← 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: 4-152870765-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=152870765&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 152870765,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001025595.3",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARFIP1",
"gene_hgnc_id": 21496,
"hgvs_c": "c.215C>T",
"hgvs_p": "p.Pro72Leu",
"transcript": "NM_001025595.3",
"protein_id": "NP_001020766.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 373,
"cds_start": 215,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000353617.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001025595.3"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARFIP1",
"gene_hgnc_id": 21496,
"hgvs_c": "c.215C>T",
"hgvs_p": "p.Pro72Leu",
"transcript": "ENST00000353617.7",
"protein_id": "ENSP00000296557.4",
"transcript_support_level": 5,
"aa_start": 72,
"aa_end": null,
"aa_length": 373,
"cds_start": 215,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001025595.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000353617.7"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARFIP1",
"gene_hgnc_id": 21496,
"hgvs_c": "c.215C>T",
"hgvs_p": "p.Pro72Leu",
"transcript": "ENST00000451320.6",
"protein_id": "ENSP00000395083.2",
"transcript_support_level": 1,
"aa_start": 72,
"aa_end": null,
"aa_length": 373,
"cds_start": 215,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000451320.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ARFIP1",
"gene_hgnc_id": 21496,
"hgvs_c": "c.203-1687C>T",
"hgvs_p": null,
"transcript": "ENST00000356064.3",
"protein_id": "ENSP00000348360.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 341,
"cds_start": null,
"cds_end": null,
"cds_length": 1026,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000356064.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ARFIP1",
"gene_hgnc_id": 21496,
"hgvs_c": "c.203-1687C>T",
"hgvs_p": null,
"transcript": "ENST00000405727.6",
"protein_id": "ENSP00000384189.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 341,
"cds_start": null,
"cds_end": null,
"cds_length": 1026,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000405727.6"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARFIP1",
"gene_hgnc_id": 21496,
"hgvs_c": "c.215C>T",
"hgvs_p": "p.Pro72Leu",
"transcript": "ENST00000891691.1",
"protein_id": "ENSP00000561750.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 390,
"cds_start": 215,
"cds_end": null,
"cds_length": 1173,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891691.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARFIP1",
"gene_hgnc_id": 21496,
"hgvs_c": "c.215C>T",
"hgvs_p": "p.Pro72Leu",
"transcript": "NM_001287431.2",
"protein_id": "NP_001274360.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 373,
"cds_start": 215,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001287431.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARFIP1",
"gene_hgnc_id": 21496,
"hgvs_c": "c.215C>T",
"hgvs_p": "p.Pro72Leu",
"transcript": "NM_001287432.2",
"protein_id": "NP_001274361.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 373,
"cds_start": 215,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001287432.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARFIP1",
"gene_hgnc_id": 21496,
"hgvs_c": "c.215C>T",
"hgvs_p": "p.Pro72Leu",
"transcript": "ENST00000891683.1",
"protein_id": "ENSP00000561742.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 373,
"cds_start": 215,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891683.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARFIP1",
"gene_hgnc_id": 21496,
"hgvs_c": "c.215C>T",
"hgvs_p": "p.Pro72Leu",
"transcript": "ENST00000891684.1",
"protein_id": "ENSP00000561743.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 373,
"cds_start": 215,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891684.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARFIP1",
"gene_hgnc_id": 21496,
"hgvs_c": "c.215C>T",
"hgvs_p": "p.Pro72Leu",
"transcript": "ENST00000891688.1",
"protein_id": "ENSP00000561747.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 373,
"cds_start": 215,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891688.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARFIP1",
"gene_hgnc_id": 21496,
"hgvs_c": "c.215C>T",
"hgvs_p": "p.Pro72Leu",
"transcript": "ENST00000891689.1",
"protein_id": "ENSP00000561748.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 373,
"cds_start": 215,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891689.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARFIP1",
"gene_hgnc_id": 21496,
"hgvs_c": "c.215C>T",
"hgvs_p": "p.Pro72Leu",
"transcript": "ENST00000891692.1",
"protein_id": "ENSP00000561751.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 373,
"cds_start": 215,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891692.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARFIP1",
"gene_hgnc_id": 21496,
"hgvs_c": "c.215C>T",
"hgvs_p": "p.Pro72Leu",
"transcript": "ENST00000891693.1",
"protein_id": "ENSP00000561752.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 373,
"cds_start": 215,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891693.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARFIP1",
"gene_hgnc_id": 21496,
"hgvs_c": "c.215C>T",
"hgvs_p": "p.Pro72Leu",
"transcript": "ENST00000891694.1",
"protein_id": "ENSP00000561753.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 373,
"cds_start": 215,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891694.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARFIP1",
"gene_hgnc_id": 21496,
"hgvs_c": "c.215C>T",
"hgvs_p": "p.Pro72Leu",
"transcript": "ENST00000891696.1",
"protein_id": "ENSP00000561755.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 373,
"cds_start": 215,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891696.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARFIP1",
"gene_hgnc_id": 21496,
"hgvs_c": "c.215C>T",
"hgvs_p": "p.Pro72Leu",
"transcript": "ENST00000891699.1",
"protein_id": "ENSP00000561758.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 373,
"cds_start": 215,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891699.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARFIP1",
"gene_hgnc_id": 21496,
"hgvs_c": "c.215C>T",
"hgvs_p": "p.Pro72Leu",
"transcript": "ENST00000891700.1",
"protein_id": "ENSP00000561759.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 373,
"cds_start": 215,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891700.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARFIP1",
"gene_hgnc_id": 21496,
"hgvs_c": "c.215C>T",
"hgvs_p": "p.Pro72Leu",
"transcript": "ENST00000891701.1",
"protein_id": "ENSP00000561760.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 373,
"cds_start": 215,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891701.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARFIP1",
"gene_hgnc_id": 21496,
"hgvs_c": "c.215C>T",
"hgvs_p": "p.Pro72Leu",
"transcript": "ENST00000891702.1",
"protein_id": "ENSP00000561761.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 373,
"cds_start": 215,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891702.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARFIP1",
"gene_hgnc_id": 21496,
"hgvs_c": "c.215C>T",
"hgvs_p": "p.Pro72Leu",
"transcript": "ENST00000891703.1",
"protein_id": "ENSP00000561762.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 373,
"cds_start": 215,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891703.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARFIP1",
"gene_hgnc_id": 21496,
"hgvs_c": "c.215C>T",
"hgvs_p": "p.Pro72Leu",
"transcript": "ENST00000914065.1",
"protein_id": "ENSP00000584124.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 373,
"cds_start": 215,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914065.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARFIP1",
"gene_hgnc_id": 21496,
"hgvs_c": "c.215C>T",
"hgvs_p": "p.Pro72Leu",
"transcript": "ENST00000914070.1",
"protein_id": "ENSP00000584129.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 373,
"cds_start": 215,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914070.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARFIP1",
"gene_hgnc_id": 21496,
"hgvs_c": "c.215C>T",
"hgvs_p": "p.Pro72Leu",
"transcript": "ENST00000914075.1",
"protein_id": "ENSP00000584134.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 373,
"cds_start": 215,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914075.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARFIP1",
"gene_hgnc_id": 21496,
"hgvs_c": "c.215C>T",
"hgvs_p": "p.Pro72Leu",
"transcript": "ENST00000914077.1",
"protein_id": "ENSP00000584136.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 373,
"cds_start": 215,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914077.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARFIP1",
"gene_hgnc_id": 21496,
"hgvs_c": "c.215C>T",
"hgvs_p": "p.Pro72Leu",
"transcript": "ENST00000914078.1",
"protein_id": "ENSP00000584137.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 373,
"cds_start": 215,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914078.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARFIP1",
"gene_hgnc_id": 21496,
"hgvs_c": "c.215C>T",
"hgvs_p": "p.Pro72Leu",
"transcript": "ENST00000914079.1",
"protein_id": "ENSP00000584138.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 373,
"cds_start": 215,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914079.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARFIP1",
"gene_hgnc_id": 21496,
"hgvs_c": "c.215C>T",
"hgvs_p": "p.Pro72Leu",
"transcript": "ENST00000955261.1",
"protein_id": "ENSP00000625320.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 373,
"cds_start": 215,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955261.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARFIP1",
"gene_hgnc_id": 21496,
"hgvs_c": "c.215C>T",
"hgvs_p": "p.Pro72Leu",
"transcript": "ENST00000955263.1",
"protein_id": "ENSP00000625322.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 373,
"cds_start": 215,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955263.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARFIP1",
"gene_hgnc_id": 21496,
"hgvs_c": "c.215C>T",
"hgvs_p": "p.Pro72Leu",
"transcript": "ENST00000955264.1",
"protein_id": "ENSP00000625323.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 373,
"cds_start": 215,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955264.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARFIP1",
"gene_hgnc_id": 21496,
"hgvs_c": "c.215C>T",
"hgvs_p": "p.Pro72Leu",
"transcript": "ENST00000955260.1",
"protein_id": "ENSP00000625319.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 351,
"cds_start": 215,
"cds_end": null,
"cds_length": 1056,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955260.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARFIP1",
"gene_hgnc_id": 21496,
"hgvs_c": "c.215C>T",
"hgvs_p": "p.Pro72Leu",
"transcript": "ENST00000955262.1",
"protein_id": "ENSP00000625321.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 351,
"cds_start": 215,
"cds_end": null,
"cds_length": 1056,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955262.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ARFIP1",
"gene_hgnc_id": 21496,
"hgvs_c": "c.203-1687C>T",
"hgvs_p": null,
"transcript": "ENST00000891695.1",
"protein_id": "ENSP00000561754.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 359,
"cds_start": null,
"cds_end": null,
"cds_length": 1080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891695.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ARFIP1",
"gene_hgnc_id": 21496,
"hgvs_c": "c.203-1687C>T",
"hgvs_p": null,
"transcript": "NM_001025593.3",
"protein_id": "NP_001020764.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 341,
"cds_start": null,
"cds_end": null,
"cds_length": 1026,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001025593.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ARFIP1",
"gene_hgnc_id": 21496,
"hgvs_c": "c.203-1687C>T",
"hgvs_p": null,
"transcript": "NM_001287433.2",
"protein_id": "NP_001274362.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 341,
"cds_start": null,
"cds_end": null,
"cds_length": 1026,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001287433.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ARFIP1",
"gene_hgnc_id": 21496,
"hgvs_c": "c.203-1687C>T",
"hgvs_p": null,
"transcript": "NM_014447.4",
"protein_id": "NP_055262.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 341,
"cds_start": null,
"cds_end": null,
"cds_length": 1026,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014447.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ARFIP1",
"gene_hgnc_id": 21496,
"hgvs_c": "c.203-1687C>T",
"hgvs_p": null,
"transcript": "ENST00000891682.1",
"protein_id": "ENSP00000561741.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 341,
"cds_start": null,
"cds_end": null,
"cds_length": 1026,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891682.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ARFIP1",
"gene_hgnc_id": 21496,
"hgvs_c": "c.203-1687C>T",
"hgvs_p": null,
"transcript": "ENST00000891686.1",
"protein_id": "ENSP00000561745.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 341,
"cds_start": null,
"cds_end": null,
"cds_length": 1026,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891686.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ARFIP1",
"gene_hgnc_id": 21496,
"hgvs_c": "c.203-1687C>T",
"hgvs_p": null,
"transcript": "ENST00000891690.1",
"protein_id": "ENSP00000561749.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 341,
"cds_start": null,
"cds_end": null,
"cds_length": 1026,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891690.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ARFIP1",
"gene_hgnc_id": 21496,
"hgvs_c": "c.203-1687C>T",
"hgvs_p": null,
"transcript": "ENST00000891697.1",
"protein_id": "ENSP00000561756.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 341,
"cds_start": null,
"cds_end": null,
"cds_length": 1026,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891697.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ARFIP1",
"gene_hgnc_id": 21496,
"hgvs_c": "c.203-1687C>T",
"hgvs_p": null,
"transcript": "ENST00000891698.1",
"protein_id": "ENSP00000561757.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 341,
"cds_start": null,
"cds_end": null,
"cds_length": 1026,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891698.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ARFIP1",
"gene_hgnc_id": 21496,
"hgvs_c": "c.203-1687C>T",
"hgvs_p": null,
"transcript": "ENST00000914066.1",
"protein_id": "ENSP00000584125.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 341,
"cds_start": null,
"cds_end": null,
"cds_length": 1026,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914066.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ARFIP1",
"gene_hgnc_id": 21496,
"hgvs_c": "c.203-1687C>T",
"hgvs_p": null,
"transcript": "ENST00000914067.1",
"protein_id": "ENSP00000584126.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 341,
"cds_start": null,
"cds_end": null,
"cds_length": 1026,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914067.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ARFIP1",
"gene_hgnc_id": 21496,
"hgvs_c": "c.203-1687C>T",
"hgvs_p": null,
"transcript": "ENST00000914068.1",
"protein_id": "ENSP00000584127.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 341,
"cds_start": null,
"cds_end": null,
"cds_length": 1026,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914068.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ARFIP1",
"gene_hgnc_id": 21496,
"hgvs_c": "c.203-1687C>T",
"hgvs_p": null,
"transcript": "ENST00000914069.1",
"protein_id": "ENSP00000584128.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 341,
"cds_start": null,
"cds_end": null,
"cds_length": 1026,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914069.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ARFIP1",
"gene_hgnc_id": 21496,
"hgvs_c": "c.203-1687C>T",
"hgvs_p": null,
"transcript": "ENST00000914071.1",
"protein_id": "ENSP00000584130.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 341,
"cds_start": null,
"cds_end": null,
"cds_length": 1026,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914071.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ARFIP1",
"gene_hgnc_id": 21496,
"hgvs_c": "c.203-1687C>T",
"hgvs_p": null,
"transcript": "ENST00000914072.1",
"protein_id": "ENSP00000584131.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 341,
"cds_start": null,
"cds_end": null,
"cds_length": 1026,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914072.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ARFIP1",
"gene_hgnc_id": 21496,
"hgvs_c": "c.203-1687C>T",
"hgvs_p": null,
"transcript": "ENST00000914074.1",
"protein_id": "ENSP00000584133.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 341,
"cds_start": null,
"cds_end": null,
"cds_length": 1026,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914074.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ARFIP1",
"gene_hgnc_id": 21496,
"hgvs_c": "c.203-1687C>T",
"hgvs_p": null,
"transcript": "ENST00000914076.1",
"protein_id": "ENSP00000584135.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 341,
"cds_start": null,
"cds_end": null,
"cds_length": 1026,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914076.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ARFIP1",
"gene_hgnc_id": 21496,
"hgvs_c": "c.203-1687C>T",
"hgvs_p": null,
"transcript": "ENST00000955265.1",
"protein_id": "ENSP00000625324.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 341,
"cds_start": null,
"cds_end": null,
"cds_length": 1026,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955265.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ARFIP1",
"gene_hgnc_id": 21496,
"hgvs_c": "c.94-10198C>T",
"hgvs_p": null,
"transcript": "ENST00000891685.1",
"protein_id": "ENSP00000561744.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 267,
"cds_start": null,
"cds_end": null,
"cds_length": 804,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891685.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ARFIP1",
"gene_hgnc_id": 21496,
"hgvs_c": "c.94-11958C>T",
"hgvs_p": null,
"transcript": "ENST00000429148.6",
"protein_id": "ENSP00000396653.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 193,
"cds_start": null,
"cds_end": null,
"cds_length": 582,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000429148.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ARFIP1",
"gene_hgnc_id": 21496,
"hgvs_c": "c.203-1687C>T",
"hgvs_p": null,
"transcript": "ENST00000914080.1",
"protein_id": "ENSP00000584139.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 156,
"cds_start": null,
"cds_end": null,
"cds_length": 471,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914080.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ARFIP1",
"gene_hgnc_id": 21496,
"hgvs_c": "c.94-39299C>T",
"hgvs_p": null,
"transcript": "ENST00000891687.1",
"protein_id": "ENSP00000561746.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 82,
"cds_start": null,
"cds_end": null,
"cds_length": 249,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891687.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ARFIP1",
"gene_hgnc_id": 21496,
"hgvs_c": "c.94-39299C>T",
"hgvs_p": null,
"transcript": "ENST00000914073.1",
"protein_id": "ENSP00000584132.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 82,
"cds_start": null,
"cds_end": null,
"cds_length": 249,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914073.1"
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARFIP1",
"gene_hgnc_id": 21496,
"hgvs_c": "n.186C>T",
"hgvs_p": null,
"transcript": "ENST00000511289.5",
"protein_id": null,
"transcript_support_level": 4,
"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": "ENST00000511289.5"
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARFIP1",
"gene_hgnc_id": 21496,
"hgvs_c": "n.202C>T",
"hgvs_p": null,
"transcript": "ENST00000513361.1",
"protein_id": null,
"transcript_support_level": 4,
"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": "ENST00000513361.1"
}
],
"gene_symbol": "ARFIP1",
"gene_hgnc_id": 21496,
"dbsnp": "rs765850961",
"frequency_reference_population": 0.000022928758,
"hom_count_reference_population": 0,
"allele_count_reference_population": 37,
"gnomad_exomes_af": 0.0000225791,
"gnomad_genomes_af": 0.0000262874,
"gnomad_exomes_ac": 33,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.06444811820983887,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.14000000059604645,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.135,
"revel_prediction": "Benign",
"alphamissense_score": 0.0623,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.42,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.497,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.14,
"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": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_001025595.3",
"gene_symbol": "ARFIP1",
"hgnc_id": 21496,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.215C>T",
"hgvs_p": "p.Pro72Leu"
}
],
"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
}