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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: X-15324820-TAAG-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=15324820&ref=TAAG&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 15324820,
"ref": "TAAG",
"alt": "T",
"effect": "conservative_inframe_deletion",
"transcript": "ENST00000333590.6",
"consequences": [
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGA",
"gene_hgnc_id": 8957,
"hgvs_c": "c.1030_1032delCTT",
"hgvs_p": "p.Leu344del",
"transcript": "NM_002641.4",
"protein_id": "NP_002632.1",
"transcript_support_level": null,
"aa_start": 344,
"aa_end": null,
"aa_length": 484,
"cds_start": 1030,
"cds_end": null,
"cds_length": 1455,
"cdna_start": 1117,
"cdna_end": null,
"cdna_length": 3590,
"mane_select": "ENST00000333590.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGA",
"gene_hgnc_id": 8957,
"hgvs_c": "c.1030_1032delCTT",
"hgvs_p": "p.Leu344del",
"transcript": "ENST00000333590.6",
"protein_id": "ENSP00000369820.3",
"transcript_support_level": 1,
"aa_start": 344,
"aa_end": null,
"aa_length": 484,
"cds_start": 1030,
"cds_end": null,
"cds_length": 1455,
"cdna_start": 1117,
"cdna_end": null,
"cdna_length": 3590,
"mane_select": "NM_002641.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PIGA",
"gene_hgnc_id": 8957,
"hgvs_c": "c.81+197_81+199delCTT",
"hgvs_p": null,
"transcript": "ENST00000475746.1",
"protein_id": "ENSP00000488970.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 50,
"cds_start": -4,
"cds_end": null,
"cds_length": 153,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 153,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGA",
"gene_hgnc_id": 8957,
"hgvs_c": "c.1123_1125delCTT",
"hgvs_p": "p.Leu375del",
"transcript": "NM_001440789.1",
"protein_id": "NP_001427718.1",
"transcript_support_level": null,
"aa_start": 375,
"aa_end": null,
"aa_length": 515,
"cds_start": 1123,
"cds_end": null,
"cds_length": 1548,
"cdna_start": 1210,
"cdna_end": null,
"cdna_length": 3683,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGA",
"gene_hgnc_id": 8957,
"hgvs_c": "c.1030_1032delCTT",
"hgvs_p": "p.Leu344del",
"transcript": "ENST00000542278.6",
"protein_id": "ENSP00000442653.2",
"transcript_support_level": 5,
"aa_start": 344,
"aa_end": null,
"aa_length": 484,
"cds_start": 1030,
"cds_end": null,
"cds_length": 1455,
"cdna_start": 1152,
"cdna_end": null,
"cdna_length": 3626,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGA",
"gene_hgnc_id": 8957,
"hgvs_c": "c.523_525delCTT",
"hgvs_p": "p.Leu175del",
"transcript": "ENST00000482148.6",
"protein_id": "ENSP00000489528.1",
"transcript_support_level": 5,
"aa_start": 175,
"aa_end": null,
"aa_length": 315,
"cds_start": 523,
"cds_end": null,
"cds_length": 948,
"cdna_start": 590,
"cdna_end": null,
"cdna_length": 1092,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGA",
"gene_hgnc_id": 8957,
"hgvs_c": "c.421_423delCTT",
"hgvs_p": "p.Leu141del",
"transcript": "NM_001440790.1",
"protein_id": "NP_001427719.1",
"transcript_support_level": null,
"aa_start": 141,
"aa_end": null,
"aa_length": 281,
"cds_start": 421,
"cds_end": null,
"cds_length": 846,
"cdna_start": 433,
"cdna_end": null,
"cdna_length": 2906,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGA",
"gene_hgnc_id": 8957,
"hgvs_c": "c.328_330delCTT",
"hgvs_p": "p.Leu110del",
"transcript": "NM_020473.3",
"protein_id": "NP_065206.3",
"transcript_support_level": null,
"aa_start": 110,
"aa_end": null,
"aa_length": 250,
"cds_start": 328,
"cds_end": null,
"cds_length": 753,
"cdna_start": 371,
"cdna_end": null,
"cdna_length": 2849,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGA",
"gene_hgnc_id": 8957,
"hgvs_c": "c.328_330delCTT",
"hgvs_p": "p.Leu110del",
"transcript": "ENST00000634582.1",
"protein_id": "ENSP00000489540.1",
"transcript_support_level": 2,
"aa_start": 110,
"aa_end": null,
"aa_length": 250,
"cds_start": 328,
"cds_end": null,
"cds_length": 753,
"cdna_start": 361,
"cdna_end": null,
"cdna_length": 965,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGA",
"gene_hgnc_id": 8957,
"hgvs_c": "c.85_87delCTT",
"hgvs_p": "p.Leu29del",
"transcript": "ENST00000637296.1",
"protein_id": "ENSP00000490545.1",
"transcript_support_level": 5,
"aa_start": 29,
"aa_end": null,
"aa_length": 169,
"cds_start": 85,
"cds_end": null,
"cds_length": 510,
"cdna_start": 543,
"cdna_end": null,
"cdna_length": 2113,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGA",
"gene_hgnc_id": 8957,
"hgvs_c": "c.85_87delCTT",
"hgvs_p": "p.Leu29del",
"transcript": "ENST00000634640.1",
"protein_id": "ENSP00000489083.1",
"transcript_support_level": 5,
"aa_start": 29,
"aa_end": null,
"aa_length": 149,
"cds_start": 85,
"cds_end": null,
"cds_length": 451,
"cdna_start": 490,
"cdna_end": null,
"cdna_length": 854,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGA",
"gene_hgnc_id": 8957,
"hgvs_c": "c.337_339delCTT",
"hgvs_p": "p.Leu113del",
"transcript": "XM_011545539.3",
"protein_id": "XP_011543841.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 253,
"cds_start": 337,
"cds_end": null,
"cds_length": 762,
"cdna_start": 2744,
"cdna_end": null,
"cdna_length": 5222,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGA",
"gene_hgnc_id": 8957,
"hgvs_c": "n.302_304delCTT",
"hgvs_p": null,
"transcript": "ENST00000463173.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 520,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGA",
"gene_hgnc_id": 8957,
"hgvs_c": "n.*343_*345delCTT",
"hgvs_p": null,
"transcript": "ENST00000634286.1",
"protein_id": "ENSP00000489491.1",
"transcript_support_level": 5,
"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": 680,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGA",
"gene_hgnc_id": 8957,
"hgvs_c": "n.1263_1265delCTT",
"hgvs_p": null,
"transcript": "ENST00000635045.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 3738,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGA",
"gene_hgnc_id": 8957,
"hgvs_c": "n.652_654delCTT",
"hgvs_p": null,
"transcript": "ENST00000635480.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 743,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGA",
"gene_hgnc_id": 8957,
"hgvs_c": "n.*299_*301delCTT",
"hgvs_p": null,
"transcript": "ENST00000635598.1",
"protein_id": "ENSP00000489207.1",
"transcript_support_level": 5,
"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": 3246,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGA",
"gene_hgnc_id": 8957,
"hgvs_c": "n.371_373delCTT",
"hgvs_p": null,
"transcript": "ENST00000635631.1",
"protein_id": null,
"transcript_support_level": 5,
"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": 2850,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGA",
"gene_hgnc_id": 8957,
"hgvs_c": "n.*511_*513delCTT",
"hgvs_p": null,
"transcript": "ENST00000637626.1",
"protein_id": "ENSP00000489928.1",
"transcript_support_level": 5,
"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": 3877,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGA",
"gene_hgnc_id": 8957,
"hgvs_c": "n.*291_*293delCTT",
"hgvs_p": null,
"transcript": "ENST00000638131.1",
"protein_id": "ENSP00000490483.1",
"transcript_support_level": 5,
"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": 2963,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGA",
"gene_hgnc_id": 8957,
"hgvs_c": "n.772_774delCTT",
"hgvs_p": null,
"transcript": "NR_033835.1",
"protein_id": null,
"transcript_support_level": null,
"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": 3252,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGA",
"gene_hgnc_id": 8957,
"hgvs_c": "n.488_490delCTT",
"hgvs_p": null,
"transcript": "NR_033836.1",
"protein_id": null,
"transcript_support_level": null,
"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": 2968,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGA",
"gene_hgnc_id": 8957,
"hgvs_c": "n.834_836delCTT",
"hgvs_p": null,
"transcript": "NR_199789.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
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"exon_count": 7,
"intron_rank": null,
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"transcript": "NR_199790.1",
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},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
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"consequences": [
"3_prime_UTR_variant"
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"exon_rank": 5,
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"exon_count": 5,
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"gene_symbol": "PIGA",
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"transcript": "ENST00000634286.1",
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"feature": null
},
{
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"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
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"exon_rank": 5,
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"exon_count": 6,
"intron_rank": null,
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"gene_symbol": "PIGA",
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"hgvs_c": "n.*299_*301delCTT",
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"transcript": "ENST00000635598.1",
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"feature": null
},
{
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"protein_coding": false,
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"consequences": [
"3_prime_UTR_variant"
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"exon_rank": 6,
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"exon_count": 7,
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"gene_symbol": "PIGA",
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"hgvs_c": "n.*511_*513delCTT",
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"transcript": "ENST00000637626.1",
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},
{
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"protein_coding": false,
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"3_prime_UTR_variant"
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"exon_rank": 5,
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"intron_rank_end": null,
"gene_symbol": "PIGA",
"gene_hgnc_id": 8957,
"hgvs_c": "n.*291_*293delCTT",
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"transcript": "ENST00000638131.1",
"protein_id": "ENSP00000490483.1",
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"aa_end": null,
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"cds_end": null,
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"feature": null
}
],
"gene_symbol": "PIGA",
"gene_hgnc_id": 8957,
"dbsnp": "rs587777399",
"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": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"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": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 8.628,
"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": 5,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PM4_Supporting,PP5_Moderate",
"acmg_by_gene": [
{
"score": 5,
"benign_score": 0,
"pathogenic_score": 5,
"criteria": [
"PM2",
"PM4_Supporting",
"PP5_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000333590.6",
"gene_symbol": "PIGA",
"hgnc_id": 8957,
"effects": [
"conservative_inframe_deletion"
],
"inheritance_mode": "Unknown,XL,AD",
"hgvs_c": "c.1030_1032delCTT",
"hgvs_p": "p.Leu344del"
}
],
"clinvar_disease": "Multiple congenital anomalies-hypotonia-seizures syndrome 2,Neurodevelopmental disorder with epilepsy and hemochromatosis,not provided",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1",
"phenotype_combined": "not provided|Neurodevelopmental disorder with epilepsy and hemochromatosis|Multiple congenital anomalies-hypotonia-seizures syndrome 2",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}