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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: 7-92494357-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=92494357&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 92494357,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_000466.3",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEX1",
"gene_hgnc_id": 8850,
"hgvs_c": "c.2966T>C",
"hgvs_p": "p.Ile989Thr",
"transcript": "NM_000466.3",
"protein_id": "NP_000457.1",
"transcript_support_level": null,
"aa_start": 989,
"aa_end": null,
"aa_length": 1283,
"cds_start": 2966,
"cds_end": null,
"cds_length": 3852,
"cdna_start": 3051,
"cdna_end": null,
"cdna_length": 4369,
"mane_select": "ENST00000248633.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000466.3"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEX1",
"gene_hgnc_id": 8850,
"hgvs_c": "c.2966T>C",
"hgvs_p": "p.Ile989Thr",
"transcript": "ENST00000248633.9",
"protein_id": "ENSP00000248633.4",
"transcript_support_level": 1,
"aa_start": 989,
"aa_end": null,
"aa_length": 1283,
"cds_start": 2966,
"cds_end": null,
"cds_length": 3852,
"cdna_start": 3051,
"cdna_end": null,
"cdna_length": 4369,
"mane_select": "NM_000466.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000248633.9"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEX1",
"gene_hgnc_id": 8850,
"hgvs_c": "c.2795T>C",
"hgvs_p": "p.Ile932Thr",
"transcript": "ENST00000428214.5",
"protein_id": "ENSP00000394413.1",
"transcript_support_level": 1,
"aa_start": 932,
"aa_end": null,
"aa_length": 1226,
"cds_start": 2795,
"cds_end": null,
"cds_length": 3681,
"cdna_start": 2795,
"cdna_end": null,
"cdna_length": 3681,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000428214.5"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEX1",
"gene_hgnc_id": 8850,
"hgvs_c": "c.2966T>C",
"hgvs_p": "p.Ile989Thr",
"transcript": "ENST00000951788.1",
"protein_id": "ENSP00000621847.1",
"transcript_support_level": null,
"aa_start": 989,
"aa_end": null,
"aa_length": 1301,
"cds_start": 2966,
"cds_end": null,
"cds_length": 3906,
"cdna_start": 3042,
"cdna_end": null,
"cdna_length": 4411,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951788.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEX1",
"gene_hgnc_id": 8850,
"hgvs_c": "c.2966T>C",
"hgvs_p": "p.Ile989Thr",
"transcript": "ENST00000914336.1",
"protein_id": "ENSP00000584395.1",
"transcript_support_level": null,
"aa_start": 989,
"aa_end": null,
"aa_length": 1282,
"cds_start": 2966,
"cds_end": null,
"cds_length": 3849,
"cdna_start": 3031,
"cdna_end": null,
"cdna_length": 4347,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914336.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEX1",
"gene_hgnc_id": 8850,
"hgvs_c": "c.2960T>C",
"hgvs_p": "p.Ile987Thr",
"transcript": "ENST00000914337.1",
"protein_id": "ENSP00000584396.1",
"transcript_support_level": null,
"aa_start": 987,
"aa_end": null,
"aa_length": 1281,
"cds_start": 2960,
"cds_end": null,
"cds_length": 3846,
"cdna_start": 3008,
"cdna_end": null,
"cdna_length": 4331,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914337.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEX1",
"gene_hgnc_id": 8850,
"hgvs_c": "c.2966T>C",
"hgvs_p": "p.Ile989Thr",
"transcript": "ENST00000951786.1",
"protein_id": "ENSP00000621845.1",
"transcript_support_level": null,
"aa_start": 989,
"aa_end": null,
"aa_length": 1280,
"cds_start": 2966,
"cds_end": null,
"cds_length": 3843,
"cdna_start": 3171,
"cdna_end": null,
"cdna_length": 4479,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951786.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEX1",
"gene_hgnc_id": 8850,
"hgvs_c": "c.2966T>C",
"hgvs_p": "p.Ile989Thr",
"transcript": "ENST00000951787.1",
"protein_id": "ENSP00000621846.1",
"transcript_support_level": null,
"aa_start": 989,
"aa_end": null,
"aa_length": 1268,
"cds_start": 2966,
"cds_end": null,
"cds_length": 3807,
"cdna_start": 3066,
"cdna_end": null,
"cdna_length": 4338,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951787.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEX1",
"gene_hgnc_id": 8850,
"hgvs_c": "c.2966T>C",
"hgvs_p": "p.Ile989Thr",
"transcript": "ENST00000951789.1",
"protein_id": "ENSP00000621848.1",
"transcript_support_level": null,
"aa_start": 989,
"aa_end": null,
"aa_length": 1256,
"cds_start": 2966,
"cds_end": null,
"cds_length": 3771,
"cdna_start": 3038,
"cdna_end": null,
"cdna_length": 4275,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951789.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEX1",
"gene_hgnc_id": 8850,
"hgvs_c": "c.2882T>C",
"hgvs_p": "p.Ile961Thr",
"transcript": "ENST00000951790.1",
"protein_id": "ENSP00000621849.1",
"transcript_support_level": null,
"aa_start": 961,
"aa_end": null,
"aa_length": 1255,
"cds_start": 2882,
"cds_end": null,
"cds_length": 3768,
"cdna_start": 2982,
"cdna_end": null,
"cdna_length": 4188,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951790.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEX1",
"gene_hgnc_id": 8850,
"hgvs_c": "c.2846T>C",
"hgvs_p": "p.Ile949Thr",
"transcript": "ENST00000901045.1",
"protein_id": "ENSP00000571104.1",
"transcript_support_level": null,
"aa_start": 949,
"aa_end": null,
"aa_length": 1243,
"cds_start": 2846,
"cds_end": null,
"cds_length": 3732,
"cdna_start": 2953,
"cdna_end": null,
"cdna_length": 4271,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901045.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEX1",
"gene_hgnc_id": 8850,
"hgvs_c": "c.2822T>C",
"hgvs_p": "p.Ile941Thr",
"transcript": "ENST00000914334.1",
"protein_id": "ENSP00000584393.1",
"transcript_support_level": null,
"aa_start": 941,
"aa_end": null,
"aa_length": 1235,
"cds_start": 2822,
"cds_end": null,
"cds_length": 3708,
"cdna_start": 2906,
"cdna_end": null,
"cdna_length": 4223,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914334.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEX1",
"gene_hgnc_id": 8850,
"hgvs_c": "c.2795T>C",
"hgvs_p": "p.Ile932Thr",
"transcript": "NM_001282677.2",
"protein_id": "NP_001269606.1",
"transcript_support_level": null,
"aa_start": 932,
"aa_end": null,
"aa_length": 1226,
"cds_start": 2795,
"cds_end": null,
"cds_length": 3681,
"cdna_start": 2880,
"cdna_end": null,
"cdna_length": 4198,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282677.2"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEX1",
"gene_hgnc_id": 8850,
"hgvs_c": "c.2966T>C",
"hgvs_p": "p.Ile989Thr",
"transcript": "ENST00000914335.1",
"protein_id": "ENSP00000584394.1",
"transcript_support_level": null,
"aa_start": 989,
"aa_end": null,
"aa_length": 1217,
"cds_start": 2966,
"cds_end": null,
"cds_length": 3654,
"cdna_start": 3045,
"cdna_end": null,
"cdna_length": 4164,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914335.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEX1",
"gene_hgnc_id": 8850,
"hgvs_c": "c.2684T>C",
"hgvs_p": "p.Ile895Thr",
"transcript": "ENST00000914338.1",
"protein_id": "ENSP00000584397.1",
"transcript_support_level": null,
"aa_start": 895,
"aa_end": null,
"aa_length": 1189,
"cds_start": 2684,
"cds_end": null,
"cds_length": 3570,
"cdna_start": 2735,
"cdna_end": null,
"cdna_length": 4050,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914338.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEX1",
"gene_hgnc_id": 8850,
"hgvs_c": "c.2342T>C",
"hgvs_p": "p.Ile781Thr",
"transcript": "NM_001282678.2",
"protein_id": "NP_001269607.1",
"transcript_support_level": null,
"aa_start": 781,
"aa_end": null,
"aa_length": 1075,
"cds_start": 2342,
"cds_end": null,
"cds_length": 3228,
"cdna_start": 3086,
"cdna_end": null,
"cdna_length": 4404,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282678.2"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEX1",
"gene_hgnc_id": 8850,
"hgvs_c": "c.2000T>C",
"hgvs_p": "p.Ile667Thr",
"transcript": "ENST00000438045.5",
"protein_id": "ENSP00000410438.1",
"transcript_support_level": 2,
"aa_start": 667,
"aa_end": null,
"aa_length": 961,
"cds_start": 2000,
"cds_end": null,
"cds_length": 2886,
"cdna_start": 2006,
"cdna_end": null,
"cdna_length": 3329,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000438045.5"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEX1",
"gene_hgnc_id": 8850,
"hgvs_c": "c.2966T>C",
"hgvs_p": "p.Ile989Thr",
"transcript": "XM_047420472.1",
"protein_id": "XP_047276428.1",
"transcript_support_level": null,
"aa_start": 989,
"aa_end": null,
"aa_length": 1227,
"cds_start": 2966,
"cds_end": null,
"cds_length": 3684,
"cdna_start": 3051,
"cdna_end": null,
"cdna_length": 3846,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047420472.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEX1",
"gene_hgnc_id": 8850,
"hgvs_c": "c.1217T>C",
"hgvs_p": "p.Ile406Thr",
"transcript": "XM_047420473.1",
"protein_id": "XP_047276429.1",
"transcript_support_level": null,
"aa_start": 406,
"aa_end": null,
"aa_length": 700,
"cds_start": 1217,
"cds_end": null,
"cds_length": 2103,
"cdna_start": 1385,
"cdna_end": null,
"cdna_length": 2703,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047420473.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEX1",
"gene_hgnc_id": 8850,
"hgvs_c": "n.3005T>C",
"hgvs_p": null,
"transcript": "ENST00000484913.5",
"protein_id": null,
"transcript_support_level": 2,
"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": 4051,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000484913.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEX1",
"gene_hgnc_id": 8850,
"hgvs_c": "n.2858T>C",
"hgvs_p": null,
"transcript": "ENST00000496420.5",
"protein_id": null,
"transcript_support_level": 2,
"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": 5333,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000496420.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000244055",
"gene_hgnc_id": null,
"hgvs_c": "n.3689A>G",
"hgvs_p": null,
"transcript": "ENST00000658444.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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{
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"protein_coding": false,
"strand": true,
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"exon_count": 7,
"intron_rank": null,
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"transcript": "XR_927494.4",
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"aa_length": null,
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"biotype": "pseudogene",
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{
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"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
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"exon_count": 6,
"intron_rank": null,
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"gene_symbol": "GATAD1",
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},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
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"gene_symbol": "ENSG00000244055",
"gene_hgnc_id": null,
"hgvs_c": "n.153+16538A>G",
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"transcript": "ENST00000746412.1",
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"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"cdna_length": 389,
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"biotype": "pseudogene",
"feature": "ENST00000746412.1"
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],
"gene_symbol": "PEX1",
"gene_hgnc_id": 8850,
"dbsnp": "rs61750427",
"frequency_reference_population": 0.000022923388,
"hom_count_reference_population": 0,
"allele_count_reference_population": 37,
"gnomad_exomes_af": 0.0000205239,
"gnomad_genomes_af": 0.0000459444,
"gnomad_exomes_ac": 30,
"gnomad_genomes_ac": 7,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7802396416664124,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.969,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.7424,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.55,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.321,
"phylop100way_prediction": "Pathogenic",
"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": 9,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PP3,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 9,
"benign_score": 0,
"pathogenic_score": 9,
"criteria": [
"PP3",
"PP5_Very_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_000466.3",
"gene_symbol": "PEX1",
"hgnc_id": 8850,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2966T>C",
"hgvs_p": "p.Ile989Thr"
},
{
"score": 9,
"benign_score": 0,
"pathogenic_score": 9,
"criteria": [
"PP3",
"PP5_Very_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000658444.1",
"gene_symbol": "ENSG00000244055",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.3689A>G",
"hgvs_p": null
},
{
"score": 9,
"benign_score": 0,
"pathogenic_score": 9,
"criteria": [
"PP3",
"PP5_Very_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "XR_927494.4",
"gene_symbol": "GATAD1",
"hgnc_id": 29941,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "n.4143A>G",
"hgvs_p": null
}
],
"clinvar_disease": "Heimler syndrome 1,Inborn genetic diseases,Peroxisome biogenesis disorder,Peroxisome biogenesis disorder 1A (Zellweger),Peroxisome biogenesis disorder 1B,Zellweger spectrum disorders,not provided",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:4 LP:4",
"phenotype_combined": "Heimler syndrome 1|Peroxisome biogenesis disorder 1B;Peroxisome biogenesis disorder 1A (Zellweger)|Zellweger spectrum disorders|not provided|Inborn genetic diseases|Peroxisome biogenesis disorder 1B;Peroxisome biogenesis disorder 1A (Zellweger);Heimler syndrome 1|Peroxisome biogenesis disorder",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}