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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: 2-227330777-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=227330777&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 227330777,
"ref": "C",
"alt": "T",
"effect": "stop_gained",
"transcript": "ENST00000304593.14",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFF",
"gene_hgnc_id": 24858,
"hgvs_c": "c.112C>T",
"hgvs_p": "p.Gln38*",
"transcript": "NM_001277062.2",
"protein_id": "NP_001263991.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 291,
"cds_start": 112,
"cds_end": null,
"cds_length": 876,
"cdna_start": 441,
"cdna_end": null,
"cdna_length": 1921,
"mane_select": "ENST00000304593.14",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFF",
"gene_hgnc_id": 24858,
"hgvs_c": "c.112C>T",
"hgvs_p": "p.Gln38*",
"transcript": "ENST00000304593.14",
"protein_id": "ENSP00000304898.10",
"transcript_support_level": 2,
"aa_start": 38,
"aa_end": null,
"aa_length": 291,
"cds_start": 112,
"cds_end": null,
"cds_length": 876,
"cdna_start": 441,
"cdna_end": null,
"cdna_length": 1921,
"mane_select": "NM_001277062.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFF",
"gene_hgnc_id": 24858,
"hgvs_c": "c.112C>T",
"hgvs_p": "p.Gln38*",
"transcript": "ENST00000337110.11",
"protein_id": "ENSP00000338412.7",
"transcript_support_level": 1,
"aa_start": 38,
"aa_end": null,
"aa_length": 243,
"cds_start": 112,
"cds_end": null,
"cds_length": 732,
"cdna_start": 424,
"cdna_end": null,
"cdna_length": 1760,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFF",
"gene_hgnc_id": 24858,
"hgvs_c": "c.190C>T",
"hgvs_p": "p.Gln64*",
"transcript": "NM_001277061.2",
"protein_id": "NP_001263990.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 342,
"cds_start": 190,
"cds_end": null,
"cds_length": 1029,
"cdna_start": 619,
"cdna_end": null,
"cdna_length": 2174,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFF",
"gene_hgnc_id": 24858,
"hgvs_c": "c.190C>T",
"hgvs_p": "p.Gln64*",
"transcript": "NM_020194.5",
"protein_id": "NP_064579.3",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 342,
"cds_start": 190,
"cds_end": null,
"cds_length": 1029,
"cdna_start": 456,
"cdna_end": null,
"cdna_length": 2014,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFF",
"gene_hgnc_id": 24858,
"hgvs_c": "c.190C>T",
"hgvs_p": "p.Gln64*",
"transcript": "ENST00000353339.8",
"protein_id": "ENSP00000302037.4",
"transcript_support_level": 5,
"aa_start": 64,
"aa_end": null,
"aa_length": 342,
"cds_start": 190,
"cds_end": null,
"cds_length": 1029,
"cdna_start": 619,
"cdna_end": null,
"cdna_length": 2174,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFF",
"gene_hgnc_id": 24858,
"hgvs_c": "c.112C>T",
"hgvs_p": "p.Gln38*",
"transcript": "ENST00000707109.1",
"protein_id": "ENSP00000516738.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 316,
"cds_start": 112,
"cds_end": null,
"cds_length": 951,
"cdna_start": 426,
"cdna_end": null,
"cdna_length": 1955,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFF",
"gene_hgnc_id": 24858,
"hgvs_c": "c.112C>T",
"hgvs_p": "p.Gln38*",
"transcript": "ENST00000707111.1",
"protein_id": "ENSP00000516740.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 302,
"cds_start": 112,
"cds_end": null,
"cds_length": 909,
"cdna_start": 269,
"cdna_end": null,
"cdna_length": 1628,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFF",
"gene_hgnc_id": 24858,
"hgvs_c": "c.190C>T",
"hgvs_p": "p.Gln64*",
"transcript": "ENST00000707110.1",
"protein_id": "ENSP00000516739.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 300,
"cds_start": 190,
"cds_end": null,
"cds_length": 903,
"cdna_start": 555,
"cdna_end": null,
"cdna_length": 1329,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFF",
"gene_hgnc_id": 24858,
"hgvs_c": "c.112C>T",
"hgvs_p": "p.Gln38*",
"transcript": "ENST00000456345.2",
"protein_id": "ENSP00000415313.2",
"transcript_support_level": 2,
"aa_start": 38,
"aa_end": null,
"aa_length": 271,
"cds_start": 112,
"cds_end": null,
"cds_length": 816,
"cdna_start": 371,
"cdna_end": null,
"cdna_length": 1713,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFF",
"gene_hgnc_id": 24858,
"hgvs_c": "c.190C>T",
"hgvs_p": "p.Gln64*",
"transcript": "ENST00000409616.5",
"protein_id": "ENSP00000386641.2",
"transcript_support_level": 5,
"aa_start": 64,
"aa_end": null,
"aa_length": 264,
"cds_start": 190,
"cds_end": null,
"cds_length": 795,
"cdna_start": 608,
"cdna_end": null,
"cdna_length": 1247,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFF",
"gene_hgnc_id": 24858,
"hgvs_c": "c.112C>T",
"hgvs_p": "p.Gln38*",
"transcript": "NM_001277068.1",
"protein_id": "NP_001263997.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 252,
"cds_start": 112,
"cds_end": null,
"cds_length": 759,
"cdna_start": 264,
"cdna_end": null,
"cdna_length": 1630,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFF",
"gene_hgnc_id": 24858,
"hgvs_c": "c.112C>T",
"hgvs_p": "p.Gln38*",
"transcript": "NM_001277063.2",
"protein_id": "NP_001263992.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 243,
"cds_start": 112,
"cds_end": null,
"cds_length": 732,
"cdna_start": 441,
"cdna_end": null,
"cdna_length": 1777,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFF",
"gene_hgnc_id": 24858,
"hgvs_c": "c.112C>T",
"hgvs_p": "p.Gln38*",
"transcript": "NM_001277064.2",
"protein_id": "NP_001263993.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 238,
"cds_start": 112,
"cds_end": null,
"cds_length": 717,
"cdna_start": 441,
"cdna_end": null,
"cdna_length": 1762,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFF",
"gene_hgnc_id": 24858,
"hgvs_c": "c.112C>T",
"hgvs_p": "p.Gln38*",
"transcript": "ENST00000349901.11",
"protein_id": "ENSP00000304134.9",
"transcript_support_level": 2,
"aa_start": 38,
"aa_end": null,
"aa_length": 238,
"cds_start": 112,
"cds_end": null,
"cds_length": 717,
"cdna_start": 416,
"cdna_end": null,
"cdna_length": 1716,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFF",
"gene_hgnc_id": 24858,
"hgvs_c": "c.112C>T",
"hgvs_p": "p.Gln38*",
"transcript": "NM_001277065.2",
"protein_id": "NP_001263994.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 218,
"cds_start": 112,
"cds_end": null,
"cds_length": 657,
"cdna_start": 441,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFF",
"gene_hgnc_id": 24858,
"hgvs_c": "c.112C>T",
"hgvs_p": "p.Gln38*",
"transcript": "NM_001277066.2",
"protein_id": "NP_001263995.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 218,
"cds_start": 112,
"cds_end": null,
"cds_length": 657,
"cdna_start": 329,
"cdna_end": null,
"cdna_length": 1590,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFF",
"gene_hgnc_id": 24858,
"hgvs_c": "c.112C>T",
"hgvs_p": "p.Gln38*",
"transcript": "ENST00000354503.10",
"protein_id": "ENSP00000346498.6",
"transcript_support_level": 2,
"aa_start": 38,
"aa_end": null,
"aa_length": 218,
"cds_start": 112,
"cds_end": null,
"cds_length": 657,
"cdna_start": 442,
"cdna_end": null,
"cdna_length": 1085,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFF",
"gene_hgnc_id": 24858,
"hgvs_c": "c.112C>T",
"hgvs_p": "p.Gln38*",
"transcript": "ENST00000409565.5",
"protein_id": "ENSP00000386964.1",
"transcript_support_level": 2,
"aa_start": 38,
"aa_end": null,
"aa_length": 218,
"cds_start": 112,
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"cdna_start": 321,
"cdna_end": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFF",
"gene_hgnc_id": 24858,
"hgvs_c": "c.112C>T",
"hgvs_p": "p.Gln38*",
"transcript": "ENST00000452930.5",
"protein_id": "ENSP00000415996.1",
"transcript_support_level": 4,
"aa_start": 38,
"aa_end": null,
"aa_length": 137,
"cds_start": 112,
"cds_end": null,
"cds_length": 414,
"cdna_start": 434,
"cdna_end": null,
"cdna_length": 736,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFF",
"gene_hgnc_id": 24858,
"hgvs_c": "c.190C>T",
"hgvs_p": "p.Gln64*",
"transcript": "ENST00000418961.5",
"protein_id": "ENSP00000407547.2",
"transcript_support_level": 5,
"aa_start": 64,
"aa_end": null,
"aa_length": 85,
"cds_start": 190,
"cds_end": null,
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"cdna_start": 652,
"cdna_end": null,
"cdna_length": 720,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFF",
"gene_hgnc_id": 24858,
"hgvs_c": "c.190C>T",
"hgvs_p": "p.Gln64*",
"transcript": "ENST00000443428.6",
"protein_id": "ENSP00000391829.2",
"transcript_support_level": 2,
"aa_start": 64,
"aa_end": null,
"aa_length": 70,
"cds_start": 190,
"cds_end": null,
"cds_length": 214,
"cdna_start": 542,
"cdna_end": null,
"cdna_length": 566,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFF",
"gene_hgnc_id": 24858,
"hgvs_c": "c.112C>T",
"hgvs_p": "p.Gln38*",
"transcript": "ENST00000525195.5",
"protein_id": "ENSP00000436920.1",
"transcript_support_level": 4,
"aa_start": 38,
"aa_end": null,
"aa_length": 51,
"cds_start": 112,
"cds_end": null,
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"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFF",
"gene_hgnc_id": 24858,
"hgvs_c": "c.*14C>T",
"hgvs_p": null,
"transcript": "ENST00000423098.5",
"protein_id": "ENSP00000390165.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 31,
"cds_start": -4,
"cds_end": null,
"cds_length": 98,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 581,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "MFF",
"gene_hgnc_id": 24858,
"dbsnp": "rs397514615",
"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": 0.28999999165534973,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.29,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 1.316,
"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": 11,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5",
"acmg_by_gene": [
{
"score": 11,
"benign_score": 0,
"pathogenic_score": 11,
"criteria": [
"PVS1",
"PM2",
"PP5"
],
"verdict": "Pathogenic",
"transcript": "ENST00000304593.14",
"gene_symbol": "MFF",
"hgnc_id": 24858,
"effects": [
"stop_gained"
],
"inheritance_mode": "AR",
"hgvs_c": "c.112C>T",
"hgvs_p": "p.Gln38*"
}
],
"clinvar_disease": "Encephalopathy due to defective mitochondrial and peroxisomal fission 2,Global developmental delay,Mitochondrial encephalomyopathy",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Encephalopathy due to defective mitochondrial and peroxisomal fission 2|Global developmental delay;Mitochondrial encephalomyopathy",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}