250,
"cdna_start": 1981,
"cdna_end": null,
"cdna_length": 4486,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017012265.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE1C",
"gene_hgnc_id": 8776,
"hgvs_c": "c.2115T>C",
"hgvs_p": "p.Gly705Gly",
"transcript": "XM_017012266.2",
"protein_id": "XP_016867755.1",
"transcript_support_level": null,
"aa_start": 705,
"aa_end": null,
"aa_length": 729,
"cds_start": 2115,
"cds_end": null,
"cds_length": 2190,
"cdna_start": 2130,
"cdna_end": null,
"cdna_length": 8941,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017012266.2"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE1C",
"gene_hgnc_id": 8776,
"hgvs_c": "c.1830T>C",
"hgvs_p": "p.Gly610Gly",
"transcript": "XM_017012267.2",
"protein_id": "XP_016867756.1",
"transcript_support_level": null,
"aa_start": 610,
"aa_end": null,
"aa_length": 709,
"cds_start": 1830,
"cds_end": null,
"cds_length": 2130,
"cdna_start": 2063,
"cdna_end": null,
"cdna_length": 4568,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017012267.2"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE1C",
"gene_hgnc_id": 8776,
"hgvs_c": "c.1830T>C",
"hgvs_p": "p.Gly610Gly",
"transcript": "XM_047420440.1",
"protein_id": "XP_047276396.1",
"transcript_support_level": null,
"aa_start": 610,
"aa_end": null,
"aa_length": 709,
"cds_start": 1830,
"cds_end": null,
"cds_length": 2130,
"cdna_start": 2257,
"cdna_end": null,
"cdna_length": 4762,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047420440.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE1C",
"gene_hgnc_id": 8776,
"hgvs_c": "c.1830T>C",
"hgvs_p": "p.Gly610Gly",
"transcript": "XM_047420441.1",
"protein_id": "XP_047276397.1",
"transcript_support_level": null,
"aa_start": 610,
"aa_end": null,
"aa_length": 699,
"cds_start": 1830,
"cds_end": null,
"cds_length": 2100,
"cdna_start": 2299,
"cdna_end": null,
"cdna_length": 3009,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047420441.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE1C",
"gene_hgnc_id": 8776,
"hgvs_c": "c.1830T>C",
"hgvs_p": "p.Gly610Gly",
"transcript": "XM_047420442.1",
"protein_id": "XP_047276398.1",
"transcript_support_level": null,
"aa_start": 610,
"aa_end": null,
"aa_length": 699,
"cds_start": 1830,
"cds_end": null,
"cds_length": 2100,
"cdna_start": 2063,
"cdna_end": null,
"cdna_length": 2773,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047420442.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE1C",
"gene_hgnc_id": 8776,
"hgvs_c": "c.1830T>C",
"hgvs_p": "p.Gly610Gly",
"transcript": "XM_047420443.1",
"protein_id": "XP_047276399.1",
"transcript_support_level": null,
"aa_start": 610,
"aa_end": null,
"aa_length": 699,
"cds_start": 1830,
"cds_end": null,
"cds_length": 2100,
"cdna_start": 2259,
"cdna_end": null,
"cdna_length": 2969,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047420443.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE1C",
"gene_hgnc_id": 8776,
"hgvs_c": "c.1830T>C",
"hgvs_p": "p.Gly610Gly",
"transcript": "XM_047420444.1",
"protein_id": "XP_047276400.1",
"transcript_support_level": null,
"aa_start": 610,
"aa_end": null,
"aa_length": 634,
"cds_start": 1830,
"cds_end": null,
"cds_length": 1905,
"cdna_start": 2250,
"cdna_end": null,
"cdna_length": 9061,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047420444.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE1C",
"gene_hgnc_id": 8776,
"hgvs_c": "c.1491T>C",
"hgvs_p": "p.Gly497Gly",
"transcript": "XM_047420445.1",
"protein_id": "XP_047276401.1",
"transcript_support_level": null,
"aa_start": 497,
"aa_end": null,
"aa_length": 596,
"cds_start": 1491,
"cds_end": null,
"cds_length": 1791,
"cdna_start": 50023,
"cdna_end": null,
"cdna_length": 52528,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047420445.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE1C",
"gene_hgnc_id": 8776,
"hgvs_c": "c.1491T>C",
"hgvs_p": "p.Gly497Gly",
"transcript": "XM_047420446.1",
"protein_id": "XP_047276402.1",
"transcript_support_level": null,
"aa_start": 497,
"aa_end": null,
"aa_length": 521,
"cds_start": 1491,
"cds_end": null,
"cds_length": 1566,
"cdna_start": 15930,
"cdna_end": null,
"cdna_length": 22741,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047420446.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE1C",
"gene_hgnc_id": 8776,
"hgvs_c": "n.637T>C",
"hgvs_p": null,
"transcript": "ENST00000479980.1",
"protein_id": null,
"transcript_support_level": 4,
"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": 787,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000479980.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE1C",
"gene_hgnc_id": 8776,
"hgvs_c": "n.2130T>C",
"hgvs_p": null,
"transcript": "XR_001744802.1",
"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": 2924,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_001744802.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE1C",
"gene_hgnc_id": 8776,
"hgvs_c": "n.2130T>C",
"hgvs_p": null,
"transcript": "XR_001744803.1",
"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": 3018,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_001744803.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE1C",
"gene_hgnc_id": 8776,
"hgvs_c": "n.1882T>C",
"hgvs_p": null,
"transcript": "XR_007060042.1",
"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": 2676,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007060042.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE1C",
"gene_hgnc_id": 8776,
"hgvs_c": "n.2299T>C",
"hgvs_p": null,
"transcript": "XR_007060043.1",
"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": 3058,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007060043.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE1C",
"gene_hgnc_id": 8776,
"hgvs_c": "n.1882T>C",
"hgvs_p": null,
"transcript": "XR_007060044.1",
"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": 2557,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007060044.1"
}
],
"gene_symbol": "PDE1C",
"gene_hgnc_id": 8776,
"dbsnp": "rs3213709",
"frequency_reference_population": 0.19324672,
"hom_count_reference_population": 30873,
"allele_count_reference_population": 305891,
"gnomad_exomes_af": 0.192659,
"gnomad_genomes_af": 0.198783,
"gnomad_exomes_ac": 275697,
"gnomad_genomes_ac": 30194,
"gnomad_exomes_homalt": 27781,
"gnomad_genomes_homalt": 3092,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.5099999904632568,
"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": -0.51,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.062,
"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": -21,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BA1",
"acmg_by_gene": [
{
"score": -21,
"benign_score": 21,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_001191058.4",
"gene_symbol": "PDE1C",
"hgnc_id": 8776,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD,Unknown",
"hgvs_c": "c.2010T>C",
"hgvs_p": "p.Gly670Gly"
}
],
"clinvar_disease": " autosomal dominant 74,Hearing loss,not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"phenotype_combined": "not provided|Hearing loss, autosomal dominant 74",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}