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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: 6-41646158-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=41646158&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 41646158,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_005586.4",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "I",
"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": "MDFI",
"gene_hgnc_id": 6967,
"hgvs_c": "c.109G>A",
"hgvs_p": "p.Val37Ile",
"transcript": "NM_005586.4",
"protein_id": "NP_005577.1",
"transcript_support_level": null,
"aa_start": 37,
"aa_end": null,
"aa_length": 246,
"cds_start": 109,
"cds_end": null,
"cds_length": 741,
"cdna_start": 305,
"cdna_end": null,
"cdna_length": 1606,
"mane_select": "ENST00000230321.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005586.4"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": true,
"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": "MDFI",
"gene_hgnc_id": 6967,
"hgvs_c": "c.109G>A",
"hgvs_p": "p.Val37Ile",
"transcript": "ENST00000230321.11",
"protein_id": "ENSP00000230321.6",
"transcript_support_level": 1,
"aa_start": 37,
"aa_end": null,
"aa_length": 246,
"cds_start": 109,
"cds_end": null,
"cds_length": 741,
"cdna_start": 305,
"cdna_end": null,
"cdna_length": 1606,
"mane_select": "NM_005586.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000230321.11"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDFI",
"gene_hgnc_id": 6967,
"hgvs_c": "c.109G>A",
"hgvs_p": "p.Val37Ile",
"transcript": "NM_001300804.2",
"protein_id": "NP_001287733.1",
"transcript_support_level": null,
"aa_start": 37,
"aa_end": null,
"aa_length": 246,
"cds_start": 109,
"cds_end": null,
"cds_length": 741,
"cdna_start": 612,
"cdna_end": null,
"cdna_length": 1913,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001300804.2"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDFI",
"gene_hgnc_id": 6967,
"hgvs_c": "c.109G>A",
"hgvs_p": "p.Val37Ile",
"transcript": "NM_001300806.2",
"protein_id": "NP_001287735.1",
"transcript_support_level": null,
"aa_start": 37,
"aa_end": null,
"aa_length": 246,
"cds_start": 109,
"cds_end": null,
"cds_length": 741,
"cdna_start": 391,
"cdna_end": null,
"cdna_length": 1692,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001300806.2"
},
{
"aa_ref": "V",
"aa_alt": "I",
"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": "MDFI",
"gene_hgnc_id": 6967,
"hgvs_c": "c.109G>A",
"hgvs_p": "p.Val37Ile",
"transcript": "ENST00000373051.6",
"protein_id": "ENSP00000362142.2",
"transcript_support_level": 5,
"aa_start": 37,
"aa_end": null,
"aa_length": 246,
"cds_start": 109,
"cds_end": null,
"cds_length": 741,
"cdna_start": 326,
"cdna_end": null,
"cdna_length": 1622,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000373051.6"
},
{
"aa_ref": "V",
"aa_alt": "I",
"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": "MDFI",
"gene_hgnc_id": 6967,
"hgvs_c": "c.109G>A",
"hgvs_p": "p.Val37Ile",
"transcript": "ENST00000909785.1",
"protein_id": "ENSP00000579844.1",
"transcript_support_level": null,
"aa_start": 37,
"aa_end": null,
"aa_length": 246,
"cds_start": 109,
"cds_end": null,
"cds_length": 741,
"cdna_start": 205,
"cdna_end": null,
"cdna_length": 1505,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909785.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDFI",
"gene_hgnc_id": 6967,
"hgvs_c": "c.109G>A",
"hgvs_p": "p.Val37Ile",
"transcript": "ENST00000928623.1",
"protein_id": "ENSP00000598682.1",
"transcript_support_level": null,
"aa_start": 37,
"aa_end": null,
"aa_length": 246,
"cds_start": 109,
"cds_end": null,
"cds_length": 741,
"cdna_start": 450,
"cdna_end": null,
"cdna_length": 1751,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928623.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDFI",
"gene_hgnc_id": 6967,
"hgvs_c": "c.109G>A",
"hgvs_p": "p.Val37Ile",
"transcript": "ENST00000928624.1",
"protein_id": "ENSP00000598683.1",
"transcript_support_level": null,
"aa_start": 37,
"aa_end": null,
"aa_length": 246,
"cds_start": 109,
"cds_end": null,
"cds_length": 741,
"cdna_start": 438,
"cdna_end": null,
"cdna_length": 1741,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928624.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"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": "MDFI",
"gene_hgnc_id": 6967,
"hgvs_c": "c.109G>A",
"hgvs_p": "p.Val37Ile",
"transcript": "ENST00000928626.1",
"protein_id": "ENSP00000598685.1",
"transcript_support_level": null,
"aa_start": 37,
"aa_end": null,
"aa_length": 246,
"cds_start": 109,
"cds_end": null,
"cds_length": 741,
"cdna_start": 195,
"cdna_end": null,
"cdna_length": 1496,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928626.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"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": "MDFI",
"gene_hgnc_id": 6967,
"hgvs_c": "c.109G>A",
"hgvs_p": "p.Val37Ile",
"transcript": "ENST00000928627.1",
"protein_id": "ENSP00000598686.1",
"transcript_support_level": null,
"aa_start": 37,
"aa_end": null,
"aa_length": 246,
"cds_start": 109,
"cds_end": null,
"cds_length": 741,
"cdna_start": 267,
"cdna_end": null,
"cdna_length": 1569,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928627.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDFI",
"gene_hgnc_id": 6967,
"hgvs_c": "c.109G>A",
"hgvs_p": "p.Val37Ile",
"transcript": "ENST00000419164.6",
"protein_id": "ENSP00000393881.1",
"transcript_support_level": 5,
"aa_start": 37,
"aa_end": null,
"aa_length": 230,
"cds_start": 109,
"cds_end": null,
"cds_length": 694,
"cdna_start": 612,
"cdna_end": null,
"cdna_length": 1913,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000419164.6"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDFI",
"gene_hgnc_id": 6967,
"hgvs_c": "c.37G>A",
"hgvs_p": "p.Val13Ile",
"transcript": "ENST00000928625.1",
"protein_id": "ENSP00000598684.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 222,
"cds_start": 37,
"cds_end": null,
"cds_length": 669,
"cdna_start": 342,
"cdna_end": null,
"cdna_length": 1643,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928625.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"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": "MDFI",
"gene_hgnc_id": 6967,
"hgvs_c": "c.109G>A",
"hgvs_p": "p.Val37Ile",
"transcript": "ENST00000432027.5",
"protein_id": "ENSP00000413226.1",
"transcript_support_level": 3,
"aa_start": 37,
"aa_end": null,
"aa_length": 212,
"cds_start": 109,
"cds_end": null,
"cds_length": 640,
"cdna_start": 172,
"cdna_end": null,
"cdna_length": 703,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000432027.5"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 2,
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"exon_count": 3,
"intron_rank": null,
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"gene_symbol": "MDFI",
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"hgvs_c": "c.109G>A",
"hgvs_p": "p.Val37Ile",
"transcript": "ENST00000446650.1",
"protein_id": "ENSP00000411829.1",
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"aa_start": 37,
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"cds_start": 109,
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"cdna_start": 360,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000446650.1"
},
{
"aa_ref": "V",
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"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.109G>A",
"hgvs_p": "p.Val37Ile",
"transcript": "ENST00000441667.5",
"protein_id": "ENSP00000406600.1",
"transcript_support_level": 5,
"aa_start": 37,
"aa_end": null,
"aa_length": 97,
"cds_start": 109,
"cds_end": null,
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"cdna_start": 168,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000441667.5"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDFI",
"gene_hgnc_id": 6967,
"hgvs_c": "c.109G>A",
"hgvs_p": "p.Val37Ile",
"transcript": "XM_047418777.1",
"protein_id": "XP_047274733.1",
"transcript_support_level": null,
"aa_start": 37,
"aa_end": null,
"aa_length": 246,
"cds_start": 109,
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"cdna_start": 1478,
"cdna_end": null,
"cdna_length": 2779,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418777.1"
},
{
"aa_ref": "V",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDFI",
"gene_hgnc_id": 6967,
"hgvs_c": "c.109G>A",
"hgvs_p": "p.Val37Ile",
"transcript": "XM_047418778.1",
"protein_id": "XP_047274734.1",
"transcript_support_level": null,
"aa_start": 37,
"aa_end": null,
"aa_length": 246,
"cds_start": 109,
"cds_end": null,
"cds_length": 741,
"cdna_start": 790,
"cdna_end": null,
"cdna_length": 2091,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418778.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"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": "MDFI",
"gene_hgnc_id": 6967,
"hgvs_c": "c.58G>A",
"hgvs_p": "p.Val20Ile",
"transcript": "XM_005249117.4",
"protein_id": "XP_005249174.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 229,
"cds_start": 58,
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"cdna_start": 300,
"cdna_end": null,
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"mane_select": null,
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"biotype": "protein_coding",
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},
{
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"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDFI",
"gene_hgnc_id": 6967,
"hgvs_c": "c.58G>A",
"hgvs_p": "p.Val20Ile",
"transcript": "XM_011514625.3",
"protein_id": "XP_011512927.1",
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"aa_start": 20,
"aa_end": null,
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"cds_start": 58,
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"cdna_start": 607,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011514625.3"
},
{
"aa_ref": "V",
"aa_alt": "I",
"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": "MDFI",
"gene_hgnc_id": 6967,
"hgvs_c": "c.58G>A",
"hgvs_p": "p.Val20Ile",
"transcript": "XM_047418779.1",
"protein_id": "XP_047274735.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 229,
"cds_start": 58,
"cds_end": null,
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"cdna_start": 1473,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418779.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDFI",
"gene_hgnc_id": 6967,
"hgvs_c": "c.58G>A",
"hgvs_p": "p.Val20Ile",
"transcript": "XM_047418780.1",
"protein_id": "XP_047274736.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 229,
"cds_start": 58,
"cds_end": null,
"cds_length": 690,
"cdna_start": 786,
"cdna_end": null,
"cdna_length": 2087,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418780.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDFI",
"gene_hgnc_id": 6967,
"hgvs_c": "c.-72G>A",
"hgvs_p": null,
"transcript": "XM_017010867.2",
"protein_id": "XP_016866356.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 186,
"cds_start": null,
"cds_end": null,
"cds_length": 561,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2274,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017010867.2"
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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},
{
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],
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"feature": "NM_001300805.2"
},
{
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],
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"gene_symbol": "MDFI",
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"transcript": "ENST00000373050.8",
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"biotype": "protein_coding",
"feature": "ENST00000373050.8"
},
{
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"protein_coding": true,
"strand": true,
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"intron_variant"
],
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"gene_symbol": "MDFI",
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"transcript": "ENST00000909784.1",
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"feature": "ENST00000909784.1"
},
{
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"intron_variant"
],
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"gene_symbol": "MDFI",
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"transcript": "ENST00000435476.1",
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"feature": "ENST00000435476.1"
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{
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],
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"transcript": "XM_011514626.3",
"protein_id": "XP_011512928.1",
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"biotype": "protein_coding",
"feature": "XM_011514626.3"
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
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"exon_count": 2,
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"gene_symbol": "MDFI",
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"hgvs_c": "n.-96G>A",
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"transcript": "ENST00000471092.1",
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"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"cdna_length": 549,
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"biotype": "retained_intron",
"feature": "ENST00000471092.1"
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],
"gene_symbol": "MDFI",
"gene_hgnc_id": 6967,
"dbsnp": "rs1260823586",
"frequency_reference_population": 0.0000031940147,
"hom_count_reference_population": 0,
"allele_count_reference_population": 5,
"gnomad_exomes_af": 0.00000283034,
"gnomad_genomes_af": 0.0000065716,
"gnomad_exomes_ac": 4,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.10397189855575562,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.04,
"revel_prediction": "Benign",
"alphamissense_score": 0.0924,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.45,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.23,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"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.109G>A",
"hgvs_p": "p.Val37Ile"
}
],
"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
}