← 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: 9-128166251-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=128166251&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 128166251,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_001257975.2",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIZ1",
"gene_hgnc_id": 16744,
"hgvs_c": "c.2643G>A",
"hgvs_p": "p.Thr881Thr",
"transcript": "NM_001131016.2",
"protein_id": "NP_001124488.1",
"transcript_support_level": null,
"aa_start": 881,
"aa_end": null,
"aa_length": 898,
"cds_start": 2643,
"cds_end": null,
"cds_length": 2697,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000372938.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001131016.2"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIZ1",
"gene_hgnc_id": 16744,
"hgvs_c": "c.2643G>A",
"hgvs_p": "p.Thr881Thr",
"transcript": "ENST00000372938.10",
"protein_id": "ENSP00000362029.5",
"transcript_support_level": 1,
"aa_start": 881,
"aa_end": null,
"aa_length": 898,
"cds_start": 2643,
"cds_end": null,
"cds_length": 2697,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001131016.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000372938.10"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIZ1",
"gene_hgnc_id": 16744,
"hgvs_c": "c.2409G>A",
"hgvs_p": "p.Thr803Thr",
"transcript": "ENST00000415526.5",
"protein_id": "ENSP00000398011.1",
"transcript_support_level": 1,
"aa_start": 803,
"aa_end": null,
"aa_length": 820,
"cds_start": 2409,
"cds_end": null,
"cds_length": 2463,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000415526.5"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIZ1",
"gene_hgnc_id": 16744,
"hgvs_c": "c.2403G>A",
"hgvs_p": "p.Thr801Thr",
"transcript": "ENST00000372954.5",
"protein_id": "ENSP00000362045.1",
"transcript_support_level": 1,
"aa_start": 801,
"aa_end": null,
"aa_length": 818,
"cds_start": 2403,
"cds_end": null,
"cds_length": 2457,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000372954.5"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIZ1",
"gene_hgnc_id": 16744,
"hgvs_c": "c.2811G>A",
"hgvs_p": "p.Thr937Thr",
"transcript": "NM_001257975.2",
"protein_id": "NP_001244904.1",
"transcript_support_level": null,
"aa_start": 937,
"aa_end": null,
"aa_length": 954,
"cds_start": 2811,
"cds_end": null,
"cds_length": 2865,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001257975.2"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIZ1",
"gene_hgnc_id": 16744,
"hgvs_c": "c.2811G>A",
"hgvs_p": "p.Thr937Thr",
"transcript": "ENST00000538431.5",
"protein_id": "ENSP00000439244.2",
"transcript_support_level": 2,
"aa_start": 937,
"aa_end": null,
"aa_length": 954,
"cds_start": 2811,
"cds_end": null,
"cds_length": 2865,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000538431.5"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIZ1",
"gene_hgnc_id": 16744,
"hgvs_c": "c.2811G>A",
"hgvs_p": "p.Thr937Thr",
"transcript": "ENST00000866508.1",
"protein_id": "ENSP00000536567.1",
"transcript_support_level": null,
"aa_start": 937,
"aa_end": null,
"aa_length": 954,
"cds_start": 2811,
"cds_end": null,
"cds_length": 2865,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866508.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIZ1",
"gene_hgnc_id": 16744,
"hgvs_c": "c.2661G>A",
"hgvs_p": "p.Thr887Thr",
"transcript": "ENST00000866505.1",
"protein_id": "ENSP00000536564.1",
"transcript_support_level": null,
"aa_start": 887,
"aa_end": null,
"aa_length": 904,
"cds_start": 2661,
"cds_end": null,
"cds_length": 2715,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866505.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIZ1",
"gene_hgnc_id": 16744,
"hgvs_c": "c.2643G>A",
"hgvs_p": "p.Thr881Thr",
"transcript": "NM_012127.3",
"protein_id": "NP_036259.2",
"transcript_support_level": null,
"aa_start": 881,
"aa_end": null,
"aa_length": 898,
"cds_start": 2643,
"cds_end": null,
"cds_length": 2697,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_012127.3"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIZ1",
"gene_hgnc_id": 16744,
"hgvs_c": "c.2643G>A",
"hgvs_p": "p.Thr881Thr",
"transcript": "ENST00000634901.1",
"protein_id": "ENSP00000489425.1",
"transcript_support_level": 5,
"aa_start": 881,
"aa_end": null,
"aa_length": 898,
"cds_start": 2643,
"cds_end": null,
"cds_length": 2697,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000634901.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIZ1",
"gene_hgnc_id": 16744,
"hgvs_c": "c.2643G>A",
"hgvs_p": "p.Thr881Thr",
"transcript": "ENST00000866500.1",
"protein_id": "ENSP00000536559.1",
"transcript_support_level": null,
"aa_start": 881,
"aa_end": null,
"aa_length": 898,
"cds_start": 2643,
"cds_end": null,
"cds_length": 2697,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866500.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIZ1",
"gene_hgnc_id": 16744,
"hgvs_c": "c.2643G>A",
"hgvs_p": "p.Thr881Thr",
"transcript": "ENST00000866501.1",
"protein_id": "ENSP00000536560.1",
"transcript_support_level": null,
"aa_start": 881,
"aa_end": null,
"aa_length": 898,
"cds_start": 2643,
"cds_end": null,
"cds_length": 2697,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866501.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIZ1",
"gene_hgnc_id": 16744,
"hgvs_c": "c.2643G>A",
"hgvs_p": "p.Thr881Thr",
"transcript": "ENST00000866510.1",
"protein_id": "ENSP00000536569.1",
"transcript_support_level": null,
"aa_start": 881,
"aa_end": null,
"aa_length": 898,
"cds_start": 2643,
"cds_end": null,
"cds_length": 2697,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866510.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIZ1",
"gene_hgnc_id": 16744,
"hgvs_c": "c.2643G>A",
"hgvs_p": "p.Thr881Thr",
"transcript": "ENST00000866511.1",
"protein_id": "ENSP00000536570.1",
"transcript_support_level": null,
"aa_start": 881,
"aa_end": null,
"aa_length": 898,
"cds_start": 2643,
"cds_end": null,
"cds_length": 2697,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866511.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIZ1",
"gene_hgnc_id": 16744,
"hgvs_c": "c.2643G>A",
"hgvs_p": "p.Thr881Thr",
"transcript": "ENST00000866512.1",
"protein_id": "ENSP00000536571.1",
"transcript_support_level": null,
"aa_start": 881,
"aa_end": null,
"aa_length": 898,
"cds_start": 2643,
"cds_end": null,
"cds_length": 2697,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866512.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIZ1",
"gene_hgnc_id": 16744,
"hgvs_c": "c.2643G>A",
"hgvs_p": "p.Thr881Thr",
"transcript": "ENST00000866513.1",
"protein_id": "ENSP00000536572.1",
"transcript_support_level": null,
"aa_start": 881,
"aa_end": null,
"aa_length": 898,
"cds_start": 2643,
"cds_end": null,
"cds_length": 2697,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866513.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIZ1",
"gene_hgnc_id": 16744,
"hgvs_c": "c.2643G>A",
"hgvs_p": "p.Thr881Thr",
"transcript": "ENST00000965482.1",
"protein_id": "ENSP00000635541.1",
"transcript_support_level": null,
"aa_start": 881,
"aa_end": null,
"aa_length": 898,
"cds_start": 2643,
"cds_end": null,
"cds_length": 2697,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965482.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIZ1",
"gene_hgnc_id": 16744,
"hgvs_c": "c.2643G>A",
"hgvs_p": "p.Thr881Thr",
"transcript": "ENST00000965485.1",
"protein_id": "ENSP00000635544.1",
"transcript_support_level": null,
"aa_start": 881,
"aa_end": null,
"aa_length": 898,
"cds_start": 2643,
"cds_end": null,
"cds_length": 2697,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965485.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIZ1",
"gene_hgnc_id": 16744,
"hgvs_c": "c.2640G>A",
"hgvs_p": "p.Thr880Thr",
"transcript": "ENST00000965486.1",
"protein_id": "ENSP00000635545.1",
"transcript_support_level": null,
"aa_start": 880,
"aa_end": null,
"aa_length": 897,
"cds_start": 2640,
"cds_end": null,
"cds_length": 2694,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965486.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIZ1",
"gene_hgnc_id": 16744,
"hgvs_c": "c.2637G>A",
"hgvs_p": "p.Thr879Thr",
"transcript": "ENST00000866506.1",
"protein_id": "ENSP00000536565.1",
"transcript_support_level": null,
"aa_start": 879,
"aa_end": null,
"aa_length": 896,
"cds_start": 2637,
"cds_end": null,
"cds_length": 2691,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866506.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIZ1",
"gene_hgnc_id": 16744,
"hgvs_c": "c.2571G>A",
"hgvs_p": "p.Thr857Thr",
"transcript": "ENST00000866502.1",
"protein_id": "ENSP00000536561.1",
"transcript_support_level": null,
"aa_start": 857,
"aa_end": null,
"aa_length": 874,
"cds_start": 2571,
"cds_end": null,
"cds_length": 2625,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866502.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIZ1",
"gene_hgnc_id": 16744,
"hgvs_c": "c.2571G>A",
"hgvs_p": "p.Thr857Thr",
"transcript": "ENST00000866503.1",
"protein_id": "ENSP00000536562.1",
"transcript_support_level": null,
"aa_start": 857,
"aa_end": null,
"aa_length": 874,
"cds_start": 2571,
"cds_end": null,
"cds_length": 2625,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866503.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIZ1",
"gene_hgnc_id": 16744,
"hgvs_c": "c.2571G>A",
"hgvs_p": "p.Thr857Thr",
"transcript": "ENST00000866504.1",
"protein_id": "ENSP00000536563.1",
"transcript_support_level": null,
"aa_start": 857,
"aa_end": null,
"aa_length": 874,
"cds_start": 2571,
"cds_end": null,
"cds_length": 2625,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866504.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIZ1",
"gene_hgnc_id": 16744,
"hgvs_c": "c.2565G>A",
"hgvs_p": "p.Thr855Thr",
"transcript": "ENST00000965483.1",
"protein_id": "ENSP00000635542.1",
"transcript_support_level": null,
"aa_start": 855,
"aa_end": null,
"aa_length": 872,
"cds_start": 2565,
"cds_end": null,
"cds_length": 2619,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965483.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIZ1",
"gene_hgnc_id": 16744,
"hgvs_c": "c.2559G>A",
"hgvs_p": "p.Thr853Thr",
"transcript": "ENST00000277465.8",
"protein_id": "ENSP00000277465.4",
"transcript_support_level": 5,
"aa_start": 853,
"aa_end": null,
"aa_length": 870,
"cds_start": 2559,
"cds_end": null,
"cds_length": 2613,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000277465.8"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIZ1",
"gene_hgnc_id": 16744,
"hgvs_c": "c.2559G>A",
"hgvs_p": "p.Thr853Thr",
"transcript": "ENST00000357558.9",
"protein_id": "ENSP00000350169.7",
"transcript_support_level": 5,
"aa_start": 853,
"aa_end": null,
"aa_length": 870,
"cds_start": 2559,
"cds_end": null,
"cds_length": 2613,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000357558.9"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIZ1",
"gene_hgnc_id": 16744,
"hgvs_c": "c.2475G>A",
"hgvs_p": "p.Thr825Thr",
"transcript": "NM_001131015.2",
"protein_id": "NP_001124487.1",
"transcript_support_level": null,
"aa_start": 825,
"aa_end": null,
"aa_length": 842,
"cds_start": 2475,
"cds_end": null,
"cds_length": 2529,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001131015.2"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIZ1",
"gene_hgnc_id": 16744,
"hgvs_c": "c.2475G>A",
"hgvs_p": "p.Thr825Thr",
"transcript": "ENST00000372948.7",
"protein_id": "ENSP00000362039.3",
"transcript_support_level": 2,
"aa_start": 825,
"aa_end": null,
"aa_length": 842,
"cds_start": 2475,
"cds_end": null,
"cds_length": 2529,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000372948.7"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIZ1",
"gene_hgnc_id": 16744,
"hgvs_c": "c.2460G>A",
"hgvs_p": "p.Thr820Thr",
"transcript": "NM_001131017.2",
"protein_id": "NP_001124489.1",
"transcript_support_level": null,
"aa_start": 820,
"aa_end": null,
"aa_length": 837,
"cds_start": 2460,
"cds_end": null,
"cds_length": 2514,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001131017.2"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIZ1",
"gene_hgnc_id": 16744,
"hgvs_c": "c.2403G>A",
"hgvs_p": "p.Thr801Thr",
"transcript": "NM_001131018.2",
"protein_id": "NP_001124490.1",
"transcript_support_level": null,
"aa_start": 801,
"aa_end": null,
"aa_length": 818,
"cds_start": 2403,
"cds_end": null,
"cds_length": 2457,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001131018.2"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIZ1",
"gene_hgnc_id": 16744,
"hgvs_c": "c.2397G>A",
"hgvs_p": "p.Thr799Thr",
"transcript": "ENST00000866509.1",
"protein_id": "ENSP00000536568.1",
"transcript_support_level": null,
"aa_start": 799,
"aa_end": null,
"aa_length": 816,
"cds_start": 2397,
"cds_end": null,
"cds_length": 2451,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866509.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIZ1",
"gene_hgnc_id": 16744,
"hgvs_c": "c.2397G>A",
"hgvs_p": "p.Thr799Thr",
"transcript": "ENST00000937742.1",
"protein_id": "ENSP00000607801.1",
"transcript_support_level": null,
"aa_start": 799,
"aa_end": null,
"aa_length": 816,
"cds_start": 2397,
"cds_end": null,
"cds_length": 2451,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937742.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIZ1",
"gene_hgnc_id": 16744,
"hgvs_c": "c.2382G>A",
"hgvs_p": "p.Thr794Thr",
"transcript": "ENST00000965484.1",
"protein_id": "ENSP00000635543.1",
"transcript_support_level": null,
"aa_start": 794,
"aa_end": null,
"aa_length": 811,
"cds_start": 2382,
"cds_end": null,
"cds_length": 2436,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965484.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIZ1",
"gene_hgnc_id": 16744,
"hgvs_c": "c.2340G>A",
"hgvs_p": "p.Thr780Thr",
"transcript": "NM_001257976.2",
"protein_id": "NP_001244905.1",
"transcript_support_level": null,
"aa_start": 780,
"aa_end": null,
"aa_length": 797,
"cds_start": 2340,
"cds_end": null,
"cds_length": 2394,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001257976.2"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIZ1",
"gene_hgnc_id": 16744,
"hgvs_c": "c.2340G>A",
"hgvs_p": "p.Thr780Thr",
"transcript": "ENST00000629610.2",
"protein_id": "ENSP00000486816.1",
"transcript_support_level": 2,
"aa_start": 780,
"aa_end": null,
"aa_length": 797,
"cds_start": 2340,
"cds_end": null,
"cds_length": 2394,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000629610.2"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIZ1",
"gene_hgnc_id": 16744,
"hgvs_c": "c.2157G>A",
"hgvs_p": "p.Thr719Thr",
"transcript": "ENST00000937743.1",
"protein_id": "ENSP00000607802.1",
"transcript_support_level": null,
"aa_start": 719,
"aa_end": null,
"aa_length": 736,
"cds_start": 2157,
"cds_end": null,
"cds_length": 2211,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937743.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIZ1",
"gene_hgnc_id": 16744,
"hgvs_c": "c.1914G>A",
"hgvs_p": "p.Thr638Thr",
"transcript": "ENST00000866507.1",
"protein_id": "ENSP00000536566.1",
"transcript_support_level": null,
"aa_start": 638,
"aa_end": null,
"aa_length": 655,
"cds_start": 1914,
"cds_end": null,
"cds_length": 1968,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866507.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "CIZ1",
"gene_hgnc_id": 16744,
"hgvs_c": "c.2454+6G>A",
"hgvs_p": null,
"transcript": "ENST00000651955.1",
"protein_id": "ENSP00000498625.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 820,
"cds_start": null,
"cds_end": null,
"cds_length": 2463,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000651955.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIZ1",
"gene_hgnc_id": 16744,
"hgvs_c": "n.493G>A",
"hgvs_p": null,
"transcript": "ENST00000461765.5",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000461765.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIZ1",
"gene_hgnc_id": 16744,
"hgvs_c": "n.530G>A",
"hgvs_p": null,
"transcript": "ENST00000471773.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000471773.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIZ1",
"gene_hgnc_id": 16744,
"hgvs_c": "n.657G>A",
"hgvs_p": null,
"transcript": "ENST00000485862.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000485862.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIZ1",
"gene_hgnc_id": 16744,
"hgvs_c": "c.*18G>A",
"hgvs_p": null,
"transcript": "ENST00000471839.5",
"protein_id": "ENSP00000489129.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 308,
"cds_start": null,
"cds_end": null,
"cds_length": 927,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000471839.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIZ1",
"gene_hgnc_id": 16744,
"hgvs_c": "n.*56G>A",
"hgvs_p": null,
"transcript": "ENST00000491487.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000491487.1"
}
],
"gene_symbol": "CIZ1",
"gene_hgnc_id": 16744,
"dbsnp": "rs773659289",
"frequency_reference_population": 0.000076868346,
"hom_count_reference_population": 0,
"allele_count_reference_population": 113,
"gnomad_exomes_af": 0.0000785003,
"gnomad_genomes_af": 0.0000619792,
"gnomad_exomes_ac": 104,
"gnomad_genomes_ac": 9,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.5699999928474426,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.57,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.036,
"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": -11,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BP7,BS2",
"acmg_by_gene": [
{
"score": -11,
"benign_score": 11,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BP7",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001257975.2",
"gene_symbol": "CIZ1",
"hgnc_id": 16744,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD,Unknown",
"hgvs_c": "c.2811G>A",
"hgvs_p": "p.Thr937Thr"
}
],
"clinvar_disease": "Dystonic disorder",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "Dystonic disorder",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}