← 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: 12-54348016-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=54348016&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 54348016,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001271736.2",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPZ1",
"gene_hgnc_id": 2243,
"hgvs_c": "c.412G>C",
"hgvs_p": "p.Asp138His",
"transcript": "NM_016057.3",
"protein_id": "NP_057141.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 177,
"cds_start": 412,
"cds_end": null,
"cds_length": 534,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000262061.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016057.3"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPZ1",
"gene_hgnc_id": 2243,
"hgvs_c": "c.412G>C",
"hgvs_p": "p.Asp138His",
"transcript": "ENST00000262061.7",
"protein_id": "ENSP00000262061.2",
"transcript_support_level": 1,
"aa_start": 138,
"aa_end": null,
"aa_length": 177,
"cds_start": 412,
"cds_end": null,
"cds_length": 534,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_016057.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000262061.7"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPZ1",
"gene_hgnc_id": 2243,
"hgvs_c": "c.436G>C",
"hgvs_p": "p.Asp146His",
"transcript": "ENST00000549043.5",
"protein_id": "ENSP00000449270.1",
"transcript_support_level": 1,
"aa_start": 146,
"aa_end": null,
"aa_length": 185,
"cds_start": 436,
"cds_end": null,
"cds_length": 558,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000549043.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPZ1",
"gene_hgnc_id": 2243,
"hgvs_c": "n.437G>C",
"hgvs_p": null,
"transcript": "ENST00000550027.5",
"protein_id": null,
"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": "retained_intron",
"feature": "ENST00000550027.5"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPZ1",
"gene_hgnc_id": 2243,
"hgvs_c": "c.475G>C",
"hgvs_p": "p.Asp159His",
"transcript": "ENST00000552218.5",
"protein_id": "ENSP00000449341.1",
"transcript_support_level": 5,
"aa_start": 159,
"aa_end": null,
"aa_length": 198,
"cds_start": 475,
"cds_end": null,
"cds_length": 597,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000552218.5"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPZ1",
"gene_hgnc_id": 2243,
"hgvs_c": "c.445G>C",
"hgvs_p": "p.Asp149His",
"transcript": "ENST00000945182.1",
"protein_id": "ENSP00000615241.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 188,
"cds_start": 445,
"cds_end": null,
"cds_length": 567,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945182.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPZ1",
"gene_hgnc_id": 2243,
"hgvs_c": "c.436G>C",
"hgvs_p": "p.Asp146His",
"transcript": "NM_001271736.2",
"protein_id": "NP_001258665.1",
"transcript_support_level": null,
"aa_start": 146,
"aa_end": null,
"aa_length": 185,
"cds_start": 436,
"cds_end": null,
"cds_length": 558,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001271736.2"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPZ1",
"gene_hgnc_id": 2243,
"hgvs_c": "c.343G>C",
"hgvs_p": "p.Asp115His",
"transcript": "ENST00000553231.5",
"protein_id": "ENSP00000448997.1",
"transcript_support_level": 5,
"aa_start": 115,
"aa_end": null,
"aa_length": 164,
"cds_start": 343,
"cds_end": null,
"cds_length": 495,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000553231.5"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPZ1",
"gene_hgnc_id": 2243,
"hgvs_c": "c.412G>C",
"hgvs_p": "p.Asp138His",
"transcript": "ENST00000551779.5",
"protein_id": "ENSP00000449108.1",
"transcript_support_level": 2,
"aa_start": 138,
"aa_end": null,
"aa_length": 163,
"cds_start": 412,
"cds_end": null,
"cds_length": 492,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000551779.5"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPZ1",
"gene_hgnc_id": 2243,
"hgvs_c": "c.412G>C",
"hgvs_p": "p.Asp138His",
"transcript": "NM_001271735.2",
"protein_id": "NP_001258664.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 160,
"cds_start": 412,
"cds_end": null,
"cds_length": 483,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001271735.2"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPZ1",
"gene_hgnc_id": 2243,
"hgvs_c": "c.412G>C",
"hgvs_p": "p.Asp138His",
"transcript": "ENST00000552362.5",
"protein_id": "ENSP00000448444.1",
"transcript_support_level": 4,
"aa_start": 138,
"aa_end": null,
"aa_length": 160,
"cds_start": 412,
"cds_end": null,
"cds_length": 483,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000552362.5"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPZ1",
"gene_hgnc_id": 2243,
"hgvs_c": "c.343G>C",
"hgvs_p": "p.Asp115His",
"transcript": "NM_001271734.2",
"protein_id": "NP_001258663.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 154,
"cds_start": 343,
"cds_end": null,
"cds_length": 465,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001271734.2"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPZ1",
"gene_hgnc_id": 2243,
"hgvs_c": "c.343G>C",
"hgvs_p": "p.Asp115His",
"transcript": "ENST00000455864.6",
"protein_id": "ENSP00000410620.2",
"transcript_support_level": 2,
"aa_start": 115,
"aa_end": null,
"aa_length": 154,
"cds_start": 343,
"cds_end": null,
"cds_length": 465,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000455864.6"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPZ1",
"gene_hgnc_id": 2243,
"hgvs_c": "c.238G>C",
"hgvs_p": "p.Asp80His",
"transcript": "ENST00000549116.5",
"protein_id": "ENSP00000448235.1",
"transcript_support_level": 2,
"aa_start": 80,
"aa_end": null,
"aa_length": 119,
"cds_start": 238,
"cds_end": null,
"cds_length": 360,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000549116.5"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPZ1",
"gene_hgnc_id": 2243,
"hgvs_c": "c.148G>C",
"hgvs_p": "p.Asp50His",
"transcript": "ENST00000548753.1",
"protein_id": "ENSP00000448945.1",
"transcript_support_level": 3,
"aa_start": 50,
"aa_end": null,
"aa_length": 89,
"cds_start": 148,
"cds_end": null,
"cds_length": 270,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000548753.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "COPZ1",
"gene_hgnc_id": 2243,
"hgvs_c": "c.226-1604G>C",
"hgvs_p": null,
"transcript": "ENST00000945183.1",
"protein_id": "ENSP00000615242.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 103,
"cds_start": null,
"cds_end": null,
"cds_length": 312,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945183.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "COPZ1",
"gene_hgnc_id": 2243,
"hgvs_c": "c.88-1604G>C",
"hgvs_p": null,
"transcript": "ENST00000912206.1",
"protein_id": "ENSP00000582265.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 57,
"cds_start": null,
"cds_end": null,
"cds_length": 174,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912206.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPZ1",
"gene_hgnc_id": 2243,
"hgvs_c": "n.377G>C",
"hgvs_p": null,
"transcript": "ENST00000548281.5",
"protein_id": null,
"transcript_support_level": 4,
"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": "ENST00000548281.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPZ1",
"gene_hgnc_id": 2243,
"hgvs_c": "n.*32G>C",
"hgvs_p": null,
"transcript": "ENST00000550171.5",
"protein_id": "ENSP00000448005.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000550171.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPZ1",
"gene_hgnc_id": 2243,
"hgvs_c": "n.*32G>C",
"hgvs_p": null,
"transcript": "ENST00000551962.5",
"protein_id": "ENSP00000447100.1",
"transcript_support_level": 5,
"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": "ENST00000551962.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPZ1",
"gene_hgnc_id": 2243,
"hgvs_c": "n.353G>C",
"hgvs_p": null,
"transcript": "NR_073424.2",
"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": "pseudogene",
"feature": "NR_073424.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPZ1",
"gene_hgnc_id": 2243,
"hgvs_c": "n.*32G>C",
"hgvs_p": null,
"transcript": "ENST00000550171.5",
"protein_id": "ENSP00000448005.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000550171.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPZ1",
"gene_hgnc_id": 2243,
"hgvs_c": "n.*32G>C",
"hgvs_p": null,
"transcript": "ENST00000551962.5",
"protein_id": "ENSP00000447100.1",
"transcript_support_level": 5,
"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": "ENST00000551962.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ENSG00000289854",
"gene_hgnc_id": null,
"hgvs_c": "n.538-197C>G",
"hgvs_p": null,
"transcript": "ENST00000796139.1",
"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": "pseudogene",
"feature": "ENST00000796139.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ENSG00000289854",
"gene_hgnc_id": null,
"hgvs_c": "n.409-197C>G",
"hgvs_p": null,
"transcript": "ENST00000796140.1",
"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": "pseudogene",
"feature": "ENST00000796140.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000289854",
"gene_hgnc_id": null,
"hgvs_c": "n.178-197C>G",
"hgvs_p": null,
"transcript": "ENST00000796148.1",
"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": "pseudogene",
"feature": "ENST00000796148.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000289854",
"gene_hgnc_id": null,
"hgvs_c": "n.332-197C>G",
"hgvs_p": null,
"transcript": "ENST00000796149.1",
"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": "pseudogene",
"feature": "ENST00000796149.1"
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPZ1",
"gene_hgnc_id": 2243,
"hgvs_c": "c.*176G>C",
"hgvs_p": null,
"transcript": "ENST00000550713.1",
"protein_id": "ENSP00000449072.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 137,
"cds_start": null,
"cds_end": null,
"cds_length": 415,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000550713.1"
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPZ1",
"gene_hgnc_id": 2243,
"hgvs_c": "n.*44G>C",
"hgvs_p": null,
"transcript": "ENST00000551412.5",
"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": "retained_intron",
"feature": "ENST00000551412.5"
}
],
"gene_symbol": "COPZ1",
"gene_hgnc_id": 2243,
"dbsnp": "rs778071914",
"frequency_reference_population": 0.000008209496,
"hom_count_reference_population": 0,
"allele_count_reference_population": 12,
"gnomad_exomes_af": 0.0000082095,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 12,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.924241304397583,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.737,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9427,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.48,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.257,
"phylop100way_prediction": "Pathogenic",
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001271736.2",
"gene_symbol": "COPZ1",
"hgnc_id": 2243,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.436G>C",
"hgvs_p": "p.Asp146His"
},
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000796139.1",
"gene_symbol": "ENSG00000289854",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.538-197C>G",
"hgvs_p": null
}
],
"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
}