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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: 1-150324880-C-CTT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=150324880&ref=C&alt=CTT&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 150324880,
"ref": "C",
"alt": "CTT",
"effect": "splice_acceptor_variant,intron_variant",
"transcript": "NM_004698.4",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PRPF3",
"gene_hgnc_id": 17348,
"hgvs_c": "c.-48-4_-48-3dupTT",
"hgvs_p": null,
"transcript": "NM_004698.4",
"protein_id": "NP_004689.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 683,
"cds_start": null,
"cds_end": null,
"cds_length": 2052,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000324862.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004698.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PRPF3",
"gene_hgnc_id": 17348,
"hgvs_c": "c.-48-15_-48-14insTT",
"hgvs_p": null,
"transcript": "ENST00000324862.7",
"protein_id": "ENSP00000315379.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 683,
"cds_start": null,
"cds_end": null,
"cds_length": 2052,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004698.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000324862.7"
},
{
"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": 8,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PRPF3",
"gene_hgnc_id": 17348,
"hgvs_c": "n.115-15_115-14insTT",
"hgvs_p": null,
"transcript": "ENST00000496202.5",
"protein_id": null,
"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": "pseudogene",
"feature": "ENST00000496202.5"
},
{
"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": 16,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PRPF3",
"gene_hgnc_id": 17348,
"hgvs_c": "c.-48-15_-48-14insTT",
"hgvs_p": null,
"transcript": "ENST00000907626.1",
"protein_id": "ENSP00000577685.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 683,
"cds_start": null,
"cds_end": null,
"cds_length": 2052,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907626.1"
},
{
"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": 16,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PRPF3",
"gene_hgnc_id": 17348,
"hgvs_c": "c.-42-21_-42-20insTT",
"hgvs_p": null,
"transcript": "ENST00000907627.1",
"protein_id": "ENSP00000577686.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 683,
"cds_start": null,
"cds_end": null,
"cds_length": 2052,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907627.1"
},
{
"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": 16,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PRPF3",
"gene_hgnc_id": 17348,
"hgvs_c": "c.-48-15_-48-14insTT",
"hgvs_p": null,
"transcript": "ENST00000907628.1",
"protein_id": "ENSP00000577687.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 683,
"cds_start": null,
"cds_end": null,
"cds_length": 2052,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907628.1"
},
{
"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": 16,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PRPF3",
"gene_hgnc_id": 17348,
"hgvs_c": "c.-48-15_-48-14insTT",
"hgvs_p": null,
"transcript": "ENST00000907629.1",
"protein_id": "ENSP00000577688.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 683,
"cds_start": null,
"cds_end": null,
"cds_length": 2052,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907629.1"
},
{
"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": 16,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PRPF3",
"gene_hgnc_id": 17348,
"hgvs_c": "c.-48-15_-48-14insTT",
"hgvs_p": null,
"transcript": "ENST00000927115.1",
"protein_id": "ENSP00000597174.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 683,
"cds_start": null,
"cds_end": null,
"cds_length": 2052,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927115.1"
},
{
"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": 16,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PRPF3",
"gene_hgnc_id": 17348,
"hgvs_c": "c.-48-15_-48-14insTT",
"hgvs_p": null,
"transcript": "ENST00000957677.1",
"protein_id": "ENSP00000627736.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 682,
"cds_start": null,
"cds_end": null,
"cds_length": 2049,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957677.1"
},
{
"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": 15,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PRPF3",
"gene_hgnc_id": 17348,
"hgvs_c": "c.-48-15_-48-14insTT",
"hgvs_p": null,
"transcript": "ENST00000927114.1",
"protein_id": "ENSP00000597173.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 655,
"cds_start": null,
"cds_end": null,
"cds_length": 1968,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927114.1"
},
{
"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": 15,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PRPF3",
"gene_hgnc_id": 17348,
"hgvs_c": "c.-48-15_-48-14insTT",
"hgvs_p": null,
"transcript": "ENST00000907625.1",
"protein_id": "ENSP00000577684.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 634,
"cds_start": null,
"cds_end": null,
"cds_length": 1905,
"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907625.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PRPF3",
"gene_hgnc_id": 17348,
"hgvs_c": "c.-48-15_-48-14insTT",
"hgvs_p": null,
"transcript": "ENST00000957678.1",
"protein_id": "ENSP00000627737.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 634,
"cds_start": null,
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"cds_length": 1905,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957678.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PRPF3",
"gene_hgnc_id": 17348,
"hgvs_c": "c.-549-4_-549-3dupTT",
"hgvs_p": null,
"transcript": "NM_001350529.1",
"protein_id": "NP_001337458.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"cds_start": null,
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"cds_length": 1647,
"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "NM_001350529.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 1,
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"gene_symbol": "PRPF3",
"gene_hgnc_id": 17348,
"hgvs_c": "c.-48-4_-48-3dupTT",
"hgvs_p": null,
"transcript": "XM_047433995.1",
"protein_id": "XP_047289951.1",
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "XM_047433995.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PRPF3",
"gene_hgnc_id": 17348,
"hgvs_c": "c.-48-4_-48-3dupTT",
"hgvs_p": null,
"transcript": "XM_011510131.4",
"protein_id": "XP_011508433.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 431,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011510131.4"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 1,
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"gene_symbol": "PRPF3",
"gene_hgnc_id": 17348,
"hgvs_c": "c.-48-4_-48-3dupTT",
"hgvs_p": null,
"transcript": "XM_011510132.4",
"protein_id": "XP_011508434.1",
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"aa_start": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011510132.4"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PRPF3",
"gene_hgnc_id": 17348,
"hgvs_c": "c.-48-4_-48-3dupTT",
"hgvs_p": null,
"transcript": "XM_017002791.3",
"protein_id": "XP_016858280.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 362,
"cds_start": null,
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"cds_length": 1089,
"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017002791.3"
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PRPF3",
"gene_hgnc_id": 17348,
"hgvs_c": "c.-48-4_-48-3dupTT",
"hgvs_p": null,
"transcript": "XM_047434009.1",
"protein_id": "XP_047289965.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047434009.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PRPF3",
"gene_hgnc_id": 17348,
"hgvs_c": "n.126-4_126-3dupTT",
"hgvs_p": null,
"transcript": "NR_146766.1",
"protein_id": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_146766.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PRPF3",
"gene_hgnc_id": 17348,
"hgvs_c": "n.126-4_126-3dupTT",
"hgvs_p": null,
"transcript": "NR_146767.1",
"protein_id": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_146767.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PRPF3",
"gene_hgnc_id": 17348,
"hgvs_c": "n.126-4_126-3dupTT",
"hgvs_p": null,
"transcript": "NR_146768.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_146768.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PRPF3",
"gene_hgnc_id": 17348,
"hgvs_c": "n.126-4_126-3dupTT",
"hgvs_p": null,
"transcript": "NR_146769.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_146769.1"
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{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 1,
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"gene_symbol": "PRPF3",
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"hgvs_c": "n.126-4_126-3dupTT",
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"transcript": "XR_007064872.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007064872.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PRPF3",
"gene_hgnc_id": 17348,
"hgvs_c": "n.126-4_126-3dupTT",
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"transcript": "XR_007064873.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007064873.1"
}
],
"gene_symbol": "PRPF3",
"gene_hgnc_id": 17348,
"dbsnp": "rs75011188",
"frequency_reference_population": 0.11735395,
"hom_count_reference_population": 2163,
"allele_count_reference_population": 146845,
"gnomad_exomes_af": 0.132469,
"gnomad_genomes_af": 0.00117315,
"gnomad_exomes_ac": 146676,
"gnomad_genomes_ac": 169,
"gnomad_exomes_homalt": 2162,
"gnomad_genomes_homalt": 1,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 0.713,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PVS1_Moderate",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PVS1_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_004698.4",
"gene_symbol": "PRPF3",
"hgnc_id": 17348,
"effects": [
"splice_acceptor_variant",
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.-48-4_-48-3dupTT",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}