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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: 6-16145040-AC-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=16145040&ref=AC&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 16145040,
"ref": "AC",
"alt": "A",
"effect": "frameshift_variant",
"transcript": "ENST00000356840.8",
"consequences": [
{
"aa_ref": "H",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYLIP",
"gene_hgnc_id": 21155,
"hgvs_c": "c.973delC",
"hgvs_p": "p.His325fs",
"transcript": "NM_013262.4",
"protein_id": "NP_037394.2",
"transcript_support_level": null,
"aa_start": 325,
"aa_end": null,
"aa_length": 445,
"cds_start": 973,
"cds_end": null,
"cds_length": 1338,
"cdna_start": 1210,
"cdna_end": null,
"cdna_length": 3072,
"mane_select": "ENST00000356840.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYLIP",
"gene_hgnc_id": 21155,
"hgvs_c": "c.973delC",
"hgvs_p": "p.His325fs",
"transcript": "ENST00000356840.8",
"protein_id": "ENSP00000349298.3",
"transcript_support_level": 1,
"aa_start": 325,
"aa_end": null,
"aa_length": 445,
"cds_start": 973,
"cds_end": null,
"cds_length": 1338,
"cdna_start": 1210,
"cdna_end": null,
"cdna_length": 3072,
"mane_select": "NM_013262.4",
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYLIP",
"gene_hgnc_id": 21155,
"hgvs_c": "n.*557delC",
"hgvs_p": null,
"transcript": "ENST00000349606.5",
"protein_id": "ENSP00000008686.6",
"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": 2796,
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYLIP",
"gene_hgnc_id": 21155,
"hgvs_c": "n.*557delC",
"hgvs_p": null,
"transcript": "ENST00000349606.5",
"protein_id": "ENSP00000008686.6",
"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": 2796,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYLIP",
"gene_hgnc_id": 21155,
"hgvs_c": "c.973delC",
"hgvs_p": "p.His325fs",
"transcript": "ENST00000718320.1",
"protein_id": "ENSP00000520754.1",
"transcript_support_level": null,
"aa_start": 325,
"aa_end": null,
"aa_length": 432,
"cds_start": 973,
"cds_end": null,
"cds_length": 1299,
"cdna_start": 1210,
"cdna_end": null,
"cdna_length": 1810,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYLIP",
"gene_hgnc_id": 21155,
"hgvs_c": "c.808delC",
"hgvs_p": "p.His270fs",
"transcript": "NM_001436627.1",
"protein_id": "NP_001423556.1",
"transcript_support_level": null,
"aa_start": 270,
"aa_end": null,
"aa_length": 390,
"cds_start": 808,
"cds_end": null,
"cds_length": 1173,
"cdna_start": 1045,
"cdna_end": null,
"cdna_length": 2907,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYLIP",
"gene_hgnc_id": 21155,
"hgvs_c": "c.808delC",
"hgvs_p": "p.His270fs",
"transcript": "ENST00000718321.1",
"protein_id": "ENSP00000520755.1",
"transcript_support_level": null,
"aa_start": 270,
"aa_end": null,
"aa_length": 390,
"cds_start": 808,
"cds_end": null,
"cds_length": 1173,
"cdna_start": 1045,
"cdna_end": null,
"cdna_length": 6026,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYLIP",
"gene_hgnc_id": 21155,
"hgvs_c": "c.973delC",
"hgvs_p": "p.His325fs",
"transcript": "XM_017010789.2",
"protein_id": "XP_016866278.1",
"transcript_support_level": null,
"aa_start": 325,
"aa_end": null,
"aa_length": 432,
"cds_start": 973,
"cds_end": null,
"cds_length": 1299,
"cdna_start": 1210,
"cdna_end": null,
"cdna_length": 6988,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYLIP",
"gene_hgnc_id": 21155,
"hgvs_c": "c.808delC",
"hgvs_p": "p.His270fs",
"transcript": "XM_047418683.1",
"protein_id": "XP_047274639.1",
"transcript_support_level": null,
"aa_start": 270,
"aa_end": null,
"aa_length": 377,
"cds_start": 808,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 1045,
"cdna_end": null,
"cdna_length": 6823,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYLIP",
"gene_hgnc_id": 21155,
"hgvs_c": "c.430delC",
"hgvs_p": "p.His144fs",
"transcript": "XM_005249033.4",
"protein_id": "XP_005249090.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 264,
"cds_start": 430,
"cds_end": null,
"cds_length": 795,
"cdna_start": 1019,
"cdna_end": null,
"cdna_length": 2881,
"mane_select": null,
"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": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYLIP",
"gene_hgnc_id": 21155,
"hgvs_c": "n.1210delC",
"hgvs_p": null,
"transcript": "XR_007059242.1",
"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": 3940,
"mane_select": null,
"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": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYLIP",
"gene_hgnc_id": 21155,
"hgvs_c": "n.1210delC",
"hgvs_p": null,
"transcript": "XR_007059243.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cds_length": null,
"cdna_start": null,
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"cdna_length": 3851,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYLIP",
"gene_hgnc_id": 21155,
"hgvs_c": "n.1210delC",
"hgvs_p": null,
"transcript": "XR_007059244.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 3794,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYLIP",
"gene_hgnc_id": 21155,
"hgvs_c": "n.1210delC",
"hgvs_p": null,
"transcript": "XR_007059245.1",
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},
{
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"strand": true,
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"non_coding_transcript_exon_variant"
],
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"exon_count": 11,
"intron_rank": null,
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"gene_symbol": "MYLIP",
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"hgvs_c": "n.1210delC",
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"transcript": "XR_007059246.1",
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"cds_start": -4,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
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"gene_symbol": "MYLIP",
"gene_hgnc_id": 21155,
"hgvs_c": "n.1210delC",
"hgvs_p": null,
"transcript": "XR_007059247.1",
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": 6,
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"intron_rank": null,
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"gene_symbol": "MYLIP",
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"hgvs_c": "n.1210delC",
"hgvs_p": null,
"transcript": "XR_007059248.1",
"protein_id": null,
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"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYLIP",
"gene_hgnc_id": 21155,
"hgvs_c": "n.1210delC",
"hgvs_p": null,
"transcript": "XR_007059249.1",
"protein_id": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYLIP",
"gene_hgnc_id": 21155,
"hgvs_c": "n.1210delC",
"hgvs_p": null,
"transcript": "XR_007059250.1",
"protein_id": null,
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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": 8,
"intron_rank": null,
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"gene_symbol": "MYLIP",
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"hgvs_c": "n.1210delC",
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},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
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"gene_symbol": "MYLIP",
"gene_hgnc_id": 21155,
"hgvs_c": "n.1210delC",
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},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYLIP",
"gene_hgnc_id": 21155,
"hgvs_c": "n.1210delC",
"hgvs_p": null,
"transcript": "XR_007059253.1",
"protein_id": null,
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"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"cdna_length": 5906,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYLIP",
"gene_hgnc_id": 21155,
"hgvs_c": "n.1210delC",
"hgvs_p": null,
"transcript": "XR_007059254.1",
"protein_id": null,
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"aa_length": null,
"cds_start": -4,
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"mane_select": null,
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},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYLIP",
"gene_hgnc_id": 21155,
"hgvs_c": "n.1210delC",
"hgvs_p": null,
"transcript": "XR_007059255.1",
"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": 5250,
"mane_select": null,
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYLIP",
"gene_hgnc_id": 21155,
"hgvs_c": "n.1045delC",
"hgvs_p": null,
"transcript": "XR_007059256.1",
"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": 3772,
"mane_select": null,
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYLIP",
"gene_hgnc_id": 21155,
"hgvs_c": "n.1045delC",
"hgvs_p": null,
"transcript": "XR_007059257.1",
"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": 2264,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "MYLIP",
"gene_hgnc_id": 21155,
"dbsnp": "rs1759757779",
"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": 2.567,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000356840.8",
"gene_symbol": "MYLIP",
"hgnc_id": 21155,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.973delC",
"hgvs_p": "p.His325fs"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}