← 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: 14-71033444-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=71033444&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 71033444,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_014982.3",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCNX1",
"gene_hgnc_id": 19740,
"hgvs_c": "c.3574C>G",
"hgvs_p": "p.Gln1192Glu",
"transcript": "NM_014982.3",
"protein_id": "NP_055797.2",
"transcript_support_level": null,
"aa_start": 1192,
"aa_end": null,
"aa_length": 2341,
"cds_start": 3574,
"cds_end": null,
"cds_length": 7026,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000304743.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014982.3"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCNX1",
"gene_hgnc_id": 19740,
"hgvs_c": "c.3574C>G",
"hgvs_p": "p.Gln1192Glu",
"transcript": "ENST00000304743.7",
"protein_id": "ENSP00000304192.2",
"transcript_support_level": 1,
"aa_start": 1192,
"aa_end": null,
"aa_length": 2341,
"cds_start": 3574,
"cds_end": null,
"cds_length": 7026,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_014982.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000304743.7"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCNX1",
"gene_hgnc_id": 19740,
"hgvs_c": "c.3241C>G",
"hgvs_p": "p.Gln1081Glu",
"transcript": "ENST00000439984.7",
"protein_id": "ENSP00000396617.3",
"transcript_support_level": 1,
"aa_start": 1081,
"aa_end": null,
"aa_length": 2230,
"cds_start": 3241,
"cds_end": null,
"cds_length": 6693,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000439984.7"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCNX1",
"gene_hgnc_id": 19740,
"hgvs_c": "c.748C>G",
"hgvs_p": "p.Gln250Glu",
"transcript": "ENST00000554691.5",
"protein_id": "ENSP00000451016.1",
"transcript_support_level": 1,
"aa_start": 250,
"aa_end": null,
"aa_length": 1327,
"cds_start": 748,
"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": "ENST00000554691.5"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCNX1",
"gene_hgnc_id": 19740,
"hgvs_c": "c.3241C>G",
"hgvs_p": "p.Gln1081Glu",
"transcript": "NM_001308160.2",
"protein_id": "NP_001295089.1",
"transcript_support_level": null,
"aa_start": 1081,
"aa_end": null,
"aa_length": 2230,
"cds_start": 3241,
"cds_end": null,
"cds_length": 6693,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001308160.2"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCNX1",
"gene_hgnc_id": 19740,
"hgvs_c": "c.3574C>G",
"hgvs_p": "p.Gln1192Glu",
"transcript": "XM_005267420.5",
"protein_id": "XP_005267477.1",
"transcript_support_level": null,
"aa_start": 1192,
"aa_end": null,
"aa_length": 2349,
"cds_start": 3574,
"cds_end": null,
"cds_length": 7050,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005267420.5"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCNX1",
"gene_hgnc_id": 19740,
"hgvs_c": "c.3571C>G",
"hgvs_p": "p.Gln1191Glu",
"transcript": "XM_005267421.5",
"protein_id": "XP_005267478.1",
"transcript_support_level": null,
"aa_start": 1191,
"aa_end": null,
"aa_length": 2348,
"cds_start": 3571,
"cds_end": null,
"cds_length": 7047,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005267421.5"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCNX1",
"gene_hgnc_id": 19740,
"hgvs_c": "c.3559C>G",
"hgvs_p": "p.Gln1187Glu",
"transcript": "XM_005267422.5",
"protein_id": "XP_005267479.1",
"transcript_support_level": null,
"aa_start": 1187,
"aa_end": null,
"aa_length": 2344,
"cds_start": 3559,
"cds_end": null,
"cds_length": 7035,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005267422.5"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCNX1",
"gene_hgnc_id": 19740,
"hgvs_c": "c.3571C>G",
"hgvs_p": "p.Gln1191Glu",
"transcript": "XM_047431121.1",
"protein_id": "XP_047287077.1",
"transcript_support_level": null,
"aa_start": 1191,
"aa_end": null,
"aa_length": 2340,
"cds_start": 3571,
"cds_end": null,
"cds_length": 7023,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431121.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCNX1",
"gene_hgnc_id": 19740,
"hgvs_c": "c.3559C>G",
"hgvs_p": "p.Gln1187Glu",
"transcript": "XM_005267423.5",
"protein_id": "XP_005267480.1",
"transcript_support_level": null,
"aa_start": 1187,
"aa_end": null,
"aa_length": 2336,
"cds_start": 3559,
"cds_end": null,
"cds_length": 7011,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005267423.5"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCNX1",
"gene_hgnc_id": 19740,
"hgvs_c": "c.3556C>G",
"hgvs_p": "p.Gln1186Glu",
"transcript": "XM_047431122.1",
"protein_id": "XP_047287078.1",
"transcript_support_level": null,
"aa_start": 1186,
"aa_end": null,
"aa_length": 2335,
"cds_start": 3556,
"cds_end": null,
"cds_length": 7008,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431122.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCNX1",
"gene_hgnc_id": 19740,
"hgvs_c": "c.3463C>G",
"hgvs_p": "p.Gln1155Glu",
"transcript": "XM_005267424.4",
"protein_id": "XP_005267481.2",
"transcript_support_level": null,
"aa_start": 1155,
"aa_end": null,
"aa_length": 2312,
"cds_start": 3463,
"cds_end": null,
"cds_length": 6939,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005267424.4"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCNX1",
"gene_hgnc_id": 19740,
"hgvs_c": "c.3463C>G",
"hgvs_p": "p.Gln1155Glu",
"transcript": "XM_047431123.1",
"protein_id": "XP_047287079.1",
"transcript_support_level": null,
"aa_start": 1155,
"aa_end": null,
"aa_length": 2304,
"cds_start": 3463,
"cds_end": null,
"cds_length": 6915,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431123.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCNX1",
"gene_hgnc_id": 19740,
"hgvs_c": "c.3256C>G",
"hgvs_p": "p.Gln1086Glu",
"transcript": "XM_005267425.5",
"protein_id": "XP_005267482.1",
"transcript_support_level": null,
"aa_start": 1086,
"aa_end": null,
"aa_length": 2243,
"cds_start": 3256,
"cds_end": null,
"cds_length": 6732,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005267425.5"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCNX1",
"gene_hgnc_id": 19740,
"hgvs_c": "c.3241C>G",
"hgvs_p": "p.Gln1081Glu",
"transcript": "XM_047431124.1",
"protein_id": "XP_047287080.1",
"transcript_support_level": null,
"aa_start": 1081,
"aa_end": null,
"aa_length": 2238,
"cds_start": 3241,
"cds_end": null,
"cds_length": 6717,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431124.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCNX1",
"gene_hgnc_id": 19740,
"hgvs_c": "c.3256C>G",
"hgvs_p": "p.Gln1086Glu",
"transcript": "XM_017021096.2",
"protein_id": "XP_016876585.1",
"transcript_support_level": null,
"aa_start": 1086,
"aa_end": null,
"aa_length": 2235,
"cds_start": 3256,
"cds_end": null,
"cds_length": 6708,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017021096.2"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCNX1",
"gene_hgnc_id": 19740,
"hgvs_c": "c.3145C>G",
"hgvs_p": "p.Gln1049Glu",
"transcript": "XM_047431125.1",
"protein_id": "XP_047287081.1",
"transcript_support_level": null,
"aa_start": 1049,
"aa_end": null,
"aa_length": 2206,
"cds_start": 3145,
"cds_end": null,
"cds_length": 6621,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431125.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCNX1",
"gene_hgnc_id": 19740,
"hgvs_c": "c.3145C>G",
"hgvs_p": "p.Gln1049Glu",
"transcript": "XM_047431126.1",
"protein_id": "XP_047287082.1",
"transcript_support_level": null,
"aa_start": 1049,
"aa_end": null,
"aa_length": 2198,
"cds_start": 3145,
"cds_end": null,
"cds_length": 6597,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431126.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCNX1",
"gene_hgnc_id": 19740,
"hgvs_c": "c.2473C>G",
"hgvs_p": "p.Gln825Glu",
"transcript": "XM_047431127.1",
"protein_id": "XP_047287083.1",
"transcript_support_level": null,
"aa_start": 825,
"aa_end": null,
"aa_length": 1982,
"cds_start": 2473,
"cds_end": null,
"cds_length": 5949,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431127.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCNX1",
"gene_hgnc_id": 19740,
"hgvs_c": "c.2155C>G",
"hgvs_p": "p.Gln719Glu",
"transcript": "XM_047431128.1",
"protein_id": "XP_047287084.1",
"transcript_support_level": null,
"aa_start": 719,
"aa_end": null,
"aa_length": 1876,
"cds_start": 2155,
"cds_end": null,
"cds_length": 5631,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431128.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCNX1",
"gene_hgnc_id": 19740,
"hgvs_c": "c.2155C>G",
"hgvs_p": "p.Gln719Glu",
"transcript": "XM_047431129.1",
"protein_id": "XP_047287085.1",
"transcript_support_level": null,
"aa_start": 719,
"aa_end": null,
"aa_length": 1868,
"cds_start": 2155,
"cds_end": null,
"cds_length": 5607,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431129.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCNX1",
"gene_hgnc_id": 19740,
"hgvs_c": "c.3574C>G",
"hgvs_p": "p.Gln1192Glu",
"transcript": "XM_005267427.5",
"protein_id": "XP_005267484.1",
"transcript_support_level": null,
"aa_start": 1192,
"aa_end": null,
"aa_length": 1515,
"cds_start": 3574,
"cds_end": null,
"cds_length": 4548,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005267427.5"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCNX1",
"gene_hgnc_id": 19740,
"hgvs_c": "c.3574C>G",
"hgvs_p": "p.Gln1192Glu",
"transcript": "XM_047431130.1",
"protein_id": "XP_047287086.1",
"transcript_support_level": null,
"aa_start": 1192,
"aa_end": null,
"aa_length": 1469,
"cds_start": 3574,
"cds_end": null,
"cds_length": 4410,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431130.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCNX1",
"gene_hgnc_id": 19740,
"hgvs_c": "c.904C>G",
"hgvs_p": "p.Gln302Glu",
"transcript": "XM_047431131.1",
"protein_id": "XP_047287087.1",
"transcript_support_level": null,
"aa_start": 302,
"aa_end": null,
"aa_length": 1459,
"cds_start": 904,
"cds_end": null,
"cds_length": 4380,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431131.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCNX1",
"gene_hgnc_id": 19740,
"hgvs_c": "c.796C>G",
"hgvs_p": "p.Gln266Glu",
"transcript": "XM_006720082.4",
"protein_id": "XP_006720145.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 1423,
"cds_start": 796,
"cds_end": null,
"cds_length": 4272,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006720082.4"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCNX1",
"gene_hgnc_id": 19740,
"hgvs_c": "c.790C>G",
"hgvs_p": "p.Gln264Glu",
"transcript": "XM_047431132.1",
"protein_id": "XP_047287088.1",
"transcript_support_level": null,
"aa_start": 264,
"aa_end": null,
"aa_length": 1421,
"cds_start": 790,
"cds_end": null,
"cds_length": 4266,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431132.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCNX1",
"gene_hgnc_id": 19740,
"hgvs_c": "c.796C>G",
"hgvs_p": "p.Gln266Glu",
"transcript": "XM_047431133.1",
"protein_id": "XP_047287089.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 1415,
"cds_start": 796,
"cds_end": null,
"cds_length": 4248,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431133.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCNX1",
"gene_hgnc_id": 19740,
"hgvs_c": "c.790C>G",
"hgvs_p": "p.Gln264Glu",
"transcript": "XM_047431134.1",
"protein_id": "XP_047287090.1",
"transcript_support_level": null,
"aa_start": 264,
"aa_end": null,
"aa_length": 1413,
"cds_start": 790,
"cds_end": null,
"cds_length": 4242,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431134.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCNX1",
"gene_hgnc_id": 19740,
"hgvs_c": "n.3966C>G",
"hgvs_p": null,
"transcript": "XR_007063992.1",
"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": "XR_007063992.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCNX1",
"gene_hgnc_id": 19740,
"hgvs_c": "n.3966C>G",
"hgvs_p": null,
"transcript": "XR_245673.5",
"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": "XR_245673.5"
}
],
"gene_symbol": "PCNX1",
"gene_hgnc_id": 19740,
"dbsnp": "rs201464749",
"frequency_reference_population": 0.000045909754,
"hom_count_reference_population": 0,
"allele_count_reference_population": 73,
"gnomad_exomes_af": 0.0000445109,
"gnomad_genomes_af": 0.0000591226,
"gnomad_exomes_ac": 64,
"gnomad_genomes_ac": 9,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.16174128651618958,
"computational_prediction_selected": "Benign",
"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": 0.1089,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.3,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.376,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_014982.3",
"gene_symbol": "PCNX1",
"hgnc_id": 19740,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.3574C>G",
"hgvs_p": "p.Gln1192Glu"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}