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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: 2-130346062-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=130346062&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 130346062,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000259239.8",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMP4",
"gene_hgnc_id": 30856,
"hgvs_c": "c.639C>G",
"hgvs_p": "p.Asp213Glu",
"transcript": "NM_033416.3",
"protein_id": "NP_219484.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 291,
"cds_start": 639,
"cds_end": null,
"cds_length": 876,
"cdna_start": 675,
"cdna_end": null,
"cdna_length": 2411,
"mane_select": "ENST00000259239.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMP4",
"gene_hgnc_id": 30856,
"hgvs_c": "c.639C>G",
"hgvs_p": "p.Asp213Glu",
"transcript": "ENST00000259239.8",
"protein_id": "ENSP00000259239.3",
"transcript_support_level": 1,
"aa_start": 213,
"aa_end": null,
"aa_length": 291,
"cds_start": 639,
"cds_end": null,
"cds_length": 876,
"cdna_start": 675,
"cdna_end": null,
"cdna_length": 2411,
"mane_select": "NM_033416.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMP4",
"gene_hgnc_id": 30856,
"hgvs_c": "n.800C>G",
"hgvs_p": null,
"transcript": "ENST00000460766.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2379,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMP4",
"gene_hgnc_id": 30856,
"hgvs_c": "c.723C>G",
"hgvs_p": "p.Asp241Glu",
"transcript": "NM_001371725.1",
"protein_id": "NP_001358654.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 319,
"cds_start": 723,
"cds_end": null,
"cds_length": 960,
"cdna_start": 759,
"cdna_end": null,
"cdna_length": 2495,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMP4",
"gene_hgnc_id": 30856,
"hgvs_c": "c.599C>G",
"hgvs_p": "p.Thr200Arg",
"transcript": "NM_001371726.1",
"protein_id": "NP_001358655.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 307,
"cds_start": 599,
"cds_end": null,
"cds_length": 924,
"cdna_start": 635,
"cdna_end": null,
"cdna_length": 2459,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMP4",
"gene_hgnc_id": 30856,
"hgvs_c": "c.636C>G",
"hgvs_p": "p.Asp212Glu",
"transcript": "NM_001371728.1",
"protein_id": "NP_001358657.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 290,
"cds_start": 636,
"cds_end": null,
"cds_length": 873,
"cdna_start": 672,
"cdna_end": null,
"cdna_length": 2408,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMP4",
"gene_hgnc_id": 30856,
"hgvs_c": "c.633C>G",
"hgvs_p": "p.Asp211Glu",
"transcript": "NM_001320304.2",
"protein_id": "NP_001307233.1",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 289,
"cds_start": 633,
"cds_end": null,
"cds_length": 870,
"cdna_start": 669,
"cdna_end": null,
"cdna_length": 2405,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMP4",
"gene_hgnc_id": 30856,
"hgvs_c": "c.603C>G",
"hgvs_p": "p.Asp201Glu",
"transcript": "ENST00000452955.1",
"protein_id": "ENSP00000409371.1",
"transcript_support_level": 3,
"aa_start": 201,
"aa_end": null,
"aa_length": 279,
"cds_start": 603,
"cds_end": null,
"cds_length": 840,
"cdna_start": 605,
"cdna_end": null,
"cdna_length": 923,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMP4",
"gene_hgnc_id": 30856,
"hgvs_c": "c.585C>G",
"hgvs_p": "p.Asp195Glu",
"transcript": "NM_001320305.2",
"protein_id": "NP_001307234.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 273,
"cds_start": 585,
"cds_end": null,
"cds_length": 822,
"cdna_start": 621,
"cdna_end": null,
"cdna_length": 2357,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMP4",
"gene_hgnc_id": 30856,
"hgvs_c": "c.639C>G",
"hgvs_p": "p.Asp213Glu",
"transcript": "ENST00000409935.5",
"protein_id": "ENSP00000386411.1",
"transcript_support_level": 5,
"aa_start": 213,
"aa_end": null,
"aa_length": 248,
"cds_start": 639,
"cds_end": null,
"cds_length": 747,
"cdna_start": 695,
"cdna_end": null,
"cdna_length": 958,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMP4",
"gene_hgnc_id": 30856,
"hgvs_c": "c.474C>G",
"hgvs_p": "p.Asp158Glu",
"transcript": "NM_001320306.2",
"protein_id": "NP_001307235.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 236,
"cds_start": 474,
"cds_end": null,
"cds_length": 711,
"cdna_start": 688,
"cdna_end": null,
"cdna_length": 2424,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMP4",
"gene_hgnc_id": 30856,
"hgvs_c": "c.474C>G",
"hgvs_p": "p.Asp158Glu",
"transcript": "NM_001320307.2",
"protein_id": "NP_001307236.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 236,
"cds_start": 474,
"cds_end": null,
"cds_length": 711,
"cdna_start": 715,
"cdna_end": null,
"cdna_length": 2451,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMP4",
"gene_hgnc_id": 30856,
"hgvs_c": "c.474C>G",
"hgvs_p": "p.Asp158Glu",
"transcript": "ENST00000428740.5",
"protein_id": "ENSP00000389701.1",
"transcript_support_level": 3,
"aa_start": 158,
"aa_end": null,
"aa_length": 235,
"cds_start": 474,
"cds_end": null,
"cds_length": 710,
"cdna_start": 688,
"cdna_end": null,
"cdna_length": 924,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMP4",
"gene_hgnc_id": 30856,
"hgvs_c": "c.468C>G",
"hgvs_p": "p.Asp156Glu",
"transcript": "NM_001371730.1",
"protein_id": "NP_001358659.1",
"transcript_support_level": null,
"aa_start": 156,
"aa_end": null,
"aa_length": 234,
"cds_start": 468,
"cds_end": null,
"cds_length": 705,
"cdna_start": 786,
"cdna_end": null,
"cdna_length": 2522,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMP4",
"gene_hgnc_id": 30856,
"hgvs_c": "c.384C>G",
"hgvs_p": "p.Asp128Glu",
"transcript": "NM_001320309.2",
"protein_id": "NP_001307238.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 206,
"cds_start": 384,
"cds_end": null,
"cds_length": 621,
"cdna_start": 825,
"cdna_end": null,
"cdna_length": 2561,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMP4",
"gene_hgnc_id": 30856,
"hgvs_c": "c.384C>G",
"hgvs_p": "p.Asp128Glu",
"transcript": "NM_001320310.2",
"protein_id": "NP_001307239.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 206,
"cds_start": 384,
"cds_end": null,
"cds_length": 621,
"cdna_start": 702,
"cdna_end": null,
"cdna_length": 2438,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMP4",
"gene_hgnc_id": 30856,
"hgvs_c": "c.384C>G",
"hgvs_p": "p.Asp128Glu",
"transcript": "NM_001371731.1",
"protein_id": "NP_001358660.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 206,
"cds_start": 384,
"cds_end": null,
"cds_length": 621,
"cdna_start": 605,
"cdna_end": null,
"cdna_length": 2341,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMP4",
"gene_hgnc_id": 30856,
"hgvs_c": "c.384C>G",
"hgvs_p": "p.Asp128Glu",
"transcript": "NM_001371732.1",
"protein_id": "NP_001358661.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 206,
"cds_start": 384,
"cds_end": null,
"cds_length": 621,
"cdna_start": 683,
"cdna_end": null,
"cdna_length": 2419,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMP4",
"gene_hgnc_id": 30856,
"hgvs_c": "c.384C>G",
"hgvs_p": "p.Asp128Glu",
"transcript": "NM_001371733.1",
"protein_id": "NP_001358662.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 206,
"cds_start": 384,
"cds_end": null,
"cds_length": 621,
"cdna_start": 696,
"cdna_end": null,
"cdna_length": 2432,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMP4",
"gene_hgnc_id": 30856,
"hgvs_c": "c.384C>G",
"hgvs_p": "p.Asp128Glu",
"transcript": "NM_001371734.1",
"protein_id": "NP_001358663.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 206,
"cds_start": 384,
"cds_end": null,
"cds_length": 621,
"cdna_start": 667,
"cdna_end": null,
"cdna_length": 2403,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMP4",
"gene_hgnc_id": 30856,
"hgvs_c": "c.375C>G",
"hgvs_p": "p.Asp125Glu",
"transcript": "NM_001320311.2",
"protein_id": "NP_001307240.1",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 203,
"cds_start": 375,
"cds_end": null,
"cds_length": 612,
"cdna_start": 693,
"cdna_end": null,
"cdna_length": 2429,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMP4",
"gene_hgnc_id": 30856,
"hgvs_c": "c.384C>G",
"hgvs_p": "p.Asp128Glu",
"transcript": "ENST00000409649.5",
"protein_id": "ENSP00000386716.1",
"transcript_support_level": 2,
"aa_start": 128,
"aa_end": null,
"aa_length": 171,
"cds_start": 384,
"cds_end": null,
"cds_length": 517,
"cdna_start": 689,
"cdna_end": null,
"cdna_length": 822,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMP4",
"gene_hgnc_id": 30856,
"hgvs_c": "n.267C>G",
"hgvs_p": null,
"transcript": "ENST00000460100.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
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},
{
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"strand": true,
"consequences": [
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],
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"exon_count": 3,
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},
{
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"protein_coding": false,
"strand": true,
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],
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"exon_count": 7,
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},
{
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"strand": true,
"consequences": [
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],
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"exon_count": 8,
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"feature": null
},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
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"gene_symbol": "IMP4",
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},
{
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"non_coding_transcript_exon_variant"
],
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"gene_symbol": "IMP4",
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},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
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"exon_count": 6,
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"gene_symbol": "IMP4",
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"hgvs_c": "n.*10C>G",
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"transcript": "ENST00000490895.5",
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"cds_end": null,
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}
],
"gene_symbol": "IMP4",
"gene_hgnc_id": 30856,
"dbsnp": "rs11542415",
"frequency_reference_population": 0.000002736199,
"hom_count_reference_population": 0,
"allele_count_reference_population": 4,
"gnomad_exomes_af": 0.0000027362,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 4,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.2224225401878357,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.145,
"revel_prediction": "Benign",
"alphamissense_score": 0.1361,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.44,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.431,
"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": "ENST00000259239.8",
"gene_symbol": "IMP4",
"hgnc_id": 30856,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.639C>G",
"hgvs_p": "p.Asp213Glu"
}
],
"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
}