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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: 6-16129372-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=16129372&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 16129372,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_013262.4",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYLIP",
"gene_hgnc_id": 21155,
"hgvs_c": "c.50T>C",
"hgvs_p": "p.Val17Ala",
"transcript": "NM_013262.4",
"protein_id": "NP_037394.2",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 445,
"cds_start": 50,
"cds_end": null,
"cds_length": 1338,
"cdna_start": 287,
"cdna_end": null,
"cdna_length": 3072,
"mane_select": "ENST00000356840.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_013262.4"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYLIP",
"gene_hgnc_id": 21155,
"hgvs_c": "c.50T>C",
"hgvs_p": "p.Val17Ala",
"transcript": "ENST00000356840.8",
"protein_id": "ENSP00000349298.3",
"transcript_support_level": 1,
"aa_start": 17,
"aa_end": null,
"aa_length": 445,
"cds_start": 50,
"cds_end": null,
"cds_length": 1338,
"cdna_start": 287,
"cdna_end": null,
"cdna_length": 3072,
"mane_select": "NM_013262.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000356840.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYLIP",
"gene_hgnc_id": 21155,
"hgvs_c": "n.50T>C",
"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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2796,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000349606.5"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYLIP",
"gene_hgnc_id": 21155,
"hgvs_c": "c.50T>C",
"hgvs_p": "p.Val17Ala",
"transcript": "ENST00000718320.1",
"protein_id": "ENSP00000520754.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 432,
"cds_start": 50,
"cds_end": null,
"cds_length": 1299,
"cdna_start": 287,
"cdna_end": null,
"cdna_length": 1810,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000718320.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYLIP",
"gene_hgnc_id": 21155,
"hgvs_c": "c.50T>C",
"hgvs_p": "p.Val17Ala",
"transcript": "NM_001436627.1",
"protein_id": "NP_001423556.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 390,
"cds_start": 50,
"cds_end": null,
"cds_length": 1173,
"cdna_start": 287,
"cdna_end": null,
"cdna_length": 2907,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001436627.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYLIP",
"gene_hgnc_id": 21155,
"hgvs_c": "c.50T>C",
"hgvs_p": "p.Val17Ala",
"transcript": "ENST00000718321.1",
"protein_id": "ENSP00000520755.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 390,
"cds_start": 50,
"cds_end": null,
"cds_length": 1173,
"cdna_start": 287,
"cdna_end": null,
"cdna_length": 6026,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000718321.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYLIP",
"gene_hgnc_id": 21155,
"hgvs_c": "c.50T>C",
"hgvs_p": "p.Val17Ala",
"transcript": "XM_017010789.2",
"protein_id": "XP_016866278.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 432,
"cds_start": 50,
"cds_end": null,
"cds_length": 1299,
"cdna_start": 287,
"cdna_end": null,
"cdna_length": 6988,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017010789.2"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYLIP",
"gene_hgnc_id": 21155,
"hgvs_c": "c.50T>C",
"hgvs_p": "p.Val17Ala",
"transcript": "XM_047418683.1",
"protein_id": "XP_047274639.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 377,
"cds_start": 50,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 287,
"cdna_end": null,
"cdna_length": 6823,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418683.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYLIP",
"gene_hgnc_id": 21155,
"hgvs_c": "c.-303T>C",
"hgvs_p": null,
"transcript": "XM_005249033.4",
"protein_id": "XP_005249090.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 264,
"cds_start": null,
"cds_end": null,
"cds_length": 795,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2881,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005249033.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYLIP",
"gene_hgnc_id": 21155,
"hgvs_c": "n.287T>C",
"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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3940,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007059242.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYLIP",
"gene_hgnc_id": 21155,
"hgvs_c": "n.287T>C",
"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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3851,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007059243.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYLIP",
"gene_hgnc_id": 21155,
"hgvs_c": "n.287T>C",
"hgvs_p": null,
"transcript": "XR_007059244.1",
"protein_id": null,
"transcript_support_level": null,
"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": 3794,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007059244.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYLIP",
"gene_hgnc_id": 21155,
"hgvs_c": "n.287T>C",
"hgvs_p": null,
"transcript": "XR_007059245.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
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"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3848,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007059245.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
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"gene_symbol": "MYLIP",
"gene_hgnc_id": 21155,
"hgvs_c": "n.287T>C",
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"protein_id": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "pseudogene",
"feature": "XR_007059246.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYLIP",
"gene_hgnc_id": 21155,
"hgvs_c": "n.287T>C",
"hgvs_p": null,
"transcript": "XR_007059247.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
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"aa_length": null,
"cds_start": null,
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"cds_length": null,
"cdna_start": null,
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"cdna_length": 2395,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007059247.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYLIP",
"gene_hgnc_id": 21155,
"hgvs_c": "n.287T>C",
"hgvs_p": null,
"transcript": "XR_007059248.1",
"protein_id": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007059248.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYLIP",
"gene_hgnc_id": 21155,
"hgvs_c": "n.287T>C",
"hgvs_p": null,
"transcript": "XR_007059249.1",
"protein_id": null,
"transcript_support_level": null,
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"cds_start": null,
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"cdna_start": null,
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"cdna_length": 5476,
"mane_select": null,
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"biotype": "pseudogene",
"feature": "XR_007059249.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYLIP",
"gene_hgnc_id": 21155,
"hgvs_c": "n.287T>C",
"hgvs_p": null,
"transcript": "XR_007059250.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "pseudogene",
"feature": "XR_007059250.1"
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYLIP",
"gene_hgnc_id": 21155,
"hgvs_c": "n.287T>C",
"hgvs_p": null,
"transcript": "XR_007059251.1",
"protein_id": null,
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"feature": "XR_007059251.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYLIP",
"gene_hgnc_id": 21155,
"hgvs_c": "n.287T>C",
"hgvs_p": null,
"transcript": "XR_007059252.1",
"protein_id": null,
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"mane_select": null,
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"biotype": "pseudogene",
"feature": "XR_007059252.1"
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
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"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYLIP",
"gene_hgnc_id": 21155,
"hgvs_c": "n.287T>C",
"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": null,
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"cds_length": null,
"cdna_start": null,
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"cdna_length": 5906,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007059253.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYLIP",
"gene_hgnc_id": 21155,
"hgvs_c": "n.287T>C",
"hgvs_p": null,
"transcript": "XR_007059254.1",
"protein_id": null,
"transcript_support_level": null,
"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": 7615,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007059254.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYLIP",
"gene_hgnc_id": 21155,
"hgvs_c": "n.287T>C",
"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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5250,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007059255.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYLIP",
"gene_hgnc_id": 21155,
"hgvs_c": "n.287T>C",
"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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3772,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007059256.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYLIP",
"gene_hgnc_id": 21155,
"hgvs_c": "n.287T>C",
"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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2264,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007059257.1"
}
],
"gene_symbol": "MYLIP",
"gene_hgnc_id": 21155,
"dbsnp": "rs201021082",
"frequency_reference_population": 0.00002199606,
"hom_count_reference_population": 0,
"allele_count_reference_population": 35,
"gnomad_exomes_af": 0.0000208386,
"gnomad_genomes_af": 0.0000329911,
"gnomad_exomes_ac": 30,
"gnomad_genomes_ac": 5,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.29206180572509766,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.507,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.4714,
"alphamissense_prediction": "Uncertain_significance",
"bayesdelnoaf_score": -0.13,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.474,
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_013262.4",
"gene_symbol": "MYLIP",
"hgnc_id": 21155,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.50T>C",
"hgvs_p": "p.Val17Ala"
}
],
"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
}