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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: 6-41649706-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=41649706&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 41649706,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_005586.4",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDFI",
"gene_hgnc_id": 6967,
"hgvs_c": "c.347C>T",
"hgvs_p": "p.Ala116Val",
"transcript": "NM_005586.4",
"protein_id": "NP_005577.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 246,
"cds_start": 347,
"cds_end": null,
"cds_length": 741,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000230321.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005586.4"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDFI",
"gene_hgnc_id": 6967,
"hgvs_c": "c.347C>T",
"hgvs_p": "p.Ala116Val",
"transcript": "ENST00000230321.11",
"protein_id": "ENSP00000230321.6",
"transcript_support_level": 1,
"aa_start": 116,
"aa_end": null,
"aa_length": 246,
"cds_start": 347,
"cds_end": null,
"cds_length": 741,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005586.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000230321.11"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDFI",
"gene_hgnc_id": 6967,
"hgvs_c": "c.347C>T",
"hgvs_p": "p.Ala116Val",
"transcript": "NM_001300804.2",
"protein_id": "NP_001287733.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 246,
"cds_start": 347,
"cds_end": null,
"cds_length": 741,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001300804.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDFI",
"gene_hgnc_id": 6967,
"hgvs_c": "c.347C>T",
"hgvs_p": "p.Ala116Val",
"transcript": "NM_001300806.2",
"protein_id": "NP_001287735.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 246,
"cds_start": 347,
"cds_end": null,
"cds_length": 741,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001300806.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDFI",
"gene_hgnc_id": 6967,
"hgvs_c": "c.347C>T",
"hgvs_p": "p.Ala116Val",
"transcript": "ENST00000373051.6",
"protein_id": "ENSP00000362142.2",
"transcript_support_level": 5,
"aa_start": 116,
"aa_end": null,
"aa_length": 246,
"cds_start": 347,
"cds_end": null,
"cds_length": 741,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000373051.6"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDFI",
"gene_hgnc_id": 6967,
"hgvs_c": "c.347C>T",
"hgvs_p": "p.Ala116Val",
"transcript": "ENST00000909785.1",
"protein_id": "ENSP00000579844.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 246,
"cds_start": 347,
"cds_end": null,
"cds_length": 741,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909785.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDFI",
"gene_hgnc_id": 6967,
"hgvs_c": "c.347C>T",
"hgvs_p": "p.Ala116Val",
"transcript": "ENST00000928623.1",
"protein_id": "ENSP00000598682.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 246,
"cds_start": 347,
"cds_end": null,
"cds_length": 741,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928623.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDFI",
"gene_hgnc_id": 6967,
"hgvs_c": "c.347C>T",
"hgvs_p": "p.Ala116Val",
"transcript": "ENST00000928624.1",
"protein_id": "ENSP00000598683.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 246,
"cds_start": 347,
"cds_end": null,
"cds_length": 741,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928624.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDFI",
"gene_hgnc_id": 6967,
"hgvs_c": "c.347C>T",
"hgvs_p": "p.Ala116Val",
"transcript": "ENST00000928626.1",
"protein_id": "ENSP00000598685.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 246,
"cds_start": 347,
"cds_end": null,
"cds_length": 741,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928626.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDFI",
"gene_hgnc_id": 6967,
"hgvs_c": "c.347C>T",
"hgvs_p": "p.Ala116Val",
"transcript": "ENST00000928627.1",
"protein_id": "ENSP00000598686.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 246,
"cds_start": 347,
"cds_end": null,
"cds_length": 741,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928627.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDFI",
"gene_hgnc_id": 6967,
"hgvs_c": "c.347C>T",
"hgvs_p": "p.Ala116Val",
"transcript": "ENST00000419164.6",
"protein_id": "ENSP00000393881.1",
"transcript_support_level": 5,
"aa_start": 116,
"aa_end": null,
"aa_length": 230,
"cds_start": 347,
"cds_end": null,
"cds_length": 694,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000419164.6"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDFI",
"gene_hgnc_id": 6967,
"hgvs_c": "c.275C>T",
"hgvs_p": "p.Ala92Val",
"transcript": "ENST00000928625.1",
"protein_id": "ENSP00000598684.1",
"transcript_support_level": null,
"aa_start": 92,
"aa_end": null,
"aa_length": 222,
"cds_start": 275,
"cds_end": null,
"cds_length": 669,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928625.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDFI",
"gene_hgnc_id": 6967,
"hgvs_c": "c.347C>T",
"hgvs_p": "p.Ala116Val",
"transcript": "ENST00000432027.5",
"protein_id": "ENSP00000413226.1",
"transcript_support_level": 3,
"aa_start": 116,
"aa_end": null,
"aa_length": 212,
"cds_start": 347,
"cds_end": null,
"cds_length": 640,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000432027.5"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDFI",
"gene_hgnc_id": 6967,
"hgvs_c": "c.164C>T",
"hgvs_p": "p.Ala55Val",
"transcript": "NM_001300805.2",
"protein_id": "NP_001287734.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 185,
"cds_start": 164,
"cds_end": null,
"cds_length": 558,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001300805.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDFI",
"gene_hgnc_id": 6967,
"hgvs_c": "c.164C>T",
"hgvs_p": "p.Ala55Val",
"transcript": "ENST00000373050.8",
"protein_id": "ENSP00000362141.4",
"transcript_support_level": 2,
"aa_start": 55,
"aa_end": null,
"aa_length": 185,
"cds_start": 164,
"cds_end": null,
"cds_length": 558,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000373050.8"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDFI",
"gene_hgnc_id": 6967,
"hgvs_c": "c.164C>T",
"hgvs_p": "p.Ala55Val",
"transcript": "ENST00000909784.1",
"protein_id": "ENSP00000579843.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 185,
"cds_start": 164,
"cds_end": null,
"cds_length": 558,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909784.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDFI",
"gene_hgnc_id": 6967,
"hgvs_c": "c.164C>T",
"hgvs_p": "p.Ala55Val",
"transcript": "ENST00000435476.1",
"protein_id": "ENSP00000403587.1",
"transcript_support_level": 2,
"aa_start": 55,
"aa_end": null,
"aa_length": 141,
"cds_start": 164,
"cds_end": null,
"cds_length": 427,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000435476.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDFI",
"gene_hgnc_id": 6967,
"hgvs_c": "c.347C>T",
"hgvs_p": "p.Ala116Val",
"transcript": "ENST00000446650.1",
"protein_id": "ENSP00000411829.1",
"transcript_support_level": 2,
"aa_start": 116,
"aa_end": null,
"aa_length": 127,
"cds_start": 347,
"cds_end": null,
"cds_length": 384,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000446650.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDFI",
"gene_hgnc_id": 6967,
"hgvs_c": "c.347C>T",
"hgvs_p": "p.Ala116Val",
"transcript": "XM_047418777.1",
"protein_id": "XP_047274733.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 246,
"cds_start": 347,
"cds_end": null,
"cds_length": 741,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418777.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDFI",
"gene_hgnc_id": 6967,
"hgvs_c": "c.347C>T",
"hgvs_p": "p.Ala116Val",
"transcript": "XM_047418778.1",
"protein_id": "XP_047274734.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 246,
"cds_start": 347,
"cds_end": null,
"cds_length": 741,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418778.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDFI",
"gene_hgnc_id": 6967,
"hgvs_c": "c.296C>T",
"hgvs_p": "p.Ala99Val",
"transcript": "XM_005249117.4",
"protein_id": "XP_005249174.1",
"transcript_support_level": null,
"aa_start": 99,
"aa_end": null,
"aa_length": 229,
"cds_start": 296,
"cds_end": null,
"cds_length": 690,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005249117.4"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDFI",
"gene_hgnc_id": 6967,
"hgvs_c": "c.296C>T",
"hgvs_p": "p.Ala99Val",
"transcript": "XM_011514625.3",
"protein_id": "XP_011512927.1",
"transcript_support_level": null,
"aa_start": 99,
"aa_end": null,
"aa_length": 229,
"cds_start": 296,
"cds_end": null,
"cds_length": 690,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011514625.3"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
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"aa_start": 99,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "XM_047418779.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
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"exon_count": 6,
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"gene_symbol": "MDFI",
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"cdna_start": null,
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"biotype": "protein_coding",
"feature": "XM_047418780.1"
},
{
"aa_ref": "A",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
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"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDFI",
"gene_hgnc_id": 6967,
"hgvs_c": "c.167C>T",
"hgvs_p": "p.Ala56Val",
"transcript": "XM_017010867.2",
"protein_id": "XP_016866356.1",
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"aa_start": 56,
"aa_end": null,
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"cds_start": 167,
"cds_end": null,
"cds_length": 561,
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"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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"biotype": "protein_coding",
"feature": "XM_017010867.2"
},
{
"aa_ref": "A",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
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"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDFI",
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"hgvs_c": "c.167C>T",
"hgvs_p": "p.Ala56Val",
"transcript": "XM_047418781.1",
"protein_id": "XP_047274737.1",
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"aa_start": 56,
"aa_end": null,
"aa_length": 186,
"cds_start": 167,
"cds_end": null,
"cds_length": 561,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418781.1"
},
{
"aa_ref": "A",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
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"exon_count": 5,
"intron_rank": null,
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"gene_symbol": "MDFI",
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"hgvs_c": "c.164C>T",
"hgvs_p": "p.Ala55Val",
"transcript": "XM_011514626.3",
"protein_id": "XP_011512928.1",
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"aa_start": 55,
"aa_end": null,
"aa_length": 185,
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"cds_end": null,
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"biotype": "protein_coding",
"feature": "XM_011514626.3"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDFI",
"gene_hgnc_id": 6967,
"hgvs_c": "n.143C>T",
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"transcript": "ENST00000471092.1",
"protein_id": null,
"transcript_support_level": 3,
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"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000471092.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDFI",
"gene_hgnc_id": 6967,
"hgvs_c": "c.*53C>T",
"hgvs_p": null,
"transcript": "ENST00000441667.5",
"protein_id": "ENSP00000406600.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 97,
"cds_start": null,
"cds_end": null,
"cds_length": 294,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000441667.5"
}
],
"gene_symbol": "MDFI",
"gene_hgnc_id": 6967,
"dbsnp": "rs150152866",
"frequency_reference_population": 0.000029742172,
"hom_count_reference_population": 0,
"allele_count_reference_population": 48,
"gnomad_exomes_af": 0.0000246298,
"gnomad_genomes_af": 0.0000788291,
"gnomad_exomes_ac": 36,
"gnomad_genomes_ac": 12,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.10102054476737976,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.036,
"revel_prediction": "Benign",
"alphamissense_score": 0.0903,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.39,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.302,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_005586.4",
"gene_symbol": "MDFI",
"hgnc_id": 6967,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.347C>T",
"hgvs_p": "p.Ala116Val"
}
],
"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
}