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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: 16-57439277-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=57439277&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 57439277,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_020313.4",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIAPIN1",
"gene_hgnc_id": 28050,
"hgvs_c": "c.215C>T",
"hgvs_p": "p.Thr72Ile",
"transcript": "NM_020313.4",
"protein_id": "NP_064709.2",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 312,
"cds_start": 215,
"cds_end": null,
"cds_length": 939,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000394391.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_020313.4"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIAPIN1",
"gene_hgnc_id": 28050,
"hgvs_c": "c.215C>T",
"hgvs_p": "p.Thr72Ile",
"transcript": "ENST00000394391.9",
"protein_id": "ENSP00000377914.4",
"transcript_support_level": 1,
"aa_start": 72,
"aa_end": null,
"aa_length": 312,
"cds_start": 215,
"cds_end": null,
"cds_length": 939,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_020313.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000394391.9"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIAPIN1",
"gene_hgnc_id": 28050,
"hgvs_c": "c.176C>T",
"hgvs_p": "p.Thr59Ile",
"transcript": "ENST00000567518.5",
"protein_id": "ENSP00000456114.1",
"transcript_support_level": 1,
"aa_start": 59,
"aa_end": null,
"aa_length": 299,
"cds_start": 176,
"cds_end": null,
"cds_length": 900,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000567518.5"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIAPIN1",
"gene_hgnc_id": 28050,
"hgvs_c": "c.176C>T",
"hgvs_p": "p.Thr59Ile",
"transcript": "ENST00000939128.1",
"protein_id": "ENSP00000609187.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 367,
"cds_start": 176,
"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": "ENST00000939128.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIAPIN1",
"gene_hgnc_id": 28050,
"hgvs_c": "c.215C>T",
"hgvs_p": "p.Thr72Ile",
"transcript": "ENST00000884888.1",
"protein_id": "ENSP00000554947.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 354,
"cds_start": 215,
"cds_end": null,
"cds_length": 1065,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884888.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIAPIN1",
"gene_hgnc_id": 28050,
"hgvs_c": "c.215C>T",
"hgvs_p": "p.Thr72Ile",
"transcript": "ENST00000884887.1",
"protein_id": "ENSP00000554946.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 312,
"cds_start": 215,
"cds_end": null,
"cds_length": 939,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884887.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIAPIN1",
"gene_hgnc_id": 28050,
"hgvs_c": "c.215C>T",
"hgvs_p": "p.Thr72Ile",
"transcript": "ENST00000884889.1",
"protein_id": "ENSP00000554948.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 312,
"cds_start": 215,
"cds_end": null,
"cds_length": 939,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884889.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIAPIN1",
"gene_hgnc_id": 28050,
"hgvs_c": "c.215C>T",
"hgvs_p": "p.Thr72Ile",
"transcript": "ENST00000884891.1",
"protein_id": "ENSP00000554950.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 312,
"cds_start": 215,
"cds_end": null,
"cds_length": 939,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884891.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIAPIN1",
"gene_hgnc_id": 28050,
"hgvs_c": "c.215C>T",
"hgvs_p": "p.Thr72Ile",
"transcript": "ENST00000939130.1",
"protein_id": "ENSP00000609189.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 312,
"cds_start": 215,
"cds_end": null,
"cds_length": 939,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939130.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIAPIN1",
"gene_hgnc_id": 28050,
"hgvs_c": "c.215C>T",
"hgvs_p": "p.Thr72Ile",
"transcript": "ENST00000950775.1",
"protein_id": "ENSP00000620834.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 312,
"cds_start": 215,
"cds_end": null,
"cds_length": 939,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950775.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIAPIN1",
"gene_hgnc_id": 28050,
"hgvs_c": "c.215C>T",
"hgvs_p": "p.Thr72Ile",
"transcript": "ENST00000950773.1",
"protein_id": "ENSP00000620832.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 301,
"cds_start": 215,
"cds_end": null,
"cds_length": 906,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950773.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIAPIN1",
"gene_hgnc_id": 28050,
"hgvs_c": "c.176C>T",
"hgvs_p": "p.Thr59Ile",
"transcript": "NM_001308347.2",
"protein_id": "NP_001295276.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 299,
"cds_start": 176,
"cds_end": null,
"cds_length": 900,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001308347.2"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIAPIN1",
"gene_hgnc_id": 28050,
"hgvs_c": "c.176C>T",
"hgvs_p": "p.Thr59Ile",
"transcript": "ENST00000939127.1",
"protein_id": "ENSP00000609186.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 299,
"cds_start": 176,
"cds_end": null,
"cds_length": 900,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939127.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIAPIN1",
"gene_hgnc_id": 28050,
"hgvs_c": "c.176C>T",
"hgvs_p": "p.Thr59Ile",
"transcript": "ENST00000939129.1",
"protein_id": "ENSP00000609188.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 299,
"cds_start": 176,
"cds_end": null,
"cds_length": 900,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939129.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIAPIN1",
"gene_hgnc_id": 28050,
"hgvs_c": "c.176C>T",
"hgvs_p": "p.Thr59Ile",
"transcript": "ENST00000950774.1",
"protein_id": "ENSP00000620833.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 299,
"cds_start": 176,
"cds_end": null,
"cds_length": 900,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950774.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIAPIN1",
"gene_hgnc_id": 28050,
"hgvs_c": "c.215C>T",
"hgvs_p": "p.Thr72Ile",
"transcript": "ENST00000884886.1",
"protein_id": "ENSP00000554945.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 283,
"cds_start": 215,
"cds_end": null,
"cds_length": 852,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884886.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIAPIN1",
"gene_hgnc_id": 28050,
"hgvs_c": "c.215C>T",
"hgvs_p": "p.Thr72Ile",
"transcript": "NM_001308358.2",
"protein_id": "NP_001295287.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 266,
"cds_start": 215,
"cds_end": null,
"cds_length": 801,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001308358.2"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIAPIN1",
"gene_hgnc_id": 28050,
"hgvs_c": "c.215C>T",
"hgvs_p": "p.Thr72Ile",
"transcript": "ENST00000568940.5",
"protein_id": "ENSP00000454480.1",
"transcript_support_level": 3,
"aa_start": 72,
"aa_end": null,
"aa_length": 266,
"cds_start": 215,
"cds_end": null,
"cds_length": 801,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000568940.5"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIAPIN1",
"gene_hgnc_id": 28050,
"hgvs_c": "c.215C>T",
"hgvs_p": "p.Thr72Ile",
"transcript": "ENST00000569370.5",
"protein_id": "ENSP00000457042.1",
"transcript_support_level": 3,
"aa_start": 72,
"aa_end": null,
"aa_length": 266,
"cds_start": 215,
"cds_end": null,
"cds_length": 801,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000569370.5"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIAPIN1",
"gene_hgnc_id": 28050,
"hgvs_c": "c.215C>T",
"hgvs_p": "p.Thr72Ile",
"transcript": "ENST00000569979.5",
"protein_id": "ENSP00000458000.1",
"transcript_support_level": 2,
"aa_start": 72,
"aa_end": null,
"aa_length": 246,
"cds_start": 215,
"cds_end": null,
"cds_length": 741,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000569979.5"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIAPIN1",
"gene_hgnc_id": 28050,
"hgvs_c": "c.215C>T",
"hgvs_p": "p.Thr72Ile",
"transcript": "ENST00000565961.5",
"protein_id": "ENSP00000455309.1",
"transcript_support_level": 3,
"aa_start": 72,
"aa_end": null,
"aa_length": 239,
"cds_start": 215,
"cds_end": null,
"cds_length": 720,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000565961.5"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIAPIN1",
"gene_hgnc_id": 28050,
"hgvs_c": "c.176C>T",
"hgvs_p": "p.Thr59Ile",
"transcript": "ENST00000884890.1",
"protein_id": "ENSP00000554949.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 233,
"cds_start": 176,
"cds_end": null,
"cds_length": 702,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884890.1"
},
{
"aa_ref": "T",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
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"biotype": "protein_coding",
"feature": "ENST00000563341.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
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"gene_symbol": "CIAPIN1",
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"biotype": "protein_coding",
"feature": "ENST00000565786.5"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
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"exon_count": 5,
"intron_rank": 2,
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"gene_symbol": "CIAPIN1",
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"transcript": "ENST00000567751.5",
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000567751.5"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
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"gene_symbol": "CIAPIN1",
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"biotype": "pseudogene",
"feature": "ENST00000565368.5"
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
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"exon_count": 4,
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"gene_symbol": "CIAPIN1",
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"transcript": "ENST00000566284.1",
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"biotype": "retained_intron",
"feature": "ENST00000566284.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
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"exon_count": 6,
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"gene_symbol": "CIAPIN1",
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"transcript": "ENST00000569246.5",
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"biotype": "pseudogene",
"feature": "ENST00000569246.5"
},
{
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"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
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"gene_symbol": "CIAPIN1",
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"hgvs_c": "n.215C>T",
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"transcript": "ENST00000570000.5",
"protein_id": "ENSP00000457622.1",
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000570000.5"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
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"exon_count": 2,
"intron_rank": null,
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"gene_symbol": "CIAPIN1",
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"hgvs_c": "n.-64C>T",
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"transcript": "ENST00000563561.1",
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"transcript_support_level": 4,
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"aa_length": null,
"cds_start": null,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
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"biotype": "retained_intron",
"feature": "ENST00000563561.1"
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],
"gene_symbol": "CIAPIN1",
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"dbsnp": "rs368064049",
"frequency_reference_population": 0.000016727132,
"hom_count_reference_population": 0,
"allele_count_reference_population": 27,
"gnomad_exomes_af": 0.0000082087,
"gnomad_genomes_af": 0.0000985028,
"gnomad_exomes_ac": 12,
"gnomad_genomes_ac": 15,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.08897972106933594,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.173,
"revel_prediction": "Benign",
"alphamissense_score": 0.1213,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.44,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.189,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_020313.4",
"gene_symbol": "CIAPIN1",
"hgnc_id": 28050,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.215C>T",
"hgvs_p": "p.Thr72Ile"
}
],
"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
}