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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: X-101127612-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=101127612&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 101127612,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_006733.3",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "V",
"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.1021C>G",
"hgvs_p": "p.Leu341Val",
"transcript": "NM_001386188.2",
"protein_id": "NP_001373117.1",
"transcript_support_level": null,
"aa_start": 341,
"aa_end": null,
"aa_length": 756,
"cds_start": 1021,
"cds_end": null,
"cds_length": 2271,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000682095.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001386188.2"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": true,
"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.1021C>G",
"hgvs_p": "p.Leu341Val",
"transcript": "ENST00000682095.1",
"protein_id": "ENSP00000507927.1",
"transcript_support_level": null,
"aa_start": 341,
"aa_end": null,
"aa_length": 756,
"cds_start": 1021,
"cds_end": null,
"cds_length": 2271,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001386188.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000682095.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"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.1021C>G",
"hgvs_p": "p.Leu341Val",
"transcript": "NM_006733.3",
"protein_id": "NP_006724.2",
"transcript_support_level": null,
"aa_start": 341,
"aa_end": null,
"aa_length": 756,
"cds_start": 1021,
"cds_end": null,
"cds_length": 2271,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006733.3"
},
{
"aa_ref": "L",
"aa_alt": "V",
"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.1021C>G",
"hgvs_p": "p.Leu341Val",
"transcript": "ENST00000372927.5",
"protein_id": "ENSP00000362018.1",
"transcript_support_level": 5,
"aa_start": 341,
"aa_end": null,
"aa_length": 756,
"cds_start": 1021,
"cds_end": null,
"cds_length": 2271,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000372927.5"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CENPI",
"gene_hgnc_id": 3968,
"hgvs_c": "c.1021C>G",
"hgvs_p": "p.Leu341Val",
"transcript": "ENST00000684367.1",
"protein_id": "ENSP00000507595.1",
"transcript_support_level": null,
"aa_start": 341,
"aa_end": null,
"aa_length": 756,
"cds_start": 1021,
"cds_end": null,
"cds_length": 2271,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000684367.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"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.1021C>G",
"hgvs_p": "p.Leu341Val",
"transcript": "ENST00000907101.1",
"protein_id": "ENSP00000577160.1",
"transcript_support_level": null,
"aa_start": 341,
"aa_end": null,
"aa_length": 756,
"cds_start": 1021,
"cds_end": null,
"cds_length": 2271,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907101.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CENPI",
"gene_hgnc_id": 3968,
"hgvs_c": "c.1021C>G",
"hgvs_p": "p.Leu341Val",
"transcript": "ENST00000907102.1",
"protein_id": "ENSP00000577161.1",
"transcript_support_level": null,
"aa_start": 341,
"aa_end": null,
"aa_length": 756,
"cds_start": 1021,
"cds_end": null,
"cds_length": 2271,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907102.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"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.1021C>G",
"hgvs_p": "p.Leu341Val",
"transcript": "ENST00000933782.1",
"protein_id": "ENSP00000603841.1",
"transcript_support_level": null,
"aa_start": 341,
"aa_end": null,
"aa_length": 756,
"cds_start": 1021,
"cds_end": null,
"cds_length": 2271,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933782.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CENPI",
"gene_hgnc_id": 3968,
"hgvs_c": "c.1021C>G",
"hgvs_p": "p.Leu341Val",
"transcript": "NM_001318521.2",
"protein_id": "NP_001305450.1",
"transcript_support_level": null,
"aa_start": 341,
"aa_end": null,
"aa_length": 742,
"cds_start": 1021,
"cds_end": null,
"cds_length": 2229,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318521.2"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CENPI",
"gene_hgnc_id": 3968,
"hgvs_c": "c.1021C>G",
"hgvs_p": "p.Leu341Val",
"transcript": "ENST00000423383.3",
"protein_id": "ENSP00000399274.2",
"transcript_support_level": 5,
"aa_start": 341,
"aa_end": null,
"aa_length": 742,
"cds_start": 1021,
"cds_end": null,
"cds_length": 2229,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000423383.3"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CENPI",
"gene_hgnc_id": 3968,
"hgvs_c": "c.1021C>G",
"hgvs_p": "p.Leu341Val",
"transcript": "ENST00000933783.1",
"protein_id": "ENSP00000603842.1",
"transcript_support_level": null,
"aa_start": 341,
"aa_end": null,
"aa_length": 742,
"cds_start": 1021,
"cds_end": null,
"cds_length": 2229,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933783.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CENPI",
"gene_hgnc_id": 3968,
"hgvs_c": "c.1021C>G",
"hgvs_p": "p.Leu341Val",
"transcript": "ENST00000933784.1",
"protein_id": "ENSP00000603843.1",
"transcript_support_level": null,
"aa_start": 341,
"aa_end": null,
"aa_length": 742,
"cds_start": 1021,
"cds_end": null,
"cds_length": 2229,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933784.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"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": "CENPI",
"gene_hgnc_id": 3968,
"hgvs_c": "c.1021C>G",
"hgvs_p": "p.Leu341Val",
"transcript": "NM_001318523.1",
"protein_id": "NP_001305452.1",
"transcript_support_level": null,
"aa_start": 341,
"aa_end": null,
"aa_length": 522,
"cds_start": 1021,
"cds_end": null,
"cds_length": 1569,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318523.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CENPI",
"gene_hgnc_id": 3968,
"hgvs_c": "c.1021C>G",
"hgvs_p": "p.Leu341Val",
"transcript": "ENST00000372926.5",
"protein_id": "ENSP00000362017.1",
"transcript_support_level": 5,
"aa_start": 341,
"aa_end": null,
"aa_length": 522,
"cds_start": 1021,
"cds_end": null,
"cds_length": 1569,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000372926.5"
},
{
"aa_ref": "L",
"aa_alt": "V",
"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.1021C>G",
"hgvs_p": "p.Leu341Val",
"transcript": "XM_005262111.3",
"protein_id": "XP_005262168.1",
"transcript_support_level": null,
"aa_start": 341,
"aa_end": null,
"aa_length": 756,
"cds_start": 1021,
"cds_end": null,
"cds_length": 2271,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005262111.3"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CENPI",
"gene_hgnc_id": 3968,
"hgvs_c": "c.1021C>G",
"hgvs_p": "p.Leu341Val",
"transcript": "XM_011530895.3",
"protein_id": "XP_011529197.1",
"transcript_support_level": null,
"aa_start": 341,
"aa_end": null,
"aa_length": 756,
"cds_start": 1021,
"cds_end": null,
"cds_length": 2271,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011530895.3"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CENPI",
"gene_hgnc_id": 3968,
"hgvs_c": "c.1021C>G",
"hgvs_p": "p.Leu341Val",
"transcript": "XM_047441947.1",
"protein_id": "XP_047297903.1",
"transcript_support_level": null,
"aa_start": 341,
"aa_end": null,
"aa_length": 756,
"cds_start": 1021,
"cds_end": null,
"cds_length": 2271,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047441947.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CENPI",
"gene_hgnc_id": 3968,
"hgvs_c": "c.1021C>G",
"hgvs_p": "p.Leu341Val",
"transcript": "XM_047441948.1",
"protein_id": "XP_047297904.1",
"transcript_support_level": null,
"aa_start": 341,
"aa_end": null,
"aa_length": 756,
"cds_start": 1021,
"cds_end": null,
"cds_length": 2271,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047441948.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"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.1021C>G",
"hgvs_p": "p.Leu341Val",
"transcript": "XM_047441949.1",
"protein_id": "XP_047297905.1",
"transcript_support_level": null,
"aa_start": 341,
"aa_end": null,
"aa_length": 756,
"cds_start": 1021,
"cds_end": null,
"cds_length": 2271,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047441949.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"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.1021C>G",
"hgvs_p": "p.Leu341Val",
"transcript": "XM_047441950.1",
"protein_id": "XP_047297906.1",
"transcript_support_level": null,
"aa_start": 341,
"aa_end": null,
"aa_length": 756,
"cds_start": 1021,
"cds_end": null,
"cds_length": 2271,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047441950.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"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.1021C>G",
"hgvs_p": "p.Leu341Val",
"transcript": "XM_047441951.1",
"protein_id": "XP_047297907.1",
"transcript_support_level": null,
"aa_start": 341,
"aa_end": null,
"aa_length": 756,
"cds_start": 1021,
"cds_end": null,
"cds_length": 2271,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047441951.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CENPI",
"gene_hgnc_id": 3968,
"hgvs_c": "c.1021C>G",
"hgvs_p": "p.Leu341Val",
"transcript": "XM_047441952.1",
"protein_id": "XP_047297908.1",
"transcript_support_level": null,
"aa_start": 341,
"aa_end": null,
"aa_length": 742,
"cds_start": 1021,
"cds_end": null,
"cds_length": 2229,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
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{
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{
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{
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{
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{
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"transcript": "XM_047441956.1",
"protein_id": "XP_047297912.1",
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],
"gene_symbol": "CENPI",
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"dbsnp": "rs772648211",
"frequency_reference_population": 0.000023470559,
"hom_count_reference_population": 12,
"allele_count_reference_population": 28,
"gnomad_exomes_af": 0.0000249933,
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"gnomad_exomes_ac": 27,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.06632643938064575,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.08,
"revel_prediction": "Benign",
"alphamissense_score": 0.0681,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.75,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.389,
"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": [
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],
"inheritance_mode": "XL",
"hgvs_c": "c.1021C>G",
"hgvs_p": "p.Leu341Val"
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],
"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
}