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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: 6-56459141-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=56459141&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 56459141,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001374736.1",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 104,
"exon_rank_end": null,
"exon_count": 104,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DST",
"gene_hgnc_id": 1090,
"hgvs_c": "c.23321A>C",
"hgvs_p": "p.Asp7774Ala",
"transcript": "NM_001374736.1",
"protein_id": "NP_001361665.1",
"transcript_support_level": null,
"aa_start": 7774,
"aa_end": null,
"aa_length": 7818,
"cds_start": 23321,
"cds_end": null,
"cds_length": 23457,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000680361.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001374736.1"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 104,
"exon_rank_end": null,
"exon_count": 104,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DST",
"gene_hgnc_id": 1090,
"hgvs_c": "c.23321A>C",
"hgvs_p": "p.Asp7774Ala",
"transcript": "ENST00000680361.1",
"protein_id": "ENSP00000505098.1",
"transcript_support_level": null,
"aa_start": 7774,
"aa_end": null,
"aa_length": 7818,
"cds_start": 23321,
"cds_end": null,
"cds_length": 23457,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001374736.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000680361.1"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 84,
"exon_rank_end": null,
"exon_count": 84,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DST",
"gene_hgnc_id": 1090,
"hgvs_c": "c.15380A>C",
"hgvs_p": "p.Asp5127Ala",
"transcript": "ENST00000244364.10",
"protein_id": "ENSP00000244364.6",
"transcript_support_level": 1,
"aa_start": 5127,
"aa_end": null,
"aa_length": 5171,
"cds_start": 15380,
"cds_end": null,
"cds_length": 15516,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000244364.10"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DST",
"gene_hgnc_id": 1090,
"hgvs_c": "c.641A>C",
"hgvs_p": "p.Asp214Ala",
"transcript": "ENST00000523292.5",
"protein_id": "ENSP00000431020.1",
"transcript_support_level": 1,
"aa_start": 214,
"aa_end": null,
"aa_length": 258,
"cds_start": 641,
"cds_end": null,
"cds_length": 777,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000523292.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DST",
"gene_hgnc_id": 1090,
"hgvs_c": "n.1961A>C",
"hgvs_p": null,
"transcript": "ENST00000482156.5",
"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": "ENST00000482156.5"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 103,
"exon_rank_end": null,
"exon_count": 103,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DST",
"gene_hgnc_id": 1090,
"hgvs_c": "c.23276A>C",
"hgvs_p": "p.Asp7759Ala",
"transcript": "NM_001374734.1",
"protein_id": "NP_001361663.1",
"transcript_support_level": null,
"aa_start": 7759,
"aa_end": null,
"aa_length": 7803,
"cds_start": 23276,
"cds_end": null,
"cds_length": 23412,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001374734.1"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 103,
"exon_rank_end": null,
"exon_count": 103,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DST",
"gene_hgnc_id": 1090,
"hgvs_c": "c.23249A>C",
"hgvs_p": "p.Asp7750Ala",
"transcript": "NM_001374722.1",
"protein_id": "NP_001361651.1",
"transcript_support_level": null,
"aa_start": 7750,
"aa_end": null,
"aa_length": 7794,
"cds_start": 23249,
"cds_end": null,
"cds_length": 23385,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001374722.1"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 98,
"exon_rank_end": null,
"exon_count": 98,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DST",
"gene_hgnc_id": 1090,
"hgvs_c": "c.22250A>C",
"hgvs_p": "p.Asp7417Ala",
"transcript": "NM_001374729.1",
"protein_id": "NP_001361658.1",
"transcript_support_level": null,
"aa_start": 7417,
"aa_end": null,
"aa_length": 7461,
"cds_start": 22250,
"cds_end": null,
"cds_length": 22386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001374729.1"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 98,
"exon_rank_end": null,
"exon_count": 98,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DST",
"gene_hgnc_id": 1090,
"hgvs_c": "c.22250A>C",
"hgvs_p": "p.Asp7417Ala",
"transcript": "ENST00000361203.7",
"protein_id": "ENSP00000354508.3",
"transcript_support_level": 5,
"aa_start": 7417,
"aa_end": null,
"aa_length": 7461,
"cds_start": 22250,
"cds_end": null,
"cds_length": 22386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000361203.7"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 97,
"exon_rank_end": null,
"exon_count": 97,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DST",
"gene_hgnc_id": 1090,
"hgvs_c": "c.16892A>C",
"hgvs_p": "p.Asp5631Ala",
"transcript": "NM_001144769.5",
"protein_id": "NP_001138241.1",
"transcript_support_level": null,
"aa_start": 5631,
"aa_end": null,
"aa_length": 5675,
"cds_start": 16892,
"cds_end": null,
"cds_length": 17028,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001144769.5"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 95,
"exon_rank_end": null,
"exon_count": 95,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DST",
"gene_hgnc_id": 1090,
"hgvs_c": "c.16547A>C",
"hgvs_p": "p.Asp5516Ala",
"transcript": "ENST00000449297.7",
"protein_id": "ENSP00000393082.3",
"transcript_support_level": 5,
"aa_start": 5516,
"aa_end": null,
"aa_length": 5560,
"cds_start": 16547,
"cds_end": null,
"cds_length": 16683,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000449297.7"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 95,
"exon_rank_end": null,
"exon_count": 95,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DST",
"gene_hgnc_id": 1090,
"hgvs_c": "c.16478A>C",
"hgvs_p": "p.Asp5493Ala",
"transcript": "NM_001144770.2",
"protein_id": "NP_001138242.1",
"transcript_support_level": null,
"aa_start": 5493,
"aa_end": null,
"aa_length": 5537,
"cds_start": 16478,
"cds_end": null,
"cds_length": 16614,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001144770.2"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 95,
"exon_rank_end": null,
"exon_count": 95,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DST",
"gene_hgnc_id": 1090,
"hgvs_c": "c.16478A>C",
"hgvs_p": "p.Asp5493Ala",
"transcript": "ENST00000312431.10",
"protein_id": "ENSP00000307959.7",
"transcript_support_level": 5,
"aa_start": 5493,
"aa_end": null,
"aa_length": 5537,
"cds_start": 16478,
"cds_end": null,
"cds_length": 16614,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000312431.10"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 94,
"exon_rank_end": null,
"exon_count": 94,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DST",
"gene_hgnc_id": 1090,
"hgvs_c": "c.16358A>C",
"hgvs_p": "p.Asp5453Ala",
"transcript": "NM_183380.4",
"protein_id": "NP_899236.1",
"transcript_support_level": null,
"aa_start": 5453,
"aa_end": null,
"aa_length": 5497,
"cds_start": 16358,
"cds_end": null,
"cds_length": 16494,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_183380.4"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 94,
"exon_rank_end": null,
"exon_count": 94,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DST",
"gene_hgnc_id": 1090,
"hgvs_c": "c.16358A>C",
"hgvs_p": "p.Asp5453Ala",
"transcript": "ENST00000421834.7",
"protein_id": "ENSP00000400883.3",
"transcript_support_level": 5,
"aa_start": 5453,
"aa_end": null,
"aa_length": 5497,
"cds_start": 16358,
"cds_end": null,
"cds_length": 16494,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000421834.7"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 93,
"exon_rank_end": null,
"exon_count": 93,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DST",
"gene_hgnc_id": 1090,
"hgvs_c": "c.16340A>C",
"hgvs_p": "p.Asp5447Ala",
"transcript": "NM_001386100.1",
"protein_id": "NP_001373029.1",
"transcript_support_level": null,
"aa_start": 5447,
"aa_end": null,
"aa_length": 5491,
"cds_start": 16340,
"cds_end": null,
"cds_length": 16476,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001386100.1"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 93,
"exon_rank_end": null,
"exon_count": 93,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DST",
"gene_hgnc_id": 1090,
"hgvs_c": "c.16133A>C",
"hgvs_p": "p.Asp5378Ala",
"transcript": "ENST00000520645.6",
"protein_id": "ENSP00000431030.2",
"transcript_support_level": 2,
"aa_start": 5378,
"aa_end": null,
"aa_length": 5422,
"cds_start": 16133,
"cds_end": null,
"cds_length": 16269,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000520645.6"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 93,
"exon_rank_end": null,
"exon_count": 93,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DST",
"gene_hgnc_id": 1090,
"hgvs_c": "c.15992A>C",
"hgvs_p": "p.Asp5331Ala",
"transcript": "NM_001374730.1",
"protein_id": "NP_001361659.1",
"transcript_support_level": null,
"aa_start": 5331,
"aa_end": null,
"aa_length": 5375,
"cds_start": 15992,
"cds_end": null,
"cds_length": 16128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001374730.1"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 93,
"exon_rank_end": null,
"exon_count": 93,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DST",
"gene_hgnc_id": 1090,
"hgvs_c": "c.15992A>C",
"hgvs_p": "p.Asp5331Ala",
"transcript": "ENST00000370788.6",
"protein_id": "ENSP00000359824.2",
"transcript_support_level": 5,
"aa_start": 5331,
"aa_end": null,
"aa_length": 5375,
"cds_start": 15992,
"cds_end": null,
"cds_length": 16128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000370788.6"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 84,
"exon_rank_end": null,
"exon_count": 84,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DST",
"gene_hgnc_id": 1090,
"hgvs_c": "c.15380A>C",
"hgvs_p": "p.Asp5127Ala",
"transcript": "NM_015548.5",
"protein_id": "NP_056363.2",
"transcript_support_level": null,
"aa_start": 5127,
"aa_end": null,
"aa_length": 5171,
"cds_start": 15380,
"cds_end": null,
"cds_length": 15516,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015548.5"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DST",
"gene_hgnc_id": 1090,
"hgvs_c": "c.7895A>C",
"hgvs_p": "p.Asp2632Ala",
"transcript": "ENST00000340834.10",
"protein_id": "ENSP00000489032.2",
"transcript_support_level": 2,
"aa_start": 2632,
"aa_end": null,
"aa_length": 2676,
"cds_start": 7895,
"cds_end": null,
"cds_length": 8031,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000340834.10"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DST",
"gene_hgnc_id": 1090,
"hgvs_c": "c.3905A>C",
"hgvs_p": "p.Asp1302Ala",
"transcript": "ENST00000651790.1",
"protein_id": "ENSP00000498389.1",
"transcript_support_level": null,
"aa_start": 1302,
"aa_end": null,
"aa_length": 1346,
"cds_start": 3905,
"cds_end": null,
"cds_length": 4041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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{
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{
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{
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{
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{
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],
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"biotype": "pseudogene",
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],
"gene_symbol": "DST",
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"dbsnp": "rs771266784",
"frequency_reference_population": 0.000017103326,
"hom_count_reference_population": 0,
"allele_count_reference_population": 25,
"gnomad_exomes_af": 0.0000171033,
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"gnomad_exomes_ac": 25,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
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"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.4123207926750183,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.541,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.6822,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.1,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 8.017,
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
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"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001374736.1",
"gene_symbol": "DST",
"hgnc_id": 1090,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.23321A>C",
"hgvs_p": "p.Asp7774Ala"
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],
"clinvar_disease": " localized or generalized intermediate, with BP230 deficiency,Epidermolysis bullosa simplex 3,Hereditary sensory and autonomic neuropathy type 6",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency;Hereditary sensory and autonomic neuropathy type 6",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}