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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: 6-112139775-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=112139775&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 112139775,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "NM_001105206.3",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMA4",
"gene_hgnc_id": 6484,
"hgvs_c": "c.3087C>T",
"hgvs_p": "p.Pro1029Pro",
"transcript": "NM_001105206.3",
"protein_id": "NP_001098676.2",
"transcript_support_level": null,
"aa_start": 1029,
"aa_end": null,
"aa_length": 1823,
"cds_start": 3087,
"cds_end": null,
"cds_length": 5472,
"cdna_start": 3337,
"cdna_end": null,
"cdna_length": 7228,
"mane_select": "ENST00000230538.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001105206.3"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMA4",
"gene_hgnc_id": 6484,
"hgvs_c": "c.3087C>T",
"hgvs_p": "p.Pro1029Pro",
"transcript": "ENST00000230538.12",
"protein_id": "ENSP00000230538.7",
"transcript_support_level": 1,
"aa_start": 1029,
"aa_end": null,
"aa_length": 1823,
"cds_start": 3087,
"cds_end": null,
"cds_length": 5472,
"cdna_start": 3337,
"cdna_end": null,
"cdna_length": 7228,
"mane_select": "NM_001105206.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000230538.12"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMA4",
"gene_hgnc_id": 6484,
"hgvs_c": "c.3066C>T",
"hgvs_p": "p.Pro1022Pro",
"transcript": "ENST00000389463.9",
"protein_id": "ENSP00000374114.4",
"transcript_support_level": 1,
"aa_start": 1022,
"aa_end": null,
"aa_length": 1816,
"cds_start": 3066,
"cds_end": null,
"cds_length": 5451,
"cdna_start": 3316,
"cdna_end": null,
"cdna_length": 6381,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000389463.9"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMA4",
"gene_hgnc_id": 6484,
"hgvs_c": "c.3066C>T",
"hgvs_p": "p.Pro1022Pro",
"transcript": "ENST00000522006.5",
"protein_id": "ENSP00000429488.1",
"transcript_support_level": 1,
"aa_start": 1022,
"aa_end": null,
"aa_length": 1816,
"cds_start": 3066,
"cds_end": null,
"cds_length": 5451,
"cdna_start": 3476,
"cdna_end": null,
"cdna_length": 6438,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000522006.5"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMA4",
"gene_hgnc_id": 6484,
"hgvs_c": "c.3099C>T",
"hgvs_p": "p.Pro1033Pro",
"transcript": "ENST00000905056.1",
"protein_id": "ENSP00000575115.1",
"transcript_support_level": null,
"aa_start": 1033,
"aa_end": null,
"aa_length": 1827,
"cds_start": 3099,
"cds_end": null,
"cds_length": 5484,
"cdna_start": 3375,
"cdna_end": null,
"cdna_length": 6437,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905056.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMA4",
"gene_hgnc_id": 6484,
"hgvs_c": "c.3087C>T",
"hgvs_p": "p.Pro1029Pro",
"transcript": "ENST00000905055.1",
"protein_id": "ENSP00000575114.1",
"transcript_support_level": null,
"aa_start": 1029,
"aa_end": null,
"aa_length": 1823,
"cds_start": 3087,
"cds_end": null,
"cds_length": 5472,
"cdna_start": 3511,
"cdna_end": null,
"cdna_length": 7099,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905055.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMA4",
"gene_hgnc_id": 6484,
"hgvs_c": "c.3066C>T",
"hgvs_p": "p.Pro1022Pro",
"transcript": "NM_001105207.3",
"protein_id": "NP_001098677.2",
"transcript_support_level": null,
"aa_start": 1022,
"aa_end": null,
"aa_length": 1816,
"cds_start": 3066,
"cds_end": null,
"cds_length": 5451,
"cdna_start": 3333,
"cdna_end": null,
"cdna_length": 7224,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001105207.3"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMA4",
"gene_hgnc_id": 6484,
"hgvs_c": "c.3066C>T",
"hgvs_p": "p.Pro1022Pro",
"transcript": "NM_002290.5",
"protein_id": "NP_002281.3",
"transcript_support_level": null,
"aa_start": 1022,
"aa_end": null,
"aa_length": 1816,
"cds_start": 3066,
"cds_end": null,
"cds_length": 5451,
"cdna_start": 3316,
"cdna_end": null,
"cdna_length": 7207,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002290.5"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMA4",
"gene_hgnc_id": 6484,
"hgvs_c": "c.3066C>T",
"hgvs_p": "p.Pro1022Pro",
"transcript": "ENST00000424408.6",
"protein_id": "ENSP00000416470.2",
"transcript_support_level": 5,
"aa_start": 1022,
"aa_end": null,
"aa_length": 1816,
"cds_start": 3066,
"cds_end": null,
"cds_length": 5451,
"cdna_start": 3454,
"cdna_end": null,
"cdna_length": 5983,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000424408.6"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMA4",
"gene_hgnc_id": 6484,
"hgvs_c": "c.3048C>T",
"hgvs_p": "p.Pro1016Pro",
"transcript": "ENST00000905054.1",
"protein_id": "ENSP00000575113.1",
"transcript_support_level": null,
"aa_start": 1016,
"aa_end": null,
"aa_length": 1810,
"cds_start": 3048,
"cds_end": null,
"cds_length": 5433,
"cdna_start": 3372,
"cdna_end": null,
"cdna_length": 9117,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905054.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMA4",
"gene_hgnc_id": 6484,
"hgvs_c": "c.3048C>T",
"hgvs_p": "p.Pro1016Pro",
"transcript": "ENST00000905057.1",
"protein_id": "ENSP00000575116.1",
"transcript_support_level": null,
"aa_start": 1016,
"aa_end": null,
"aa_length": 1810,
"cds_start": 3048,
"cds_end": null,
"cds_length": 5433,
"cdna_start": 3315,
"cdna_end": null,
"cdna_length": 6020,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905057.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMA4",
"gene_hgnc_id": 6484,
"hgvs_c": "c.3048C>T",
"hgvs_p": "p.Pro1016Pro",
"transcript": "ENST00000905058.1",
"protein_id": "ENSP00000575117.1",
"transcript_support_level": null,
"aa_start": 1016,
"aa_end": null,
"aa_length": 1810,
"cds_start": 3048,
"cds_end": null,
"cds_length": 5433,
"cdna_start": 3465,
"cdna_end": null,
"cdna_length": 6158,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905058.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMA4",
"gene_hgnc_id": 6484,
"hgvs_c": "c.3066C>T",
"hgvs_p": "p.Pro1022Pro",
"transcript": "ENST00000951659.1",
"protein_id": "ENSP00000621718.1",
"transcript_support_level": null,
"aa_start": 1022,
"aa_end": null,
"aa_length": 1790,
"cds_start": 3066,
"cds_end": null,
"cds_length": 5373,
"cdna_start": 3331,
"cdna_end": null,
"cdna_length": 5946,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951659.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMA4",
"gene_hgnc_id": 6484,
"hgvs_c": "c.2886C>T",
"hgvs_p": "p.Pro962Pro",
"transcript": "ENST00000905059.1",
"protein_id": "ENSP00000575118.1",
"transcript_support_level": null,
"aa_start": 962,
"aa_end": null,
"aa_length": 1756,
"cds_start": 2886,
"cds_end": null,
"cds_length": 5271,
"cdna_start": 3134,
"cdna_end": null,
"cdna_length": 5827,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905059.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMA4",
"gene_hgnc_id": 6484,
"hgvs_c": "c.957C>T",
"hgvs_p": "p.Pro319Pro",
"transcript": "ENST00000651860.1",
"protein_id": "ENSP00000498842.1",
"transcript_support_level": null,
"aa_start": 319,
"aa_end": null,
"aa_length": 1064,
"cds_start": 957,
"cds_end": null,
"cds_length": 3195,
"cdna_start": 957,
"cdna_end": null,
"cdna_length": 3483,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000651860.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMA4",
"gene_hgnc_id": 6484,
"hgvs_c": "c.3087C>T",
"hgvs_p": "p.Pro1029Pro",
"transcript": "XM_005266983.5",
"protein_id": "XP_005267040.2",
"transcript_support_level": null,
"aa_start": 1029,
"aa_end": null,
"aa_length": 1823,
"cds_start": 3087,
"cds_end": null,
"cds_length": 5472,
"cdna_start": 3354,
"cdna_end": null,
"cdna_length": 7245,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005266983.5"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMA4",
"gene_hgnc_id": 6484,
"hgvs_c": "c.3087C>T",
"hgvs_p": "p.Pro1029Pro",
"transcript": "XM_005266984.5",
"protein_id": "XP_005267041.2",
"transcript_support_level": null,
"aa_start": 1029,
"aa_end": null,
"aa_length": 1823,
"cds_start": 3087,
"cds_end": null,
"cds_length": 5472,
"cdna_start": 3357,
"cdna_end": null,
"cdna_length": 7248,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005266984.5"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMA4",
"gene_hgnc_id": 6484,
"hgvs_c": "c.3087C>T",
"hgvs_p": "p.Pro1029Pro",
"transcript": "XM_047418769.1",
"protein_id": "XP_047274725.1",
"transcript_support_level": null,
"aa_start": 1029,
"aa_end": null,
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"cds_start": 3087,
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"cdna_start": 3457,
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"cdna_length": 7348,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418769.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMA4",
"gene_hgnc_id": 6484,
"hgvs_c": "c.3066C>T",
"hgvs_p": "p.Pro1022Pro",
"transcript": "XM_017010854.3",
"protein_id": "XP_016866343.1",
"transcript_support_level": null,
"aa_start": 1022,
"aa_end": null,
"aa_length": 1816,
"cds_start": 3066,
"cds_end": null,
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"cdna_start": 3336,
"cdna_end": null,
"cdna_length": 7227,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017010854.3"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMA4",
"gene_hgnc_id": 6484,
"hgvs_c": "c.3066C>T",
"hgvs_p": "p.Pro1022Pro",
"transcript": "XM_047418770.1",
"protein_id": "XP_047274726.1",
"transcript_support_level": null,
"aa_start": 1022,
"aa_end": null,
"aa_length": 1816,
"cds_start": 3066,
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"cdna_start": 3455,
"cdna_end": null,
"cdna_length": 7346,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418770.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMA4",
"gene_hgnc_id": 6484,
"hgvs_c": "c.3087C>T",
"hgvs_p": "p.Pro1029Pro",
"transcript": "XM_047418771.1",
"protein_id": "XP_047274727.1",
"transcript_support_level": null,
"aa_start": 1029,
"aa_end": null,
"aa_length": 1279,
"cds_start": 3087,
"cds_end": null,
"cds_length": 3840,
"cdna_start": 3354,
"cdna_end": null,
"cdna_length": 4155,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418771.1"
},
{
"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.1633+25399C>T",
"hgvs_p": null,
"transcript": "ENST00000951658.1",
"protein_id": "ENSP00000621717.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 571,
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"biotype": "protein_coding",
"feature": "ENST00000951658.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 2,
"intron_rank": 1,
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"gene_symbol": "ENSG00000237234",
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"hgvs_c": "n.250+326G>A",
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"transcript": "ENST00000784580.1",
"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": 664,
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"biotype": "pseudogene",
"feature": "ENST00000784580.1"
},
{
"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": "ENSG00000237234",
"gene_hgnc_id": null,
"hgvs_c": "n.240+326G>A",
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"transcript": "ENST00000784581.1",
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"biotype": "pseudogene",
"feature": "ENST00000784581.1"
},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LOC107986633",
"gene_hgnc_id": null,
"hgvs_c": "n.440-15545G>A",
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"transcript": "XR_001744299.2",
"protein_id": null,
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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,
"cdna_end": null,
"cdna_length": 853,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_001744299.2"
}
],
"gene_symbol": "LAMA4",
"gene_hgnc_id": 6484,
"dbsnp": "rs146880158",
"frequency_reference_population": 0.000034694945,
"hom_count_reference_population": 0,
"allele_count_reference_population": 56,
"gnomad_exomes_af": 0.0000239435,
"gnomad_genomes_af": 0.000137893,
"gnomad_exomes_ac": 35,
"gnomad_genomes_ac": 21,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.6700000166893005,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"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": -0.67,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.266,
"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": -17,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BS2",
"acmg_by_gene": [
{
"score": -17,
"benign_score": 17,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001105206.3",
"gene_symbol": "LAMA4",
"hgnc_id": 6484,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.3087C>T",
"hgvs_p": "p.Pro1029Pro"
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong"
],
"verdict": "Benign",
"transcript": "ENST00000784580.1",
"gene_symbol": "ENSG00000237234",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.250+326G>A",
"hgvs_p": null
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong"
],
"verdict": "Benign",
"transcript": "XR_001744299.2",
"gene_symbol": "LOC107986633",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.440-15545G>A",
"hgvs_p": null
}
],
"clinvar_disease": "Cardiovascular phenotype,Dilated cardiomyopathy 1JJ,not provided,not specified",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:5",
"phenotype_combined": "not specified|Dilated cardiomyopathy 1JJ|not provided|Cardiovascular phenotype",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}