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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: 12-120214923-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=120214923&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 120214923,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001385981.1",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PXN",
"gene_hgnc_id": 9718,
"hgvs_c": "c.2650C>T",
"hgvs_p": "p.Arg884Trp",
"transcript": "NM_001385981.1",
"protein_id": "NP_001372910.1",
"transcript_support_level": null,
"aa_start": 884,
"aa_end": null,
"aa_length": 1081,
"cds_start": 2650,
"cds_end": null,
"cds_length": 3246,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000637617.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385981.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PXN",
"gene_hgnc_id": 9718,
"hgvs_c": "c.2650C>T",
"hgvs_p": "p.Arg884Trp",
"transcript": "ENST00000637617.2",
"protein_id": "ENSP00000489840.1",
"transcript_support_level": 5,
"aa_start": 884,
"aa_end": null,
"aa_length": 1081,
"cds_start": 2650,
"cds_end": null,
"cds_length": 3246,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001385981.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000637617.2"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PXN",
"gene_hgnc_id": 9718,
"hgvs_c": "c.1180C>T",
"hgvs_p": "p.Arg394Trp",
"transcript": "ENST00000228307.11",
"protein_id": "ENSP00000228307.7",
"transcript_support_level": 1,
"aa_start": 394,
"aa_end": null,
"aa_length": 591,
"cds_start": 1180,
"cds_end": null,
"cds_length": 1776,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000228307.11"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PXN",
"gene_hgnc_id": 9718,
"hgvs_c": "c.1078C>T",
"hgvs_p": "p.Arg360Trp",
"transcript": "ENST00000424649.6",
"protein_id": "ENSP00000391283.2",
"transcript_support_level": 1,
"aa_start": 360,
"aa_end": null,
"aa_length": 557,
"cds_start": 1078,
"cds_end": null,
"cds_length": 1674,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000424649.6"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PXN",
"gene_hgnc_id": 9718,
"hgvs_c": "c.679C>T",
"hgvs_p": "p.Arg227Trp",
"transcript": "ENST00000458477.6",
"protein_id": "ENSP00000395536.2",
"transcript_support_level": 1,
"aa_start": 227,
"aa_end": null,
"aa_length": 424,
"cds_start": 679,
"cds_end": null,
"cds_length": 1275,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000458477.6"
},
{
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PXN",
"gene_hgnc_id": 9718,
"hgvs_c": "n.1209C>T",
"hgvs_p": null,
"transcript": "ENST00000538144.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000538144.5"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PXN",
"gene_hgnc_id": 9718,
"hgvs_c": "c.2911C>T",
"hgvs_p": "p.Arg971Trp",
"transcript": "ENST00000967075.1",
"protein_id": "ENSP00000637134.1",
"transcript_support_level": null,
"aa_start": 971,
"aa_end": null,
"aa_length": 1168,
"cds_start": 2911,
"cds_end": null,
"cds_length": 3507,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967075.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PXN",
"gene_hgnc_id": 9718,
"hgvs_c": "c.2644C>T",
"hgvs_p": "p.Arg882Trp",
"transcript": "ENST00000884794.1",
"protein_id": "ENSP00000554853.1",
"transcript_support_level": null,
"aa_start": 882,
"aa_end": null,
"aa_length": 1079,
"cds_start": 2644,
"cds_end": null,
"cds_length": 3240,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884794.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PXN",
"gene_hgnc_id": 9718,
"hgvs_c": "c.2518C>T",
"hgvs_p": "p.Arg840Trp",
"transcript": "ENST00000884793.1",
"protein_id": "ENSP00000554852.1",
"transcript_support_level": null,
"aa_start": 840,
"aa_end": null,
"aa_length": 1037,
"cds_start": 2518,
"cds_end": null,
"cds_length": 3114,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884793.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PXN",
"gene_hgnc_id": 9718,
"hgvs_c": "c.2374C>T",
"hgvs_p": "p.Arg792Trp",
"transcript": "NM_001385982.1",
"protein_id": "NP_001372911.1",
"transcript_support_level": null,
"aa_start": 792,
"aa_end": null,
"aa_length": 989,
"cds_start": 2374,
"cds_end": null,
"cds_length": 2970,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385982.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PXN",
"gene_hgnc_id": 9718,
"hgvs_c": "c.2374C>T",
"hgvs_p": "p.Arg792Trp",
"transcript": "ENST00000884795.1",
"protein_id": "ENSP00000554854.1",
"transcript_support_level": null,
"aa_start": 792,
"aa_end": null,
"aa_length": 989,
"cds_start": 2374,
"cds_end": null,
"cds_length": 2970,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884795.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PXN",
"gene_hgnc_id": 9718,
"hgvs_c": "c.2368C>T",
"hgvs_p": "p.Arg790Trp",
"transcript": "NM_001385983.1",
"protein_id": "NP_001372912.1",
"transcript_support_level": null,
"aa_start": 790,
"aa_end": null,
"aa_length": 987,
"cds_start": 2368,
"cds_end": null,
"cds_length": 2964,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385983.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PXN",
"gene_hgnc_id": 9718,
"hgvs_c": "c.2368C>T",
"hgvs_p": "p.Arg790Trp",
"transcript": "ENST00000884802.1",
"protein_id": "ENSP00000554861.1",
"transcript_support_level": null,
"aa_start": 790,
"aa_end": null,
"aa_length": 987,
"cds_start": 2368,
"cds_end": null,
"cds_length": 2964,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884802.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PXN",
"gene_hgnc_id": 9718,
"hgvs_c": "c.2209C>T",
"hgvs_p": "p.Arg737Trp",
"transcript": "ENST00000967074.1",
"protein_id": "ENSP00000637133.1",
"transcript_support_level": null,
"aa_start": 737,
"aa_end": null,
"aa_length": 934,
"cds_start": 2209,
"cds_end": null,
"cds_length": 2805,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967074.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PXN",
"gene_hgnc_id": 9718,
"hgvs_c": "c.2107C>T",
"hgvs_p": "p.Arg703Trp",
"transcript": "NM_001385984.1",
"protein_id": "NP_001372913.1",
"transcript_support_level": null,
"aa_start": 703,
"aa_end": null,
"aa_length": 900,
"cds_start": 2107,
"cds_end": null,
"cds_length": 2703,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385984.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PXN",
"gene_hgnc_id": 9718,
"hgvs_c": "c.2065C>T",
"hgvs_p": "p.Arg689Trp",
"transcript": "ENST00000967076.1",
"protein_id": "ENSP00000637135.1",
"transcript_support_level": null,
"aa_start": 689,
"aa_end": null,
"aa_length": 886,
"cds_start": 2065,
"cds_end": null,
"cds_length": 2661,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967076.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PXN",
"gene_hgnc_id": 9718,
"hgvs_c": "c.1963C>T",
"hgvs_p": "p.Arg655Trp",
"transcript": "NM_001385985.1",
"protein_id": "NP_001372914.1",
"transcript_support_level": null,
"aa_start": 655,
"aa_end": null,
"aa_length": 852,
"cds_start": 1963,
"cds_end": null,
"cds_length": 2559,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385985.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PXN",
"gene_hgnc_id": 9718,
"hgvs_c": "c.1963C>T",
"hgvs_p": "p.Arg655Trp",
"transcript": "ENST00000884799.1",
"protein_id": "ENSP00000554858.1",
"transcript_support_level": null,
"aa_start": 655,
"aa_end": null,
"aa_length": 852,
"cds_start": 1963,
"cds_end": null,
"cds_length": 2559,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884799.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PXN",
"gene_hgnc_id": 9718,
"hgvs_c": "c.1633C>T",
"hgvs_p": "p.Arg545Trp",
"transcript": "ENST00000916171.1",
"protein_id": "ENSP00000586230.1",
"transcript_support_level": null,
"aa_start": 545,
"aa_end": null,
"aa_length": 742,
"cds_start": 1633,
"cds_end": null,
"cds_length": 2229,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916171.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PXN",
"gene_hgnc_id": 9718,
"hgvs_c": "c.1627C>T",
"hgvs_p": "p.Arg543Trp",
"transcript": "NM_001385986.1",
"protein_id": "NP_001372915.1",
"transcript_support_level": null,
"aa_start": 543,
"aa_end": null,
"aa_length": 740,
"cds_start": 1627,
"cds_end": null,
"cds_length": 2223,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385986.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PXN",
"gene_hgnc_id": 9718,
"hgvs_c": "c.1627C>T",
"hgvs_p": "p.Arg543Trp",
"transcript": "ENST00000916174.1",
"protein_id": "ENSP00000586233.1",
"transcript_support_level": null,
"aa_start": 543,
"aa_end": null,
"aa_length": 740,
"cds_start": 1627,
"cds_end": null,
"cds_length": 2223,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916174.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PXN",
"gene_hgnc_id": 9718,
"hgvs_c": "c.1489C>T",
"hgvs_p": "p.Arg497Trp",
"transcript": "NM_001385987.1",
"protein_id": "NP_001372916.1",
"transcript_support_level": null,
"aa_start": 497,
"aa_end": null,
"aa_length": 694,
"cds_start": 1489,
"cds_end": null,
"cds_length": 2085,
"cdna_start": null,
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"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": "ENST00000550795.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PXN",
"gene_hgnc_id": 9718,
"hgvs_c": "n.*1093C>T",
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"transcript": "ENST00000637624.1",
"protein_id": "ENSP00000490896.1",
"transcript_support_level": 2,
"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": "ENST00000637624.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PXN",
"gene_hgnc_id": 9718,
"hgvs_c": "n.2911C>T",
"hgvs_p": null,
"transcript": "XR_002957365.2",
"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_002957365.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PXN",
"gene_hgnc_id": 9718,
"hgvs_c": "n.*788C>T",
"hgvs_p": null,
"transcript": "ENST00000323871.9",
"protein_id": "ENSP00000489977.1",
"transcript_support_level": 2,
"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": "ENST00000323871.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PXN",
"gene_hgnc_id": 9718,
"hgvs_c": "n.*1093C>T",
"hgvs_p": null,
"transcript": "ENST00000637624.1",
"protein_id": "ENSP00000490896.1",
"transcript_support_level": 2,
"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": "ENST00000637624.1"
}
],
"gene_symbol": "PXN",
"gene_hgnc_id": 9718,
"dbsnp": "rs775978522",
"frequency_reference_population": 0.00007931256,
"hom_count_reference_population": 0,
"allele_count_reference_population": 128,
"gnomad_exomes_af": 0.0000848334,
"gnomad_genomes_af": 0.0000262847,
"gnomad_exomes_ac": 124,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8076473474502563,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.746,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.8845,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.25,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 6.169,
"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": -3,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PP3,BS2",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 4,
"pathogenic_score": 1,
"criteria": [
"PP3",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_001385981.1",
"gene_symbol": "PXN",
"hgnc_id": 9718,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2650C>T",
"hgvs_p": "p.Arg884Trp"
}
],
"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
}