← 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: 12-91146196-TG-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=91146196&ref=TG&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 91146196,
"ref": "TG",
"alt": "T",
"effect": "frameshift_variant",
"transcript": "NM_001920.5",
"consequences": [
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCN",
"gene_hgnc_id": 2705,
"hgvs_c": "c.941delC",
"hgvs_p": "p.Pro314fs",
"transcript": "NM_001920.5",
"protein_id": "NP_001911.1",
"transcript_support_level": null,
"aa_start": 314,
"aa_end": null,
"aa_length": 359,
"cds_start": 941,
"cds_end": null,
"cds_length": 1080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000052754.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001920.5"
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCN",
"gene_hgnc_id": 2705,
"hgvs_c": "c.941delC",
"hgvs_p": "p.Pro314fs",
"transcript": "ENST00000052754.10",
"protein_id": "ENSP00000052754.5",
"transcript_support_level": 1,
"aa_start": 314,
"aa_end": null,
"aa_length": 359,
"cds_start": 941,
"cds_end": null,
"cds_length": 1080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001920.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000052754.10"
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCN",
"gene_hgnc_id": 2705,
"hgvs_c": "c.614delC",
"hgvs_p": "p.Pro205fs",
"transcript": "ENST00000420120.6",
"protein_id": "ENSP00000413723.2",
"transcript_support_level": 1,
"aa_start": 205,
"aa_end": null,
"aa_length": 250,
"cds_start": 614,
"cds_end": null,
"cds_length": 753,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000420120.6"
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCN",
"gene_hgnc_id": 2705,
"hgvs_c": "c.500delC",
"hgvs_p": "p.Pro167fs",
"transcript": "ENST00000425043.5",
"protein_id": "ENSP00000401021.1",
"transcript_support_level": 1,
"aa_start": 167,
"aa_end": null,
"aa_length": 212,
"cds_start": 500,
"cds_end": null,
"cds_length": 639,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000425043.5"
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCN",
"gene_hgnc_id": 2705,
"hgvs_c": "c.380delC",
"hgvs_p": "p.Pro127fs",
"transcript": "ENST00000441303.6",
"protein_id": "ENSP00000399815.2",
"transcript_support_level": 1,
"aa_start": 127,
"aa_end": null,
"aa_length": 172,
"cds_start": 380,
"cds_end": null,
"cds_length": 519,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000441303.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"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": "DCN",
"gene_hgnc_id": 2705,
"hgvs_c": "n.*594delC",
"hgvs_p": null,
"transcript": "ENST00000393155.6",
"protein_id": "ENSP00000376862.2",
"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": "ENST00000393155.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCN",
"gene_hgnc_id": 2705,
"hgvs_c": "n.*594delC",
"hgvs_p": null,
"transcript": "ENST00000393155.6",
"protein_id": "ENSP00000376862.2",
"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": "ENST00000393155.6"
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCN",
"gene_hgnc_id": 2705,
"hgvs_c": "c.1025delC",
"hgvs_p": "p.Pro342fs",
"transcript": "ENST00000970672.1",
"protein_id": "ENSP00000640731.1",
"transcript_support_level": null,
"aa_start": 342,
"aa_end": null,
"aa_length": 387,
"cds_start": 1025,
"cds_end": null,
"cds_length": 1164,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970672.1"
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCN",
"gene_hgnc_id": 2705,
"hgvs_c": "c.941delC",
"hgvs_p": "p.Pro314fs",
"transcript": "NM_133503.4",
"protein_id": "NP_598010.1",
"transcript_support_level": null,
"aa_start": 314,
"aa_end": null,
"aa_length": 359,
"cds_start": 941,
"cds_end": null,
"cds_length": 1080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_133503.4"
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCN",
"gene_hgnc_id": 2705,
"hgvs_c": "c.941delC",
"hgvs_p": "p.Pro314fs",
"transcript": "ENST00000552962.5",
"protein_id": "ENSP00000447654.1",
"transcript_support_level": 5,
"aa_start": 314,
"aa_end": null,
"aa_length": 359,
"cds_start": 941,
"cds_end": null,
"cds_length": 1080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000552962.5"
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCN",
"gene_hgnc_id": 2705,
"hgvs_c": "c.941delC",
"hgvs_p": "p.Pro314fs",
"transcript": "ENST00000880701.1",
"protein_id": "ENSP00000550760.1",
"transcript_support_level": null,
"aa_start": 314,
"aa_end": null,
"aa_length": 359,
"cds_start": 941,
"cds_end": null,
"cds_length": 1080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880701.1"
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCN",
"gene_hgnc_id": 2705,
"hgvs_c": "c.941delC",
"hgvs_p": "p.Pro314fs",
"transcript": "ENST00000880702.1",
"protein_id": "ENSP00000550761.1",
"transcript_support_level": null,
"aa_start": 314,
"aa_end": null,
"aa_length": 359,
"cds_start": 941,
"cds_end": null,
"cds_length": 1080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880702.1"
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCN",
"gene_hgnc_id": 2705,
"hgvs_c": "c.941delC",
"hgvs_p": "p.Pro314fs",
"transcript": "ENST00000880703.1",
"protein_id": "ENSP00000550762.1",
"transcript_support_level": null,
"aa_start": 314,
"aa_end": null,
"aa_length": 359,
"cds_start": 941,
"cds_end": null,
"cds_length": 1080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880703.1"
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCN",
"gene_hgnc_id": 2705,
"hgvs_c": "c.941delC",
"hgvs_p": "p.Pro314fs",
"transcript": "ENST00000880704.1",
"protein_id": "ENSP00000550763.1",
"transcript_support_level": null,
"aa_start": 314,
"aa_end": null,
"aa_length": 359,
"cds_start": 941,
"cds_end": null,
"cds_length": 1080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880704.1"
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCN",
"gene_hgnc_id": 2705,
"hgvs_c": "c.941delC",
"hgvs_p": "p.Pro314fs",
"transcript": "ENST00000880705.1",
"protein_id": "ENSP00000550764.1",
"transcript_support_level": null,
"aa_start": 314,
"aa_end": null,
"aa_length": 359,
"cds_start": 941,
"cds_end": null,
"cds_length": 1080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880705.1"
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCN",
"gene_hgnc_id": 2705,
"hgvs_c": "c.941delC",
"hgvs_p": "p.Pro314fs",
"transcript": "ENST00000880706.1",
"protein_id": "ENSP00000550765.1",
"transcript_support_level": null,
"aa_start": 314,
"aa_end": null,
"aa_length": 359,
"cds_start": 941,
"cds_end": null,
"cds_length": 1080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880706.1"
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCN",
"gene_hgnc_id": 2705,
"hgvs_c": "c.941delC",
"hgvs_p": "p.Pro314fs",
"transcript": "ENST00000880707.1",
"protein_id": "ENSP00000550766.1",
"transcript_support_level": null,
"aa_start": 314,
"aa_end": null,
"aa_length": 359,
"cds_start": 941,
"cds_end": null,
"cds_length": 1080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880707.1"
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCN",
"gene_hgnc_id": 2705,
"hgvs_c": "c.941delC",
"hgvs_p": "p.Pro314fs",
"transcript": "ENST00000880708.1",
"protein_id": "ENSP00000550767.1",
"transcript_support_level": null,
"aa_start": 314,
"aa_end": null,
"aa_length": 359,
"cds_start": 941,
"cds_end": null,
"cds_length": 1080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880708.1"
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCN",
"gene_hgnc_id": 2705,
"hgvs_c": "c.941delC",
"hgvs_p": "p.Pro314fs",
"transcript": "ENST00000880710.1",
"protein_id": "ENSP00000550769.1",
"transcript_support_level": null,
"aa_start": 314,
"aa_end": null,
"aa_length": 359,
"cds_start": 941,
"cds_end": null,
"cds_length": 1080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880710.1"
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCN",
"gene_hgnc_id": 2705,
"hgvs_c": "c.941delC",
"hgvs_p": "p.Pro314fs",
"transcript": "ENST00000970669.1",
"protein_id": "ENSP00000640728.1",
"transcript_support_level": null,
"aa_start": 314,
"aa_end": null,
"aa_length": 359,
"cds_start": 941,
"cds_end": null,
"cds_length": 1080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970669.1"
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCN",
"gene_hgnc_id": 2705,
"hgvs_c": "c.941delC",
"hgvs_p": "p.Pro314fs",
"transcript": "ENST00000970670.1",
"protein_id": "ENSP00000640729.1",
"transcript_support_level": null,
"aa_start": 314,
"aa_end": null,
"aa_length": 359,
"cds_start": 941,
"cds_end": null,
"cds_length": 1080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970670.1"
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCN",
"gene_hgnc_id": 2705,
"hgvs_c": "c.941delC",
"hgvs_p": "p.Pro314fs",
"transcript": "ENST00000970671.1",
"protein_id": "ENSP00000640730.1",
"transcript_support_level": null,
"aa_start": 314,
"aa_end": null,
"aa_length": 359,
"cds_start": 941,
"cds_end": null,
"cds_length": 1080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970671.1"
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCN",
"gene_hgnc_id": 2705,
"hgvs_c": "c.851delC",
"hgvs_p": "p.Pro284fs",
"transcript": "ENST00000880709.1",
"protein_id": "ENSP00000550768.1",
"transcript_support_level": null,
"aa_start": 284,
"aa_end": null,
"aa_length": 329,
"cds_start": 851,
"cds_end": null,
"cds_length": 990,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880709.1"
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCN",
"gene_hgnc_id": 2705,
"hgvs_c": "c.851delC",
"hgvs_p": "p.Pro284fs",
"transcript": "ENST00000970668.1",
"protein_id": "ENSP00000640727.1",
"transcript_support_level": null,
"aa_start": 284,
"aa_end": null,
"aa_length": 329,
"cds_start": 851,
"cds_end": null,
"cds_length": 990,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970668.1"
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCN",
"gene_hgnc_id": 2705,
"hgvs_c": "c.614delC",
"hgvs_p": "p.Pro205fs",
"transcript": "NM_133504.3",
"protein_id": "NP_598011.1",
"transcript_support_level": null,
"aa_start": 205,
"aa_end": null,
"aa_length": 250,
"cds_start": 614,
"cds_end": null,
"cds_length": 753,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_133504.3"
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCN",
"gene_hgnc_id": 2705,
"hgvs_c": "c.500delC",
"hgvs_p": "p.Pro167fs",
"transcript": "NM_133505.3",
"protein_id": "NP_598012.1",
"transcript_support_level": null,
"aa_start": 167,
"aa_end": null,
"aa_length": 212,
"cds_start": 500,
"cds_end": null,
"cds_length": 639,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_133505.3"
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCN",
"gene_hgnc_id": 2705,
"hgvs_c": "c.500delC",
"hgvs_p": "p.Pro167fs",
"transcript": "ENST00000547568.6",
"protein_id": "ENSP00000447674.2",
"transcript_support_level": 3,
"aa_start": 167,
"aa_end": null,
"aa_length": 212,
"cds_start": 500,
"cds_end": null,
"cds_length": 639,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000547568.6"
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCN",
"gene_hgnc_id": 2705,
"hgvs_c": "c.500delC",
"hgvs_p": "p.Pro167fs",
"transcript": "ENST00000546391.5",
"protein_id": "ENSP00000446530.1",
"transcript_support_level": 3,
"aa_start": 167,
"aa_end": null,
"aa_length": 176,
"cds_start": 500,
"cds_end": null,
"cds_length": 531,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000546391.5"
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCN",
"gene_hgnc_id": 2705,
"hgvs_c": "c.380delC",
"hgvs_p": "p.Pro127fs",
"transcript": "NM_133506.3",
"protein_id": "NP_598013.1",
"transcript_support_level": null,
"aa_start": 127,
"aa_end": null,
"aa_length": 172,
"cds_start": 380,
"cds_end": null,
"cds_length": 519,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_133506.3"
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCN",
"gene_hgnc_id": 2705,
"hgvs_c": "c.11delC",
"hgvs_p": "p.Pro4fs",
"transcript": "ENST00000548218.1",
"protein_id": "ENSP00000448853.1",
"transcript_support_level": 2,
"aa_start": 4,
"aa_end": null,
"aa_length": 51,
"cds_start": 11,
"cds_end": null,
"cds_length": 156,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000548218.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCN",
"gene_hgnc_id": 2705,
"hgvs_c": "c.*39delC",
"hgvs_p": null,
"transcript": "NM_133507.3",
"protein_id": "NP_598014.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 75,
"cds_start": null,
"cds_end": null,
"cds_length": 228,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_133507.3"
},
{
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCN",
"gene_hgnc_id": 2705,
"hgvs_c": "c.*39delC",
"hgvs_p": null,
"transcript": "ENST00000456569.2",
"protein_id": "ENSP00000398514.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 75,
"cds_start": null,
"cds_end": null,
"cds_length": 228,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000456569.2"
}
],
"gene_symbol": "DCN",
"gene_hgnc_id": 2705,
"dbsnp": "rs80338742",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"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": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 6.714,
"phylop100way_prediction": "Uncertain_significance",
"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": 7,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PVS1_Strong,PM2,PP5",
"acmg_by_gene": [
{
"score": 7,
"benign_score": 0,
"pathogenic_score": 7,
"criteria": [
"PVS1_Strong",
"PM2",
"PP5"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_001920.5",
"gene_symbol": "DCN",
"hgnc_id": 2705,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.941delC",
"hgvs_p": "p.Pro314fs"
}
],
"clinvar_disease": "Congenital stromal corneal dystrophy",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "O:1",
"phenotype_combined": "Congenital stromal corneal dystrophy",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}