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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: 10-13654443-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=13654443&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 13654443,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_018027.5",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMD4A",
"gene_hgnc_id": 25491,
"hgvs_c": "c.3023C>T",
"hgvs_p": "p.Pro1008Leu",
"transcript": "NM_018027.5",
"protein_id": "NP_060497.3",
"transcript_support_level": null,
"aa_start": 1008,
"aa_end": null,
"aa_length": 1039,
"cds_start": 3023,
"cds_end": null,
"cds_length": 3120,
"cdna_start": 3432,
"cdna_end": null,
"cdna_length": 6861,
"mane_select": "ENST00000357447.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMD4A",
"gene_hgnc_id": 25491,
"hgvs_c": "c.3023C>T",
"hgvs_p": "p.Pro1008Leu",
"transcript": "ENST00000357447.7",
"protein_id": "ENSP00000350032.2",
"transcript_support_level": 1,
"aa_start": 1008,
"aa_end": null,
"aa_length": 1039,
"cds_start": 3023,
"cds_end": null,
"cds_length": 3120,
"cdna_start": 3432,
"cdna_end": null,
"cdna_length": 6861,
"mane_select": "NM_018027.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PRPF18",
"gene_hgnc_id": 17351,
"hgvs_c": "n.603+16G>A",
"hgvs_p": null,
"transcript": "ENST00000430721.2",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1155,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMD4A",
"gene_hgnc_id": 25491,
"hgvs_c": "c.3122C>T",
"hgvs_p": "p.Pro1041Leu",
"transcript": "NM_001318337.2",
"protein_id": "NP_001305266.1",
"transcript_support_level": null,
"aa_start": 1041,
"aa_end": null,
"aa_length": 1072,
"cds_start": 3122,
"cds_end": null,
"cds_length": 3219,
"cdna_start": 3219,
"cdna_end": null,
"cdna_length": 6648,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMD4A",
"gene_hgnc_id": 25491,
"hgvs_c": "c.3071C>T",
"hgvs_p": "p.Pro1024Leu",
"transcript": "NM_001318336.2",
"protein_id": "NP_001305265.1",
"transcript_support_level": null,
"aa_start": 1024,
"aa_end": null,
"aa_length": 1055,
"cds_start": 3071,
"cds_end": null,
"cds_length": 3168,
"cdna_start": 3469,
"cdna_end": null,
"cdna_length": 6898,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMD4A",
"gene_hgnc_id": 25491,
"hgvs_c": "c.3023C>T",
"hgvs_p": "p.Pro1008Leu",
"transcript": "ENST00000495956.3",
"protein_id": "ENSP00000488764.2",
"transcript_support_level": 2,
"aa_start": 1008,
"aa_end": null,
"aa_length": 1050,
"cds_start": 3023,
"cds_end": null,
"cds_length": 3153,
"cdna_start": 3460,
"cdna_end": null,
"cdna_length": 4189,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMD4A",
"gene_hgnc_id": 25491,
"hgvs_c": "c.2096C>T",
"hgvs_p": "p.Pro699Leu",
"transcript": "NM_001318338.2",
"protein_id": "NP_001305267.1",
"transcript_support_level": null,
"aa_start": 699,
"aa_end": null,
"aa_length": 730,
"cds_start": 2096,
"cds_end": null,
"cds_length": 2193,
"cdna_start": 2486,
"cdna_end": null,
"cdna_length": 5915,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMD4A",
"gene_hgnc_id": 25491,
"hgvs_c": "n.84C>T",
"hgvs_p": null,
"transcript": "ENST00000475325.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 875,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRPF18",
"gene_hgnc_id": 17351,
"hgvs_c": "n.407G>A",
"hgvs_p": null,
"transcript": "ENST00000597920.5",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1446,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "PRPF18",
"gene_hgnc_id": 17351,
"hgvs_c": "c.*42+16G>A",
"hgvs_p": null,
"transcript": "ENST00000601460.5",
"protein_id": "ENSP00000473200.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 202,
"cds_start": -4,
"cds_end": null,
"cds_length": 609,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1204,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "PRPF18",
"gene_hgnc_id": 17351,
"hgvs_c": "n.828+16G>A",
"hgvs_p": null,
"transcript": "ENST00000419851.6",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1247,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PRPF18",
"gene_hgnc_id": 17351,
"hgvs_c": "n.47+6213G>A",
"hgvs_p": null,
"transcript": "ENST00000593351.2",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 970,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "PRPF18",
"gene_hgnc_id": 17351,
"hgvs_c": "n.208+16G>A",
"hgvs_p": null,
"transcript": "ENST00000593358.5",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 313,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "PRPF18",
"gene_hgnc_id": 17351,
"hgvs_c": "n.803+16G>A",
"hgvs_p": null,
"transcript": "ENST00000594575.5",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cds_length": null,
"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "PRPF18",
"gene_hgnc_id": 17351,
"hgvs_c": "n.685+16G>A",
"hgvs_p": null,
"transcript": "ENST00000596235.5",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 790,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "PRPF18",
"gene_hgnc_id": 17351,
"hgvs_c": "n.607+16G>A",
"hgvs_p": null,
"transcript": "ENST00000596499.5",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PRPF18",
"gene_hgnc_id": 17351,
"hgvs_c": "n.513+16G>A",
"hgvs_p": null,
"transcript": "ENST00000598625.1",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 612,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "PRPF18",
"gene_hgnc_id": 17351,
"hgvs_c": "n.547+16G>A",
"hgvs_p": null,
"transcript": "ENST00000599639.5",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 652,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "PRPF18",
"gene_hgnc_id": 17351,
"hgvs_c": "n.397+16G>A",
"hgvs_p": null,
"transcript": "ENST00000600511.5",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 505,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "PRPF18",
"gene_hgnc_id": 17351,
"hgvs_c": "n.1165+16G>A",
"hgvs_p": null,
"transcript": "ENST00000610395.4",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PRPF18",
"gene_hgnc_id": 17351,
"hgvs_c": "n.182+16G>A",
"hgvs_p": null,
"transcript": "ENST00000611235.4",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "PRPF18",
"gene_hgnc_id": 17351,
"hgvs_c": "n.689+16G>A",
"hgvs_p": null,
"transcript": "ENST00000612284.4",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 794,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "PRPF18",
"gene_hgnc_id": 17351,
"hgvs_c": "n.736+16G>A",
"hgvs_p": null,
"transcript": "ENST00000612296.4",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 841,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
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"protein_coding": true,
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],
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},
{
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],
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},
{
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"protein_coding": true,
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],
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"exon_count": 10,
"intron_rank": 9,
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"transcript": "XM_047425967.1",
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
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"exon_count": 5,
"intron_rank": null,
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"gene_symbol": "PRPF18",
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"transcript": "ENST00000601758.5",
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"feature": null
},
{
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"protein_coding": false,
"strand": true,
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"downstream_gene_variant"
],
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"exon_count": 2,
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"gene_symbol": "PRPF18",
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"transcript": "ENST00000620488.1",
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},
{
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"protein_coding": false,
"strand": true,
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"downstream_gene_variant"
],
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"exon_count": 7,
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"gene_symbol": "PRPF18",
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"hgvs_c": "n.*42G>A",
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"transcript": "ENST00000620849.4",
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"feature": null
},
{
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"strand": true,
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"downstream_gene_variant"
],
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"exon_count": 5,
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"gene_symbol": "PRPF18",
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"hgvs_c": "n.*21G>A",
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"transcript": "ENST00000621532.4",
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"cds_end": null,
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"feature": null
}
],
"gene_symbol": "FRMD4A",
"gene_hgnc_id": 25491,
"dbsnp": "rs1249453025",
"frequency_reference_population": 0.0000012400425,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 6.84629e-7,
"gnomad_genomes_af": 0.00000657022,
"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": 0.8067445755004883,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.563,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.3222,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": 0.38,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.602,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.03,
"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_018027.5",
"gene_symbol": "FRMD4A",
"hgnc_id": 25491,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.3023C>T",
"hgvs_p": "p.Pro1008Leu"
},
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000597920.5",
"gene_symbol": "PRPF18",
"hgnc_id": 17351,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.407G>A",
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}
],
"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
}