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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: 11-811634-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=811634&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 811634,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001004.4",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPLP2",
"gene_hgnc_id": 10377,
"hgvs_c": "c.161T>C",
"hgvs_p": "p.Val54Ala",
"transcript": "NM_001004.4",
"protein_id": "NP_000995.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 115,
"cds_start": 161,
"cds_end": null,
"cds_length": 348,
"cdna_start": 235,
"cdna_end": null,
"cdna_length": 462,
"mane_select": "ENST00000321153.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001004.4"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPLP2",
"gene_hgnc_id": 10377,
"hgvs_c": "c.161T>C",
"hgvs_p": "p.Val54Ala",
"transcript": "ENST00000321153.9",
"protein_id": "ENSP00000322419.4",
"transcript_support_level": 1,
"aa_start": 54,
"aa_end": null,
"aa_length": 115,
"cds_start": 161,
"cds_end": null,
"cds_length": 348,
"cdna_start": 235,
"cdna_end": null,
"cdna_length": 462,
"mane_select": "NM_001004.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000321153.9"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPLP2",
"gene_hgnc_id": 10377,
"hgvs_c": "c.161T>C",
"hgvs_p": "p.Val54Ala",
"transcript": "ENST00000530797.6",
"protein_id": "ENSP00000431240.1",
"transcript_support_level": 1,
"aa_start": 54,
"aa_end": null,
"aa_length": 115,
"cds_start": 161,
"cds_end": null,
"cds_length": 348,
"cdna_start": 1100,
"cdna_end": null,
"cdna_length": 1325,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000530797.6"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPLP2",
"gene_hgnc_id": 10377,
"hgvs_c": "c.161T>C",
"hgvs_p": "p.Val54Ala",
"transcript": "ENST00000929548.1",
"protein_id": "ENSP00000599607.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 125,
"cds_start": 161,
"cds_end": null,
"cds_length": 378,
"cdna_start": 240,
"cdna_end": null,
"cdna_length": 499,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929548.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPLP2",
"gene_hgnc_id": 10377,
"hgvs_c": "c.182T>C",
"hgvs_p": "p.Val61Ala",
"transcript": "ENST00000852318.1",
"protein_id": "ENSP00000522377.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 122,
"cds_start": 182,
"cds_end": null,
"cds_length": 369,
"cdna_start": 296,
"cdna_end": null,
"cdna_length": 521,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852318.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPLP2",
"gene_hgnc_id": 10377,
"hgvs_c": "c.161T>C",
"hgvs_p": "p.Val54Ala",
"transcript": "ENST00000929550.1",
"protein_id": "ENSP00000599609.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 120,
"cds_start": 161,
"cds_end": null,
"cds_length": 363,
"cdna_start": 235,
"cdna_end": null,
"cdna_length": 481,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929550.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPLP2",
"gene_hgnc_id": 10377,
"hgvs_c": "c.161T>C",
"hgvs_p": "p.Val54Ala",
"transcript": "ENST00000718237.1",
"protein_id": "ENSP00000520682.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 115,
"cds_start": 161,
"cds_end": null,
"cds_length": 348,
"cdna_start": 286,
"cdna_end": null,
"cdna_length": 520,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000718237.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPLP2",
"gene_hgnc_id": 10377,
"hgvs_c": "c.161T>C",
"hgvs_p": "p.Val54Ala",
"transcript": "ENST00000852320.1",
"protein_id": "ENSP00000522379.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 115,
"cds_start": 161,
"cds_end": null,
"cds_length": 348,
"cdna_start": 243,
"cdna_end": null,
"cdna_length": 468,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852320.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPLP2",
"gene_hgnc_id": 10377,
"hgvs_c": "c.161T>C",
"hgvs_p": "p.Val54Ala",
"transcript": "ENST00000929545.1",
"protein_id": "ENSP00000599604.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 115,
"cds_start": 161,
"cds_end": null,
"cds_length": 348,
"cdna_start": 278,
"cdna_end": null,
"cdna_length": 509,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929545.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPLP2",
"gene_hgnc_id": 10377,
"hgvs_c": "c.161T>C",
"hgvs_p": "p.Val54Ala",
"transcript": "ENST00000929547.1",
"protein_id": "ENSP00000599606.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 115,
"cds_start": 161,
"cds_end": null,
"cds_length": 348,
"cdna_start": 289,
"cdna_end": null,
"cdna_length": 520,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929547.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPLP2",
"gene_hgnc_id": 10377,
"hgvs_c": "c.161T>C",
"hgvs_p": "p.Val54Ala",
"transcript": "ENST00000929551.1",
"protein_id": "ENSP00000599610.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 115,
"cds_start": 161,
"cds_end": null,
"cds_length": 348,
"cdna_start": 282,
"cdna_end": null,
"cdna_length": 508,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929551.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPLP2",
"gene_hgnc_id": 10377,
"hgvs_c": "c.161T>C",
"hgvs_p": "p.Val54Ala",
"transcript": "ENST00000960563.1",
"protein_id": "ENSP00000630622.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 115,
"cds_start": 161,
"cds_end": null,
"cds_length": 348,
"cdna_start": 1676,
"cdna_end": null,
"cdna_length": 1899,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960563.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPLP2",
"gene_hgnc_id": 10377,
"hgvs_c": "c.161T>C",
"hgvs_p": "p.Val54Ala",
"transcript": "ENST00000852319.1",
"protein_id": "ENSP00000522378.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 114,
"cds_start": 161,
"cds_end": null,
"cds_length": 345,
"cdna_start": 251,
"cdna_end": null,
"cdna_length": 481,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852319.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPLP2",
"gene_hgnc_id": 10377,
"hgvs_c": "c.161T>C",
"hgvs_p": "p.Val54Ala",
"transcript": "ENST00000960564.1",
"protein_id": "ENSP00000630623.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 114,
"cds_start": 161,
"cds_end": null,
"cds_length": 345,
"cdna_start": 429,
"cdna_end": null,
"cdna_length": 652,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960564.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPLP2",
"gene_hgnc_id": 10377,
"hgvs_c": "c.149T>C",
"hgvs_p": "p.Val50Ala",
"transcript": "ENST00000929546.1",
"protein_id": "ENSP00000599605.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 111,
"cds_start": 149,
"cds_end": null,
"cds_length": 336,
"cdna_start": 246,
"cdna_end": null,
"cdna_length": 477,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929546.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPLP2",
"gene_hgnc_id": 10377,
"hgvs_c": "c.161T>C",
"hgvs_p": "p.Val54Ala",
"transcript": "ENST00000929543.1",
"protein_id": "ENSP00000599602.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 110,
"cds_start": 161,
"cds_end": null,
"cds_length": 333,
"cdna_start": 284,
"cdna_end": null,
"cdna_length": 503,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929543.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPLP2",
"gene_hgnc_id": 10377,
"hgvs_c": "c.161T>C",
"hgvs_p": "p.Val54Ala",
"transcript": "ENST00000929542.1",
"protein_id": "ENSP00000599601.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 109,
"cds_start": 161,
"cds_end": null,
"cds_length": 330,
"cdna_start": 311,
"cdna_end": null,
"cdna_length": 528,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929542.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPLP2",
"gene_hgnc_id": 10377,
"hgvs_c": "c.161T>C",
"hgvs_p": "p.Val54Ala",
"transcript": "ENST00000929541.1",
"protein_id": "ENSP00000599600.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 108,
"cds_start": 161,
"cds_end": null,
"cds_length": 327,
"cdna_start": 603,
"cdna_end": null,
"cdna_length": 816,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929541.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPLP2",
"gene_hgnc_id": 10377,
"hgvs_c": "c.125T>C",
"hgvs_p": "p.Val42Ala",
"transcript": "ENST00000929549.1",
"protein_id": "ENSP00000599608.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 102,
"cds_start": 125,
"cds_end": null,
"cds_length": 309,
"cdna_start": 204,
"cdna_end": null,
"cdna_length": 428,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929549.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPLP2",
"gene_hgnc_id": 10377,
"hgvs_c": "c.89T>C",
"hgvs_p": "p.Val30Ala",
"transcript": "ENST00000530398.1",
"protein_id": "ENSP00000433443.1",
"transcript_support_level": 3,
"aa_start": 30,
"aa_end": null,
"aa_length": 91,
"cds_start": 89,
"cds_end": null,
"cds_length": 276,
"cdna_start": 91,
"cdna_end": null,
"cdna_length": 313,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000530398.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPLP2",
"gene_hgnc_id": 10377,
"hgvs_c": "c.161T>C",
"hgvs_p": "p.Val54Ala",
"transcript": "ENST00000929544.1",
"protein_id": "ENSP00000599603.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 82,
"cds_start": 161,
"cds_end": null,
"cds_length": 249,
"cdna_start": 269,
"cdna_end": null,
"cdna_length": 401,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929544.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPLP2",
"gene_hgnc_id": 10377,
"hgvs_c": "n.393T>C",
"hgvs_p": null,
"transcript": "ENST00000524867.1",
"protein_id": null,
"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": 598,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000524867.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPLP2",
"gene_hgnc_id": 10377,
"hgvs_c": "n.263T>C",
"hgvs_p": null,
"transcript": "ENST00000525722.1",
"protein_id": null,
"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": 489,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000525722.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPLP2",
"gene_hgnc_id": 10377,
"hgvs_c": "n.138T>C",
"hgvs_p": null,
"transcript": "ENST00000526222.5",
"protein_id": null,
"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": 350,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000526222.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPLP2",
"gene_hgnc_id": 10377,
"hgvs_c": "n.122T>C",
"hgvs_p": null,
"transcript": "ENST00000532004.5",
"protein_id": null,
"transcript_support_level": 3,
"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": 353,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000532004.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNORA52",
"gene_hgnc_id": 32645,
"hgvs_c": "n.-47T>C",
"hgvs_p": null,
"transcript": "ENST00000362915.1",
"protein_id": null,
"transcript_support_level": 6,
"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": 134,
"mane_select": null,
"mane_plus": null,
"biotype": "snoRNA",
"feature": "ENST00000362915.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNORA52",
"gene_hgnc_id": 32645,
"hgvs_c": "n.-47T>C",
"hgvs_p": null,
"transcript": "NR_002585.1",
"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": 134,
"mane_select": null,
"mane_plus": null,
"biotype": "snoRNA",
"feature": "NR_002585.1"
}
],
"gene_symbol": "RPLP2",
"gene_hgnc_id": 10377,
"dbsnp": "rs1262053673",
"frequency_reference_population": 0.0000012390683,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 6.84048e-7,
"gnomad_genomes_af": 0.00000656901,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9410600662231445,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.874,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9018,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.25,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.617,
"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": 6,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong",
"acmg_by_gene": [
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_001004.4",
"gene_symbol": "RPLP2",
"hgnc_id": 10377,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.161T>C",
"hgvs_p": "p.Val54Ala"
},
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "NR_002585.1",
"gene_symbol": "SNORA52",
"hgnc_id": 32645,
"effects": [
"upstream_gene_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.-47T>C",
"hgvs_p": null
}
],
"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
}