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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: 6-112187592-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=112187592&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 112187592,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001105206.3",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMA4",
"gene_hgnc_id": 6484,
"hgvs_c": "c.824A>G",
"hgvs_p": "p.Lys275Arg",
"transcript": "NM_001105206.3",
"protein_id": "NP_001098676.2",
"transcript_support_level": null,
"aa_start": 275,
"aa_end": null,
"aa_length": 1823,
"cds_start": 824,
"cds_end": null,
"cds_length": 5472,
"cdna_start": 1074,
"cdna_end": null,
"cdna_length": 7228,
"mane_select": "ENST00000230538.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001105206.3"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMA4",
"gene_hgnc_id": 6484,
"hgvs_c": "c.824A>G",
"hgvs_p": "p.Lys275Arg",
"transcript": "ENST00000230538.12",
"protein_id": "ENSP00000230538.7",
"transcript_support_level": 1,
"aa_start": 275,
"aa_end": null,
"aa_length": 1823,
"cds_start": 824,
"cds_end": null,
"cds_length": 5472,
"cdna_start": 1074,
"cdna_end": null,
"cdna_length": 7228,
"mane_select": "NM_001105206.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000230538.12"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMA4",
"gene_hgnc_id": 6484,
"hgvs_c": "c.803A>G",
"hgvs_p": "p.Lys268Arg",
"transcript": "ENST00000389463.9",
"protein_id": "ENSP00000374114.4",
"transcript_support_level": 1,
"aa_start": 268,
"aa_end": null,
"aa_length": 1816,
"cds_start": 803,
"cds_end": null,
"cds_length": 5451,
"cdna_start": 1053,
"cdna_end": null,
"cdna_length": 6381,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000389463.9"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMA4",
"gene_hgnc_id": 6484,
"hgvs_c": "c.803A>G",
"hgvs_p": "p.Lys268Arg",
"transcript": "ENST00000522006.5",
"protein_id": "ENSP00000429488.1",
"transcript_support_level": 1,
"aa_start": 268,
"aa_end": null,
"aa_length": 1816,
"cds_start": 803,
"cds_end": null,
"cds_length": 5451,
"cdna_start": 1213,
"cdna_end": null,
"cdna_length": 6438,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000522006.5"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMA4",
"gene_hgnc_id": 6484,
"hgvs_c": "c.836A>G",
"hgvs_p": "p.Lys279Arg",
"transcript": "ENST00000905056.1",
"protein_id": "ENSP00000575115.1",
"transcript_support_level": null,
"aa_start": 279,
"aa_end": null,
"aa_length": 1827,
"cds_start": 836,
"cds_end": null,
"cds_length": 5484,
"cdna_start": 1112,
"cdna_end": null,
"cdna_length": 6437,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905056.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMA4",
"gene_hgnc_id": 6484,
"hgvs_c": "c.824A>G",
"hgvs_p": "p.Lys275Arg",
"transcript": "ENST00000905055.1",
"protein_id": "ENSP00000575114.1",
"transcript_support_level": null,
"aa_start": 275,
"aa_end": null,
"aa_length": 1823,
"cds_start": 824,
"cds_end": null,
"cds_length": 5472,
"cdna_start": 1248,
"cdna_end": null,
"cdna_length": 7099,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905055.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMA4",
"gene_hgnc_id": 6484,
"hgvs_c": "c.803A>G",
"hgvs_p": "p.Lys268Arg",
"transcript": "NM_001105207.3",
"protein_id": "NP_001098677.2",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 1816,
"cds_start": 803,
"cds_end": null,
"cds_length": 5451,
"cdna_start": 1070,
"cdna_end": null,
"cdna_length": 7224,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001105207.3"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMA4",
"gene_hgnc_id": 6484,
"hgvs_c": "c.803A>G",
"hgvs_p": "p.Lys268Arg",
"transcript": "NM_002290.5",
"protein_id": "NP_002281.3",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 1816,
"cds_start": 803,
"cds_end": null,
"cds_length": 5451,
"cdna_start": 1053,
"cdna_end": null,
"cdna_length": 7207,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002290.5"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMA4",
"gene_hgnc_id": 6484,
"hgvs_c": "c.803A>G",
"hgvs_p": "p.Lys268Arg",
"transcript": "ENST00000424408.6",
"protein_id": "ENSP00000416470.2",
"transcript_support_level": 5,
"aa_start": 268,
"aa_end": null,
"aa_length": 1816,
"cds_start": 803,
"cds_end": null,
"cds_length": 5451,
"cdna_start": 1191,
"cdna_end": null,
"cdna_length": 5983,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000424408.6"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMA4",
"gene_hgnc_id": 6484,
"hgvs_c": "c.785A>G",
"hgvs_p": "p.Lys262Arg",
"transcript": "ENST00000905054.1",
"protein_id": "ENSP00000575113.1",
"transcript_support_level": null,
"aa_start": 262,
"aa_end": null,
"aa_length": 1810,
"cds_start": 785,
"cds_end": null,
"cds_length": 5433,
"cdna_start": 1109,
"cdna_end": null,
"cdna_length": 9117,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905054.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMA4",
"gene_hgnc_id": 6484,
"hgvs_c": "c.785A>G",
"hgvs_p": "p.Lys262Arg",
"transcript": "ENST00000905057.1",
"protein_id": "ENSP00000575116.1",
"transcript_support_level": null,
"aa_start": 262,
"aa_end": null,
"aa_length": 1810,
"cds_start": 785,
"cds_end": null,
"cds_length": 5433,
"cdna_start": 1052,
"cdna_end": null,
"cdna_length": 6020,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905057.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMA4",
"gene_hgnc_id": 6484,
"hgvs_c": "c.785A>G",
"hgvs_p": "p.Lys262Arg",
"transcript": "ENST00000905058.1",
"protein_id": "ENSP00000575117.1",
"transcript_support_level": null,
"aa_start": 262,
"aa_end": null,
"aa_length": 1810,
"cds_start": 785,
"cds_end": null,
"cds_length": 5433,
"cdna_start": 1202,
"cdna_end": null,
"cdna_length": 6158,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905058.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMA4",
"gene_hgnc_id": 6484,
"hgvs_c": "c.803A>G",
"hgvs_p": "p.Lys268Arg",
"transcript": "ENST00000951659.1",
"protein_id": "ENSP00000621718.1",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 1790,
"cds_start": 803,
"cds_end": null,
"cds_length": 5373,
"cdna_start": 1068,
"cdna_end": null,
"cdna_length": 5946,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951659.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMA4",
"gene_hgnc_id": 6484,
"hgvs_c": "c.803A>G",
"hgvs_p": "p.Lys268Arg",
"transcript": "ENST00000905059.1",
"protein_id": "ENSP00000575118.1",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 1756,
"cds_start": 803,
"cds_end": null,
"cds_length": 5271,
"cdna_start": 1051,
"cdna_end": null,
"cdna_length": 5827,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905059.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMA4",
"gene_hgnc_id": 6484,
"hgvs_c": "c.803A>G",
"hgvs_p": "p.Lys268Arg",
"transcript": "ENST00000951658.1",
"protein_id": "ENSP00000621717.1",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 571,
"cds_start": 803,
"cds_end": null,
"cds_length": 1716,
"cdna_start": 1259,
"cdna_end": null,
"cdna_length": 2479,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951658.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMA4",
"gene_hgnc_id": 6484,
"hgvs_c": "c.824A>G",
"hgvs_p": "p.Lys275Arg",
"transcript": "ENST00000521398.5",
"protein_id": "ENSP00000430336.1",
"transcript_support_level": 5,
"aa_start": 275,
"aa_end": null,
"aa_length": 330,
"cds_start": 824,
"cds_end": null,
"cds_length": 995,
"cdna_start": 1159,
"cdna_end": null,
"cdna_length": 1330,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000521398.5"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMA4",
"gene_hgnc_id": 6484,
"hgvs_c": "c.260A>G",
"hgvs_p": "p.Lys87Arg",
"transcript": "ENST00000521732.5",
"protein_id": "ENSP00000427865.1",
"transcript_support_level": 2,
"aa_start": 87,
"aa_end": null,
"aa_length": 186,
"cds_start": 260,
"cds_end": null,
"cds_length": 561,
"cdna_start": 261,
"cdna_end": null,
"cdna_length": 729,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000521732.5"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMA4",
"gene_hgnc_id": 6484,
"hgvs_c": "c.233A>G",
"hgvs_p": "p.Lys78Arg",
"transcript": "ENST00000368640.8",
"protein_id": "ENSP00000357629.4",
"transcript_support_level": 3,
"aa_start": 78,
"aa_end": null,
"aa_length": 177,
"cds_start": 233,
"cds_end": null,
"cds_length": 534,
"cdna_start": 235,
"cdna_end": null,
"cdna_length": 672,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000368640.8"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMA4",
"gene_hgnc_id": 6484,
"hgvs_c": "c.824A>G",
"hgvs_p": "p.Lys275Arg",
"transcript": "XM_005266983.5",
"protein_id": "XP_005267040.2",
"transcript_support_level": null,
"aa_start": 275,
"aa_end": null,
"aa_length": 1823,
"cds_start": 824,
"cds_end": null,
"cds_length": 5472,
"cdna_start": 1091,
"cdna_end": null,
"cdna_length": 7245,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005266983.5"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMA4",
"gene_hgnc_id": 6484,
"hgvs_c": "c.824A>G",
"hgvs_p": "p.Lys275Arg",
"transcript": "XM_005266984.5",
"protein_id": "XP_005267041.2",
"transcript_support_level": null,
"aa_start": 275,
"aa_end": null,
"aa_length": 1823,
"cds_start": 824,
"cds_end": null,
"cds_length": 5472,
"cdna_start": 1094,
"cdna_end": null,
"cdna_length": 7248,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005266984.5"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMA4",
"gene_hgnc_id": 6484,
"hgvs_c": "c.824A>G",
"hgvs_p": "p.Lys275Arg",
"transcript": "XM_047418769.1",
"protein_id": "XP_047274725.1",
"transcript_support_level": null,
"aa_start": 275,
"aa_end": null,
"aa_length": 1823,
"cds_start": 824,
"cds_end": null,
"cds_length": 5472,
"cdna_start": 1194,
"cdna_end": null,
"cdna_length": 7348,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418769.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMA4",
"gene_hgnc_id": 6484,
"hgvs_c": "c.803A>G",
"hgvs_p": "p.Lys268Arg",
"transcript": "XM_017010854.3",
"protein_id": "XP_016866343.1",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 1816,
"cds_start": 803,
"cds_end": null,
"cds_length": 5451,
"cdna_start": 1073,
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"cdna_length": 7227,
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"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017010854.3"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
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"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMA4",
"gene_hgnc_id": 6484,
"hgvs_c": "c.803A>G",
"hgvs_p": "p.Lys268Arg",
"transcript": "XM_047418770.1",
"protein_id": "XP_047274726.1",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 1816,
"cds_start": 803,
"cds_end": null,
"cds_length": 5451,
"cdna_start": 1192,
"cdna_end": null,
"cdna_length": 7346,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418770.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMA4",
"gene_hgnc_id": 6484,
"hgvs_c": "c.824A>G",
"hgvs_p": "p.Lys275Arg",
"transcript": "XM_047418771.1",
"protein_id": "XP_047274727.1",
"transcript_support_level": null,
"aa_start": 275,
"aa_end": null,
"aa_length": 1279,
"cds_start": 824,
"cds_end": null,
"cds_length": 3840,
"cdna_start": 1091,
"cdna_end": null,
"cdna_length": 4155,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418771.1"
}
],
"gene_symbol": "LAMA4",
"gene_hgnc_id": 6484,
"dbsnp": "rs183711657",
"frequency_reference_population": 0.00005824704,
"hom_count_reference_population": 1,
"allele_count_reference_population": 94,
"gnomad_exomes_af": 0.0000622582,
"gnomad_genomes_af": 0.0000197161,
"gnomad_exomes_ac": 91,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.021709918975830078,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.09,
"revel_prediction": "Benign",
"alphamissense_score": 0.0992,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.27,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.465,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.01,
"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": -16,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS2",
"acmg_by_gene": [
{
"score": -16,
"benign_score": 16,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001105206.3",
"gene_symbol": "LAMA4",
"hgnc_id": 6484,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.824A>G",
"hgvs_p": "p.Lys275Arg"
}
],
"clinvar_disease": "Cardiovascular phenotype,Dilated cardiomyopathy 1JJ,Long QT syndrome,Primary dilated cardiomyopathy,not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:4",
"phenotype_combined": "Dilated cardiomyopathy 1JJ|Primary dilated cardiomyopathy;Long QT syndrome|not provided|Cardiovascular phenotype",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}