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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: 19-48615892-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=48615892&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 48615892,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_000979.4",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL18",
"gene_hgnc_id": 10310,
"hgvs_c": "c.476C>T",
"hgvs_p": "p.Pro159Leu",
"transcript": "NM_000979.4",
"protein_id": "NP_000970.1",
"transcript_support_level": null,
"aa_start": 159,
"aa_end": null,
"aa_length": 188,
"cds_start": 476,
"cds_end": null,
"cds_length": 567,
"cdna_start": 511,
"cdna_end": null,
"cdna_length": 643,
"mane_select": "ENST00000549920.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000979.4"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL18",
"gene_hgnc_id": 10310,
"hgvs_c": "c.476C>T",
"hgvs_p": "p.Pro159Leu",
"transcript": "ENST00000549920.6",
"protein_id": "ENSP00000447001.1",
"transcript_support_level": 1,
"aa_start": 159,
"aa_end": null,
"aa_length": 188,
"cds_start": 476,
"cds_end": null,
"cds_length": 567,
"cdna_start": 511,
"cdna_end": null,
"cdna_length": 643,
"mane_select": "NM_000979.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000549920.6"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL18",
"gene_hgnc_id": 10310,
"hgvs_c": "c.479C>T",
"hgvs_p": "p.Pro160Leu",
"transcript": "ENST00000084795.9",
"protein_id": "ENSP00000084795.5",
"transcript_support_level": 1,
"aa_start": 160,
"aa_end": null,
"aa_length": 189,
"cds_start": 479,
"cds_end": null,
"cds_length": 570,
"cdna_start": 480,
"cdna_end": null,
"cdna_length": 612,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000084795.9"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL18",
"gene_hgnc_id": 10310,
"hgvs_c": "c.467C>T",
"hgvs_p": "p.Pro156Leu",
"transcript": "ENST00000919794.1",
"protein_id": "ENSP00000589853.1",
"transcript_support_level": null,
"aa_start": 156,
"aa_end": null,
"aa_length": 185,
"cds_start": 467,
"cds_end": null,
"cds_length": 558,
"cdna_start": 537,
"cdna_end": null,
"cdna_length": 674,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919794.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL18",
"gene_hgnc_id": 10310,
"hgvs_c": "c.461C>T",
"hgvs_p": "p.Pro154Leu",
"transcript": "ENST00000950806.1",
"protein_id": "ENSP00000620865.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 183,
"cds_start": 461,
"cds_end": null,
"cds_length": 552,
"cdna_start": 493,
"cdna_end": null,
"cdna_length": 624,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950806.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL18",
"gene_hgnc_id": 10310,
"hgvs_c": "c.410C>T",
"hgvs_p": "p.Pro137Leu",
"transcript": "ENST00000546623.5",
"protein_id": "ENSP00000446634.1",
"transcript_support_level": 5,
"aa_start": 137,
"aa_end": null,
"aa_length": 166,
"cds_start": 410,
"cds_end": null,
"cds_length": 501,
"cdna_start": 411,
"cdna_end": null,
"cdna_length": 541,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000546623.5"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL18",
"gene_hgnc_id": 10310,
"hgvs_c": "c.476C>T",
"hgvs_p": "p.Pro159Leu",
"transcript": "ENST00000549273.5",
"protein_id": "ENSP00000449610.1",
"transcript_support_level": 2,
"aa_start": 159,
"aa_end": null,
"aa_length": 164,
"cds_start": 476,
"cds_end": null,
"cds_length": 495,
"cdna_start": 510,
"cdna_end": null,
"cdna_length": 1036,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000549273.5"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL18",
"gene_hgnc_id": 10310,
"hgvs_c": "c.395C>T",
"hgvs_p": "p.Pro132Leu",
"transcript": "ENST00000919803.1",
"protein_id": "ENSP00000589862.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 161,
"cds_start": 395,
"cds_end": null,
"cds_length": 486,
"cdna_start": 427,
"cdna_end": null,
"cdna_length": 554,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919803.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL18",
"gene_hgnc_id": 10310,
"hgvs_c": "c.389C>T",
"hgvs_p": "p.Pro130Leu",
"transcript": "NM_001270490.2",
"protein_id": "NP_001257419.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 159,
"cds_start": 389,
"cds_end": null,
"cds_length": 480,
"cdna_start": 424,
"cdna_end": null,
"cdna_length": 556,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001270490.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL18",
"gene_hgnc_id": 10310,
"hgvs_c": "c.389C>T",
"hgvs_p": "p.Pro130Leu",
"transcript": "ENST00000552588.5",
"protein_id": "ENSP00000449204.1",
"transcript_support_level": 3,
"aa_start": 130,
"aa_end": null,
"aa_length": 159,
"cds_start": 389,
"cds_end": null,
"cds_length": 480,
"cdna_start": 427,
"cdna_end": null,
"cdna_length": 559,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000552588.5"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL18",
"gene_hgnc_id": 10310,
"hgvs_c": "c.377C>T",
"hgvs_p": "p.Pro126Leu",
"transcript": "ENST00000919793.1",
"protein_id": "ENSP00000589852.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 155,
"cds_start": 377,
"cds_end": null,
"cds_length": 468,
"cdna_start": 447,
"cdna_end": null,
"cdna_length": 626,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919793.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL18",
"gene_hgnc_id": 10310,
"hgvs_c": "c.377C>T",
"hgvs_p": "p.Pro126Leu",
"transcript": "ENST00000919801.1",
"protein_id": "ENSP00000589860.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 155,
"cds_start": 377,
"cds_end": null,
"cds_length": 468,
"cdna_start": 413,
"cdna_end": null,
"cdna_length": 548,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919801.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL18",
"gene_hgnc_id": 10310,
"hgvs_c": "c.368C>T",
"hgvs_p": "p.Pro123Leu",
"transcript": "ENST00000919799.1",
"protein_id": "ENSP00000589858.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 152,
"cds_start": 368,
"cds_end": null,
"cds_length": 459,
"cdna_start": 408,
"cdna_end": null,
"cdna_length": 542,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919799.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL18",
"gene_hgnc_id": 10310,
"hgvs_c": "c.314C>T",
"hgvs_p": "p.Pro105Leu",
"transcript": "ENST00000919797.1",
"protein_id": "ENSP00000589856.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 134,
"cds_start": 314,
"cds_end": null,
"cds_length": 405,
"cdna_start": 356,
"cdna_end": null,
"cdna_length": 490,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919797.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL18",
"gene_hgnc_id": 10310,
"hgvs_c": "c.311C>T",
"hgvs_p": "p.Pro104Leu",
"transcript": "ENST00000550645.5",
"protein_id": "ENSP00000448899.1",
"transcript_support_level": 5,
"aa_start": 104,
"aa_end": null,
"aa_length": 133,
"cds_start": 311,
"cds_end": null,
"cds_length": 402,
"cdna_start": 331,
"cdna_end": null,
"cdna_length": 463,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000550645.5"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL18",
"gene_hgnc_id": 10310,
"hgvs_c": "c.320C>T",
"hgvs_p": "p.Pro107Leu",
"transcript": "ENST00000550973.5",
"protein_id": "ENSP00000447894.1",
"transcript_support_level": 5,
"aa_start": 107,
"aa_end": null,
"aa_length": 129,
"cds_start": 320,
"cds_end": null,
"cds_length": 390,
"cdna_start": 1041,
"cdna_end": null,
"cdna_length": 1111,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000550973.5"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL18",
"gene_hgnc_id": 10310,
"hgvs_c": "c.269C>T",
"hgvs_p": "p.Pro90Leu",
"transcript": "ENST00000919798.1",
"protein_id": "ENSP00000589857.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 119,
"cds_start": 269,
"cds_end": null,
"cds_length": 360,
"cdna_start": 309,
"cdna_end": null,
"cdna_length": 444,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919798.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL18",
"gene_hgnc_id": 10310,
"hgvs_c": "c.236C>T",
"hgvs_p": "p.Pro79Leu",
"transcript": "ENST00000919802.1",
"protein_id": "ENSP00000589861.1",
"transcript_support_level": null,
"aa_start": 79,
"aa_end": null,
"aa_length": 108,
"cds_start": 236,
"cds_end": null,
"cds_length": 327,
"cdna_start": 276,
"cdna_end": null,
"cdna_length": 406,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919802.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL18",
"gene_hgnc_id": 10310,
"hgvs_c": "c.182C>T",
"hgvs_p": "p.Pro61Leu",
"transcript": "ENST00000919796.1",
"protein_id": "ENSP00000589855.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 90,
"cds_start": 182,
"cds_end": null,
"cds_length": 273,
"cdna_start": 233,
"cdna_end": null,
"cdna_length": 367,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919796.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "RPL18",
"gene_hgnc_id": 10310,
"hgvs_c": "c.462+14C>T",
"hgvs_p": null,
"transcript": "ENST00000901609.1",
"protein_id": "ENSP00000571668.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 169,
"cds_start": null,
"cds_end": null,
"cds_length": 510,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 568,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901609.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "RPL18",
"gene_hgnc_id": 10310,
"hgvs_c": "c.352+256C>T",
"hgvs_p": null,
"transcript": "ENST00000919800.1",
"protein_id": "ENSP00000589859.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 121,
"cds_start": null,
"cds_end": null,
"cds_length": 366,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 447,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919800.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "RPL18",
"gene_hgnc_id": 10310,
"hgvs_c": "c.91-473C>T",
"hgvs_p": null,
"transcript": "ENST00000919795.1",
"protein_id": "ENSP00000589854.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 45,
"cds_start": null,
"cds_end": null,
"cds_length": 138,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 243,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919795.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
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"feature": "ENST00000547892.1"
},
{
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000549370.5"
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
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"exon_rank": 1,
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"gene_symbol": "RPL18",
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"cdna_length": 666,
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"biotype": "retained_intron",
"feature": "ENST00000549533.1"
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
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],
"exon_rank": 4,
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"exon_count": 4,
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"gene_symbol": "RPL18",
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{
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"feature": "ENST00000552347.5"
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{
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"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
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"exon_count": 7,
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"gene_symbol": "RPL18",
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"hgvs_c": "n.503C>T",
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"transcript": "NR_073022.2",
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"biotype": "pseudogene",
"feature": "NR_073022.2"
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
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"feature": "ENST00000549370.5"
},
{
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"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
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"exon_count": 5,
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"gene_symbol": "RPL18",
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"hgvs_c": "n.298-445C>T",
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"transcript": "ENST00000547897.5",
"protein_id": "ENSP00000470988.1",
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"biotype": "non_stop_decay",
"feature": "ENST00000547897.5"
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{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
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"exon_count": 2,
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"gene_symbol": "ENSG00000304120",
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"transcript": "ENST00000799895.1",
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"biotype": "pseudogene",
"feature": "ENST00000799895.1"
},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
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"gene_symbol": "RPL18",
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"transcript": "ENST00000552705.5",
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"biotype": "retained_intron",
"feature": "ENST00000552705.5"
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],
"gene_symbol": "RPL18",
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"dbsnp": "rs752307128",
"frequency_reference_population": 0.0000031019679,
"hom_count_reference_population": 0,
"allele_count_reference_population": 5,
"gnomad_exomes_af": 0.00000274033,
"gnomad_genomes_af": 0.0000065703,
"gnomad_exomes_ac": 4,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8335591554641724,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.472,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.8945,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.2,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 6.955,
"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": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_000979.4",
"gene_symbol": "RPL18",
"hgnc_id": 10310,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,Unknown",
"hgvs_c": "c.476C>T",
"hgvs_p": "p.Pro159Leu"
},
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000799895.1",
"gene_symbol": "ENSG00000304120",
"hgnc_id": null,
"effects": [
"upstream_gene_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.-187G>A",
"hgvs_p": null
}
],
"clinvar_disease": "not provided,not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "not provided|not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}