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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: 5-665170-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=665170&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 665170,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_007030.3",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPPP",
"gene_hgnc_id": 24164,
"hgvs_c": "c.592G>A",
"hgvs_p": "p.Glu198Lys",
"transcript": "NM_007030.3",
"protein_id": "NP_008961.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 219,
"cds_start": 592,
"cds_end": null,
"cds_length": 660,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000360578.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_007030.3"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPPP",
"gene_hgnc_id": 24164,
"hgvs_c": "c.592G>A",
"hgvs_p": "p.Glu198Lys",
"transcript": "ENST00000360578.7",
"protein_id": "ENSP00000353785.5",
"transcript_support_level": 1,
"aa_start": 198,
"aa_end": null,
"aa_length": 219,
"cds_start": 592,
"cds_end": null,
"cds_length": 660,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_007030.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000360578.7"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPPP",
"gene_hgnc_id": 24164,
"hgvs_c": "c.592G>A",
"hgvs_p": "p.Glu198Lys",
"transcript": "ENST00000889051.1",
"protein_id": "ENSP00000559110.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 219,
"cds_start": 592,
"cds_end": null,
"cds_length": 660,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889051.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPPP",
"gene_hgnc_id": 24164,
"hgvs_c": "c.592G>A",
"hgvs_p": "p.Glu198Lys",
"transcript": "ENST00000889052.1",
"protein_id": "ENSP00000559111.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 219,
"cds_start": 592,
"cds_end": null,
"cds_length": 660,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889052.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPPP",
"gene_hgnc_id": 24164,
"hgvs_c": "c.592G>A",
"hgvs_p": "p.Glu198Lys",
"transcript": "ENST00000889053.1",
"protein_id": "ENSP00000559112.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 219,
"cds_start": 592,
"cds_end": null,
"cds_length": 660,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889053.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPPP",
"gene_hgnc_id": 24164,
"hgvs_c": "c.592G>A",
"hgvs_p": "p.Glu198Lys",
"transcript": "ENST00000889054.1",
"protein_id": "ENSP00000559113.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 219,
"cds_start": 592,
"cds_end": null,
"cds_length": 660,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889054.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPPP",
"gene_hgnc_id": 24164,
"hgvs_c": "c.592G>A",
"hgvs_p": "p.Glu198Lys",
"transcript": "ENST00000889056.1",
"protein_id": "ENSP00000559115.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 219,
"cds_start": 592,
"cds_end": null,
"cds_length": 660,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889056.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPPP",
"gene_hgnc_id": 24164,
"hgvs_c": "c.592G>A",
"hgvs_p": "p.Glu198Lys",
"transcript": "ENST00000889057.1",
"protein_id": "ENSP00000559116.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 219,
"cds_start": 592,
"cds_end": null,
"cds_length": 660,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889057.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"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": "TPPP",
"gene_hgnc_id": 24164,
"hgvs_c": "c.592G>A",
"hgvs_p": "p.Glu198Lys",
"transcript": "ENST00000889058.1",
"protein_id": "ENSP00000559117.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 219,
"cds_start": 592,
"cds_end": null,
"cds_length": 660,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889058.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPPP",
"gene_hgnc_id": 24164,
"hgvs_c": "c.592G>A",
"hgvs_p": "p.Glu198Lys",
"transcript": "ENST00000941396.1",
"protein_id": "ENSP00000611455.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 219,
"cds_start": 592,
"cds_end": null,
"cds_length": 660,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941396.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPPP",
"gene_hgnc_id": 24164,
"hgvs_c": "c.592G>A",
"hgvs_p": "p.Glu198Lys",
"transcript": "ENST00000941397.1",
"protein_id": "ENSP00000611456.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 219,
"cds_start": 592,
"cds_end": null,
"cds_length": 660,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941397.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPPP",
"gene_hgnc_id": 24164,
"hgvs_c": "c.592G>A",
"hgvs_p": "p.Glu198Lys",
"transcript": "ENST00000941398.1",
"protein_id": "ENSP00000611457.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 219,
"cds_start": 592,
"cds_end": null,
"cds_length": 660,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941398.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPPP",
"gene_hgnc_id": 24164,
"hgvs_c": "c.592G>A",
"hgvs_p": "p.Glu198Lys",
"transcript": "ENST00000941399.1",
"protein_id": "ENSP00000611458.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 219,
"cds_start": 592,
"cds_end": null,
"cds_length": 660,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941399.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPPP",
"gene_hgnc_id": 24164,
"hgvs_c": "c.544G>A",
"hgvs_p": "p.Glu182Lys",
"transcript": "ENST00000889055.1",
"protein_id": "ENSP00000559114.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 203,
"cds_start": 544,
"cds_end": null,
"cds_length": 612,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889055.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPPP",
"gene_hgnc_id": 24164,
"hgvs_c": "c.466G>A",
"hgvs_p": "p.Glu156Lys",
"transcript": "ENST00000889059.1",
"protein_id": "ENSP00000559118.1",
"transcript_support_level": null,
"aa_start": 156,
"aa_end": null,
"aa_length": 177,
"cds_start": 466,
"cds_end": null,
"cds_length": 534,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889059.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPPP",
"gene_hgnc_id": 24164,
"hgvs_c": "c.793G>A",
"hgvs_p": "p.Glu265Lys",
"transcript": "XM_017008993.2",
"protein_id": "XP_016864482.1",
"transcript_support_level": null,
"aa_start": 265,
"aa_end": null,
"aa_length": 286,
"cds_start": 793,
"cds_end": null,
"cds_length": 861,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017008993.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPPP",
"gene_hgnc_id": 24164,
"hgvs_c": "c.592G>A",
"hgvs_p": "p.Glu198Lys",
"transcript": "XM_024454346.1",
"protein_id": "XP_024310114.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 219,
"cds_start": 592,
"cds_end": null,
"cds_length": 660,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024454346.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPPP",
"gene_hgnc_id": 24164,
"hgvs_c": "c.592G>A",
"hgvs_p": "p.Glu198Lys",
"transcript": "XM_047416674.1",
"protein_id": "XP_047272630.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 219,
"cds_start": 592,
"cds_end": null,
"cds_length": 660,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416674.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP72",
"gene_hgnc_id": 25547,
"hgvs_c": "c.*1793C>T",
"hgvs_p": null,
"transcript": "XM_011514063.2",
"protein_id": "XP_011512365.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 647,
"cds_start": null,
"cds_end": null,
"cds_length": 1944,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011514063.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP72",
"gene_hgnc_id": 25547,
"hgvs_c": "c.*4186C>T",
"hgvs_p": null,
"transcript": "XM_047417363.1",
"protein_id": "XP_047273319.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 647,
"cds_start": null,
"cds_end": null,
"cds_length": 1944,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417363.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP72",
"gene_hgnc_id": 25547,
"hgvs_c": "c.*1922C>T",
"hgvs_p": null,
"transcript": "XM_047417364.1",
"protein_id": "XP_047273320.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 647,
"cds_start": null,
"cds_end": null,
"cds_length": 1944,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417364.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP72",
"gene_hgnc_id": 25547,
"hgvs_c": "c.*1922C>T",
"hgvs_p": null,
"transcript": "XM_047417365.1",
"protein_id": "XP_047273321.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 647,
"cds_start": null,
"cds_end": null,
"cds_length": 1944,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417365.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
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"exon_count": 15,
"intron_rank": null,
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"gene_symbol": "CEP72",
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"hgvs_c": "c.*4186C>T",
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"transcript": "XM_005248322.4",
"protein_id": "XP_005248379.1",
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"aa_length": 597,
"cds_start": null,
"cds_end": null,
"cds_length": 1794,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005248322.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 13,
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"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP72",
"gene_hgnc_id": 25547,
"hgvs_c": "c.*4186C>T",
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"transcript": "XM_011514064.3",
"protein_id": "XP_011512366.1",
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"cds_start": null,
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"biotype": "protein_coding",
"feature": "XM_011514064.3"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 13,
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"exon_count": 15,
"intron_rank": null,
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"gene_symbol": "CEP72",
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"hgvs_c": "c.*4186C>T",
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"transcript": "XM_047417367.1",
"protein_id": "XP_047273323.1",
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"aa_start": null,
"aa_end": null,
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"cds_start": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417367.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
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"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP72",
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"hgvs_c": "c.*4186C>T",
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"transcript": "XM_047417368.1",
"protein_id": "XP_047273324.1",
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"aa_start": null,
"aa_end": null,
"aa_length": 458,
"cds_start": null,
"cds_end": null,
"cds_length": 1377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417368.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 5,
"intron_rank": 2,
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"gene_symbol": "CEP72",
"gene_hgnc_id": 25547,
"hgvs_c": "n.288-10C>T",
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"transcript": "ENST00000514507.1",
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"transcript_support_level": 3,
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"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000514507.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 16,
"intron_rank": 14,
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"gene_symbol": "CEP72",
"gene_hgnc_id": 25547,
"hgvs_c": "n.2449-10C>T",
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"transcript": "NR_164122.1",
"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_164122.1"
}
],
"gene_symbol": "TPPP",
"gene_hgnc_id": 24164,
"dbsnp": "rs748630491",
"frequency_reference_population": 0.000004958006,
"hom_count_reference_population": 0,
"allele_count_reference_population": 8,
"gnomad_exomes_af": 0.00000479014,
"gnomad_genomes_af": 0.00000656953,
"gnomad_exomes_ac": 7,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.07872825860977173,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.03,
"revel_prediction": "Benign",
"alphamissense_score": 0.0936,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.52,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.742,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_007030.3",
"gene_symbol": "TPPP",
"hgnc_id": 24164,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.592G>A",
"hgvs_p": "p.Glu198Lys"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "XM_011514063.2",
"gene_symbol": "CEP72",
"hgnc_id": 25547,
"effects": [
"3_prime_UTR_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.*1793C>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
}