← Back to variant description
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: 11-31460705-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=31460705&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 31460705,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_144981.3",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMMP1L",
"gene_hgnc_id": 26317,
"hgvs_c": "c.115C>A",
"hgvs_p": "p.Pro39Thr",
"transcript": "NM_001304274.2",
"protein_id": "NP_001291203.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 166,
"cds_start": 115,
"cds_end": null,
"cds_length": 501,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000532287.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001304274.2"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMMP1L",
"gene_hgnc_id": 26317,
"hgvs_c": "c.115C>A",
"hgvs_p": "p.Pro39Thr",
"transcript": "ENST00000532287.6",
"protein_id": "ENSP00000435576.1",
"transcript_support_level": 1,
"aa_start": 39,
"aa_end": null,
"aa_length": 166,
"cds_start": 115,
"cds_end": null,
"cds_length": 501,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001304274.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000532287.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMMP1L",
"gene_hgnc_id": 26317,
"hgvs_c": "n.231C>A",
"hgvs_p": null,
"transcript": "ENST00000532624.5",
"protein_id": null,
"transcript_support_level": 1,
"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": "pseudogene",
"feature": "ENST00000532624.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "IMMP1L",
"gene_hgnc_id": 26317,
"hgvs_c": "n.46-4319C>A",
"hgvs_p": null,
"transcript": "ENST00000528161.5",
"protein_id": null,
"transcript_support_level": 1,
"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": "pseudogene",
"feature": "ENST00000528161.5"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMMP1L",
"gene_hgnc_id": 26317,
"hgvs_c": "c.115C>A",
"hgvs_p": "p.Pro39Thr",
"transcript": "NM_144981.3",
"protein_id": "NP_659418.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 166,
"cds_start": 115,
"cds_end": null,
"cds_length": 501,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_144981.3"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMMP1L",
"gene_hgnc_id": 26317,
"hgvs_c": "c.115C>A",
"hgvs_p": "p.Pro39Thr",
"transcript": "ENST00000278200.5",
"protein_id": "ENSP00000278200.1",
"transcript_support_level": 2,
"aa_start": 39,
"aa_end": null,
"aa_length": 166,
"cds_start": 115,
"cds_end": null,
"cds_length": 501,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000278200.5"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMMP1L",
"gene_hgnc_id": 26317,
"hgvs_c": "c.115C>A",
"hgvs_p": "p.Pro39Thr",
"transcript": "ENST00000873558.1",
"protein_id": "ENSP00000543617.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 166,
"cds_start": 115,
"cds_end": null,
"cds_length": 501,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873558.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMMP1L",
"gene_hgnc_id": 26317,
"hgvs_c": "c.115C>A",
"hgvs_p": "p.Pro39Thr",
"transcript": "ENST00000873559.1",
"protein_id": "ENSP00000543618.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 166,
"cds_start": 115,
"cds_end": null,
"cds_length": 501,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873559.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMMP1L",
"gene_hgnc_id": 26317,
"hgvs_c": "c.115C>A",
"hgvs_p": "p.Pro39Thr",
"transcript": "ENST00000873560.1",
"protein_id": "ENSP00000543619.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 166,
"cds_start": 115,
"cds_end": null,
"cds_length": 501,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873560.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMMP1L",
"gene_hgnc_id": 26317,
"hgvs_c": "c.115C>A",
"hgvs_p": "p.Pro39Thr",
"transcript": "ENST00000873561.1",
"protein_id": "ENSP00000543620.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 166,
"cds_start": 115,
"cds_end": null,
"cds_length": 501,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873561.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMMP1L",
"gene_hgnc_id": 26317,
"hgvs_c": "c.115C>A",
"hgvs_p": "p.Pro39Thr",
"transcript": "ENST00000873563.1",
"protein_id": "ENSP00000543622.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 166,
"cds_start": 115,
"cds_end": null,
"cds_length": 501,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873563.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMMP1L",
"gene_hgnc_id": 26317,
"hgvs_c": "c.115C>A",
"hgvs_p": "p.Pro39Thr",
"transcript": "ENST00000873564.1",
"protein_id": "ENSP00000543623.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 166,
"cds_start": 115,
"cds_end": null,
"cds_length": 501,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873564.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMMP1L",
"gene_hgnc_id": 26317,
"hgvs_c": "c.115C>A",
"hgvs_p": "p.Pro39Thr",
"transcript": "ENST00000873565.1",
"protein_id": "ENSP00000543624.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 166,
"cds_start": 115,
"cds_end": null,
"cds_length": 501,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873565.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMMP1L",
"gene_hgnc_id": 26317,
"hgvs_c": "c.115C>A",
"hgvs_p": "p.Pro39Thr",
"transcript": "ENST00000922651.1",
"protein_id": "ENSP00000592710.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 166,
"cds_start": 115,
"cds_end": null,
"cds_length": 501,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922651.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMMP1L",
"gene_hgnc_id": 26317,
"hgvs_c": "c.115C>A",
"hgvs_p": "p.Pro39Thr",
"transcript": "ENST00000946558.1",
"protein_id": "ENSP00000616617.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 166,
"cds_start": 115,
"cds_end": null,
"cds_length": 501,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946558.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMMP1L",
"gene_hgnc_id": 26317,
"hgvs_c": "c.115C>A",
"hgvs_p": "p.Pro39Thr",
"transcript": "ENST00000529749.5",
"protein_id": "ENSP00000432001.1",
"transcript_support_level": 3,
"aa_start": 39,
"aa_end": null,
"aa_length": 106,
"cds_start": 115,
"cds_end": null,
"cds_length": 321,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000529749.5"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMMP1L",
"gene_hgnc_id": 26317,
"hgvs_c": "c.115C>A",
"hgvs_p": "p.Pro39Thr",
"transcript": "ENST00000530023.5",
"protein_id": "ENSP00000432792.1",
"transcript_support_level": 3,
"aa_start": 39,
"aa_end": null,
"aa_length": 95,
"cds_start": 115,
"cds_end": null,
"cds_length": 288,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000530023.5"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMMP1L",
"gene_hgnc_id": 26317,
"hgvs_c": "c.115C>A",
"hgvs_p": "p.Pro39Thr",
"transcript": "XM_005252812.4",
"protein_id": "XP_005252869.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 166,
"cds_start": 115,
"cds_end": null,
"cds_length": 501,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005252812.4"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMMP1L",
"gene_hgnc_id": 26317,
"hgvs_c": "c.115C>A",
"hgvs_p": "p.Pro39Thr",
"transcript": "XM_011519942.2",
"protein_id": "XP_011518244.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 166,
"cds_start": 115,
"cds_end": null,
"cds_length": 501,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011519942.2"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMMP1L",
"gene_hgnc_id": 26317,
"hgvs_c": "c.115C>A",
"hgvs_p": "p.Pro39Thr",
"transcript": "XM_011519943.3",
"protein_id": "XP_011518245.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 166,
"cds_start": 115,
"cds_end": null,
"cds_length": 501,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011519943.3"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMMP1L",
"gene_hgnc_id": 26317,
"hgvs_c": "c.115C>A",
"hgvs_p": "p.Pro39Thr",
"transcript": "XM_011519945.3",
"protein_id": "XP_011518247.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 166,
"cds_start": 115,
"cds_end": null,
"cds_length": 501,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011519945.3"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMMP1L",
"gene_hgnc_id": 26317,
"hgvs_c": "c.115C>A",
"hgvs_p": "p.Pro39Thr",
"transcript": "XM_011519946.3",
"protein_id": "XP_011518248.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 166,
"cds_start": 115,
"cds_end": null,
"cds_length": 501,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011519946.3"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMMP1L",
"gene_hgnc_id": 26317,
"hgvs_c": "c.115C>A",
"hgvs_p": "p.Pro39Thr",
"transcript": "XM_011519947.3",
"protein_id": "XP_011518249.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 166,
"cds_start": 115,
"cds_end": null,
"cds_length": 501,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011519947.3"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMMP1L",
"gene_hgnc_id": 26317,
"hgvs_c": "c.115C>A",
"hgvs_p": "p.Pro39Thr",
"transcript": "XM_017017305.2",
"protein_id": "XP_016872794.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 166,
"cds_start": 115,
"cds_end": null,
"cds_length": 501,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017017305.2"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMMP1L",
"gene_hgnc_id": 26317,
"hgvs_c": "c.115C>A",
"hgvs_p": "p.Pro39Thr",
"transcript": "XM_047426520.1",
"protein_id": "XP_047282476.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 166,
"cds_start": 115,
"cds_end": null,
"cds_length": 501,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047426520.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMMP1L",
"gene_hgnc_id": 26317,
"hgvs_c": "c.115C>A",
"hgvs_p": "p.Pro39Thr",
"transcript": "XM_047426521.1",
"protein_id": "XP_047282477.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 166,
"cds_start": 115,
"cds_end": null,
"cds_length": 501,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047426521.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "IMMP1L",
"gene_hgnc_id": 26317,
"hgvs_c": "c.105+2467C>A",
"hgvs_p": null,
"transcript": "ENST00000526776.5",
"protein_id": "ENSP00000434280.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 94,
"cds_start": null,
"cds_end": null,
"cds_length": 285,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000526776.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "IMMP1L",
"gene_hgnc_id": 26317,
"hgvs_c": "c.105+2467C>A",
"hgvs_p": null,
"transcript": "ENST00000873562.1",
"protein_id": "ENSP00000543621.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 94,
"cds_start": null,
"cds_end": null,
"cds_length": 285,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873562.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "IMMP1L",
"gene_hgnc_id": 26317,
"hgvs_c": "c.105+2467C>A",
"hgvs_p": null,
"transcript": "ENST00000922648.1",
"protein_id": "ENSP00000592707.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 94,
"cds_start": null,
"cds_end": null,
"cds_length": 285,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922648.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "IMMP1L",
"gene_hgnc_id": 26317,
"hgvs_c": "c.105+2467C>A",
"hgvs_p": null,
"transcript": "ENST00000922649.1",
"protein_id": "ENSP00000592708.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 94,
"cds_start": null,
"cds_end": null,
"cds_length": 285,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922649.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "IMMP1L",
"gene_hgnc_id": 26317,
"hgvs_c": "c.105+2467C>A",
"hgvs_p": null,
"transcript": "ENST00000922650.1",
"protein_id": "ENSP00000592709.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 94,
"cds_start": null,
"cds_end": null,
"cds_length": 285,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922650.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "IMMP1L",
"gene_hgnc_id": 26317,
"hgvs_c": "c.105+2467C>A",
"hgvs_p": null,
"transcript": "ENST00000922652.1",
"protein_id": "ENSP00000592711.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 94,
"cds_start": null,
"cds_end": null,
"cds_length": 285,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922652.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "IMMP1L",
"gene_hgnc_id": 26317,
"hgvs_c": "c.-6-27135C>A",
"hgvs_p": null,
"transcript": "ENST00000533642.1",
"protein_id": "ENSP00000432471.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 57,
"cds_start": null,
"cds_end": null,
"cds_length": 174,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000533642.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "IMMP1L",
"gene_hgnc_id": 26317,
"hgvs_c": "c.-7+16796C>A",
"hgvs_p": null,
"transcript": "ENST00000534812.5",
"protein_id": "ENSP00000432673.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 57,
"cds_start": null,
"cds_end": null,
"cds_length": 174,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000534812.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "IMMP1L",
"gene_hgnc_id": 26317,
"hgvs_c": "c.87-4319C>A",
"hgvs_p": null,
"transcript": "XM_017017306.2",
"protein_id": "XP_016872795.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 130,
"cds_start": null,
"cds_end": null,
"cds_length": 393,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017017306.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMMP1L",
"gene_hgnc_id": 26317,
"hgvs_c": "n.218C>A",
"hgvs_p": null,
"transcript": "ENST00000527184.5",
"protein_id": null,
"transcript_support_level": 3,
"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": "pseudogene",
"feature": "ENST00000527184.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMMP1L",
"gene_hgnc_id": 26317,
"hgvs_c": "n.115C>A",
"hgvs_p": null,
"transcript": "ENST00000648582.1",
"protein_id": "ENSP00000497019.1",
"transcript_support_level": null,
"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": "ENST00000648582.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMMP1L",
"gene_hgnc_id": 26317,
"hgvs_c": "n.248C>A",
"hgvs_p": null,
"transcript": "XR_242781.4",
"protein_id": null,
"transcript_support_level": null,
"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": "pseudogene",
"feature": "XR_242781.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "IMMP1L",
"gene_hgnc_id": 26317,
"hgvs_c": "n.363+2467C>A",
"hgvs_p": null,
"transcript": "ENST00000531693.1",
"protein_id": null,
"transcript_support_level": 2,
"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": "pseudogene",
"feature": "ENST00000531693.1"
}
],
"gene_symbol": "IMMP1L",
"gene_hgnc_id": 26317,
"dbsnp": "rs1954109437",
"frequency_reference_population": 0.0000018794425,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 6.92405e-7,
"gnomad_genomes_af": 0.00001316,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6945030689239502,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.332,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.6164,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.1,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 8.616,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.01,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_144981.3",
"gene_symbol": "IMMP1L",
"hgnc_id": 26317,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.115C>A",
"hgvs_p": "p.Pro39Thr"
}
],
"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
}