← 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: 20-63282841-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=63282841&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 63282841,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_175609.3",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARFGAP1",
"gene_hgnc_id": 15852,
"hgvs_c": "c.707C>A",
"hgvs_p": "p.Ala236Glu",
"transcript": "NM_018209.4",
"protein_id": "NP_060679.1",
"transcript_support_level": null,
"aa_start": 236,
"aa_end": null,
"aa_length": 406,
"cds_start": 707,
"cds_end": null,
"cds_length": 1221,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000370283.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018209.4"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARFGAP1",
"gene_hgnc_id": 15852,
"hgvs_c": "c.707C>A",
"hgvs_p": "p.Ala236Glu",
"transcript": "ENST00000370283.9",
"protein_id": "ENSP00000359306.4",
"transcript_support_level": 1,
"aa_start": 236,
"aa_end": null,
"aa_length": 406,
"cds_start": 707,
"cds_end": null,
"cds_length": 1221,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_018209.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000370283.9"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARFGAP1",
"gene_hgnc_id": 15852,
"hgvs_c": "c.707C>A",
"hgvs_p": "p.Ala236Glu",
"transcript": "ENST00000353546.7",
"protein_id": "ENSP00000314615.3",
"transcript_support_level": 1,
"aa_start": 236,
"aa_end": null,
"aa_length": 414,
"cds_start": 707,
"cds_end": null,
"cds_length": 1245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000353546.7"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARFGAP1",
"gene_hgnc_id": 15852,
"hgvs_c": "c.707C>A",
"hgvs_p": "p.Ala236Glu",
"transcript": "ENST00000370275.8",
"protein_id": "ENSP00000359298.4",
"transcript_support_level": 1,
"aa_start": 236,
"aa_end": null,
"aa_length": 403,
"cds_start": 707,
"cds_end": null,
"cds_length": 1212,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000370275.8"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARFGAP1",
"gene_hgnc_id": 15852,
"hgvs_c": "c.707C>A",
"hgvs_p": "p.Ala236Glu",
"transcript": "ENST00000946863.1",
"protein_id": "ENSP00000616922.1",
"transcript_support_level": null,
"aa_start": 236,
"aa_end": null,
"aa_length": 459,
"cds_start": 707,
"cds_end": null,
"cds_length": 1380,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946863.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARFGAP1",
"gene_hgnc_id": 15852,
"hgvs_c": "c.824C>A",
"hgvs_p": "p.Ala275Glu",
"transcript": "ENST00000906865.1",
"protein_id": "ENSP00000576924.1",
"transcript_support_level": null,
"aa_start": 275,
"aa_end": null,
"aa_length": 445,
"cds_start": 824,
"cds_end": null,
"cds_length": 1338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906865.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARFGAP1",
"gene_hgnc_id": 15852,
"hgvs_c": "c.824C>A",
"hgvs_p": "p.Ala275Glu",
"transcript": "ENST00000906867.1",
"protein_id": "ENSP00000576926.1",
"transcript_support_level": null,
"aa_start": 275,
"aa_end": null,
"aa_length": 445,
"cds_start": 824,
"cds_end": null,
"cds_length": 1338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906867.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARFGAP1",
"gene_hgnc_id": 15852,
"hgvs_c": "c.794C>A",
"hgvs_p": "p.Ala265Glu",
"transcript": "ENST00000906860.1",
"protein_id": "ENSP00000576919.1",
"transcript_support_level": null,
"aa_start": 265,
"aa_end": null,
"aa_length": 435,
"cds_start": 794,
"cds_end": null,
"cds_length": 1308,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906860.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARFGAP1",
"gene_hgnc_id": 15852,
"hgvs_c": "c.794C>A",
"hgvs_p": "p.Ala265Glu",
"transcript": "ENST00000940139.1",
"protein_id": "ENSP00000610198.1",
"transcript_support_level": null,
"aa_start": 265,
"aa_end": null,
"aa_length": 433,
"cds_start": 794,
"cds_end": null,
"cds_length": 1302,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940139.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARFGAP1",
"gene_hgnc_id": 15852,
"hgvs_c": "c.707C>A",
"hgvs_p": "p.Ala236Glu",
"transcript": "ENST00000906866.1",
"protein_id": "ENSP00000576925.1",
"transcript_support_level": null,
"aa_start": 236,
"aa_end": null,
"aa_length": 417,
"cds_start": 707,
"cds_end": null,
"cds_length": 1254,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906866.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARFGAP1",
"gene_hgnc_id": 15852,
"hgvs_c": "c.707C>A",
"hgvs_p": "p.Ala236Glu",
"transcript": "ENST00000906868.1",
"protein_id": "ENSP00000576927.1",
"transcript_support_level": null,
"aa_start": 236,
"aa_end": null,
"aa_length": 416,
"cds_start": 707,
"cds_end": null,
"cds_length": 1251,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906868.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARFGAP1",
"gene_hgnc_id": 15852,
"hgvs_c": "c.707C>A",
"hgvs_p": "p.Ala236Glu",
"transcript": "NM_175609.3",
"protein_id": "NP_783202.1",
"transcript_support_level": null,
"aa_start": 236,
"aa_end": null,
"aa_length": 414,
"cds_start": 707,
"cds_end": null,
"cds_length": 1245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_175609.3"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARFGAP1",
"gene_hgnc_id": 15852,
"hgvs_c": "c.707C>A",
"hgvs_p": "p.Ala236Glu",
"transcript": "ENST00000906863.1",
"protein_id": "ENSP00000576922.1",
"transcript_support_level": null,
"aa_start": 236,
"aa_end": null,
"aa_length": 406,
"cds_start": 707,
"cds_end": null,
"cds_length": 1221,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906863.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARFGAP1",
"gene_hgnc_id": 15852,
"hgvs_c": "c.707C>A",
"hgvs_p": "p.Ala236Glu",
"transcript": "ENST00000906869.1",
"protein_id": "ENSP00000576928.1",
"transcript_support_level": null,
"aa_start": 236,
"aa_end": null,
"aa_length": 406,
"cds_start": 707,
"cds_end": null,
"cds_length": 1221,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906869.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARFGAP1",
"gene_hgnc_id": 15852,
"hgvs_c": "c.707C>A",
"hgvs_p": "p.Ala236Glu",
"transcript": "ENST00000940141.1",
"protein_id": "ENSP00000610200.1",
"transcript_support_level": null,
"aa_start": 236,
"aa_end": null,
"aa_length": 406,
"cds_start": 707,
"cds_end": null,
"cds_length": 1221,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940141.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARFGAP1",
"gene_hgnc_id": 15852,
"hgvs_c": "c.707C>A",
"hgvs_p": "p.Ala236Glu",
"transcript": "ENST00000940142.1",
"protein_id": "ENSP00000610201.1",
"transcript_support_level": null,
"aa_start": 236,
"aa_end": null,
"aa_length": 406,
"cds_start": 707,
"cds_end": null,
"cds_length": 1221,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940142.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARFGAP1",
"gene_hgnc_id": 15852,
"hgvs_c": "c.707C>A",
"hgvs_p": "p.Ala236Glu",
"transcript": "NM_001281482.2",
"protein_id": "NP_001268411.1",
"transcript_support_level": null,
"aa_start": 236,
"aa_end": null,
"aa_length": 403,
"cds_start": 707,
"cds_end": null,
"cds_length": 1212,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001281482.2"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARFGAP1",
"gene_hgnc_id": 15852,
"hgvs_c": "c.707C>A",
"hgvs_p": "p.Ala236Glu",
"transcript": "ENST00000906861.1",
"protein_id": "ENSP00000576920.1",
"transcript_support_level": null,
"aa_start": 236,
"aa_end": null,
"aa_length": 394,
"cds_start": 707,
"cds_end": null,
"cds_length": 1185,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906861.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARFGAP1",
"gene_hgnc_id": 15852,
"hgvs_c": "c.707C>A",
"hgvs_p": "p.Ala236Glu",
"transcript": "ENST00000940140.1",
"protein_id": "ENSP00000610199.1",
"transcript_support_level": null,
"aa_start": 236,
"aa_end": null,
"aa_length": 386,
"cds_start": 707,
"cds_end": null,
"cds_length": 1161,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940140.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARFGAP1",
"gene_hgnc_id": 15852,
"hgvs_c": "c.707C>A",
"hgvs_p": "p.Ala236Glu",
"transcript": "ENST00000940138.1",
"protein_id": "ENSP00000610197.1",
"transcript_support_level": null,
"aa_start": 236,
"aa_end": null,
"aa_length": 367,
"cds_start": 707,
"cds_end": null,
"cds_length": 1104,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940138.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARFGAP1",
"gene_hgnc_id": 15852,
"hgvs_c": "c.548C>A",
"hgvs_p": "p.Ala183Glu",
"transcript": "NM_001281483.2",
"protein_id": "NP_001268412.1",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 361,
"cds_start": 548,
"cds_end": null,
"cds_length": 1086,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001281483.2"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARFGAP1",
"gene_hgnc_id": 15852,
"hgvs_c": "c.548C>A",
"hgvs_p": "p.Ala183Glu",
"transcript": "ENST00000519604.5",
"protein_id": "ENSP00000430500.1",
"transcript_support_level": 2,
"aa_start": 183,
"aa_end": null,
"aa_length": 361,
"cds_start": 548,
"cds_end": null,
"cds_length": 1086,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000519604.5"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARFGAP1",
"gene_hgnc_id": 15852,
"hgvs_c": "c.485C>A",
"hgvs_p": "p.Ala162Glu",
"transcript": "ENST00000547204.5",
"protein_id": "ENSP00000449800.1",
"transcript_support_level": 2,
"aa_start": 162,
"aa_end": null,
"aa_length": 340,
"cds_start": 485,
"cds_end": null,
"cds_length": 1023,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000547204.5"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARFGAP1",
"gene_hgnc_id": 15852,
"hgvs_c": "c.434C>A",
"hgvs_p": "p.Ala145Glu",
"transcript": "ENST00000906864.1",
"protein_id": "ENSP00000576923.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 315,
"cds_start": 434,
"cds_end": null,
"cds_length": 948,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906864.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARFGAP1",
"gene_hgnc_id": 15852,
"hgvs_c": "c.368C>A",
"hgvs_p": "p.Ala123Glu",
"transcript": "NM_001281484.2",
"protein_id": "NP_001268413.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 293,
"cds_start": 368,
"cds_end": null,
"cds_length": 882,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001281484.2"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARFGAP1",
"gene_hgnc_id": 15852,
"hgvs_c": "c.368C>A",
"hgvs_p": "p.Ala123Glu",
"transcript": "ENST00000519273.6",
"protein_id": "ENSP00000443716.1",
"transcript_support_level": 2,
"aa_start": 123,
"aa_end": null,
"aa_length": 293,
"cds_start": 368,
"cds_end": null,
"cds_length": 882,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000519273.6"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARFGAP1",
"gene_hgnc_id": 15852,
"hgvs_c": "c.485C>A",
"hgvs_p": "p.Ala162Glu",
"transcript": "ENST00000549047.5",
"protein_id": "ENSP00000447037.1",
"transcript_support_level": 5,
"aa_start": 162,
"aa_end": null,
"aa_length": 270,
"cds_start": 485,
"cds_end": null,
"cds_length": 814,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000549047.5"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARFGAP1",
"gene_hgnc_id": 15852,
"hgvs_c": "c.707C>A",
"hgvs_p": "p.Ala236Glu",
"transcript": "ENST00000522403.6",
"protein_id": "ENSP00000430929.2",
"transcript_support_level": 5,
"aa_start": 236,
"aa_end": null,
"aa_length": 260,
"cds_start": 707,
"cds_end": null,
"cds_length": 784,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000522403.6"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARFGAP1",
"gene_hgnc_id": 15852,
"hgvs_c": "c.572C>A",
"hgvs_p": "p.Ala191Glu",
"transcript": "ENST00000518601.6",
"protein_id": "ENSP00000429674.2",
"transcript_support_level": 5,
"aa_start": 191,
"aa_end": null,
"aa_length": 243,
"cds_start": 572,
"cds_end": null,
"cds_length": 732,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000518601.6"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARFGAP1",
"gene_hgnc_id": 15852,
"hgvs_c": "c.707C>A",
"hgvs_p": "p.Ala236Glu",
"transcript": "XM_011528901.2",
"protein_id": "XP_011527203.1",
"transcript_support_level": null,
"aa_start": 236,
"aa_end": null,
"aa_length": 416,
"cds_start": 707,
"cds_end": null,
"cds_length": 1251,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011528901.2"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARFGAP1",
"gene_hgnc_id": 15852,
"hgvs_c": "c.707C>A",
"hgvs_p": "p.Ala236Glu",
"transcript": "XM_017027950.2",
"protein_id": "XP_016883439.1",
"transcript_support_level": null,
"aa_start": 236,
"aa_end": null,
"aa_length": 416,
"cds_start": 707,
"cds_end": null,
"cds_length": 1251,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017027950.2"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARFGAP1",
"gene_hgnc_id": 15852,
"hgvs_c": "c.707C>A",
"hgvs_p": "p.Ala236Glu",
"transcript": "XM_047440287.1",
"protein_id": "XP_047296243.1",
"transcript_support_level": null,
"aa_start": 236,
"aa_end": null,
"aa_length": 406,
"cds_start": 707,
"cds_end": null,
"cds_length": 1221,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047440287.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARFGAP1",
"gene_hgnc_id": 15852,
"hgvs_c": "c.707C>A",
"hgvs_p": "p.Ala236Glu",
"transcript": "XM_006723823.3",
"protein_id": "XP_006723886.1",
"transcript_support_level": null,
"aa_start": 236,
"aa_end": null,
"aa_length": 404,
"cds_start": 707,
"cds_end": null,
"cds_length": 1215,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006723823.3"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARFGAP1",
"gene_hgnc_id": 15852,
"hgvs_c": "c.707C>A",
"hgvs_p": "p.Ala236Glu",
"transcript": "XM_047440288.1",
"protein_id": "XP_047296244.1",
"transcript_support_level": null,
"aa_start": 236,
"aa_end": null,
"aa_length": 404,
"cds_start": 707,
"cds_end": null,
"cds_length": 1215,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047440288.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARFGAP1",
"gene_hgnc_id": 15852,
"hgvs_c": "c.918C>A",
"hgvs_p": "p.Ser306Arg",
"transcript": "XM_047440289.1",
"protein_id": "XP_047296245.1",
"transcript_support_level": null,
"aa_start": 306,
"aa_end": null,
"aa_length": 345,
"cds_start": 918,
"cds_end": null,
"cds_length": 1038,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047440289.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARFGAP1",
"gene_hgnc_id": 15852,
"hgvs_c": "c.918C>A",
"hgvs_p": "p.Ser306Arg",
"transcript": "XM_047440290.1",
"protein_id": "XP_047296246.1",
"transcript_support_level": null,
"aa_start": 306,
"aa_end": null,
"aa_length": 345,
"cds_start": 918,
"cds_end": null,
"cds_length": 1038,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047440290.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARFGAP1",
"gene_hgnc_id": 15852,
"hgvs_c": "c.918C>A",
"hgvs_p": "p.Ser306Arg",
"transcript": "XM_047440291.1",
"protein_id": "XP_047296247.1",
"transcript_support_level": null,
"aa_start": 306,
"aa_end": null,
"aa_length": 335,
"cds_start": 918,
"cds_end": null,
"cds_length": 1008,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047440291.1"
},
{
"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": 13,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "ARFGAP1",
"gene_hgnc_id": 15852,
"hgvs_c": "c.801+1494C>A",
"hgvs_p": null,
"transcript": "ENST00000946862.1",
"protein_id": "ENSP00000616921.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 434,
"cds_start": null,
"cds_end": null,
"cds_length": 1305,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946862.1"
},
{
"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": 12,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "ARFGAP1",
"gene_hgnc_id": 15852,
"hgvs_c": "c.684+1494C>A",
"hgvs_p": null,
"transcript": "ENST00000906862.1",
"protein_id": "ENSP00000576921.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 395,
"cds_start": null,
"cds_end": null,
"cds_length": 1188,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906862.1"
},
{
"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": 12,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "ARFGAP1",
"gene_hgnc_id": 15852,
"hgvs_c": "c.684+1494C>A",
"hgvs_p": null,
"transcript": "ENST00000940137.1",
"protein_id": "ENSP00000610196.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 393,
"cds_start": null,
"cds_end": null,
"cds_length": 1182,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940137.1"
},
{
"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": 8,
"intron_rank_end": null,
"gene_symbol": "ARFGAP1",
"gene_hgnc_id": 15852,
"hgvs_c": "c.684+1494C>A",
"hgvs_p": null,
"transcript": "ENST00000940143.1",
"protein_id": "ENSP00000610202.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 356,
"cds_start": null,
"cds_end": null,
"cds_length": 1071,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940143.1"
},
{
"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": "ARFGAP1",
"gene_hgnc_id": 15852,
"hgvs_c": "c.43-2813C>A",
"hgvs_p": null,
"transcript": "ENST00000523460.5",
"protein_id": "ENSP00000429770.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 152,
"cds_start": null,
"cds_end": null,
"cds_length": 460,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000523460.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARFGAP1",
"gene_hgnc_id": 15852,
"hgvs_c": "n.803C>A",
"hgvs_p": null,
"transcript": "ENST00000519531.5",
"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": "retained_intron",
"feature": "ENST00000519531.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARFGAP1",
"gene_hgnc_id": 15852,
"hgvs_c": "n.*213C>A",
"hgvs_p": null,
"transcript": "ENST00000520485.5",
"protein_id": "ENSP00000427717.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000520485.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARFGAP1",
"gene_hgnc_id": 15852,
"hgvs_c": "n.819C>A",
"hgvs_p": null,
"transcript": "XR_001754329.2",
"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_001754329.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARFGAP1",
"gene_hgnc_id": 15852,
"hgvs_c": "n.819C>A",
"hgvs_p": null,
"transcript": "XR_007067465.1",
"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_007067465.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARFGAP1",
"gene_hgnc_id": 15852,
"hgvs_c": "n.838C>A",
"hgvs_p": null,
"transcript": "XR_007067466.1",
"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_007067466.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARFGAP1",
"gene_hgnc_id": 15852,
"hgvs_c": "n.819C>A",
"hgvs_p": null,
"transcript": "XR_007067467.1",
"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_007067467.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARFGAP1",
"gene_hgnc_id": 15852,
"hgvs_c": "n.*213C>A",
"hgvs_p": null,
"transcript": "ENST00000520485.5",
"protein_id": "ENSP00000427717.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000520485.5"
}
],
"gene_symbol": "ARFGAP1",
"gene_hgnc_id": 15852,
"dbsnp": "rs371754239",
"frequency_reference_population": 0.000048948536,
"hom_count_reference_population": 0,
"allele_count_reference_population": 79,
"gnomad_exomes_af": 0.0000519938,
"gnomad_genomes_af": 0.0000197075,
"gnomad_exomes_ac": 76,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5395200252532959,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.326,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9865,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.2,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 5.388,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.03,
"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_175609.3",
"gene_symbol": "ARFGAP1",
"hgnc_id": 15852,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.707C>A",
"hgvs_p": "p.Ala236Glu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}