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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: 8-37744563-CCT-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=37744563&ref=CCT&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 37744563,
"ref": "CCT",
"alt": "C",
"effect": "splice_region_variant,intron_variant",
"transcript": "NM_007175.8",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ERLIN2",
"gene_hgnc_id": 1356,
"hgvs_c": "c.299-4_299-3delTC",
"hgvs_p": null,
"transcript": "NM_007175.8",
"protein_id": "NP_009106.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 339,
"cds_start": null,
"cds_end": null,
"cds_length": 1020,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000519638.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_007175.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ERLIN2",
"gene_hgnc_id": 1356,
"hgvs_c": "c.299-7_299-6delCT",
"hgvs_p": null,
"transcript": "ENST00000519638.3",
"protein_id": "ENSP00000428112.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 339,
"cds_start": null,
"cds_end": null,
"cds_length": 1020,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_007175.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000519638.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ERLIN2",
"gene_hgnc_id": 1356,
"hgvs_c": "c.299-7_299-6delCT",
"hgvs_p": null,
"transcript": "ENST00000335171.10",
"protein_id": "ENSP00000335220.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 152,
"cds_start": null,
"cds_end": null,
"cds_length": 459,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000335171.10"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ERLIN2",
"gene_hgnc_id": 1356,
"hgvs_c": "c.389-7_389-6delCT",
"hgvs_p": null,
"transcript": "ENST00000963384.1",
"protein_id": "ENSP00000633443.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 369,
"cds_start": null,
"cds_end": null,
"cds_length": 1110,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963384.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ERLIN2",
"gene_hgnc_id": 1356,
"hgvs_c": "c.299-4_299-3delTC",
"hgvs_p": null,
"transcript": "NM_001362878.2",
"protein_id": "NP_001349807.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 339,
"cds_start": null,
"cds_end": null,
"cds_length": 1020,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001362878.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ERLIN2",
"gene_hgnc_id": 1356,
"hgvs_c": "c.299-7_299-6delCT",
"hgvs_p": null,
"transcript": "ENST00000861237.1",
"protein_id": "ENSP00000531296.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 339,
"cds_start": null,
"cds_end": null,
"cds_length": 1020,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861237.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ERLIN2",
"gene_hgnc_id": 1356,
"hgvs_c": "c.299-7_299-6delCT",
"hgvs_p": null,
"transcript": "ENST00000861238.1",
"protein_id": "ENSP00000531297.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 339,
"cds_start": null,
"cds_end": null,
"cds_length": 1020,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861238.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ERLIN2",
"gene_hgnc_id": 1356,
"hgvs_c": "c.299-7_299-6delCT",
"hgvs_p": null,
"transcript": "ENST00000861239.1",
"protein_id": "ENSP00000531298.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 339,
"cds_start": null,
"cds_end": null,
"cds_length": 1020,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861239.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ERLIN2",
"gene_hgnc_id": 1356,
"hgvs_c": "c.299-7_299-6delCT",
"hgvs_p": null,
"transcript": "ENST00000861240.1",
"protein_id": "ENSP00000531299.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 339,
"cds_start": null,
"cds_end": null,
"cds_length": 1020,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861240.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ERLIN2",
"gene_hgnc_id": 1356,
"hgvs_c": "c.299-7_299-6delCT",
"hgvs_p": null,
"transcript": "ENST00000861241.1",
"protein_id": "ENSP00000531300.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 339,
"cds_start": null,
"cds_end": null,
"cds_length": 1020,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861241.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ERLIN2",
"gene_hgnc_id": 1356,
"hgvs_c": "c.299-7_299-6delCT",
"hgvs_p": null,
"transcript": "ENST00000861242.1",
"protein_id": "ENSP00000531301.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 339,
"cds_start": null,
"cds_end": null,
"cds_length": 1020,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861242.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ERLIN2",
"gene_hgnc_id": 1356,
"hgvs_c": "c.299-7_299-6delCT",
"hgvs_p": null,
"transcript": "ENST00000861243.1",
"protein_id": "ENSP00000531302.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 339,
"cds_start": null,
"cds_end": null,
"cds_length": 1020,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861243.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ERLIN2",
"gene_hgnc_id": 1356,
"hgvs_c": "c.299-7_299-6delCT",
"hgvs_p": null,
"transcript": "ENST00000861244.1",
"protein_id": "ENSP00000531303.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 339,
"cds_start": null,
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"cds_length": 1020,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861244.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ERLIN2",
"gene_hgnc_id": 1356,
"hgvs_c": "c.299-7_299-6delCT",
"hgvs_p": null,
"transcript": "ENST00000963383.1",
"protein_id": "ENSP00000633442.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 339,
"cds_start": null,
"cds_end": null,
"cds_length": 1020,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963383.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ERLIN2",
"gene_hgnc_id": 1356,
"hgvs_c": "c.299-7_299-6delCT",
"hgvs_p": null,
"transcript": "ENST00000521644.5",
"protein_id": "ENSP00000429621.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 337,
"cds_start": null,
"cds_end": null,
"cds_length": 1016,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000521644.5"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ERLIN2",
"gene_hgnc_id": 1356,
"hgvs_c": "c.299-7_299-6delCT",
"hgvs_p": null,
"transcript": "ENST00000518586.5",
"protein_id": "ENSP00000427847.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 206,
"cds_start": null,
"cds_end": null,
"cds_length": 621,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000518586.5"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ERLIN2",
"gene_hgnc_id": 1356,
"hgvs_c": "c.299-7_299-6delCT",
"hgvs_p": null,
"transcript": "ENST00000523107.5",
"protein_id": "ENSP00000473292.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 206,
"cds_start": null,
"cds_end": null,
"cds_length": 621,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000523107.5"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ERLIN2",
"gene_hgnc_id": 1356,
"hgvs_c": "c.299-7_299-6delCT",
"hgvs_p": null,
"transcript": "ENST00000523887.5",
"protein_id": "ENSP00000429903.1",
"transcript_support_level": 2,
"aa_start": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000523887.5"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ERLIN2",
"gene_hgnc_id": 1356,
"hgvs_c": "c.170-7_170-6delCT",
"hgvs_p": null,
"transcript": "ENST00000518526.5",
"protein_id": "ENSP00000429229.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 196,
"cds_start": null,
"cds_end": null,
"cds_length": 592,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000518526.5"
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ERLIN2",
"gene_hgnc_id": 1356,
"hgvs_c": "c.299-4_299-3delTC",
"hgvs_p": null,
"transcript": "NM_001003790.4",
"protein_id": "NP_001003790.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 152,
"cds_start": null,
"cds_end": null,
"cds_length": 459,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001003790.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ERLIN2",
"gene_hgnc_id": 1356,
"hgvs_c": "c.299-4_299-3delTC",
"hgvs_p": null,
"transcript": "NM_001003791.3",
"protein_id": "NP_001003791.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 152,
"cds_start": null,
"cds_end": null,
"cds_length": 459,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001003791.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ERLIN2",
"gene_hgnc_id": 1356,
"hgvs_c": "c.299-4_299-3delTC",
"hgvs_p": null,
"transcript": "NM_001362880.2",
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"biotype": "protein_coding",
"feature": "NM_001362880.2"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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"intron_variant"
],
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"exon_count": 7,
"intron_rank": 5,
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"transcript": "ENST00000648919.1",
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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"intron_variant"
],
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"hgvs_c": "c.299-4_299-3delTC",
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"transcript": "XM_047421307.1",
"protein_id": "XP_047277263.1",
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"aa_start": null,
"aa_end": null,
"aa_length": 339,
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"cds_length": 1020,
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"feature": "XM_047421307.1"
},
{
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"protein_coding": true,
"strand": true,
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"intron_variant"
],
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"exon_count": 9,
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"hgvs_c": "c.53-4_53-3delTC",
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"transcript": "XM_047421308.1",
"protein_id": "XP_047277264.1",
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"aa_start": null,
"aa_end": null,
"aa_length": 257,
"cds_start": null,
"cds_end": null,
"cds_length": 774,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421308.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 4,
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"gene_symbol": "ERLIN2",
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"hgvs_c": "n.228-7_228-6delCT",
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"transcript": "ENST00000521993.3",
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"transcript_support_level": 3,
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"aa_end": null,
"aa_length": null,
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"cds_end": null,
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"cdna_start": null,
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"cdna_length": null,
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"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000521993.3"
},
{
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"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
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"intron_rank": 1,
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"gene_symbol": "ENSG00000183154",
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"hgvs_c": "n.676-1136_676-1135delAG",
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"transcript": "ENST00000770403.1",
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"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,
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"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000770403.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 3,
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"intron_rank_end": null,
"gene_symbol": "ERLIN2",
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"hgvs_c": "n.*148_*149delCT",
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"transcript": "ENST00000647813.1",
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"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": "pseudogene",
"feature": "ENST00000647813.1"
}
],
"gene_symbol": "ERLIN2",
"gene_hgnc_id": 1356,
"dbsnp": "rs778852699",
"frequency_reference_population": 0.00006938791,
"hom_count_reference_population": 0,
"allele_count_reference_population": 112,
"gnomad_exomes_af": 0.0000410448,
"gnomad_genomes_af": 0.00034144,
"gnomad_exomes_ac": 60,
"gnomad_genomes_ac": 52,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": 0.05000000074505806,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 0.083,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.05,
"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": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP6,BS1",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 5,
"pathogenic_score": 0,
"criteria": [
"BP6",
"BS1"
],
"verdict": "Likely_benign",
"transcript": "NM_007175.8",
"gene_symbol": "ERLIN2",
"hgnc_id": 1356,
"effects": [
"splice_region_variant",
"intron_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.299-4_299-3delTC",
"hgvs_p": null
},
{
"score": -1,
"benign_score": 1,
"pathogenic_score": 0,
"criteria": [
"BP6"
],
"verdict": "Likely_benign",
"transcript": "ENST00000770403.1",
"gene_symbol": "ENSG00000183154",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.676-1136_676-1135delAG",
"hgvs_p": null
}
],
"clinvar_disease": "Inborn genetic diseases,Spastic paraplegia,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:2 LB:1",
"phenotype_combined": "not specified|Spastic paraplegia|Inborn genetic diseases",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}