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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: 1-160343417-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=160343417&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 160343417,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_015331.3",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCSTN",
"gene_hgnc_id": 17091,
"hgvs_c": "c.21C>T",
"hgvs_p": "p.Gly7Gly",
"transcript": "NM_015331.3",
"protein_id": "NP_056146.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 709,
"cds_start": 21,
"cds_end": null,
"cds_length": 2130,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000294785.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015331.3"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCSTN",
"gene_hgnc_id": 17091,
"hgvs_c": "c.21C>T",
"hgvs_p": "p.Gly7Gly",
"transcript": "ENST00000294785.10",
"protein_id": "ENSP00000294785.5",
"transcript_support_level": 1,
"aa_start": 7,
"aa_end": null,
"aa_length": 709,
"cds_start": 21,
"cds_end": null,
"cds_length": 2130,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_015331.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000294785.10"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCSTN",
"gene_hgnc_id": 17091,
"hgvs_c": "n.21C>T",
"hgvs_p": null,
"transcript": "ENST00000368063.6",
"protein_id": "ENSP00000357042.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000368063.6"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCSTN",
"gene_hgnc_id": 17091,
"hgvs_c": "c.21C>T",
"hgvs_p": "p.Gly7Gly",
"transcript": "ENST00000913597.1",
"protein_id": "ENSP00000583656.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 727,
"cds_start": 21,
"cds_end": null,
"cds_length": 2184,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913597.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCSTN",
"gene_hgnc_id": 17091,
"hgvs_c": "c.21C>T",
"hgvs_p": "p.Gly7Gly",
"transcript": "ENST00000874126.1",
"protein_id": "ENSP00000544185.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 726,
"cds_start": 21,
"cds_end": null,
"cds_length": 2181,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874126.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCSTN",
"gene_hgnc_id": 17091,
"hgvs_c": "c.21C>T",
"hgvs_p": "p.Gly7Gly",
"transcript": "ENST00000874138.1",
"protein_id": "ENSP00000544197.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 716,
"cds_start": 21,
"cds_end": null,
"cds_length": 2151,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874138.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCSTN",
"gene_hgnc_id": 17091,
"hgvs_c": "c.21C>T",
"hgvs_p": "p.Gly7Gly",
"transcript": "ENST00000874134.1",
"protein_id": "ENSP00000544193.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 705,
"cds_start": 21,
"cds_end": null,
"cds_length": 2118,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874134.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCSTN",
"gene_hgnc_id": 17091,
"hgvs_c": "c.21C>T",
"hgvs_p": "p.Gly7Gly",
"transcript": "ENST00000874132.1",
"protein_id": "ENSP00000544191.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 701,
"cds_start": 21,
"cds_end": null,
"cds_length": 2106,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874132.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCSTN",
"gene_hgnc_id": 17091,
"hgvs_c": "c.21C>T",
"hgvs_p": "p.Gly7Gly",
"transcript": "ENST00000913594.1",
"protein_id": "ENSP00000583653.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 677,
"cds_start": 21,
"cds_end": null,
"cds_length": 2034,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913594.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCSTN",
"gene_hgnc_id": 17091,
"hgvs_c": "c.21C>T",
"hgvs_p": "p.Gly7Gly",
"transcript": "ENST00000699538.1",
"protein_id": "ENSP00000514423.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 674,
"cds_start": 21,
"cds_end": null,
"cds_length": 2025,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000699538.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCSTN",
"gene_hgnc_id": 17091,
"hgvs_c": "c.21C>T",
"hgvs_p": "p.Gly7Gly",
"transcript": "ENST00000699553.1",
"protein_id": "ENSP00000514430.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 674,
"cds_start": 21,
"cds_end": null,
"cds_length": 2025,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000699553.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCSTN",
"gene_hgnc_id": 17091,
"hgvs_c": "c.21C>T",
"hgvs_p": "p.Gly7Gly",
"transcript": "ENST00000874133.1",
"protein_id": "ENSP00000544192.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 671,
"cds_start": 21,
"cds_end": null,
"cds_length": 2016,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874133.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCSTN",
"gene_hgnc_id": 17091,
"hgvs_c": "c.21C>T",
"hgvs_p": "p.Gly7Gly",
"transcript": "ENST00000913599.1",
"protein_id": "ENSP00000583658.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 668,
"cds_start": 21,
"cds_end": null,
"cds_length": 2007,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913599.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCSTN",
"gene_hgnc_id": 17091,
"hgvs_c": "c.21C>T",
"hgvs_p": "p.Gly7Gly",
"transcript": "ENST00000874136.1",
"protein_id": "ENSP00000544195.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 658,
"cds_start": 21,
"cds_end": null,
"cds_length": 1977,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874136.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCSTN",
"gene_hgnc_id": 17091,
"hgvs_c": "c.21C>T",
"hgvs_p": "p.Gly7Gly",
"transcript": "ENST00000874137.1",
"protein_id": "ENSP00000544196.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 645,
"cds_start": 21,
"cds_end": null,
"cds_length": 1938,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874137.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCSTN",
"gene_hgnc_id": 17091,
"hgvs_c": "c.21C>T",
"hgvs_p": "p.Gly7Gly",
"transcript": "NM_001349729.2",
"protein_id": "NP_001336658.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 638,
"cds_start": 21,
"cds_end": null,
"cds_length": 1917,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349729.2"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCSTN",
"gene_hgnc_id": 17091,
"hgvs_c": "c.21C>T",
"hgvs_p": "p.Gly7Gly",
"transcript": "ENST00000874129.1",
"protein_id": "ENSP00000544188.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 638,
"cds_start": 21,
"cds_end": null,
"cds_length": 1917,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874129.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCSTN",
"gene_hgnc_id": 17091,
"hgvs_c": "c.21C>T",
"hgvs_p": "p.Gly7Gly",
"transcript": "ENST00000699546.1",
"protein_id": "ENSP00000514428.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 622,
"cds_start": 21,
"cds_end": null,
"cds_length": 1869,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000699546.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCSTN",
"gene_hgnc_id": 17091,
"hgvs_c": "c.21C>T",
"hgvs_p": "p.Gly7Gly",
"transcript": "ENST00000874135.1",
"protein_id": "ENSP00000544194.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 592,
"cds_start": 21,
"cds_end": null,
"cds_length": 1779,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874135.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCSTN",
"gene_hgnc_id": 17091,
"hgvs_c": "c.21C>T",
"hgvs_p": "p.Gly7Gly",
"transcript": "ENST00000913598.1",
"protein_id": "ENSP00000583657.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 587,
"cds_start": 21,
"cds_end": null,
"cds_length": 1764,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913598.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCSTN",
"gene_hgnc_id": 17091,
"hgvs_c": "c.21C>T",
"hgvs_p": "p.Gly7Gly",
"transcript": "ENST00000913596.1",
"protein_id": "ENSP00000583655.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 585,
"cds_start": 21,
"cds_end": null,
"cds_length": 1758,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913596.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCSTN",
"gene_hgnc_id": 17091,
"hgvs_c": "c.21C>T",
"hgvs_p": "p.Gly7Gly",
"transcript": "NM_001290186.2",
"protein_id": "NP_001277115.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 571,
"cds_start": 21,
"cds_end": null,
"cds_length": 1716,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001290186.2"
},
{
"aa_ref": "G",
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"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPA",
"gene_hgnc_id": 2230,
"hgvs_c": "n.-170G>A",
"hgvs_p": null,
"transcript": "ENST00000696212.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000696212.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPA",
"gene_hgnc_id": 2230,
"hgvs_c": "n.-165G>A",
"hgvs_p": null,
"transcript": "ENST00000696213.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000696213.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPA",
"gene_hgnc_id": 2230,
"hgvs_c": "n.-144G>A",
"hgvs_p": null,
"transcript": "ENST00000696214.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000696214.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPA",
"gene_hgnc_id": 2230,
"hgvs_c": "n.-144G>A",
"hgvs_p": null,
"transcript": "ENST00000696215.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000696215.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPA",
"gene_hgnc_id": 2230,
"hgvs_c": "n.-170G>A",
"hgvs_p": null,
"transcript": "ENST00000696216.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000696216.1"
}
],
"gene_symbol": "NCSTN",
"gene_hgnc_id": 17091,
"dbsnp": "rs1415017171",
"frequency_reference_population": 6.846295e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.8463e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.4699999988079071,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.10999999940395355,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.47,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.495,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.11,
"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": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP6_Moderate,BP7",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 7,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_015331.3",
"gene_symbol": "NCSTN",
"hgnc_id": 17091,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.21C>T",
"hgvs_p": "p.Gly7Gly"
},
{
"score": -4,
"benign_score": 6,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000696209.1",
"gene_symbol": "COPA",
"hgnc_id": 2230,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "n.150G>A",
"hgvs_p": null
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}