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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: 12-121888894-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=121888894&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 121888894,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_002813.7",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMD9",
"gene_hgnc_id": 9567,
"hgvs_c": "c.38C>T",
"hgvs_p": "p.Ser13Leu",
"transcript": "NM_002813.7",
"protein_id": "NP_002804.2",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 223,
"cds_start": 38,
"cds_end": null,
"cds_length": 672,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000541212.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002813.7"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMD9",
"gene_hgnc_id": 9567,
"hgvs_c": "c.38C>T",
"hgvs_p": "p.Ser13Leu",
"transcript": "ENST00000541212.6",
"protein_id": "ENSP00000440485.1",
"transcript_support_level": 1,
"aa_start": 13,
"aa_end": null,
"aa_length": 223,
"cds_start": 38,
"cds_end": null,
"cds_length": 672,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002813.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000541212.6"
},
{
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMD9",
"gene_hgnc_id": 9567,
"hgvs_c": "n.38C>T",
"hgvs_p": null,
"transcript": "ENST00000537407.5",
"protein_id": "ENSP00000445058.1",
"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": "ENST00000537407.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000256950",
"gene_hgnc_id": null,
"hgvs_c": "n.38C>T",
"hgvs_p": null,
"transcript": "ENST00000546333.1",
"protein_id": "ENSP00000477146.1",
"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": "ENST00000546333.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMD9",
"gene_hgnc_id": 9567,
"hgvs_c": "c.38C>T",
"hgvs_p": "p.Ser13Leu",
"transcript": "ENST00000858884.1",
"protein_id": "ENSP00000528943.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 247,
"cds_start": 38,
"cds_end": null,
"cds_length": 744,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858884.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMD9",
"gene_hgnc_id": 9567,
"hgvs_c": "c.38C>T",
"hgvs_p": "p.Ser13Leu",
"transcript": "ENST00000970345.1",
"protein_id": "ENSP00000640404.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 246,
"cds_start": 38,
"cds_end": null,
"cds_length": 741,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970345.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMD9",
"gene_hgnc_id": 9567,
"hgvs_c": "c.38C>T",
"hgvs_p": "p.Ser13Leu",
"transcript": "ENST00000922353.1",
"protein_id": "ENSP00000592412.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 232,
"cds_start": 38,
"cds_end": null,
"cds_length": 699,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922353.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMD9",
"gene_hgnc_id": 9567,
"hgvs_c": "c.38C>T",
"hgvs_p": "p.Ser13Leu",
"transcript": "ENST00000922351.1",
"protein_id": "ENSP00000592410.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 231,
"cds_start": 38,
"cds_end": null,
"cds_length": 696,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922351.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMD9",
"gene_hgnc_id": 9567,
"hgvs_c": "c.38C>T",
"hgvs_p": "p.Ser13Leu",
"transcript": "ENST00000858885.1",
"protein_id": "ENSP00000528944.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 228,
"cds_start": 38,
"cds_end": null,
"cds_length": 687,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858885.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMD9",
"gene_hgnc_id": 9567,
"hgvs_c": "c.38C>T",
"hgvs_p": "p.Ser13Leu",
"transcript": "ENST00000858887.1",
"protein_id": "ENSP00000528946.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 225,
"cds_start": 38,
"cds_end": null,
"cds_length": 678,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858887.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMD9",
"gene_hgnc_id": 9567,
"hgvs_c": "c.38C>T",
"hgvs_p": "p.Ser13Leu",
"transcript": "ENST00000261817.6",
"protein_id": "ENSP00000261817.2",
"transcript_support_level": 2,
"aa_start": 13,
"aa_end": null,
"aa_length": 222,
"cds_start": 38,
"cds_end": null,
"cds_length": 669,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000261817.6"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMD9",
"gene_hgnc_id": 9567,
"hgvs_c": "c.38C>T",
"hgvs_p": "p.Ser13Leu",
"transcript": "ENST00000922352.1",
"protein_id": "ENSP00000592411.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 222,
"cds_start": 38,
"cds_end": null,
"cds_length": 669,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922352.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMD9",
"gene_hgnc_id": 9567,
"hgvs_c": "c.38C>T",
"hgvs_p": "p.Ser13Leu",
"transcript": "ENST00000970344.1",
"protein_id": "ENSP00000640403.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 222,
"cds_start": 38,
"cds_end": null,
"cds_length": 669,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970344.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMD9",
"gene_hgnc_id": 9567,
"hgvs_c": "c.38C>T",
"hgvs_p": "p.Ser13Leu",
"transcript": "ENST00000922357.1",
"protein_id": "ENSP00000592416.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 210,
"cds_start": 38,
"cds_end": null,
"cds_length": 633,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922357.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMD9",
"gene_hgnc_id": 9567,
"hgvs_c": "c.38C>T",
"hgvs_p": "p.Ser13Leu",
"transcript": "ENST00000858883.1",
"protein_id": "ENSP00000528942.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 209,
"cds_start": 38,
"cds_end": null,
"cds_length": 630,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858883.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMD9",
"gene_hgnc_id": 9567,
"hgvs_c": "c.38C>T",
"hgvs_p": "p.Ser13Leu",
"transcript": "ENST00000858882.1",
"protein_id": "ENSP00000528941.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 189,
"cds_start": 38,
"cds_end": null,
"cds_length": 570,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858882.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMD9",
"gene_hgnc_id": 9567,
"hgvs_c": "c.38C>T",
"hgvs_p": "p.Ser13Leu",
"transcript": "ENST00000922356.1",
"protein_id": "ENSP00000592415.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 186,
"cds_start": 38,
"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": "ENST00000922356.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMD9",
"gene_hgnc_id": 9567,
"hgvs_c": "c.38C>T",
"hgvs_p": "p.Ser13Leu",
"transcript": "ENST00000538613.5",
"protein_id": "ENSP00000443081.1",
"transcript_support_level": 2,
"aa_start": 13,
"aa_end": null,
"aa_length": 152,
"cds_start": 38,
"cds_end": null,
"cds_length": 461,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000538613.5"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMD9",
"gene_hgnc_id": 9567,
"hgvs_c": "c.38C>T",
"hgvs_p": "p.Ser13Leu",
"transcript": "ENST00000922354.1",
"protein_id": "ENSP00000592413.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 120,
"cds_start": 38,
"cds_end": null,
"cds_length": 363,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922354.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMD9",
"gene_hgnc_id": 9567,
"hgvs_c": "c.38C>T",
"hgvs_p": "p.Ser13Leu",
"transcript": "NM_001261400.3",
"protein_id": "NP_001248329.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 118,
"cds_start": 38,
"cds_end": null,
"cds_length": 357,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001261400.3"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMD9",
"gene_hgnc_id": 9567,
"hgvs_c": "c.38C>T",
"hgvs_p": "p.Ser13Leu",
"transcript": "ENST00000542602.1",
"protein_id": "ENSP00000443772.1",
"transcript_support_level": 3,
"aa_start": 13,
"aa_end": null,
"aa_length": 118,
"cds_start": 38,
"cds_end": null,
"cds_length": 357,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000542602.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMD9",
"gene_hgnc_id": 9567,
"hgvs_c": "c.38C>T",
"hgvs_p": "p.Ser13Leu",
"transcript": "ENST00000858886.1",
"protein_id": "ENSP00000528945.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 117,
"cds_start": 38,
"cds_end": null,
"cds_length": 354,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858886.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMD9",
"gene_hgnc_id": 9567,
"hgvs_c": "c.38C>T",
"hgvs_p": "p.Ser13Leu",
"transcript": "ENST00000922355.1",
"protein_id": "ENSP00000592414.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 84,
"cds_start": 38,
"cds_end": null,
"cds_length": 255,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922355.1"
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMD9",
"gene_hgnc_id": 9567,
"hgvs_c": "n.38C>T",
"hgvs_p": null,
"transcript": "ENST00000540962.5",
"protein_id": "ENSP00000442210.1",
"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": "ENST00000540962.5"
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMD9",
"gene_hgnc_id": 9567,
"hgvs_c": "n.38C>T",
"hgvs_p": null,
"transcript": "ENST00000543699.5",
"protein_id": "ENSP00000440500.1",
"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": "ENST00000543699.5"
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMD9",
"gene_hgnc_id": 9567,
"hgvs_c": "n.105C>T",
"hgvs_p": null,
"transcript": "NR_048555.3",
"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": "NR_048555.3"
}
],
"gene_symbol": "PSMD9",
"gene_hgnc_id": 9567,
"dbsnp": "rs1156702670",
"frequency_reference_population": 0.000008126869,
"hom_count_reference_population": 0,
"allele_count_reference_population": 13,
"gnomad_exomes_af": 0.00000552728,
"gnomad_genomes_af": 0.0000328373,
"gnomad_exomes_ac": 8,
"gnomad_genomes_ac": 5,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0370861291885376,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.018,
"revel_prediction": "Benign",
"alphamissense_score": 0.0741,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.5,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.316,
"phylop100way_prediction": "Benign",
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_002813.7",
"gene_symbol": "PSMD9",
"hgnc_id": 9567,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.38C>T",
"hgvs_p": "p.Ser13Leu"
},
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000546333.1",
"gene_symbol": "ENSG00000256950",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.38C>T",
"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
}