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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: 16-89562963-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=89562963&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 89562963,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_000977.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL13",
"gene_hgnc_id": 10303,
"hgvs_c": "c.557G>C",
"hgvs_p": "p.Arg186Pro",
"transcript": "NM_000977.4",
"protein_id": "NP_000968.2",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 211,
"cds_start": 557,
"cds_end": null,
"cds_length": 636,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000311528.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000977.4"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL13",
"gene_hgnc_id": 10303,
"hgvs_c": "c.557G>C",
"hgvs_p": "p.Arg186Pro",
"transcript": "ENST00000311528.10",
"protein_id": "ENSP00000307889.5",
"transcript_support_level": 1,
"aa_start": 186,
"aa_end": null,
"aa_length": 211,
"cds_start": 557,
"cds_end": null,
"cds_length": 636,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000977.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000311528.10"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL13",
"gene_hgnc_id": 10303,
"hgvs_c": "c.557G>C",
"hgvs_p": "p.Arg186Pro",
"transcript": "ENST00000393099.4",
"protein_id": "ENSP00000376811.3",
"transcript_support_level": 1,
"aa_start": 186,
"aa_end": null,
"aa_length": 211,
"cds_start": 557,
"cds_end": null,
"cds_length": 636,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000393099.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"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": "RPL13",
"gene_hgnc_id": 10303,
"hgvs_c": "n.*205G>C",
"hgvs_p": null,
"transcript": "ENST00000562879.5",
"protein_id": "ENSP00000457174.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000562879.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL13",
"gene_hgnc_id": 10303,
"hgvs_c": "n.*205G>C",
"hgvs_p": null,
"transcript": "ENST00000562879.5",
"protein_id": "ENSP00000457174.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000562879.5"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL13",
"gene_hgnc_id": 10303,
"hgvs_c": "c.557G>C",
"hgvs_p": "p.Arg186Pro",
"transcript": "NM_033251.2",
"protein_id": "NP_150254.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 211,
"cds_start": 557,
"cds_end": null,
"cds_length": 636,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_033251.2"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL13",
"gene_hgnc_id": 10303,
"hgvs_c": "c.557G>C",
"hgvs_p": "p.Arg186Pro",
"transcript": "ENST00000567815.5",
"protein_id": "ENSP00000455009.1",
"transcript_support_level": 3,
"aa_start": 186,
"aa_end": null,
"aa_length": 211,
"cds_start": 557,
"cds_end": null,
"cds_length": 636,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000567815.5"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL13",
"gene_hgnc_id": 10303,
"hgvs_c": "c.557G>C",
"hgvs_p": "p.Arg186Pro",
"transcript": "ENST00000902246.1",
"protein_id": "ENSP00000572305.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 211,
"cds_start": 557,
"cds_end": null,
"cds_length": 636,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902246.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL13",
"gene_hgnc_id": 10303,
"hgvs_c": "c.557G>C",
"hgvs_p": "p.Arg186Pro",
"transcript": "ENST00000935774.1",
"protein_id": "ENSP00000605833.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 211,
"cds_start": 557,
"cds_end": null,
"cds_length": 636,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935774.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL13",
"gene_hgnc_id": 10303,
"hgvs_c": "c.557G>C",
"hgvs_p": "p.Arg186Pro",
"transcript": "ENST00000935779.1",
"protein_id": "ENSP00000605838.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 211,
"cds_start": 557,
"cds_end": null,
"cds_length": 636,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935779.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL13",
"gene_hgnc_id": 10303,
"hgvs_c": "c.557G>C",
"hgvs_p": "p.Arg186Pro",
"transcript": "ENST00000971043.1",
"protein_id": "ENSP00000641102.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 211,
"cds_start": 557,
"cds_end": null,
"cds_length": 636,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971043.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL13",
"gene_hgnc_id": 10303,
"hgvs_c": "c.548G>C",
"hgvs_p": "p.Arg183Pro",
"transcript": "ENST00000902248.1",
"protein_id": "ENSP00000572307.1",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 208,
"cds_start": 548,
"cds_end": null,
"cds_length": 627,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902248.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL13",
"gene_hgnc_id": 10303,
"hgvs_c": "c.548G>C",
"hgvs_p": "p.Arg183Pro",
"transcript": "ENST00000935773.1",
"protein_id": "ENSP00000605832.1",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 208,
"cds_start": 548,
"cds_end": null,
"cds_length": 627,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935773.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL13",
"gene_hgnc_id": 10303,
"hgvs_c": "c.539G>C",
"hgvs_p": "p.Arg180Pro",
"transcript": "ENST00000902247.1",
"protein_id": "ENSP00000572306.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 205,
"cds_start": 539,
"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": "ENST00000902247.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL13",
"gene_hgnc_id": 10303,
"hgvs_c": "c.539G>C",
"hgvs_p": "p.Arg180Pro",
"transcript": "ENST00000902249.1",
"protein_id": "ENSP00000572308.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 205,
"cds_start": 539,
"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": "ENST00000902249.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL13",
"gene_hgnc_id": 10303,
"hgvs_c": "c.539G>C",
"hgvs_p": "p.Arg180Pro",
"transcript": "ENST00000935776.1",
"protein_id": "ENSP00000605835.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 205,
"cds_start": 539,
"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": "ENST00000935776.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL13",
"gene_hgnc_id": 10303,
"hgvs_c": "c.500G>C",
"hgvs_p": "p.Arg167Pro",
"transcript": "ENST00000935777.1",
"protein_id": "ENSP00000605836.1",
"transcript_support_level": null,
"aa_start": 167,
"aa_end": null,
"aa_length": 192,
"cds_start": 500,
"cds_end": null,
"cds_length": 579,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935777.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL13",
"gene_hgnc_id": 10303,
"hgvs_c": "c.500G>C",
"hgvs_p": "p.Arg167Pro",
"transcript": "ENST00000971042.1",
"protein_id": "ENSP00000641101.1",
"transcript_support_level": null,
"aa_start": 167,
"aa_end": null,
"aa_length": 192,
"cds_start": 500,
"cds_end": null,
"cds_length": 579,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971042.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL13",
"gene_hgnc_id": 10303,
"hgvs_c": "c.497G>C",
"hgvs_p": "p.Arg166Pro",
"transcript": "ENST00000935775.1",
"protein_id": "ENSP00000605834.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 191,
"cds_start": 497,
"cds_end": null,
"cds_length": 576,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935775.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL13",
"gene_hgnc_id": 10303,
"hgvs_c": "c.416G>C",
"hgvs_p": "p.Arg139Pro",
"transcript": "NM_001243131.1",
"protein_id": "NP_001230060.1",
"transcript_support_level": null,
"aa_start": 139,
"aa_end": null,
"aa_length": 164,
"cds_start": 416,
"cds_end": null,
"cds_length": 495,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001243131.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL13",
"gene_hgnc_id": 10303,
"hgvs_c": "c.416G>C",
"hgvs_p": "p.Arg139Pro",
"transcript": "ENST00000452368.7",
"protein_id": "ENSP00000438959.2",
"transcript_support_level": 2,
"aa_start": 139,
"aa_end": null,
"aa_length": 164,
"cds_start": 416,
"cds_end": null,
"cds_length": 495,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000452368.7"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL13",
"gene_hgnc_id": 10303,
"hgvs_c": "c.410G>C",
"hgvs_p": "p.Arg137Pro",
"transcript": "ENST00000935780.1",
"protein_id": "ENSP00000605839.1",
"transcript_support_level": null,
"aa_start": 137,
"aa_end": null,
"aa_length": 162,
"cds_start": 410,
"cds_end": null,
"cds_length": 489,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935780.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
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"gene_symbol": "RPL13",
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"hgvs_p": "p.Arg128Pro",
"transcript": "ENST00000935772.1",
"protein_id": "ENSP00000605831.1",
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"cdna_length": null,
"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000935772.1"
},
{
"aa_ref": "R",
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"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
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"exon_count": 5,
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"gene_symbol": "RPL13",
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"hgvs_c": "c.359G>C",
"hgvs_p": "p.Arg120Pro",
"transcript": "ENST00000935778.1",
"protein_id": "ENSP00000605837.1",
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"aa_start": 120,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935778.1"
},
{
"aa_ref": "R",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
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"exon_count": 2,
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"gene_symbol": "RPL13",
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"hgvs_c": "c.155G>C",
"hgvs_p": "p.Arg52Pro",
"transcript": "ENST00000472354.1",
"protein_id": "ENSP00000462380.1",
"transcript_support_level": 3,
"aa_start": 52,
"aa_end": null,
"aa_length": 77,
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"cds_end": null,
"cds_length": 234,
"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000472354.1"
},
{
"aa_ref": "R",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL13",
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"hgvs_c": "c.95G>C",
"hgvs_p": "p.Arg32Pro",
"transcript": "ENST00000563270.5",
"protein_id": "ENSP00000457686.1",
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"aa_start": 32,
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"biotype": "protein_coding",
"feature": "ENST00000563270.5"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
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"exon_count": 4,
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"gene_symbol": "RPL13",
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"biotype": "retained_intron",
"feature": "ENST00000399461.8"
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
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"exon_count": 5,
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"gene_symbol": "RPL13",
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"transcript": "ENST00000484610.5",
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"biotype": "retained_intron",
"feature": "ENST00000484610.5"
},
{
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"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
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"exon_count": 1,
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"gene_symbol": "RPL13",
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"hgvs_c": "n.2287G>C",
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"transcript": "ENST00000563749.1",
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"biotype": "retained_intron",
"feature": "ENST00000563749.1"
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
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"exon_count": 2,
"intron_rank": null,
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"gene_symbol": "RPL13",
"gene_hgnc_id": 10303,
"hgvs_c": "n.332G>C",
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"transcript": "ENST00000570149.1",
"protein_id": null,
"transcript_support_level": 2,
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"aa_end": null,
"aa_length": null,
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"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000570149.1"
}
],
"gene_symbol": "RPL13",
"gene_hgnc_id": 10303,
"dbsnp": "rs139252401",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8801071643829346,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.631,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9957,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.3,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.877,
"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": 7,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM1,PM2,PP2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 7,
"benign_score": 0,
"pathogenic_score": 7,
"criteria": [
"PM1",
"PM2",
"PP2",
"PP3_Moderate"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_000977.4",
"gene_symbol": "RPL13",
"hgnc_id": 10303,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.557G>C",
"hgvs_p": "p.Arg186Pro"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}