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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: 8-76984088-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=76984088&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 76984088,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_000318.3",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "E",
"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": "PEX2",
"gene_hgnc_id": 9717,
"hgvs_c": "c.91C>G",
"hgvs_p": "p.Gln31Glu",
"transcript": "NM_000318.3",
"protein_id": "NP_000309.2",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 305,
"cds_start": 91,
"cds_end": null,
"cds_length": 918,
"cdna_start": 339,
"cdna_end": null,
"cdna_length": 4169,
"mane_select": "ENST00000357039.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000318.3"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"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": "PEX2",
"gene_hgnc_id": 9717,
"hgvs_c": "c.91C>G",
"hgvs_p": "p.Gln31Glu",
"transcript": "ENST00000357039.9",
"protein_id": "ENSP00000349543.4",
"transcript_support_level": 1,
"aa_start": 31,
"aa_end": null,
"aa_length": 305,
"cds_start": 91,
"cds_end": null,
"cds_length": 918,
"cdna_start": 339,
"cdna_end": null,
"cdna_length": 4169,
"mane_select": "NM_000318.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000357039.9"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEX2",
"gene_hgnc_id": 9717,
"hgvs_c": "c.91C>G",
"hgvs_p": "p.Gln31Glu",
"transcript": "ENST00000522527.5",
"protein_id": "ENSP00000428638.1",
"transcript_support_level": 1,
"aa_start": 31,
"aa_end": null,
"aa_length": 305,
"cds_start": 91,
"cds_end": null,
"cds_length": 918,
"cdna_start": 496,
"cdna_end": null,
"cdna_length": 1627,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000522527.5"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEX2",
"gene_hgnc_id": 9717,
"hgvs_c": "c.91C>G",
"hgvs_p": "p.Gln31Glu",
"transcript": "NM_001079867.2",
"protein_id": "NP_001073336.2",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 305,
"cds_start": 91,
"cds_end": null,
"cds_length": 918,
"cdna_start": 307,
"cdna_end": null,
"cdna_length": 4137,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001079867.2"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"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": "PEX2",
"gene_hgnc_id": 9717,
"hgvs_c": "c.91C>G",
"hgvs_p": "p.Gln31Glu",
"transcript": "NM_001172086.2",
"protein_id": "NP_001165557.2",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 305,
"cds_start": 91,
"cds_end": null,
"cds_length": 918,
"cdna_start": 555,
"cdna_end": null,
"cdna_length": 4385,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001172086.2"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEX2",
"gene_hgnc_id": 9717,
"hgvs_c": "c.91C>G",
"hgvs_p": "p.Gln31Glu",
"transcript": "NM_001172087.2",
"protein_id": "NP_001165558.2",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 305,
"cds_start": 91,
"cds_end": null,
"cds_length": 918,
"cdna_start": 413,
"cdna_end": null,
"cdna_length": 4243,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001172087.2"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEX2",
"gene_hgnc_id": 9717,
"hgvs_c": "c.91C>G",
"hgvs_p": "p.Gln31Glu",
"transcript": "ENST00000520103.5",
"protein_id": "ENSP00000428590.1",
"transcript_support_level": 2,
"aa_start": 31,
"aa_end": null,
"aa_length": 305,
"cds_start": 91,
"cds_end": null,
"cds_length": 918,
"cdna_start": 316,
"cdna_end": null,
"cdna_length": 1470,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000520103.5"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEX2",
"gene_hgnc_id": 9717,
"hgvs_c": "c.91C>G",
"hgvs_p": "p.Gln31Glu",
"transcript": "ENST00000898979.1",
"protein_id": "ENSP00000569038.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 305,
"cds_start": 91,
"cds_end": null,
"cds_length": 918,
"cdna_start": 344,
"cdna_end": null,
"cdna_length": 2938,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898979.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"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": "PEX2",
"gene_hgnc_id": 9717,
"hgvs_c": "c.91C>G",
"hgvs_p": "p.Gln31Glu",
"transcript": "ENST00000898980.1",
"protein_id": "ENSP00000569039.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 305,
"cds_start": 91,
"cds_end": null,
"cds_length": 918,
"cdna_start": 384,
"cdna_end": null,
"cdna_length": 2411,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898980.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"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": "PEX2",
"gene_hgnc_id": 9717,
"hgvs_c": "c.91C>G",
"hgvs_p": "p.Gln31Glu",
"transcript": "ENST00000898981.1",
"protein_id": "ENSP00000569040.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 305,
"cds_start": 91,
"cds_end": null,
"cds_length": 918,
"cdna_start": 406,
"cdna_end": null,
"cdna_length": 2433,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898981.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEX2",
"gene_hgnc_id": 9717,
"hgvs_c": "c.91C>G",
"hgvs_p": "p.Gln31Glu",
"transcript": "ENST00000898982.1",
"protein_id": "ENSP00000569041.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 305,
"cds_start": 91,
"cds_end": null,
"cds_length": 918,
"cdna_start": 339,
"cdna_end": null,
"cdna_length": 1505,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898982.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"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": "PEX2",
"gene_hgnc_id": 9717,
"hgvs_c": "c.91C>G",
"hgvs_p": "p.Gln31Glu",
"transcript": "ENST00000898983.1",
"protein_id": "ENSP00000569042.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 305,
"cds_start": 91,
"cds_end": null,
"cds_length": 918,
"cdna_start": 366,
"cdna_end": null,
"cdna_length": 1533,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898983.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEX2",
"gene_hgnc_id": 9717,
"hgvs_c": "c.91C>G",
"hgvs_p": "p.Gln31Glu",
"transcript": "ENST00000898984.1",
"protein_id": "ENSP00000569043.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 305,
"cds_start": 91,
"cds_end": null,
"cds_length": 918,
"cdna_start": 264,
"cdna_end": null,
"cdna_length": 1431,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898984.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEX2",
"gene_hgnc_id": 9717,
"hgvs_c": "c.91C>G",
"hgvs_p": "p.Gln31Glu",
"transcript": "ENST00000898985.1",
"protein_id": "ENSP00000569044.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 305,
"cds_start": 91,
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"cdna_start": 339,
"cdna_end": null,
"cdna_length": 1506,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898985.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEX2",
"gene_hgnc_id": 9717,
"hgvs_c": "c.91C>G",
"hgvs_p": "p.Gln31Glu",
"transcript": "ENST00000898986.1",
"protein_id": "ENSP00000569045.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 305,
"cds_start": 91,
"cds_end": null,
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"cdna_start": 229,
"cdna_end": null,
"cdna_length": 1396,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898986.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
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"gene_symbol": "PEX2",
"gene_hgnc_id": 9717,
"hgvs_c": "c.91C>G",
"hgvs_p": "p.Gln31Glu",
"transcript": "ENST00000898987.1",
"protein_id": "ENSP00000569046.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 305,
"cds_start": 91,
"cds_end": null,
"cds_length": 918,
"cdna_start": 4324,
"cdna_end": null,
"cdna_length": 5489,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898987.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEX2",
"gene_hgnc_id": 9717,
"hgvs_c": "c.91C>G",
"hgvs_p": "p.Gln31Glu",
"transcript": "ENST00000898988.1",
"protein_id": "ENSP00000569047.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 305,
"cds_start": 91,
"cds_end": null,
"cds_length": 918,
"cdna_start": 2949,
"cdna_end": null,
"cdna_length": 4976,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898988.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEX2",
"gene_hgnc_id": 9717,
"hgvs_c": "c.91C>G",
"hgvs_p": "p.Gln31Glu",
"transcript": "ENST00000898989.1",
"protein_id": "ENSP00000569048.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 305,
"cds_start": 91,
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"cdna_start": 805,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898989.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEX2",
"gene_hgnc_id": 9717,
"hgvs_c": "c.91C>G",
"hgvs_p": "p.Gln31Glu",
"transcript": "ENST00000898990.1",
"protein_id": "ENSP00000569049.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 305,
"cds_start": 91,
"cds_end": null,
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"cdna_start": 2252,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898990.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEX2",
"gene_hgnc_id": 9717,
"hgvs_c": "c.91C>G",
"hgvs_p": "p.Gln31Glu",
"transcript": "ENST00000898991.1",
"protein_id": "ENSP00000569050.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 305,
"cds_start": 91,
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"cdna_start": 310,
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"cdna_length": 2337,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898991.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEX2",
"gene_hgnc_id": 9717,
"hgvs_c": "c.91C>G",
"hgvs_p": "p.Gln31Glu",
"transcript": "ENST00000933667.1",
"protein_id": "ENSP00000603726.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 305,
"cds_start": 91,
"cds_end": null,
"cds_length": 918,
"cdna_start": 2344,
"cdna_end": null,
"cdna_length": 4371,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933667.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"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": "PEX2",
"gene_hgnc_id": 9717,
"hgvs_c": "c.91C>G",
"hgvs_p": "p.Gln31Glu",
"transcript": "ENST00000933668.1",
"protein_id": "ENSP00000603727.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 305,
"cds_start": 91,
"cds_end": null,
"cds_length": 918,
"cdna_start": 415,
"cdna_end": null,
"cdna_length": 1579,
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{
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{
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"gene_symbol": "PEX2",
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"biotype": "protein_coding",
"feature": "ENST00000519956.1"
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],
"gene_symbol": "PEX2",
"gene_hgnc_id": 9717,
"dbsnp": "rs149287302",
"frequency_reference_population": 0.0015764575,
"hom_count_reference_population": 17,
"allele_count_reference_population": 2542,
"gnomad_exomes_af": 0.00155178,
"gnomad_genomes_af": 0.00181321,
"gnomad_exomes_ac": 2266,
"gnomad_genomes_ac": 276,
"gnomad_exomes_homalt": 14,
"gnomad_genomes_homalt": 3,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.012903988361358643,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.352,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.0784,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.24,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.637,
"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": "Benign",
"acmg_criteria": "BP4_Strong,BP6,BS2",
"acmg_by_gene": [
{
"score": -9,
"benign_score": 9,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_000318.3",
"gene_symbol": "PEX2",
"hgnc_id": 9717,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.91C>G",
"hgvs_p": "p.Gln31Glu"
}
],
"clinvar_disease": "PEX2-related disorder,Peroxisome biogenesis disorder 5A (Zellweger),Peroxisome biogenesis disorder 5B,Zellweger spectrum disorders,not provided,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:2 LB:3 B:2",
"phenotype_combined": "not specified|Peroxisome biogenesis disorder 5A (Zellweger)|Zellweger spectrum disorders|Peroxisome biogenesis disorder 5A (Zellweger);Peroxisome biogenesis disorder 5B|PEX2-related disorder|not provided",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}