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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: 5-612411-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=612411&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 612411,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_018140.4",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP72",
"gene_hgnc_id": 25547,
"hgvs_c": "c.50C>G",
"hgvs_p": "p.Ala17Gly",
"transcript": "NM_018140.4",
"protein_id": "NP_060610.2",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 647,
"cds_start": 50,
"cds_end": null,
"cds_length": 1944,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000264935.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018140.4"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP72",
"gene_hgnc_id": 25547,
"hgvs_c": "c.50C>G",
"hgvs_p": "p.Ala17Gly",
"transcript": "ENST00000264935.6",
"protein_id": "ENSP00000264935.5",
"transcript_support_level": 1,
"aa_start": 17,
"aa_end": null,
"aa_length": 647,
"cds_start": 50,
"cds_end": null,
"cds_length": 1944,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_018140.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000264935.6"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP72",
"gene_hgnc_id": 25547,
"hgvs_c": "c.50C>G",
"hgvs_p": "p.Ala17Gly",
"transcript": "ENST00000856935.1",
"protein_id": "ENSP00000526994.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 647,
"cds_start": 50,
"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": "ENST00000856935.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP72",
"gene_hgnc_id": 25547,
"hgvs_c": "c.50C>G",
"hgvs_p": "p.Ala17Gly",
"transcript": "ENST00000919286.1",
"protein_id": "ENSP00000589345.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 576,
"cds_start": 50,
"cds_end": null,
"cds_length": 1731,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919286.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP72",
"gene_hgnc_id": 25547,
"hgvs_c": "c.50C>G",
"hgvs_p": "p.Ala17Gly",
"transcript": "ENST00000919287.1",
"protein_id": "ENSP00000589346.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 551,
"cds_start": 50,
"cds_end": null,
"cds_length": 1656,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919287.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP72",
"gene_hgnc_id": 25547,
"hgvs_c": "c.50C>G",
"hgvs_p": "p.Ala17Gly",
"transcript": "ENST00000919288.1",
"protein_id": "ENSP00000589347.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 536,
"cds_start": 50,
"cds_end": null,
"cds_length": 1611,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919288.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"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": "CEP72",
"gene_hgnc_id": 25547,
"hgvs_c": "c.50C>G",
"hgvs_p": "p.Ala17Gly",
"transcript": "ENST00000919290.1",
"protein_id": "ENSP00000589349.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 373,
"cds_start": 50,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919290.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"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": "CEP72",
"gene_hgnc_id": 25547,
"hgvs_c": "c.50C>G",
"hgvs_p": "p.Ala17Gly",
"transcript": "ENST00000919289.1",
"protein_id": "ENSP00000589348.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 119,
"cds_start": 50,
"cds_end": null,
"cds_length": 360,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919289.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP72",
"gene_hgnc_id": 25547,
"hgvs_c": "c.50C>G",
"hgvs_p": "p.Ala17Gly",
"transcript": "XM_011514063.2",
"protein_id": "XP_011512365.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 647,
"cds_start": 50,
"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": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP72",
"gene_hgnc_id": 25547,
"hgvs_c": "c.50C>G",
"hgvs_p": "p.Ala17Gly",
"transcript": "XM_047417363.1",
"protein_id": "XP_047273319.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 647,
"cds_start": 50,
"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": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP72",
"gene_hgnc_id": 25547,
"hgvs_c": "c.50C>G",
"hgvs_p": "p.Ala17Gly",
"transcript": "XM_047417364.1",
"protein_id": "XP_047273320.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 647,
"cds_start": 50,
"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": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP72",
"gene_hgnc_id": 25547,
"hgvs_c": "c.50C>G",
"hgvs_p": "p.Ala17Gly",
"transcript": "XM_047417365.1",
"protein_id": "XP_047273321.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 647,
"cds_start": 50,
"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": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP72",
"gene_hgnc_id": 25547,
"hgvs_c": "c.50C>G",
"hgvs_p": "p.Ala17Gly",
"transcript": "XM_047417366.1",
"protein_id": "XP_047273322.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 647,
"cds_start": 50,
"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_047417366.1"
},
{
"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": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP72",
"gene_hgnc_id": 25547,
"hgvs_c": "n.72C>G",
"hgvs_p": null,
"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"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP72",
"gene_hgnc_id": 25547,
"hgvs_c": "c.-259C>G",
"hgvs_p": null,
"transcript": "XM_005248322.4",
"protein_id": "XP_005248379.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 597,
"cds_start": null,
"cds_end": null,
"cds_length": 1794,
"cdna_start": null,
"cdna_end": null,
"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": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP72-DT",
"gene_hgnc_id": 55563,
"hgvs_c": "n.-201G>C",
"hgvs_p": null,
"transcript": "ENST00000506629.1",
"protein_id": null,
"transcript_support_level": 3,
"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": "ENST00000506629.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP72-DT",
"gene_hgnc_id": 55563,
"hgvs_c": "n.-208G>C",
"hgvs_p": null,
"transcript": "ENST00000782781.1",
"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": "ENST00000782781.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP72-DT",
"gene_hgnc_id": 55563,
"hgvs_c": "n.-218G>C",
"hgvs_p": null,
"transcript": "ENST00000782782.1",
"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": "ENST00000782782.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP72-DT",
"gene_hgnc_id": 55563,
"hgvs_c": "n.-218G>C",
"hgvs_p": null,
"transcript": "ENST00000782783.1",
"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": "ENST00000782783.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP72-DT",
"gene_hgnc_id": 55563,
"hgvs_c": "n.-199G>C",
"hgvs_p": null,
"transcript": "ENST00000782785.1",
"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": "ENST00000782785.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP72-DT",
"gene_hgnc_id": 55563,
"hgvs_c": "n.-180G>C",
"hgvs_p": null,
"transcript": "ENST00000782787.1",
"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": "ENST00000782787.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP72-DT",
"gene_hgnc_id": 55563,
"hgvs_c": "n.-218G>C",
"hgvs_p": null,
"transcript": "ENST00000782788.1",
"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": "ENST00000782788.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP72-DT",
"gene_hgnc_id": 55563,
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"aa_length": null,
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"cdna_start": null,
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"cdna_length": null,
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"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000782789.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP72-DT",
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},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 3,
"intron_rank": null,
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"gene_symbol": "CEP72-DT",
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"biotype": "pseudogene",
"feature": "ENST00000782791.1"
},
{
"aa_ref": null,
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"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
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"exon_count": 3,
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"gene_symbol": "CEP72-DT",
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"biotype": "pseudogene",
"feature": "ENST00000782792.1"
},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
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"exon_count": 3,
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"gene_symbol": "CEP72-DT",
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"biotype": "pseudogene",
"feature": "ENST00000782793.1"
},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
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"exon_count": 3,
"intron_rank": null,
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"gene_symbol": "CEP72-DT",
"gene_hgnc_id": 55563,
"hgvs_c": "n.-201G>C",
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"transcript": "NR_103444.1",
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"aa_end": null,
"aa_length": null,
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"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_103444.1"
}
],
"gene_symbol": "CEP72",
"gene_hgnc_id": 25547,
"dbsnp": null,
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.05710548162460327,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.10999999940395355,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.012,
"revel_prediction": "Benign",
"alphamissense_score": 0.1255,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.68,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.035,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.11,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_018140.4",
"gene_symbol": "CEP72",
"hgnc_id": 25547,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.50C>G",
"hgvs_p": "p.Ala17Gly"
},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000506629.1",
"gene_symbol": "CEP72-DT",
"hgnc_id": 55563,
"effects": [
"upstream_gene_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.-201G>C",
"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
}