← Back to variant description
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: 5-180791831-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=180791831&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 180791831,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000307826.5",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGAT1",
"gene_hgnc_id": 7044,
"hgvs_c": "c.1141C>T",
"hgvs_p": "p.Leu381Leu",
"transcript": "NM_002406.4",
"protein_id": "NP_002397.2",
"transcript_support_level": null,
"aa_start": 381,
"aa_end": null,
"aa_length": 445,
"cds_start": 1141,
"cds_end": null,
"cds_length": 1338,
"cdna_start": 1394,
"cdna_end": null,
"cdna_length": 8445,
"mane_select": "ENST00000307826.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGAT1",
"gene_hgnc_id": 7044,
"hgvs_c": "c.1141C>T",
"hgvs_p": "p.Leu381Leu",
"transcript": "ENST00000307826.5",
"protein_id": "ENSP00000311888.4",
"transcript_support_level": 1,
"aa_start": 381,
"aa_end": null,
"aa_length": 445,
"cds_start": 1141,
"cds_end": null,
"cds_length": 1338,
"cdna_start": 1394,
"cdna_end": null,
"cdna_length": 8445,
"mane_select": "NM_002406.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGAT1",
"gene_hgnc_id": 7044,
"hgvs_c": "c.1141C>T",
"hgvs_p": "p.Leu381Leu",
"transcript": "NM_001114617.2",
"protein_id": "NP_001108089.1",
"transcript_support_level": null,
"aa_start": 381,
"aa_end": null,
"aa_length": 445,
"cds_start": 1141,
"cds_end": null,
"cds_length": 1338,
"cdna_start": 1794,
"cdna_end": null,
"cdna_length": 8845,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGAT1",
"gene_hgnc_id": 7044,
"hgvs_c": "c.1141C>T",
"hgvs_p": "p.Leu381Leu",
"transcript": "NM_001114618.1",
"protein_id": "NP_001108090.1",
"transcript_support_level": null,
"aa_start": 381,
"aa_end": null,
"aa_length": 445,
"cds_start": 1141,
"cds_end": null,
"cds_length": 1338,
"cdna_start": 1880,
"cdna_end": null,
"cdna_length": 3170,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGAT1",
"gene_hgnc_id": 7044,
"hgvs_c": "c.1141C>T",
"hgvs_p": "p.Leu381Leu",
"transcript": "NM_001114619.1",
"protein_id": "NP_001108091.1",
"transcript_support_level": null,
"aa_start": 381,
"aa_end": null,
"aa_length": 445,
"cds_start": 1141,
"cds_end": null,
"cds_length": 1338,
"cdna_start": 1357,
"cdna_end": null,
"cdna_length": 2647,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGAT1",
"gene_hgnc_id": 7044,
"hgvs_c": "c.1141C>T",
"hgvs_p": "p.Leu381Leu",
"transcript": "NM_001114620.1",
"protein_id": "NP_001108092.1",
"transcript_support_level": null,
"aa_start": 381,
"aa_end": null,
"aa_length": 445,
"cds_start": 1141,
"cds_end": null,
"cds_length": 1338,
"cdna_start": 1568,
"cdna_end": null,
"cdna_length": 2858,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGAT1",
"gene_hgnc_id": 7044,
"hgvs_c": "c.1141C>T",
"hgvs_p": "p.Leu381Leu",
"transcript": "NM_001364377.2",
"protein_id": "NP_001351306.1",
"transcript_support_level": null,
"aa_start": 381,
"aa_end": null,
"aa_length": 445,
"cds_start": 1141,
"cds_end": null,
"cds_length": 1338,
"cdna_start": 2354,
"cdna_end": null,
"cdna_length": 9405,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGAT1",
"gene_hgnc_id": 7044,
"hgvs_c": "c.1141C>T",
"hgvs_p": "p.Leu381Leu",
"transcript": "NM_001364379.2",
"protein_id": "NP_001351308.1",
"transcript_support_level": null,
"aa_start": 381,
"aa_end": null,
"aa_length": 445,
"cds_start": 1141,
"cds_end": null,
"cds_length": 1338,
"cdna_start": 1899,
"cdna_end": null,
"cdna_length": 8950,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGAT1",
"gene_hgnc_id": 7044,
"hgvs_c": "c.1141C>T",
"hgvs_p": "p.Leu381Leu",
"transcript": "NM_001364380.2",
"protein_id": "NP_001351309.1",
"transcript_support_level": null,
"aa_start": 381,
"aa_end": null,
"aa_length": 445,
"cds_start": 1141,
"cds_end": null,
"cds_length": 1338,
"cdna_start": 1888,
"cdna_end": null,
"cdna_length": 8939,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGAT1",
"gene_hgnc_id": 7044,
"hgvs_c": "c.1141C>T",
"hgvs_p": "p.Leu381Leu",
"transcript": "NM_001364381.2",
"protein_id": "NP_001351310.1",
"transcript_support_level": null,
"aa_start": 381,
"aa_end": null,
"aa_length": 445,
"cds_start": 1141,
"cds_end": null,
"cds_length": 1338,
"cdna_start": 1889,
"cdna_end": null,
"cdna_length": 8940,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGAT1",
"gene_hgnc_id": 7044,
"hgvs_c": "c.1141C>T",
"hgvs_p": "p.Leu381Leu",
"transcript": "NM_001364382.2",
"protein_id": "NP_001351311.1",
"transcript_support_level": null,
"aa_start": 381,
"aa_end": null,
"aa_length": 445,
"cds_start": 1141,
"cds_end": null,
"cds_length": 1338,
"cdna_start": 1470,
"cdna_end": null,
"cdna_length": 8521,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGAT1",
"gene_hgnc_id": 7044,
"hgvs_c": "c.1141C>T",
"hgvs_p": "p.Leu381Leu",
"transcript": "NM_001364383.2",
"protein_id": "NP_001351312.1",
"transcript_support_level": null,
"aa_start": 381,
"aa_end": null,
"aa_length": 445,
"cds_start": 1141,
"cds_end": null,
"cds_length": 1338,
"cdna_start": 1459,
"cdna_end": null,
"cdna_length": 8510,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGAT1",
"gene_hgnc_id": 7044,
"hgvs_c": "c.1141C>T",
"hgvs_p": "p.Leu381Leu",
"transcript": "NM_001364384.2",
"protein_id": "NP_001351313.1",
"transcript_support_level": null,
"aa_start": 381,
"aa_end": null,
"aa_length": 445,
"cds_start": 1141,
"cds_end": null,
"cds_length": 1338,
"cdna_start": 1721,
"cdna_end": null,
"cdna_length": 8772,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGAT1",
"gene_hgnc_id": 7044,
"hgvs_c": "c.1141C>T",
"hgvs_p": "p.Leu381Leu",
"transcript": "NM_001364385.2",
"protein_id": "NP_001351314.1",
"transcript_support_level": null,
"aa_start": 381,
"aa_end": null,
"aa_length": 445,
"cds_start": 1141,
"cds_end": null,
"cds_length": 1338,
"cdna_start": 1579,
"cdna_end": null,
"cdna_length": 8630,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGAT1",
"gene_hgnc_id": 7044,
"hgvs_c": "c.1141C>T",
"hgvs_p": "p.Leu381Leu",
"transcript": "NM_001364386.2",
"protein_id": "NP_001351315.1",
"transcript_support_level": null,
"aa_start": 381,
"aa_end": null,
"aa_length": 445,
"cds_start": 1141,
"cds_end": null,
"cds_length": 1338,
"cdna_start": 2208,
"cdna_end": null,
"cdna_length": 9259,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGAT1",
"gene_hgnc_id": 7044,
"hgvs_c": "c.1141C>T",
"hgvs_p": "p.Leu381Leu",
"transcript": "NM_001364387.2",
"protein_id": "NP_001351316.1",
"transcript_support_level": null,
"aa_start": 381,
"aa_end": null,
"aa_length": 445,
"cds_start": 1141,
"cds_end": null,
"cds_length": 1338,
"cdna_start": 2236,
"cdna_end": null,
"cdna_length": 9287,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGAT1",
"gene_hgnc_id": 7044,
"hgvs_c": "c.1141C>T",
"hgvs_p": "p.Leu381Leu",
"transcript": "NM_001364388.2",
"protein_id": "NP_001351317.1",
"transcript_support_level": null,
"aa_start": 381,
"aa_end": null,
"aa_length": 445,
"cds_start": 1141,
"cds_end": null,
"cds_length": 1338,
"cdna_start": 1796,
"cdna_end": null,
"cdna_length": 8847,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGAT1",
"gene_hgnc_id": 7044,
"hgvs_c": "c.1141C>T",
"hgvs_p": "p.Leu381Leu",
"transcript": "NM_001364389.2",
"protein_id": "NP_001351318.1",
"transcript_support_level": null,
"aa_start": 381,
"aa_end": null,
"aa_length": 445,
"cds_start": 1141,
"cds_end": null,
"cds_length": 1338,
"cdna_start": 1715,
"cdna_end": null,
"cdna_length": 8766,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGAT1",
"gene_hgnc_id": 7044,
"hgvs_c": "c.1141C>T",
"hgvs_p": "p.Leu381Leu",
"transcript": "NM_001364390.2",
"protein_id": "NP_001351319.1",
"transcript_support_level": null,
"aa_start": 381,
"aa_end": null,
"aa_length": 445,
"cds_start": 1141,
"cds_end": null,
"cds_length": 1338,
"cdna_start": 1825,
"cdna_end": null,
"cdna_length": 8876,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGAT1",
"gene_hgnc_id": 7044,
"hgvs_c": "c.1141C>T",
"hgvs_p": "p.Leu381Leu",
"transcript": "NM_001364391.2",
"protein_id": "NP_001351320.1",
"transcript_support_level": null,
"aa_start": 381,
"aa_end": null,
"aa_length": 445,
"cds_start": 1141,
"cds_end": null,
"cds_length": 1338,
"cdna_start": 1411,
"cdna_end": null,
"cdna_length": 8462,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGAT1",
"gene_hgnc_id": 7044,
"hgvs_c": "c.1141C>T",
"hgvs_p": "p.Leu381Leu",
"transcript": "NM_001364392.2",
"protein_id": "NP_001351321.1",
"transcript_support_level": null,
"aa_start": 381,
"aa_end": null,
"aa_length": 445,
"cds_start": 1141,
"cds_end": null,
"cds_length": 1338,
"cdna_start": 1398,
"cdna_end": null,
"cdna_length": 8449,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGAT1",
"gene_hgnc_id": 7044,
"hgvs_c": "c.1141C>T",
"hgvs_p": "p.Leu381Leu",
"transcript": "NM_001364393.2",
"protein_id": "NP_001351322.1",
"transcript_support_level": null,
"aa_start": 381,
"aa_end": null,
"aa_length": 445,
"cds_start": 1141,
"cds_end": null,
"cds_length": 1338,
"cdna_start": 1494,
"cdna_end": null,
"cdna_length": 8545,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGAT1",
"gene_hgnc_id": 7044,
"hgvs_c": "c.1141C>T",
"hgvs_p": "p.Leu381Leu",
"transcript": "NM_001364394.2",
"protein_id": "NP_001351323.1",
"transcript_support_level": null,
"aa_start": 381,
"aa_end": null,
"aa_length": 445,
"cds_start": 1141,
"cds_end": null,
"cds_length": 1338,
"cdna_start": 1614,
"cdna_end": null,
"cdna_length": 8665,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGAT1",
"gene_hgnc_id": 7044,
"hgvs_c": "c.1141C>T",
"hgvs_p": "p.Leu381Leu",
"transcript": "NM_001364395.2",
"protein_id": "NP_001351324.1",
"transcript_support_level": null,
"aa_start": 381,
"aa_end": null,
"aa_length": 445,
"cds_start": 1141,
"cds_end": null,
"cds_length": 1338,
"cdna_start": 1432,
"cdna_end": null,
"cdna_length": 8483,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGAT1",
"gene_hgnc_id": 7044,
"hgvs_c": "c.1141C>T",
"hgvs_p": "p.Leu381Leu",
"transcript": "ENST00000333055.8",
"protein_id": "ENSP00000332073.3",
"transcript_support_level": 2,
"aa_start": 381,
"aa_end": null,
"aa_length": 445,
"cds_start": 1141,
"cds_end": null,
"cds_length": 1338,
"cdna_start": 1814,
"cdna_end": null,
"cdna_length": 8863,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGAT1",
"gene_hgnc_id": 7044,
"hgvs_c": "c.1141C>T",
"hgvs_p": "p.Leu381Leu",
"transcript": "ENST00000393340.7",
"protein_id": "ENSP00000377010.3",
"transcript_support_level": 2,
"aa_start": 381,
"aa_end": null,
"aa_length": 445,
"cds_start": 1141,
"cds_end": null,
"cds_length": 1338,
"cdna_start": 1794,
"cdna_end": null,
"cdna_length": 3077,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGAT1",
"gene_hgnc_id": 7044,
"hgvs_c": "c.1141C>T",
"hgvs_p": "p.Leu381Leu",
"transcript": "ENST00000427865.2",
"protein_id": "ENSP00000402838.2",
"transcript_support_level": 2,
"aa_start": 381,
"aa_end": null,
"aa_length": 445,
"cds_start": 1141,
"cds_end": null,
"cds_length": 1338,
"cdna_start": 1570,
"cdna_end": null,
"cdna_length": 1919,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGAT1",
"gene_hgnc_id": 7044,
"hgvs_c": "c.1141C>T",
"hgvs_p": "p.Leu381Leu",
"transcript": "ENST00000446023.6",
"protein_id": "ENSP00000404718.2",
"transcript_support_level": 2,
"aa_start": 381,
"aa_end": null,
"aa_length": 445,
"cds_start": 1141,
"cds_end": null,
"cds_length": 1338,
"cdna_start": 1892,
"cdna_end": null,
"cdna_length": 3175,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGAT1",
"gene_hgnc_id": 7044,
"hgvs_c": "c.1141C>T",
"hgvs_p": "p.Leu381Leu",
"transcript": "XM_047417221.1",
"protein_id": "XP_047273177.1",
"transcript_support_level": null,
"aa_start": 381,
"aa_end": null,
"aa_length": 445,
"cds_start": 1141,
"cds_end": null,
"cds_length": 1338,
"cdna_start": 6750,
"cdna_end": null,
"cdna_length": 13801,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGAT1",
"gene_hgnc_id": 7044,
"hgvs_c": "c.1141C>T",
"hgvs_p": "p.Leu381Leu",
"transcript": "XM_047417222.1",
"protein_id": "XP_047273178.1",
"transcript_support_level": null,
"aa_start": 381,
"aa_end": null,
"aa_length": 445,
"cds_start": 1141,
"cds_end": null,
"cds_length": 1338,
"cdna_start": 6453,
"cdna_end": null,
"cdna_length": 13504,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGAT1",
"gene_hgnc_id": 7044,
"hgvs_c": "c.1141C>T",
"hgvs_p": "p.Leu381Leu",
"transcript": "XM_047417223.1",
"protein_id": "XP_047273179.1",
"transcript_support_level": null,
"aa_start": 381,
"aa_end": null,
"aa_length": 445,
"cds_start": 1141,
"cds_end": null,
"cds_length": 1338,
"cdna_start": 1961,
"cdna_end": null,
"cdna_length": 9012,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGAT1",
"gene_hgnc_id": 7044,
"hgvs_c": "c.1141C>T",
"hgvs_p": "p.Leu381Leu",
"transcript": "XM_047417224.1",
"protein_id": "XP_047273180.1",
"transcript_support_level": null,
"aa_start": 381,
"aa_end": null,
"aa_length": 445,
"cds_start": 1141,
"cds_end": null,
"cds_length": 1338,
"cdna_start": 2641,
"cdna_end": null,
"cdna_length": 9692,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGAT1",
"gene_hgnc_id": 7044,
"hgvs_c": "c.1141C>T",
"hgvs_p": "p.Leu381Leu",
"transcript": "XM_047417225.1",
"protein_id": "XP_047273181.1",
"transcript_support_level": null,
"aa_start": 381,
"aa_end": null,
"aa_length": 445,
"cds_start": 1141,
"cds_end": null,
"cds_length": 1338,
"cdna_start": 1940,
"cdna_end": null,
"cdna_length": 8991,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGAT1",
"gene_hgnc_id": 7044,
"hgvs_c": "c.1141C>T",
"hgvs_p": "p.Leu381Leu",
"transcript": "XM_047417226.1",
"protein_id": "XP_047273182.1",
"transcript_support_level": null,
"aa_start": 381,
"aa_end": null,
"aa_length": 445,
"cds_start": 1141,
"cds_end": null,
"cds_length": 1338,
"cdna_start": 2084,
"cdna_end": null,
"cdna_length": 9135,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGAT1",
"gene_hgnc_id": 7044,
"hgvs_c": "c.1141C>T",
"hgvs_p": "p.Leu381Leu",
"transcript": "XM_047417227.1",
"protein_id": "XP_047273183.1",
"transcript_support_level": null,
"aa_start": 381,
"aa_end": null,
"aa_length": 445,
"cds_start": 1141,
"cds_end": null,
"cds_length": 1338,
"cdna_start": 1867,
"cdna_end": null,
"cdna_length": 8918,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGAT1",
"gene_hgnc_id": 7044,
"hgvs_c": "c.1141C>T",
"hgvs_p": "p.Leu381Leu",
"transcript": "XM_047417228.1",
"protein_id": "XP_047273184.1",
"transcript_support_level": null,
"aa_start": 381,
"aa_end": null,
"aa_length": 445,
"cds_start": 1141,
"cds_end": null,
"cds_length": 1338,
"cdna_start": 1566,
"cdna_end": null,
"cdna_length": 8617,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGAT1",
"gene_hgnc_id": 7044,
"hgvs_c": "c.1141C>T",
"hgvs_p": "p.Leu381Leu",
"transcript": "XM_047417229.1",
"protein_id": "XP_047273185.1",
"transcript_support_level": null,
"aa_start": 381,
"aa_end": null,
"aa_length": 445,
"cds_start": 1141,
"cds_end": null,
"cds_length": 1338,
"cdna_start": 1555,
"cdna_end": null,
"cdna_length": 8606,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "MGAT1",
"gene_hgnc_id": 7044,
"dbsnp": "rs2070924",
"frequency_reference_population": 0.053444467,
"hom_count_reference_population": 3249,
"allele_count_reference_population": 86266,
"gnomad_exomes_af": 0.0519791,
"gnomad_genomes_af": 0.0675148,
"gnomad_exomes_ac": 75987,
"gnomad_genomes_ac": 10279,
"gnomad_exomes_homalt": 2813,
"gnomad_genomes_homalt": 436,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.5400000214576721,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.54,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.392,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.03,
"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": -13,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP7,BA1",
"acmg_by_gene": [
{
"score": -13,
"benign_score": 13,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000307826.5",
"gene_symbol": "MGAT1",
"hgnc_id": 7044,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1141C>T",
"hgvs_p": "p.Leu381Leu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}