← 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: 3-167695690-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=167695690&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 167695690,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_007217.4",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDCD10",
"gene_hgnc_id": 8761,
"hgvs_c": "c.301C>G",
"hgvs_p": "p.Gln101Glu",
"transcript": "NM_007217.4",
"protein_id": "NP_009148.2",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 212,
"cds_start": 301,
"cds_end": null,
"cds_length": 639,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000392750.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_007217.4"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDCD10",
"gene_hgnc_id": 8761,
"hgvs_c": "c.301C>G",
"hgvs_p": "p.Gln101Glu",
"transcript": "ENST00000392750.7",
"protein_id": "ENSP00000376506.2",
"transcript_support_level": 1,
"aa_start": 101,
"aa_end": null,
"aa_length": 212,
"cds_start": 301,
"cds_end": null,
"cds_length": 639,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_007217.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000392750.7"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDCD10",
"gene_hgnc_id": 8761,
"hgvs_c": "c.301C>G",
"hgvs_p": "p.Gln101Glu",
"transcript": "ENST00000473645.6",
"protein_id": "ENSP00000418317.2",
"transcript_support_level": 1,
"aa_start": 101,
"aa_end": null,
"aa_length": 212,
"cds_start": 301,
"cds_end": null,
"cds_length": 639,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000473645.6"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDCD10",
"gene_hgnc_id": 8761,
"hgvs_c": "c.301C>G",
"hgvs_p": "p.Gln101Glu",
"transcript": "ENST00000497056.6",
"protein_id": "ENSP00000420553.2",
"transcript_support_level": 1,
"aa_start": 101,
"aa_end": null,
"aa_length": 212,
"cds_start": 301,
"cds_end": null,
"cds_length": 639,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000497056.6"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDCD10",
"gene_hgnc_id": 8761,
"hgvs_c": "c.301C>G",
"hgvs_p": "p.Gln101Glu",
"transcript": "NM_001439202.1",
"protein_id": "NP_001426131.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 212,
"cds_start": 301,
"cds_end": null,
"cds_length": 639,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001439202.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDCD10",
"gene_hgnc_id": 8761,
"hgvs_c": "c.301C>G",
"hgvs_p": "p.Gln101Glu",
"transcript": "NM_001439204.1",
"protein_id": "NP_001426133.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 212,
"cds_start": 301,
"cds_end": null,
"cds_length": 639,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001439204.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDCD10",
"gene_hgnc_id": 8761,
"hgvs_c": "c.301C>G",
"hgvs_p": "p.Gln101Glu",
"transcript": "NM_001439205.1",
"protein_id": "NP_001426134.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 212,
"cds_start": 301,
"cds_end": null,
"cds_length": 639,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001439205.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDCD10",
"gene_hgnc_id": 8761,
"hgvs_c": "c.301C>G",
"hgvs_p": "p.Gln101Glu",
"transcript": "NM_145859.2",
"protein_id": "NP_665858.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 212,
"cds_start": 301,
"cds_end": null,
"cds_length": 639,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_145859.2"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDCD10",
"gene_hgnc_id": 8761,
"hgvs_c": "c.301C>G",
"hgvs_p": "p.Gln101Glu",
"transcript": "NM_145860.2",
"protein_id": "NP_665859.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 212,
"cds_start": 301,
"cds_end": null,
"cds_length": 639,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_145860.2"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDCD10",
"gene_hgnc_id": 8761,
"hgvs_c": "c.301C>G",
"hgvs_p": "p.Gln101Glu",
"transcript": "ENST00000461494.5",
"protein_id": "ENSP00000420021.1",
"transcript_support_level": 3,
"aa_start": 101,
"aa_end": null,
"aa_length": 212,
"cds_start": 301,
"cds_end": null,
"cds_length": 639,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000461494.5"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDCD10",
"gene_hgnc_id": 8761,
"hgvs_c": "c.301C>G",
"hgvs_p": "p.Gln101Glu",
"transcript": "ENST00000470131.5",
"protein_id": "ENSP00000417202.1",
"transcript_support_level": 5,
"aa_start": 101,
"aa_end": null,
"aa_length": 212,
"cds_start": 301,
"cds_end": null,
"cds_length": 639,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000470131.5"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDCD10",
"gene_hgnc_id": 8761,
"hgvs_c": "c.301C>G",
"hgvs_p": "p.Gln101Glu",
"transcript": "ENST00000877652.1",
"protein_id": "ENSP00000547711.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 212,
"cds_start": 301,
"cds_end": null,
"cds_length": 639,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877652.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDCD10",
"gene_hgnc_id": 8761,
"hgvs_c": "c.301C>G",
"hgvs_p": "p.Gln101Glu",
"transcript": "ENST00000877653.1",
"protein_id": "ENSP00000547712.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 212,
"cds_start": 301,
"cds_end": null,
"cds_length": 639,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877653.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDCD10",
"gene_hgnc_id": 8761,
"hgvs_c": "c.301C>G",
"hgvs_p": "p.Gln101Glu",
"transcript": "ENST00000877654.1",
"protein_id": "ENSP00000547713.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 212,
"cds_start": 301,
"cds_end": null,
"cds_length": 639,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877654.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDCD10",
"gene_hgnc_id": 8761,
"hgvs_c": "c.301C>G",
"hgvs_p": "p.Gln101Glu",
"transcript": "ENST00000877655.1",
"protein_id": "ENSP00000547714.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 212,
"cds_start": 301,
"cds_end": null,
"cds_length": 639,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877655.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDCD10",
"gene_hgnc_id": 8761,
"hgvs_c": "c.301C>G",
"hgvs_p": "p.Gln101Glu",
"transcript": "ENST00000877656.1",
"protein_id": "ENSP00000547715.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 212,
"cds_start": 301,
"cds_end": null,
"cds_length": 639,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877656.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDCD10",
"gene_hgnc_id": 8761,
"hgvs_c": "c.301C>G",
"hgvs_p": "p.Gln101Glu",
"transcript": "ENST00000877657.1",
"protein_id": "ENSP00000547716.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 212,
"cds_start": 301,
"cds_end": null,
"cds_length": 639,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877657.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDCD10",
"gene_hgnc_id": 8761,
"hgvs_c": "c.301C>G",
"hgvs_p": "p.Gln101Glu",
"transcript": "ENST00000877658.1",
"protein_id": "ENSP00000547717.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 212,
"cds_start": 301,
"cds_end": null,
"cds_length": 639,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877658.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDCD10",
"gene_hgnc_id": 8761,
"hgvs_c": "c.301C>G",
"hgvs_p": "p.Gln101Glu",
"transcript": "ENST00000877659.1",
"protein_id": "ENSP00000547718.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 212,
"cds_start": 301,
"cds_end": null,
"cds_length": 639,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877659.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDCD10",
"gene_hgnc_id": 8761,
"hgvs_c": "c.301C>G",
"hgvs_p": "p.Gln101Glu",
"transcript": "ENST00000877660.1",
"protein_id": "ENSP00000547719.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 212,
"cds_start": 301,
"cds_end": null,
"cds_length": 639,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877660.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDCD10",
"gene_hgnc_id": 8761,
"hgvs_c": "c.301C>G",
"hgvs_p": "p.Gln101Glu",
"transcript": "ENST00000877661.1",
"protein_id": "ENSP00000547720.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 212,
"cds_start": 301,
"cds_end": null,
"cds_length": 639,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877661.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDCD10",
"gene_hgnc_id": 8761,
"hgvs_c": "c.301C>G",
"hgvs_p": "p.Gln101Glu",
"transcript": "ENST00000877662.1",
"protein_id": "ENSP00000547721.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 212,
"cds_start": 301,
"cds_end": null,
"cds_length": 639,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877662.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDCD10",
"gene_hgnc_id": 8761,
"hgvs_c": "c.301C>G",
"hgvs_p": "p.Gln101Glu",
"transcript": "ENST00000877663.1",
"protein_id": "ENSP00000547722.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 212,
"cds_start": 301,
"cds_end": null,
"cds_length": 639,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877663.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDCD10",
"gene_hgnc_id": 8761,
"hgvs_c": "c.301C>G",
"hgvs_p": "p.Gln101Glu",
"transcript": "ENST00000877664.1",
"protein_id": "ENSP00000547723.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 212,
"cds_start": 301,
"cds_end": null,
"cds_length": 639,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877664.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDCD10",
"gene_hgnc_id": 8761,
"hgvs_c": "c.301C>G",
"hgvs_p": "p.Gln101Glu",
"transcript": "ENST00000877665.1",
"protein_id": "ENSP00000547724.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 212,
"cds_start": 301,
"cds_end": null,
"cds_length": 639,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877665.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDCD10",
"gene_hgnc_id": 8761,
"hgvs_c": "c.301C>G",
"hgvs_p": "p.Gln101Glu",
"transcript": "ENST00000877666.1",
"protein_id": "ENSP00000547725.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 212,
"cds_start": 301,
"cds_end": null,
"cds_length": 639,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877666.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDCD10",
"gene_hgnc_id": 8761,
"hgvs_c": "c.301C>G",
"hgvs_p": "p.Gln101Glu",
"transcript": "ENST00000877667.1",
"protein_id": "ENSP00000547726.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 212,
"cds_start": 301,
"cds_end": null,
"cds_length": 639,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877667.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDCD10",
"gene_hgnc_id": 8761,
"hgvs_c": "c.301C>G",
"hgvs_p": "p.Gln101Glu",
"transcript": "ENST00000877669.1",
"protein_id": "ENSP00000547728.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 212,
"cds_start": 301,
"cds_end": null,
"cds_length": 639,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877669.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDCD10",
"gene_hgnc_id": 8761,
"hgvs_c": "c.301C>G",
"hgvs_p": "p.Gln101Glu",
"transcript": "ENST00000877670.1",
"protein_id": "ENSP00000547729.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 212,
"cds_start": 301,
"cds_end": null,
"cds_length": 639,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877670.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDCD10",
"gene_hgnc_id": 8761,
"hgvs_c": "c.301C>G",
"hgvs_p": "p.Gln101Glu",
"transcript": "ENST00000877671.1",
"protein_id": "ENSP00000547730.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 212,
"cds_start": 301,
"cds_end": null,
"cds_length": 639,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877671.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDCD10",
"gene_hgnc_id": 8761,
"hgvs_c": "c.301C>G",
"hgvs_p": "p.Gln101Glu",
"transcript": "ENST00000935493.1",
"protein_id": "ENSP00000605552.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 212,
"cds_start": 301,
"cds_end": null,
"cds_length": 639,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935493.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDCD10",
"gene_hgnc_id": 8761,
"hgvs_c": "c.301C>G",
"hgvs_p": "p.Gln101Glu",
"transcript": "ENST00000935494.1",
"protein_id": "ENSP00000605553.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 212,
"cds_start": 301,
"cds_end": null,
"cds_length": 639,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935494.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDCD10",
"gene_hgnc_id": 8761,
"hgvs_c": "c.301C>G",
"hgvs_p": "p.Gln101Glu",
"transcript": "ENST00000935496.1",
"protein_id": "ENSP00000605555.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 212,
"cds_start": 301,
"cds_end": null,
"cds_length": 639,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935496.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDCD10",
"gene_hgnc_id": 8761,
"hgvs_c": "c.301C>G",
"hgvs_p": "p.Gln101Glu",
"transcript": "ENST00000935497.1",
"protein_id": "ENSP00000605556.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 212,
"cds_start": 301,
"cds_end": null,
"cds_length": 639,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935497.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDCD10",
"gene_hgnc_id": 8761,
"hgvs_c": "c.301C>G",
"hgvs_p": "p.Gln101Glu",
"transcript": "ENST00000935498.1",
"protein_id": "ENSP00000605557.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 212,
"cds_start": 301,
"cds_end": null,
"cds_length": 639,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935498.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDCD10",
"gene_hgnc_id": 8761,
"hgvs_c": "c.301C>G",
"hgvs_p": "p.Gln101Glu",
"transcript": "ENST00000935499.1",
"protein_id": "ENSP00000605558.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 212,
"cds_start": 301,
"cds_end": null,
"cds_length": 639,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935499.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDCD10",
"gene_hgnc_id": 8761,
"hgvs_c": "c.301C>G",
"hgvs_p": "p.Gln101Glu",
"transcript": "ENST00000956402.1",
"protein_id": "ENSP00000626461.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 212,
"cds_start": 301,
"cds_end": null,
"cds_length": 639,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956402.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDCD10",
"gene_hgnc_id": 8761,
"hgvs_c": "c.301C>G",
"hgvs_p": "p.Gln101Glu",
"transcript": "ENST00000956403.1",
"protein_id": "ENSP00000626462.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 212,
"cds_start": 301,
"cds_end": null,
"cds_length": 639,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956403.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDCD10",
"gene_hgnc_id": 8761,
"hgvs_c": "c.301C>G",
"hgvs_p": "p.Gln101Glu",
"transcript": "ENST00000956404.1",
"protein_id": "ENSP00000626463.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 212,
"cds_start": 301,
"cds_end": null,
"cds_length": 639,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956404.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDCD10",
"gene_hgnc_id": 8761,
"hgvs_c": "c.280C>G",
"hgvs_p": "p.Gln94Glu",
"transcript": "ENST00000877668.1",
"protein_id": "ENSP00000547727.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 205,
"cds_start": 280,
"cds_end": null,
"cds_length": 618,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877668.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDCD10",
"gene_hgnc_id": 8761,
"hgvs_c": "c.301C>G",
"hgvs_p": "p.Gln101Glu",
"transcript": "ENST00000475915.6",
"protein_id": "ENSP00000417118.2",
"transcript_support_level": 5,
"aa_start": 101,
"aa_end": null,
"aa_length": 201,
"cds_start": 301,
"cds_end": null,
"cds_length": 608,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000475915.6"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDCD10",
"gene_hgnc_id": 8761,
"hgvs_c": "c.301C>G",
"hgvs_p": "p.Gln101Glu",
"transcript": "ENST00000471885.5",
"protein_id": "ENSP00000417876.1",
"transcript_support_level": 5,
"aa_start": 101,
"aa_end": null,
"aa_length": 186,
"cds_start": 301,
"cds_end": null,
"cds_length": 561,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000471885.5"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDCD10",
"gene_hgnc_id": 8761,
"hgvs_c": "c.301C>G",
"hgvs_p": "p.Gln101Glu",
"transcript": "ENST00000487947.6",
"protein_id": "ENSP00000420266.2",
"transcript_support_level": 5,
"aa_start": 101,
"aa_end": null,
"aa_length": 186,
"cds_start": 301,
"cds_end": null,
"cds_length": 561,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000487947.6"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDCD10",
"gene_hgnc_id": 8761,
"hgvs_c": "c.112C>G",
"hgvs_p": "p.Gln38Glu",
"transcript": "ENST00000492396.5",
"protein_id": "ENSP00000417309.1",
"transcript_support_level": 5,
"aa_start": 38,
"aa_end": null,
"aa_length": 149,
"cds_start": 112,
"cds_end": null,
"cds_length": 450,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000492396.5"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDCD10",
"gene_hgnc_id": 8761,
"hgvs_c": "c.301C>G",
"hgvs_p": "p.Gln101Glu",
"transcript": "ENST00000935495.1",
"protein_id": "ENSP00000605554.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 149,
"cds_start": 301,
"cds_end": null,
"cds_length": 450,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935495.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDCD10",
"gene_hgnc_id": 8761,
"hgvs_c": "c.301C>G",
"hgvs_p": "p.Gln101Glu",
"transcript": "ENST00000462725.6",
"protein_id": "ENSP00000420424.2",
"transcript_support_level": 5,
"aa_start": 101,
"aa_end": null,
"aa_length": 145,
"cds_start": 301,
"cds_end": null,
"cds_length": 440,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000462725.6"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDCD10",
"gene_hgnc_id": 8761,
"hgvs_c": "c.301C>G",
"hgvs_p": "p.Gln101Glu",
"transcript": "ENST00000492139.5",
"protein_id": "ENSP00000420014.1",
"transcript_support_level": 5,
"aa_start": 101,
"aa_end": null,
"aa_length": 133,
"cds_start": 301,
"cds_end": null,
"cds_length": 402,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000492139.5"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDCD10",
"gene_hgnc_id": 8761,
"hgvs_c": "c.241C>G",
"hgvs_p": "p.Gln81Glu",
"transcript": "ENST00000479121.5",
"protein_id": "ENSP00000420308.1",
"transcript_support_level": 5,
"aa_start": 81,
"aa_end": null,
"aa_length": 121,
"cds_start": 241,
"cds_end": null,
"cds_length": 366,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000479121.5"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDCD10",
"gene_hgnc_id": 8761,
"hgvs_c": "c.301C>G",
"hgvs_p": "p.Gln101Glu",
"transcript": "XM_005247087.6",
"protein_id": "XP_005247144.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 212,
"cds_start": 301,
"cds_end": null,
"cds_length": 639,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005247087.6"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDCD10",
"gene_hgnc_id": 8761,
"hgvs_c": "c.301C>G",
"hgvs_p": "p.Gln101Glu",
"transcript": "XM_011512368.4",
"protein_id": "XP_011510670.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 212,
"cds_start": 301,
"cds_end": null,
"cds_length": 639,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011512368.4"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDCD10",
"gene_hgnc_id": 8761,
"hgvs_c": "c.301C>G",
"hgvs_p": "p.Gln101Glu",
"transcript": "XM_011512369.4",
"protein_id": "XP_011510671.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 212,
"cds_start": 301,
"cds_end": null,
"cds_length": 639,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011512369.4"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDCD10",
"gene_hgnc_id": 8761,
"hgvs_c": "c.301C>G",
"hgvs_p": "p.Gln101Glu",
"transcript": "XM_017005644.3",
"protein_id": "XP_016861133.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 212,
"cds_start": 301,
"cds_end": null,
"cds_length": 639,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017005644.3"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDCD10",
"gene_hgnc_id": 8761,
"hgvs_c": "c.301C>G",
"hgvs_p": "p.Gln101Glu",
"transcript": "XM_047447374.1",
"protein_id": "XP_047303330.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 212,
"cds_start": 301,
"cds_end": null,
"cds_length": 639,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447374.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDCD10",
"gene_hgnc_id": 8761,
"hgvs_c": "c.301C>G",
"hgvs_p": "p.Gln101Glu",
"transcript": "XM_047447375.1",
"protein_id": "XP_047303331.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 212,
"cds_start": 301,
"cds_end": null,
"cds_length": 639,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447375.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDCD10",
"gene_hgnc_id": 8761,
"hgvs_c": "n.1025C>G",
"hgvs_p": null,
"transcript": "ENST00000483451.5",
"protein_id": null,
"transcript_support_level": 5,
"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": "ENST00000483451.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDCD10",
"gene_hgnc_id": 8761,
"hgvs_c": "n.*249C>G",
"hgvs_p": null,
"transcript": "ENST00000494502.6",
"protein_id": "ENSP00000420450.2",
"transcript_support_level": 5,
"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": "ENST00000494502.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDCD10",
"gene_hgnc_id": 8761,
"hgvs_c": "n.*249C>G",
"hgvs_p": null,
"transcript": "ENST00000494502.6",
"protein_id": "ENSP00000420450.2",
"transcript_support_level": 5,
"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": "ENST00000494502.6"
}
],
"gene_symbol": "PDCD10",
"gene_hgnc_id": 8761,
"dbsnp": "rs1303470125",
"frequency_reference_population": 0.000002053121,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 0.00000205312,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5466881990432739,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.176,
"revel_prediction": "Benign",
"alphamissense_score": 0.14,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.22,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 9.864,
"phylop100way_prediction": "Pathogenic",
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_007217.4",
"gene_symbol": "PDCD10",
"hgnc_id": 8761,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.301C>G",
"hgvs_p": "p.Gln101Glu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}