← 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: X-101127253-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=101127253&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 101127253,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_006733.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CENPI",
"gene_hgnc_id": 3968,
"hgvs_c": "c.893G>A",
"hgvs_p": "p.Arg298His",
"transcript": "NM_001386188.2",
"protein_id": "NP_001373117.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 756,
"cds_start": 893,
"cds_end": null,
"cds_length": 2271,
"cdna_start": 1047,
"cdna_end": null,
"cdna_length": 5584,
"mane_select": "ENST00000682095.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001386188.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CENPI",
"gene_hgnc_id": 3968,
"hgvs_c": "c.893G>A",
"hgvs_p": "p.Arg298His",
"transcript": "ENST00000682095.1",
"protein_id": "ENSP00000507927.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 756,
"cds_start": 893,
"cds_end": null,
"cds_length": 2271,
"cdna_start": 1047,
"cdna_end": null,
"cdna_length": 5584,
"mane_select": "NM_001386188.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000682095.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CENPI",
"gene_hgnc_id": 3968,
"hgvs_c": "c.893G>A",
"hgvs_p": "p.Arg298His",
"transcript": "NM_006733.3",
"protein_id": "NP_006724.2",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 756,
"cds_start": 893,
"cds_end": null,
"cds_length": 2271,
"cdna_start": 1163,
"cdna_end": null,
"cdna_length": 3247,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006733.3"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CENPI",
"gene_hgnc_id": 3968,
"hgvs_c": "c.893G>A",
"hgvs_p": "p.Arg298His",
"transcript": "ENST00000372927.5",
"protein_id": "ENSP00000362018.1",
"transcript_support_level": 5,
"aa_start": 298,
"aa_end": null,
"aa_length": 756,
"cds_start": 893,
"cds_end": null,
"cds_length": 2271,
"cdna_start": 1170,
"cdna_end": null,
"cdna_length": 3262,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000372927.5"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CENPI",
"gene_hgnc_id": 3968,
"hgvs_c": "c.893G>A",
"hgvs_p": "p.Arg298His",
"transcript": "ENST00000684367.1",
"protein_id": "ENSP00000507595.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 756,
"cds_start": 893,
"cds_end": null,
"cds_length": 2271,
"cdna_start": 1171,
"cdna_end": null,
"cdna_length": 3377,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000684367.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CENPI",
"gene_hgnc_id": 3968,
"hgvs_c": "c.893G>A",
"hgvs_p": "p.Arg298His",
"transcript": "ENST00000907101.1",
"protein_id": "ENSP00000577160.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 756,
"cds_start": 893,
"cds_end": null,
"cds_length": 2271,
"cdna_start": 1070,
"cdna_end": null,
"cdna_length": 3166,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907101.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CENPI",
"gene_hgnc_id": 3968,
"hgvs_c": "c.893G>A",
"hgvs_p": "p.Arg298His",
"transcript": "ENST00000907102.1",
"protein_id": "ENSP00000577161.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 756,
"cds_start": 893,
"cds_end": null,
"cds_length": 2271,
"cdna_start": 1385,
"cdna_end": null,
"cdna_length": 3152,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907102.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CENPI",
"gene_hgnc_id": 3968,
"hgvs_c": "c.893G>A",
"hgvs_p": "p.Arg298His",
"transcript": "ENST00000933782.1",
"protein_id": "ENSP00000603841.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 756,
"cds_start": 893,
"cds_end": null,
"cds_length": 2271,
"cdna_start": 1275,
"cdna_end": null,
"cdna_length": 5804,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933782.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CENPI",
"gene_hgnc_id": 3968,
"hgvs_c": "c.893G>A",
"hgvs_p": "p.Arg298His",
"transcript": "NM_001318521.2",
"protein_id": "NP_001305450.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 742,
"cds_start": 893,
"cds_end": null,
"cds_length": 2229,
"cdna_start": 1047,
"cdna_end": null,
"cdna_length": 3094,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318521.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CENPI",
"gene_hgnc_id": 3968,
"hgvs_c": "c.893G>A",
"hgvs_p": "p.Arg298His",
"transcript": "ENST00000423383.3",
"protein_id": "ENSP00000399274.2",
"transcript_support_level": 5,
"aa_start": 298,
"aa_end": null,
"aa_length": 742,
"cds_start": 893,
"cds_end": null,
"cds_length": 2229,
"cdna_start": 1062,
"cdna_end": null,
"cdna_length": 2867,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000423383.3"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CENPI",
"gene_hgnc_id": 3968,
"hgvs_c": "c.893G>A",
"hgvs_p": "p.Arg298His",
"transcript": "ENST00000933783.1",
"protein_id": "ENSP00000603842.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 742,
"cds_start": 893,
"cds_end": null,
"cds_length": 2229,
"cdna_start": 1192,
"cdna_end": null,
"cdna_length": 5584,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933783.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CENPI",
"gene_hgnc_id": 3968,
"hgvs_c": "c.893G>A",
"hgvs_p": "p.Arg298His",
"transcript": "ENST00000933784.1",
"protein_id": "ENSP00000603843.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 742,
"cds_start": 893,
"cds_end": null,
"cds_length": 2229,
"cdna_start": 1068,
"cdna_end": null,
"cdna_length": 5460,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933784.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CENPI",
"gene_hgnc_id": 3968,
"hgvs_c": "c.893G>A",
"hgvs_p": "p.Arg298His",
"transcript": "NM_001318523.1",
"protein_id": "NP_001305452.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 522,
"cds_start": 893,
"cds_end": null,
"cds_length": 1569,
"cdna_start": 906,
"cdna_end": null,
"cdna_length": 2108,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318523.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CENPI",
"gene_hgnc_id": 3968,
"hgvs_c": "c.893G>A",
"hgvs_p": "p.Arg298His",
"transcript": "ENST00000372926.5",
"protein_id": "ENSP00000362017.1",
"transcript_support_level": 5,
"aa_start": 298,
"aa_end": null,
"aa_length": 522,
"cds_start": 893,
"cds_end": null,
"cds_length": 1569,
"cdna_start": 1170,
"cdna_end": null,
"cdna_length": 2375,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000372926.5"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CENPI",
"gene_hgnc_id": 3968,
"hgvs_c": "c.893G>A",
"hgvs_p": "p.Arg298His",
"transcript": "XM_005262111.3",
"protein_id": "XP_005262168.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 756,
"cds_start": 893,
"cds_end": null,
"cds_length": 2271,
"cdna_start": 1033,
"cdna_end": null,
"cdna_length": 5570,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005262111.3"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CENPI",
"gene_hgnc_id": 3968,
"hgvs_c": "c.893G>A",
"hgvs_p": "p.Arg298His",
"transcript": "XM_011530895.3",
"protein_id": "XP_011529197.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 756,
"cds_start": 893,
"cds_end": null,
"cds_length": 2271,
"cdna_start": 1304,
"cdna_end": null,
"cdna_length": 5841,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011530895.3"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CENPI",
"gene_hgnc_id": 3968,
"hgvs_c": "c.893G>A",
"hgvs_p": "p.Arg298His",
"transcript": "XM_047441947.1",
"protein_id": "XP_047297903.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 756,
"cds_start": 893,
"cds_end": null,
"cds_length": 2271,
"cdna_start": 1290,
"cdna_end": null,
"cdna_length": 5827,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047441947.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CENPI",
"gene_hgnc_id": 3968,
"hgvs_c": "c.893G>A",
"hgvs_p": "p.Arg298His",
"transcript": "XM_047441948.1",
"protein_id": "XP_047297904.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 756,
"cds_start": 893,
"cds_end": null,
"cds_length": 2271,
"cdna_start": 1369,
"cdna_end": null,
"cdna_length": 5906,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047441948.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CENPI",
"gene_hgnc_id": 3968,
"hgvs_c": "c.893G>A",
"hgvs_p": "p.Arg298His",
"transcript": "XM_047441949.1",
"protein_id": "XP_047297905.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 756,
"cds_start": 893,
"cds_end": null,
"cds_length": 2271,
"cdna_start": 1337,
"cdna_end": null,
"cdna_length": 5874,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047441949.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CENPI",
"gene_hgnc_id": 3968,
"hgvs_c": "c.893G>A",
"hgvs_p": "p.Arg298His",
"transcript": "XM_047441950.1",
"protein_id": "XP_047297906.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 756,
"cds_start": 893,
"cds_end": null,
"cds_length": 2271,
"cdna_start": 1351,
"cdna_end": null,
"cdna_length": 5888,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047441950.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CENPI",
"gene_hgnc_id": 3968,
"hgvs_c": "c.893G>A",
"hgvs_p": "p.Arg298His",
"transcript": "XM_047441951.1",
"protein_id": "XP_047297907.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 756,
"cds_start": 893,
"cds_end": null,
"cds_length": 2271,
"cdna_start": 1374,
"cdna_end": null,
"cdna_length": 5911,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047441951.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CENPI",
"gene_hgnc_id": 3968,
"hgvs_c": "c.893G>A",
"hgvs_p": "p.Arg298His",
"transcript": "XM_047441952.1",
"protein_id": "XP_047297908.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 742,
"cds_start": 893,
"cds_end": null,
"cds_length": 2229,
"cdna_start": 1290,
"cdna_end": null,
"cdna_length": 5785,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047441952.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CENPI",
"gene_hgnc_id": 3968,
"hgvs_c": "c.893G>A",
"hgvs_p": "p.Arg298His",
"transcript": "XM_047441953.1",
"protein_id": "XP_047297909.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 742,
"cds_start": 893,
"cds_end": null,
"cds_length": 2229,
"cdna_start": 1033,
"cdna_end": null,
"cdna_length": 5528,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047441953.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CENPI",
"gene_hgnc_id": 3968,
"hgvs_c": "c.893G>A",
"hgvs_p": "p.Arg298His",
"transcript": "XM_047441954.1",
"protein_id": "XP_047297910.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 742,
"cds_start": 893,
"cds_end": null,
"cds_length": 2229,
"cdna_start": 1369,
"cdna_end": null,
"cdna_length": 5864,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047441954.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CENPI",
"gene_hgnc_id": 3968,
"hgvs_c": "c.893G>A",
"hgvs_p": "p.Arg298His",
"transcript": "XM_047441955.1",
"protein_id": "XP_047297911.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 742,
"cds_start": 893,
"cds_end": null,
"cds_length": 2229,
"cdna_start": 1374,
"cdna_end": null,
"cdna_length": 5869,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047441955.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CENPI",
"gene_hgnc_id": 3968,
"hgvs_c": "c.893G>A",
"hgvs_p": "p.Arg298His",
"transcript": "XM_017029383.2",
"protein_id": "XP_016884872.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 704,
"cds_start": 893,
"cds_end": null,
"cds_length": 2115,
"cdna_start": 1047,
"cdna_end": null,
"cdna_length": 2296,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017029383.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CENPI",
"gene_hgnc_id": 3968,
"hgvs_c": "c.893G>A",
"hgvs_p": "p.Arg298His",
"transcript": "XM_047441956.1",
"protein_id": "XP_047297912.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 596,
"cds_start": 893,
"cds_end": null,
"cds_length": 1791,
"cdna_start": 1033,
"cdna_end": null,
"cdna_length": 2642,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047441956.1"
}
],
"gene_symbol": "CENPI",
"gene_hgnc_id": 3968,
"dbsnp": "rs1369005501",
"frequency_reference_population": 0.000004717204,
"hom_count_reference_population": 3,
"allele_count_reference_population": 5,
"gnomad_exomes_af": 0.0000047172,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 5,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.059655576944351196,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.014,
"revel_prediction": "Benign",
"alphamissense_score": 0.0643,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.77,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.534,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -8,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BS2",
"acmg_by_gene": [
{
"score": -8,
"benign_score": 8,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_006733.3",
"gene_symbol": "CENPI",
"hgnc_id": 3968,
"effects": [
"missense_variant"
],
"inheritance_mode": "XL",
"hgvs_c": "c.893G>A",
"hgvs_p": "p.Arg298His"
}
],
"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
}