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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: 6-112122161-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=112122161&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 112122161,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001105206.3",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMA4",
"gene_hgnc_id": 6484,
"hgvs_c": "c.4328C>T",
"hgvs_p": "p.Ala1443Val",
"transcript": "NM_001105206.3",
"protein_id": "NP_001098676.2",
"transcript_support_level": null,
"aa_start": 1443,
"aa_end": null,
"aa_length": 1823,
"cds_start": 4328,
"cds_end": null,
"cds_length": 5472,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000230538.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001105206.3"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMA4",
"gene_hgnc_id": 6484,
"hgvs_c": "c.4328C>T",
"hgvs_p": "p.Ala1443Val",
"transcript": "ENST00000230538.12",
"protein_id": "ENSP00000230538.7",
"transcript_support_level": 1,
"aa_start": 1443,
"aa_end": null,
"aa_length": 1823,
"cds_start": 4328,
"cds_end": null,
"cds_length": 5472,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001105206.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000230538.12"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMA4",
"gene_hgnc_id": 6484,
"hgvs_c": "c.4307C>T",
"hgvs_p": "p.Ala1436Val",
"transcript": "ENST00000389463.9",
"protein_id": "ENSP00000374114.4",
"transcript_support_level": 1,
"aa_start": 1436,
"aa_end": null,
"aa_length": 1816,
"cds_start": 4307,
"cds_end": null,
"cds_length": 5451,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000389463.9"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMA4",
"gene_hgnc_id": 6484,
"hgvs_c": "c.4307C>T",
"hgvs_p": "p.Ala1436Val",
"transcript": "ENST00000522006.5",
"protein_id": "ENSP00000429488.1",
"transcript_support_level": 1,
"aa_start": 1436,
"aa_end": null,
"aa_length": 1816,
"cds_start": 4307,
"cds_end": null,
"cds_length": 5451,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000522006.5"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMA4",
"gene_hgnc_id": 6484,
"hgvs_c": "c.4340C>T",
"hgvs_p": "p.Ala1447Val",
"transcript": "ENST00000905056.1",
"protein_id": "ENSP00000575115.1",
"transcript_support_level": null,
"aa_start": 1447,
"aa_end": null,
"aa_length": 1827,
"cds_start": 4340,
"cds_end": null,
"cds_length": 5484,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905056.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMA4",
"gene_hgnc_id": 6484,
"hgvs_c": "c.4328C>T",
"hgvs_p": "p.Ala1443Val",
"transcript": "ENST00000905055.1",
"protein_id": "ENSP00000575114.1",
"transcript_support_level": null,
"aa_start": 1443,
"aa_end": null,
"aa_length": 1823,
"cds_start": 4328,
"cds_end": null,
"cds_length": 5472,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905055.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMA4",
"gene_hgnc_id": 6484,
"hgvs_c": "c.4307C>T",
"hgvs_p": "p.Ala1436Val",
"transcript": "NM_001105207.3",
"protein_id": "NP_001098677.2",
"transcript_support_level": null,
"aa_start": 1436,
"aa_end": null,
"aa_length": 1816,
"cds_start": 4307,
"cds_end": null,
"cds_length": 5451,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001105207.3"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMA4",
"gene_hgnc_id": 6484,
"hgvs_c": "c.4307C>T",
"hgvs_p": "p.Ala1436Val",
"transcript": "NM_002290.5",
"protein_id": "NP_002281.3",
"transcript_support_level": null,
"aa_start": 1436,
"aa_end": null,
"aa_length": 1816,
"cds_start": 4307,
"cds_end": null,
"cds_length": 5451,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002290.5"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMA4",
"gene_hgnc_id": 6484,
"hgvs_c": "c.4307C>T",
"hgvs_p": "p.Ala1436Val",
"transcript": "ENST00000424408.6",
"protein_id": "ENSP00000416470.2",
"transcript_support_level": 5,
"aa_start": 1436,
"aa_end": null,
"aa_length": 1816,
"cds_start": 4307,
"cds_end": null,
"cds_length": 5451,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000424408.6"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMA4",
"gene_hgnc_id": 6484,
"hgvs_c": "c.4289C>T",
"hgvs_p": "p.Ala1430Val",
"transcript": "ENST00000905054.1",
"protein_id": "ENSP00000575113.1",
"transcript_support_level": null,
"aa_start": 1430,
"aa_end": null,
"aa_length": 1810,
"cds_start": 4289,
"cds_end": null,
"cds_length": 5433,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905054.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMA4",
"gene_hgnc_id": 6484,
"hgvs_c": "c.4289C>T",
"hgvs_p": "p.Ala1430Val",
"transcript": "ENST00000905057.1",
"protein_id": "ENSP00000575116.1",
"transcript_support_level": null,
"aa_start": 1430,
"aa_end": null,
"aa_length": 1810,
"cds_start": 4289,
"cds_end": null,
"cds_length": 5433,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905057.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMA4",
"gene_hgnc_id": 6484,
"hgvs_c": "c.4289C>T",
"hgvs_p": "p.Ala1430Val",
"transcript": "ENST00000905058.1",
"protein_id": "ENSP00000575117.1",
"transcript_support_level": null,
"aa_start": 1430,
"aa_end": null,
"aa_length": 1810,
"cds_start": 4289,
"cds_end": null,
"cds_length": 5433,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905058.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMA4",
"gene_hgnc_id": 6484,
"hgvs_c": "c.4307C>T",
"hgvs_p": "p.Ala1436Val",
"transcript": "ENST00000951659.1",
"protein_id": "ENSP00000621718.1",
"transcript_support_level": null,
"aa_start": 1436,
"aa_end": null,
"aa_length": 1790,
"cds_start": 4307,
"cds_end": null,
"cds_length": 5373,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951659.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMA4",
"gene_hgnc_id": 6484,
"hgvs_c": "c.4127C>T",
"hgvs_p": "p.Ala1376Val",
"transcript": "ENST00000905059.1",
"protein_id": "ENSP00000575118.1",
"transcript_support_level": null,
"aa_start": 1376,
"aa_end": null,
"aa_length": 1756,
"cds_start": 4127,
"cds_end": null,
"cds_length": 5271,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905059.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMA4",
"gene_hgnc_id": 6484,
"hgvs_c": "c.2051C>T",
"hgvs_p": "p.Ala684Val",
"transcript": "ENST00000651860.1",
"protein_id": "ENSP00000498842.1",
"transcript_support_level": null,
"aa_start": 684,
"aa_end": null,
"aa_length": 1064,
"cds_start": 2051,
"cds_end": null,
"cds_length": 3195,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000651860.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMA4",
"gene_hgnc_id": 6484,
"hgvs_c": "c.4328C>T",
"hgvs_p": "p.Ala1443Val",
"transcript": "XM_005266983.5",
"protein_id": "XP_005267040.2",
"transcript_support_level": null,
"aa_start": 1443,
"aa_end": null,
"aa_length": 1823,
"cds_start": 4328,
"cds_end": null,
"cds_length": 5472,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005266983.5"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMA4",
"gene_hgnc_id": 6484,
"hgvs_c": "c.4328C>T",
"hgvs_p": "p.Ala1443Val",
"transcript": "XM_005266984.5",
"protein_id": "XP_005267041.2",
"transcript_support_level": null,
"aa_start": 1443,
"aa_end": null,
"aa_length": 1823,
"cds_start": 4328,
"cds_end": null,
"cds_length": 5472,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005266984.5"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMA4",
"gene_hgnc_id": 6484,
"hgvs_c": "c.4328C>T",
"hgvs_p": "p.Ala1443Val",
"transcript": "XM_047418769.1",
"protein_id": "XP_047274725.1",
"transcript_support_level": null,
"aa_start": 1443,
"aa_end": null,
"aa_length": 1823,
"cds_start": 4328,
"cds_end": null,
"cds_length": 5472,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418769.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMA4",
"gene_hgnc_id": 6484,
"hgvs_c": "c.4307C>T",
"hgvs_p": "p.Ala1436Val",
"transcript": "XM_017010854.3",
"protein_id": "XP_016866343.1",
"transcript_support_level": null,
"aa_start": 1436,
"aa_end": null,
"aa_length": 1816,
"cds_start": 4307,
"cds_end": null,
"cds_length": 5451,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017010854.3"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMA4",
"gene_hgnc_id": 6484,
"hgvs_c": "c.4307C>T",
"hgvs_p": "p.Ala1436Val",
"transcript": "XM_047418770.1",
"protein_id": "XP_047274726.1",
"transcript_support_level": null,
"aa_start": 1436,
"aa_end": null,
"aa_length": 1816,
"cds_start": 4307,
"cds_end": null,
"cds_length": 5451,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418770.1"
},
{
"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": 13,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "LAMA4",
"gene_hgnc_id": 6484,
"hgvs_c": "c.1634-12642C>T",
"hgvs_p": null,
"transcript": "ENST00000951658.1",
"protein_id": "ENSP00000621717.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 571,
"cds_start": null,
"cds_end": null,
"cds_length": 1716,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951658.1"
},
{
"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": "LAMA4",
"gene_hgnc_id": 6484,
"hgvs_c": "n.479C>T",
"hgvs_p": null,
"transcript": "ENST00000521693.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
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"biotype": "retained_intron",
"feature": "ENST00000521693.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
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"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMA4",
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"hgvs_c": "n.308C>T",
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"transcript": "ENST00000604740.5",
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"transcript_support_level": 2,
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"aa_length": null,
"cds_start": null,
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"cds_length": null,
"cdna_start": null,
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"biotype": "retained_intron",
"feature": "ENST00000604740.5"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 4,
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"gene_symbol": "LAMA4",
"gene_hgnc_id": 6484,
"hgvs_c": "n.493-1689C>T",
"hgvs_p": null,
"transcript": "ENST00000651529.1",
"protein_id": "ENSP00000499099.1",
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"aa_start": null,
"aa_end": null,
"aa_length": null,
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"cds_length": null,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000651529.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 3,
"intron_rank": 2,
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"gene_symbol": "ENSG00000304834",
"gene_hgnc_id": null,
"hgvs_c": "n.204+2817G>A",
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"transcript": "ENST00000806556.1",
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"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000806556.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 2,
"intron_rank": 1,
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"gene_symbol": "LOC107986633",
"gene_hgnc_id": null,
"hgvs_c": "n.439+5734G>A",
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"transcript": "XR_001744299.2",
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"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_001744299.2"
}
],
"gene_symbol": "LAMA4",
"gene_hgnc_id": 6484,
"dbsnp": "rs782696599",
"frequency_reference_population": 0.0000074361146,
"hom_count_reference_population": 0,
"allele_count_reference_population": 12,
"gnomad_exomes_af": 0.00000752604,
"gnomad_genomes_af": 0.00000657229,
"gnomad_exomes_ac": 11,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.12340554594993591,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.099,
"revel_prediction": "Benign",
"alphamissense_score": 0.076,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.68,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.773,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"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": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_001105206.3",
"gene_symbol": "LAMA4",
"hgnc_id": 6484,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.4328C>T",
"hgvs_p": "p.Ala1443Val"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000806556.1",
"gene_symbol": "ENSG00000304834",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.204+2817G>A",
"hgvs_p": null
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "XR_001744299.2",
"gene_symbol": "LOC107986633",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.439+5734G>A",
"hgvs_p": null
}
],
"clinvar_disease": "Dilated cardiomyopathy 1JJ,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:3",
"phenotype_combined": "not provided|Dilated cardiomyopathy 1JJ",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}