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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: 1-179996693-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=179996693&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 179996693,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_014810.5",
"consequences": [
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP350",
"gene_hgnc_id": 24238,
"hgvs_c": "c.536G>A",
"hgvs_p": "p.Cys179Tyr",
"transcript": "NM_014810.5",
"protein_id": "NP_055625.4",
"transcript_support_level": null,
"aa_start": 179,
"aa_end": null,
"aa_length": 3117,
"cds_start": 536,
"cds_end": null,
"cds_length": 9354,
"cdna_start": 882,
"cdna_end": null,
"cdna_length": 13414,
"mane_select": "ENST00000367607.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP350",
"gene_hgnc_id": 24238,
"hgvs_c": "c.536G>A",
"hgvs_p": "p.Cys179Tyr",
"transcript": "ENST00000367607.8",
"protein_id": "ENSP00000356579.3",
"transcript_support_level": 1,
"aa_start": 179,
"aa_end": null,
"aa_length": 3117,
"cds_start": 536,
"cds_end": null,
"cds_length": 9354,
"cdna_start": 882,
"cdna_end": null,
"cdna_length": 13414,
"mane_select": "NM_014810.5",
"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": 5,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP350",
"gene_hgnc_id": 24238,
"hgvs_c": "n.*187G>A",
"hgvs_p": null,
"transcript": "ENST00000429851.6",
"protein_id": "ENSP00000412460.2",
"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": 13277,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP350",
"gene_hgnc_id": 24238,
"hgvs_c": "n.*187G>A",
"hgvs_p": null,
"transcript": "ENST00000429851.6",
"protein_id": "ENSP00000412460.2",
"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": 13277,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP350",
"gene_hgnc_id": 24238,
"hgvs_c": "c.536G>A",
"hgvs_p": "p.Cys179Tyr",
"transcript": "ENST00000713622.1",
"protein_id": "ENSP00000518920.1",
"transcript_support_level": null,
"aa_start": 179,
"aa_end": null,
"aa_length": 3158,
"cds_start": 536,
"cds_end": null,
"cds_length": 9477,
"cdna_start": 882,
"cdna_end": null,
"cdna_length": 13537,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP350",
"gene_hgnc_id": 24238,
"hgvs_c": "c.533G>A",
"hgvs_p": "p.Cys178Tyr",
"transcript": "ENST00000417046.2",
"protein_id": "ENSP00000401608.2",
"transcript_support_level": 2,
"aa_start": 178,
"aa_end": null,
"aa_length": 3116,
"cds_start": 533,
"cds_end": null,
"cds_length": 9351,
"cdna_start": 1161,
"cdna_end": null,
"cdna_length": 12437,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP350",
"gene_hgnc_id": 24238,
"hgvs_c": "c.536G>A",
"hgvs_p": "p.Cys179Tyr",
"transcript": "XM_047435376.1",
"protein_id": "XP_047291332.1",
"transcript_support_level": null,
"aa_start": 179,
"aa_end": null,
"aa_length": 3189,
"cds_start": 536,
"cds_end": null,
"cds_length": 9570,
"cdna_start": 746,
"cdna_end": null,
"cdna_length": 12253,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP350",
"gene_hgnc_id": 24238,
"hgvs_c": "c.533G>A",
"hgvs_p": "p.Cys178Tyr",
"transcript": "XM_047435377.1",
"protein_id": "XP_047291333.1",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 3166,
"cds_start": 533,
"cds_end": null,
"cds_length": 9501,
"cdna_start": 742,
"cdna_end": null,
"cdna_length": 13424,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP350",
"gene_hgnc_id": 24238,
"hgvs_c": "c.533G>A",
"hgvs_p": "p.Cys178Tyr",
"transcript": "XM_047435378.1",
"protein_id": "XP_047291334.1",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 3165,
"cds_start": 533,
"cds_end": null,
"cds_length": 9498,
"cdna_start": 743,
"cdna_end": null,
"cdna_length": 13422,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP350",
"gene_hgnc_id": 24238,
"hgvs_c": "c.533G>A",
"hgvs_p": "p.Cys178Tyr",
"transcript": "XM_047435382.1",
"protein_id": "XP_047291338.1",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 3162,
"cds_start": 533,
"cds_end": null,
"cds_length": 9489,
"cdna_start": 743,
"cdna_end": null,
"cdna_length": 13413,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP350",
"gene_hgnc_id": 24238,
"hgvs_c": "c.536G>A",
"hgvs_p": "p.Cys179Tyr",
"transcript": "XM_047435384.1",
"protein_id": "XP_047291340.1",
"transcript_support_level": null,
"aa_start": 179,
"aa_end": null,
"aa_length": 3157,
"cds_start": 536,
"cds_end": null,
"cds_length": 9474,
"cdna_start": 745,
"cdna_end": null,
"cdna_length": 13397,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP350",
"gene_hgnc_id": 24238,
"hgvs_c": "c.536G>A",
"hgvs_p": "p.Cys179Tyr",
"transcript": "XM_047435387.1",
"protein_id": "XP_047291343.1",
"transcript_support_level": null,
"aa_start": 179,
"aa_end": null,
"aa_length": 3148,
"cds_start": 536,
"cds_end": null,
"cds_length": 9447,
"cdna_start": 745,
"cdna_end": null,
"cdna_length": 12129,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP350",
"gene_hgnc_id": 24238,
"hgvs_c": "c.470G>A",
"hgvs_p": "p.Cys157Tyr",
"transcript": "XM_047435392.1",
"protein_id": "XP_047291348.1",
"transcript_support_level": null,
"aa_start": 157,
"aa_end": null,
"aa_length": 3145,
"cds_start": 470,
"cds_end": null,
"cds_length": 9438,
"cdna_start": 764,
"cdna_end": null,
"cdna_length": 13446,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP350",
"gene_hgnc_id": 24238,
"hgvs_c": "c.536G>A",
"hgvs_p": "p.Cys179Tyr",
"transcript": "XM_047435394.1",
"protein_id": "XP_047291350.1",
"transcript_support_level": null,
"aa_start": 179,
"aa_end": null,
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"cds_start": 536,
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"cdna_start": 745,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP350",
"gene_hgnc_id": 24238,
"hgvs_c": "c.470G>A",
"hgvs_p": "p.Cys157Tyr",
"transcript": "XM_047435399.1",
"protein_id": "XP_047291355.1",
"transcript_support_level": null,
"aa_start": 157,
"aa_end": null,
"aa_length": 3141,
"cds_start": 470,
"cds_end": null,
"cds_length": 9426,
"cdna_start": 764,
"cdna_end": null,
"cdna_length": 13434,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP350",
"gene_hgnc_id": 24238,
"hgvs_c": "c.470G>A",
"hgvs_p": "p.Cys157Tyr",
"transcript": "XM_047435400.1",
"protein_id": "XP_047291356.1",
"transcript_support_level": null,
"aa_start": 157,
"aa_end": null,
"aa_length": 3126,
"cds_start": 470,
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"cdna_start": 764,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP350",
"gene_hgnc_id": 24238,
"hgvs_c": "c.536G>A",
"hgvs_p": "p.Cys179Tyr",
"transcript": "XM_047435401.1",
"protein_id": "XP_047291357.1",
"transcript_support_level": null,
"aa_start": 179,
"aa_end": null,
"aa_length": 3126,
"cds_start": 536,
"cds_end": null,
"cds_length": 9381,
"cdna_start": 745,
"cdna_end": null,
"cdna_length": 12063,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP350",
"gene_hgnc_id": 24238,
"hgvs_c": "c.533G>A",
"hgvs_p": "p.Cys178Tyr",
"transcript": "XM_047435402.1",
"protein_id": "XP_047291358.1",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 3125,
"cds_start": 533,
"cds_end": null,
"cds_length": 9378,
"cdna_start": 742,
"cdna_end": null,
"cdna_length": 13301,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP350",
"gene_hgnc_id": 24238,
"hgvs_c": "c.536G>A",
"hgvs_p": "p.Cys179Tyr",
"transcript": "XM_047435403.1",
"protein_id": "XP_047291359.1",
"transcript_support_level": null,
"aa_start": 179,
"aa_end": null,
"aa_length": 3125,
"cds_start": 536,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP350",
"gene_hgnc_id": 24238,
"hgvs_c": "c.536G>A",
"hgvs_p": "p.Cys179Tyr",
"transcript": "XM_047435404.1",
"protein_id": "XP_047291360.1",
"transcript_support_level": null,
"aa_start": 179,
"aa_end": null,
"aa_length": 3122,
"cds_start": 536,
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"cdna_start": 745,
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"cdna_length": 13292,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP350",
"gene_hgnc_id": 24238,
"hgvs_c": "c.536G>A",
"hgvs_p": "p.Cys179Tyr",
"transcript": "XM_047435406.1",
"protein_id": "XP_047291362.1",
"transcript_support_level": null,
"aa_start": 179,
"aa_end": null,
"aa_length": 3117,
"cds_start": 536,
"cds_end": null,
"cds_length": 9354,
"cdna_start": 745,
"cdna_end": null,
"cdna_length": 12036,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP350",
"gene_hgnc_id": 24238,
"hgvs_c": "c.533G>A",
"hgvs_p": "p.Cys178Tyr",
"transcript": "XM_047435414.1",
"protein_id": "XP_047291370.1",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 3116,
"cds_start": 533,
"cds_end": null,
"cds_length": 9351,
"cdna_start": 741,
"cdna_end": null,
"cdna_length": 13273,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP350",
"gene_hgnc_id": 24238,
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"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
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],
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"exon_count": 16,
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},
{
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"strand": true,
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],
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"gene_symbol": "CEP350",
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"transcript": "ENST00000706265.1",
"protein_id": "ENSP00000516311.1",
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},
{
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"strand": false,
"consequences": [
"intron_variant"
],
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},
{
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"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
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"gene_symbol": "ENSG00000303101",
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"feature": null
}
],
"gene_symbol": "CEP350",
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"dbsnp": "rs147004969",
"frequency_reference_population": 0.00014749062,
"hom_count_reference_population": 2,
"allele_count_reference_population": 238,
"gnomad_exomes_af": 0.000149177,
"gnomad_genomes_af": 0.000131309,
"gnomad_exomes_ac": 218,
"gnomad_genomes_ac": 20,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 1,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0393671989440918,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.045,
"revel_prediction": "Benign",
"alphamissense_score": 0.0956,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.41,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.903,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_014810.5",
"gene_symbol": "CEP350",
"hgnc_id": 24238,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.536G>A",
"hgvs_p": "p.Cys179Tyr"
},
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000791713.1",
"gene_symbol": "ENSG00000303101",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.168-12173C>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
}