← 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: 18-31074850-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=31074850&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 31074850,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000280904.11",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSC2",
"gene_hgnc_id": 3036,
"hgvs_c": "c.1721G>A",
"hgvs_p": "p.Ser574Asn",
"transcript": "NM_024422.6",
"protein_id": "NP_077740.1",
"transcript_support_level": null,
"aa_start": 574,
"aa_end": null,
"aa_length": 901,
"cds_start": 1721,
"cds_end": null,
"cds_length": 2706,
"cdna_start": 2171,
"cdna_end": null,
"cdna_length": 12331,
"mane_select": "ENST00000280904.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSC2",
"gene_hgnc_id": 3036,
"hgvs_c": "c.1721G>A",
"hgvs_p": "p.Ser574Asn",
"transcript": "ENST00000280904.11",
"protein_id": "ENSP00000280904.6",
"transcript_support_level": 1,
"aa_start": 574,
"aa_end": null,
"aa_length": 901,
"cds_start": 1721,
"cds_end": null,
"cds_length": 2706,
"cdna_start": 2171,
"cdna_end": null,
"cdna_length": 12331,
"mane_select": "NM_024422.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSC2",
"gene_hgnc_id": 3036,
"hgvs_c": "c.1721G>A",
"hgvs_p": "p.Ser574Asn",
"transcript": "ENST00000251081.8",
"protein_id": "ENSP00000251081.6",
"transcript_support_level": 1,
"aa_start": 574,
"aa_end": null,
"aa_length": 847,
"cds_start": 1721,
"cds_end": null,
"cds_length": 2544,
"cdna_start": 2171,
"cdna_end": null,
"cdna_length": 12377,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSC2",
"gene_hgnc_id": 3036,
"hgvs_c": "c.1721G>A",
"hgvs_p": "p.Ser574Asn",
"transcript": "ENST00000713707.1",
"protein_id": "ENSP00000519010.1",
"transcript_support_level": null,
"aa_start": 574,
"aa_end": null,
"aa_length": 908,
"cds_start": 1721,
"cds_end": null,
"cds_length": 2727,
"cdna_start": 2173,
"cdna_end": null,
"cdna_length": 5218,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSC2",
"gene_hgnc_id": 3036,
"hgvs_c": "c.1718G>A",
"hgvs_p": "p.Ser573Asn",
"transcript": "ENST00000713705.1",
"protein_id": "ENSP00000519008.1",
"transcript_support_level": null,
"aa_start": 573,
"aa_end": null,
"aa_length": 900,
"cds_start": 1718,
"cds_end": null,
"cds_length": 2703,
"cdna_start": 2110,
"cdna_end": null,
"cdna_length": 5134,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSC2",
"gene_hgnc_id": 3036,
"hgvs_c": "c.1712G>A",
"hgvs_p": "p.Ser571Asn",
"transcript": "ENST00000713702.1",
"protein_id": "ENSP00000519005.1",
"transcript_support_level": null,
"aa_start": 571,
"aa_end": null,
"aa_length": 898,
"cds_start": 1712,
"cds_end": null,
"cds_length": 2697,
"cdna_start": 2160,
"cdna_end": null,
"cdna_length": 5188,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSC2",
"gene_hgnc_id": 3036,
"hgvs_c": "c.1586G>A",
"hgvs_p": "p.Ser529Asn",
"transcript": "ENST00000713682.1",
"protein_id": "ENSP00000518985.1",
"transcript_support_level": null,
"aa_start": 529,
"aa_end": null,
"aa_length": 856,
"cds_start": 1586,
"cds_end": null,
"cds_length": 2571,
"cdna_start": 2047,
"cdna_end": null,
"cdna_length": 5071,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSC2",
"gene_hgnc_id": 3036,
"hgvs_c": "c.1721G>A",
"hgvs_p": "p.Ser574Asn",
"transcript": "ENST00000713704.1",
"protein_id": "ENSP00000519007.1",
"transcript_support_level": null,
"aa_start": 574,
"aa_end": null,
"aa_length": 853,
"cds_start": 1721,
"cds_end": null,
"cds_length": 2562,
"cdna_start": 1875,
"cdna_end": null,
"cdna_length": 4895,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSC2",
"gene_hgnc_id": 3036,
"hgvs_c": "c.1721G>A",
"hgvs_p": "p.Ser574Asn",
"transcript": "NM_004949.5",
"protein_id": "NP_004940.1",
"transcript_support_level": null,
"aa_start": 574,
"aa_end": null,
"aa_length": 847,
"cds_start": 1721,
"cds_end": null,
"cds_length": 2544,
"cdna_start": 2171,
"cdna_end": null,
"cdna_length": 12377,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSC2",
"gene_hgnc_id": 3036,
"hgvs_c": "c.1712G>A",
"hgvs_p": "p.Ser571Asn",
"transcript": "ENST00000713706.1",
"protein_id": "ENSP00000519009.1",
"transcript_support_level": null,
"aa_start": 571,
"aa_end": null,
"aa_length": 844,
"cds_start": 1712,
"cds_end": null,
"cds_length": 2535,
"cdna_start": 2160,
"cdna_end": null,
"cdna_length": 5230,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSC2",
"gene_hgnc_id": 3036,
"hgvs_c": "c.1721G>A",
"hgvs_p": "p.Ser574Asn",
"transcript": "ENST00000713722.1",
"protein_id": "ENSP00000519025.1",
"transcript_support_level": null,
"aa_start": 574,
"aa_end": null,
"aa_length": 839,
"cds_start": 1721,
"cds_end": null,
"cds_length": 2520,
"cdna_start": 2150,
"cdna_end": null,
"cdna_length": 5169,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSC2",
"gene_hgnc_id": 3036,
"hgvs_c": "c.1712G>A",
"hgvs_p": "p.Ser571Asn",
"transcript": "ENST00000713703.1",
"protein_id": "ENSP00000519006.1",
"transcript_support_level": null,
"aa_start": 571,
"aa_end": null,
"aa_length": 836,
"cds_start": 1712,
"cds_end": null,
"cds_length": 2511,
"cdna_start": 2165,
"cdna_end": null,
"cdna_length": 5188,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSC2",
"gene_hgnc_id": 3036,
"hgvs_c": "c.1292G>A",
"hgvs_p": "p.Ser431Asn",
"transcript": "NM_001406506.1",
"protein_id": "NP_001393435.1",
"transcript_support_level": null,
"aa_start": 431,
"aa_end": null,
"aa_length": 758,
"cds_start": 1292,
"cds_end": null,
"cds_length": 2277,
"cdna_start": 1692,
"cdna_end": null,
"cdna_length": 11852,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSC2",
"gene_hgnc_id": 3036,
"hgvs_c": "c.1292G>A",
"hgvs_p": "p.Ser431Asn",
"transcript": "ENST00000648081.1",
"protein_id": "ENSP00000497441.1",
"transcript_support_level": null,
"aa_start": 431,
"aa_end": null,
"aa_length": 758,
"cds_start": 1292,
"cds_end": null,
"cds_length": 2277,
"cdna_start": 1776,
"cdna_end": null,
"cdna_length": 4778,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSC2",
"gene_hgnc_id": 3036,
"hgvs_c": "c.1292G>A",
"hgvs_p": "p.Ser431Asn",
"transcript": "ENST00000682357.1",
"protein_id": "ENSP00000507826.1",
"transcript_support_level": null,
"aa_start": 431,
"aa_end": null,
"aa_length": 758,
"cds_start": 1292,
"cds_end": null,
"cds_length": 2277,
"cdna_start": 1720,
"cdna_end": null,
"cdna_length": 4722,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSC2",
"gene_hgnc_id": 3036,
"hgvs_c": "c.1292G>A",
"hgvs_p": "p.Ser431Asn",
"transcript": "ENST00000713681.1",
"protein_id": "ENSP00000518984.1",
"transcript_support_level": null,
"aa_start": 431,
"aa_end": null,
"aa_length": 758,
"cds_start": 1292,
"cds_end": null,
"cds_length": 2277,
"cdna_start": 1786,
"cdna_end": null,
"cdna_length": 4812,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSC2",
"gene_hgnc_id": 3036,
"hgvs_c": "c.1292G>A",
"hgvs_p": "p.Ser431Asn",
"transcript": "ENST00000713683.1",
"protein_id": "ENSP00000518986.1",
"transcript_support_level": null,
"aa_start": 431,
"aa_end": null,
"aa_length": 758,
"cds_start": 1292,
"cds_end": null,
"cds_length": 2277,
"cdna_start": 1678,
"cdna_end": null,
"cdna_length": 4702,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSC2",
"gene_hgnc_id": 3036,
"hgvs_c": "c.1292G>A",
"hgvs_p": "p.Ser431Asn",
"transcript": "ENST00000713685.1",
"protein_id": "ENSP00000518988.1",
"transcript_support_level": null,
"aa_start": 431,
"aa_end": null,
"aa_length": 758,
"cds_start": 1292,
"cds_end": null,
"cds_length": 2277,
"cdna_start": 1791,
"cdna_end": null,
"cdna_length": 12246,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSC2",
"gene_hgnc_id": 3036,
"hgvs_c": "c.1292G>A",
"hgvs_p": "p.Ser431Asn",
"transcript": "ENST00000713721.1",
"protein_id": "ENSP00000519024.1",
"transcript_support_level": null,
"aa_start": 431,
"aa_end": null,
"aa_length": 758,
"cds_start": 1292,
"cds_end": null,
"cds_length": 2277,
"cdna_start": 1697,
"cdna_end": null,
"cdna_length": 4721,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSC2",
"gene_hgnc_id": 3036,
"hgvs_c": "c.1292G>A",
"hgvs_p": "p.Ser431Asn",
"transcript": "ENST00000850650.1",
"protein_id": "ENSP00000518963.1",
"transcript_support_level": null,
"aa_start": 431,
"aa_end": null,
"aa_length": 758,
"cds_start": 1292,
"cds_end": null,
"cds_length": 2277,
"cdna_start": 1962,
"cdna_end": null,
"cdna_length": 4068,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSC2",
"gene_hgnc_id": 3036,
"hgvs_c": "c.1160G>A",
"hgvs_p": "p.Ser387Asn",
"transcript": "ENST00000713684.1",
"protein_id": "ENSP00000518987.1",
"transcript_support_level": null,
"aa_start": 387,
"aa_end": null,
"aa_length": 714,
"cds_start": 1160,
"cds_end": null,
"cds_length": 2145,
"cdna_start": 1647,
"cdna_end": null,
"cdna_length": 4607,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSC2",
"gene_hgnc_id": 3036,
"hgvs_c": "c.1292G>A",
"hgvs_p": "p.Ser431Asn",
"transcript": "NM_001406507.1",
"protein_id": "NP_001393436.1",
"transcript_support_level": null,
"aa_start": 431,
"aa_end": null,
"aa_length": 704,
"cds_start": 1292,
"cds_end": null,
"cds_length": 2115,
"cdna_start": 1692,
"cdna_end": null,
"cdna_length": 11898,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSC2",
"gene_hgnc_id": 3036,
"hgvs_c": "c.1292G>A",
"hgvs_p": "p.Ser431Asn",
"transcript": "ENST00000713709.1",
"protein_id": "ENSP00000519012.1",
"transcript_support_level": null,
"aa_start": 431,
"aa_end": null,
"aa_length": 704,
"cds_start": 1292,
"cds_end": null,
"cds_length": 2115,
"cdna_start": 1689,
"cdna_end": null,
"cdna_length": 4759,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSC2",
"gene_hgnc_id": 3036,
"hgvs_c": "n.*378G>A",
"hgvs_p": null,
"transcript": "ENST00000713708.1",
"protein_id": "ENSP00000519011.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4700,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSC2",
"gene_hgnc_id": 3036,
"hgvs_c": "n.*1344G>A",
"hgvs_p": null,
"transcript": "ENST00000850651.1",
"protein_id": "ENSP00000518989.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3003,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSC2",
"gene_hgnc_id": 3036,
"hgvs_c": "n.*378G>A",
"hgvs_p": null,
"transcript": "ENST00000713708.1",
"protein_id": "ENSP00000519011.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4700,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSC2",
"gene_hgnc_id": 3036,
"hgvs_c": "n.*1344G>A",
"hgvs_p": null,
"transcript": "ENST00000850651.1",
"protein_id": "ENSP00000518989.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3003,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "DSC2",
"gene_hgnc_id": 3036,
"hgvs_c": "c.1664-3009G>A",
"hgvs_p": null,
"transcript": "ENST00000713720.1",
"protein_id": "ENSP00000519023.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 772,
"cds_start": -4,
"cds_end": null,
"cds_length": 2319,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5029,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "DSC2",
"gene_hgnc_id": 3036,
"dbsnp": "rs150318400",
"frequency_reference_population": 0.000087371096,
"hom_count_reference_population": 0,
"allele_count_reference_population": 141,
"gnomad_exomes_af": 0.0000868817,
"gnomad_genomes_af": 0.0000920762,
"gnomad_exomes_ac": 127,
"gnomad_genomes_ac": 14,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.36196738481521606,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.126,
"revel_prediction": "Benign",
"alphamissense_score": 0.1501,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.61,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.421,
"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,BP6",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4",
"BP6"
],
"verdict": "Likely_benign",
"transcript": "ENST00000280904.11",
"gene_symbol": "DSC2",
"hgnc_id": 3036,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD,SD",
"hgvs_c": "c.1721G>A",
"hgvs_p": "p.Ser574Asn"
}
],
"clinvar_disease": "Arrhythmogenic right ventricular dysplasia 11,Cardiomyopathy,Cardiovascular phenotype,Familial isolated arrhythmogenic right ventricular dysplasia,not provided,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:6 LB:2",
"phenotype_combined": "not specified|not provided|Arrhythmogenic right ventricular dysplasia 11|Cardiomyopathy|Familial isolated arrhythmogenic right ventricular dysplasia|Cardiovascular phenotype",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}