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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: 7-100613221-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=100613221&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 100613221,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_023948.5",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MOSPD3",
"gene_hgnc_id": 25078,
"hgvs_c": "c.233C>T",
"hgvs_p": "p.Thr78Met",
"transcript": "NM_023948.5",
"protein_id": "NP_076438.1",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 235,
"cds_start": 233,
"cds_end": null,
"cds_length": 708,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000393950.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_023948.5"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MOSPD3",
"gene_hgnc_id": 25078,
"hgvs_c": "c.233C>T",
"hgvs_p": "p.Thr78Met",
"transcript": "ENST00000393950.7",
"protein_id": "ENSP00000377522.2",
"transcript_support_level": 1,
"aa_start": 78,
"aa_end": null,
"aa_length": 235,
"cds_start": 233,
"cds_end": null,
"cds_length": 708,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_023948.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000393950.7"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MOSPD3",
"gene_hgnc_id": 25078,
"hgvs_c": "c.233C>T",
"hgvs_p": "p.Thr78Met",
"transcript": "ENST00000424091.2",
"protein_id": "ENSP00000404626.2",
"transcript_support_level": 1,
"aa_start": 78,
"aa_end": null,
"aa_length": 225,
"cds_start": 233,
"cds_end": null,
"cds_length": 678,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000424091.2"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MOSPD3",
"gene_hgnc_id": 25078,
"hgvs_c": "c.233C>T",
"hgvs_p": "p.Thr78Met",
"transcript": "ENST00000921523.1",
"protein_id": "ENSP00000591582.1",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 258,
"cds_start": 233,
"cds_end": null,
"cds_length": 777,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921523.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MOSPD3",
"gene_hgnc_id": 25078,
"hgvs_c": "c.263C>T",
"hgvs_p": "p.Thr88Met",
"transcript": "ENST00000902391.1",
"protein_id": "ENSP00000572450.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 245,
"cds_start": 263,
"cds_end": null,
"cds_length": 738,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902391.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MOSPD3",
"gene_hgnc_id": 25078,
"hgvs_c": "c.263C>T",
"hgvs_p": "p.Thr88Met",
"transcript": "ENST00000902399.1",
"protein_id": "ENSP00000572458.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 245,
"cds_start": 263,
"cds_end": null,
"cds_length": 738,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902399.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MOSPD3",
"gene_hgnc_id": 25078,
"hgvs_c": "c.233C>T",
"hgvs_p": "p.Thr78Met",
"transcript": "NM_001040097.2",
"protein_id": "NP_001035186.1",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 235,
"cds_start": 233,
"cds_end": null,
"cds_length": 708,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001040097.2"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MOSPD3",
"gene_hgnc_id": 25078,
"hgvs_c": "c.233C>T",
"hgvs_p": "p.Thr78Met",
"transcript": "NM_001040098.1",
"protein_id": "NP_001035187.1",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 235,
"cds_start": 233,
"cds_end": null,
"cds_length": 708,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001040098.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MOSPD3",
"gene_hgnc_id": 25078,
"hgvs_c": "c.233C>T",
"hgvs_p": "p.Thr78Met",
"transcript": "NM_001363415.1",
"protein_id": "NP_001350344.1",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 235,
"cds_start": 233,
"cds_end": null,
"cds_length": 708,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363415.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MOSPD3",
"gene_hgnc_id": 25078,
"hgvs_c": "c.233C>T",
"hgvs_p": "p.Thr78Met",
"transcript": "NM_001363416.1",
"protein_id": "NP_001350345.1",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 235,
"cds_start": 233,
"cds_end": null,
"cds_length": 708,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363416.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MOSPD3",
"gene_hgnc_id": 25078,
"hgvs_c": "c.233C>T",
"hgvs_p": "p.Thr78Met",
"transcript": "ENST00000223054.8",
"protein_id": "ENSP00000223054.4",
"transcript_support_level": 2,
"aa_start": 78,
"aa_end": null,
"aa_length": 235,
"cds_start": 233,
"cds_end": null,
"cds_length": 708,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000223054.8"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MOSPD3",
"gene_hgnc_id": 25078,
"hgvs_c": "c.233C>T",
"hgvs_p": "p.Thr78Met",
"transcript": "ENST00000379527.6",
"protein_id": "ENSP00000368842.2",
"transcript_support_level": 5,
"aa_start": 78,
"aa_end": null,
"aa_length": 235,
"cds_start": 233,
"cds_end": null,
"cds_length": 708,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000379527.6"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MOSPD3",
"gene_hgnc_id": 25078,
"hgvs_c": "c.233C>T",
"hgvs_p": "p.Thr78Met",
"transcript": "ENST00000902390.1",
"protein_id": "ENSP00000572449.1",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 235,
"cds_start": 233,
"cds_end": null,
"cds_length": 708,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902390.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MOSPD3",
"gene_hgnc_id": 25078,
"hgvs_c": "c.233C>T",
"hgvs_p": "p.Thr78Met",
"transcript": "ENST00000902396.1",
"protein_id": "ENSP00000572455.1",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 235,
"cds_start": 233,
"cds_end": null,
"cds_length": 708,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902396.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MOSPD3",
"gene_hgnc_id": 25078,
"hgvs_c": "c.263C>T",
"hgvs_p": "p.Thr88Met",
"transcript": "ENST00000902397.1",
"protein_id": "ENSP00000572456.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 235,
"cds_start": 263,
"cds_end": null,
"cds_length": 708,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902397.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MOSPD3",
"gene_hgnc_id": 25078,
"hgvs_c": "c.233C>T",
"hgvs_p": "p.Thr78Met",
"transcript": "ENST00000921521.1",
"protein_id": "ENSP00000591580.1",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 235,
"cds_start": 233,
"cds_end": null,
"cds_length": 708,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921521.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MOSPD3",
"gene_hgnc_id": 25078,
"hgvs_c": "c.233C>T",
"hgvs_p": "p.Thr78Met",
"transcript": "NM_001040099.2",
"protein_id": "NP_001035188.1",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 225,
"cds_start": 233,
"cds_end": null,
"cds_length": 678,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001040099.2"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MOSPD3",
"gene_hgnc_id": 25078,
"hgvs_c": "c.233C>T",
"hgvs_p": "p.Thr78Met",
"transcript": "ENST00000902392.1",
"protein_id": "ENSP00000572451.1",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 225,
"cds_start": 233,
"cds_end": null,
"cds_length": 678,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902392.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MOSPD3",
"gene_hgnc_id": 25078,
"hgvs_c": "c.233C>T",
"hgvs_p": "p.Thr78Met",
"transcript": "ENST00000902393.1",
"protein_id": "ENSP00000572452.1",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 225,
"cds_start": 233,
"cds_end": null,
"cds_length": 678,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902393.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MOSPD3",
"gene_hgnc_id": 25078,
"hgvs_c": "c.233C>T",
"hgvs_p": "p.Thr78Met",
"transcript": "ENST00000902395.1",
"protein_id": "ENSP00000572454.1",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 225,
"cds_start": 233,
"cds_end": null,
"cds_length": 678,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902395.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MOSPD3",
"gene_hgnc_id": 25078,
"hgvs_c": "c.233C>T",
"hgvs_p": "p.Thr78Met",
"transcript": "ENST00000493970.5",
"protein_id": "ENSP00000417276.1",
"transcript_support_level": 5,
"aa_start": 78,
"aa_end": null,
"aa_length": 224,
"cds_start": 233,
"cds_end": null,
"cds_length": 677,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000493970.5"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MOSPD3",
"gene_hgnc_id": 25078,
"hgvs_c": "c.233C>T",
"hgvs_p": "p.Thr78Met",
"transcript": "ENST00000902394.1",
"protein_id": "ENSP00000572453.1",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 180,
"cds_start": 233,
"cds_end": null,
"cds_length": 543,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902394.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
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"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MOSPD3",
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"hgvs_p": "p.Thr78Met",
"transcript": "ENST00000902398.1",
"protein_id": "ENSP00000572457.1",
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"aa_start": 78,
"aa_end": null,
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"cds_start": 233,
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"cds_length": 543,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000902398.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
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"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MOSPD3",
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"hgvs_c": "c.233C>T",
"hgvs_p": "p.Thr78Met",
"transcript": "XM_047420714.1",
"protein_id": "XP_047276670.1",
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"aa_start": 78,
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"aa_length": 235,
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"cds_end": null,
"cds_length": 708,
"cdna_start": null,
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"cdna_length": null,
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"biotype": "protein_coding",
"feature": "XM_047420714.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
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"gene_symbol": "MOSPD3",
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"hgvs_c": "c.205+225C>T",
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"transcript": "ENST00000921522.1",
"protein_id": "ENSP00000591581.1",
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"aa_end": null,
"aa_length": 78,
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"cds_end": null,
"cds_length": 237,
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"cdna_length": null,
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"biotype": "protein_coding",
"feature": "ENST00000921522.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
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"exon_count": 3,
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"gene_symbol": "MOSPD3",
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"hgvs_c": "n.550C>T",
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"transcript": "ENST00000490309.1",
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"aa_length": null,
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"cds_end": null,
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"cdna_start": null,
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"biotype": "retained_intron",
"feature": "ENST00000490309.1"
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{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
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"exon_count": 3,
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"intron_rank_end": null,
"gene_symbol": "MOSPD3",
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"hgvs_c": "n.210C>T",
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"transcript": "ENST00000497456.1",
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"transcript_support_level": 2,
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"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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"biotype": "retained_intron",
"feature": "ENST00000497456.1"
},
{
"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": 5,
"intron_rank": 2,
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"gene_symbol": "MOSPD3",
"gene_hgnc_id": 25078,
"hgvs_c": "n.205+225C>T",
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"transcript": "ENST00000462372.5",
"protein_id": "ENSP00000419535.1",
"transcript_support_level": 5,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000462372.5"
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],
"gene_symbol": "MOSPD3",
"gene_hgnc_id": 25078,
"dbsnp": "rs777453332",
"frequency_reference_population": 0.000021694797,
"hom_count_reference_population": 0,
"allele_count_reference_population": 35,
"gnomad_exomes_af": 0.000022582,
"gnomad_genomes_af": 0.0000131621,
"gnomad_exomes_ac": 33,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.28471267223358154,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.132,
"revel_prediction": "Benign",
"alphamissense_score": 0.1299,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.3,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.357,
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_023948.5",
"gene_symbol": "MOSPD3",
"hgnc_id": 25078,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.233C>T",
"hgvs_p": "p.Thr78Met"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}