← 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: 6-56642764-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=56642764&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 56642764,
"ref": "G",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000680361.1",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DST",
"gene_hgnc_id": 1090,
"hgvs_c": "c.25C>T",
"hgvs_p": "p.Arg9Cys",
"transcript": "NM_001723.7",
"protein_id": "NP_001714.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 2649,
"cds_start": 25,
"cds_end": null,
"cds_length": 7950,
"cdna_start": 126,
"cdna_end": null,
"cdna_length": 8971,
"mane_select": null,
"mane_plus": "ENST00000370765.11",
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DST",
"gene_hgnc_id": 1090,
"hgvs_c": "c.25C>T",
"hgvs_p": "p.Arg9Cys",
"transcript": "ENST00000370765.11",
"protein_id": "ENSP00000359801.6",
"transcript_support_level": 1,
"aa_start": 9,
"aa_end": null,
"aa_length": 2649,
"cds_start": 25,
"cds_end": null,
"cds_length": 7950,
"cdna_start": 126,
"cdna_end": null,
"cdna_length": 8971,
"mane_select": null,
"mane_plus": "NM_001723.7",
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 84,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DST",
"gene_hgnc_id": 1090,
"hgvs_c": "c.25C>T",
"hgvs_p": "p.Arg9Cys",
"transcript": "ENST00000244364.10",
"protein_id": "ENSP00000244364.6",
"transcript_support_level": 1,
"aa_start": 9,
"aa_end": null,
"aa_length": 5171,
"cds_start": 25,
"cds_end": null,
"cds_length": 15516,
"cdna_start": 233,
"cdna_end": null,
"cdna_length": 16742,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DST",
"gene_hgnc_id": 1090,
"hgvs_c": "c.25C>T",
"hgvs_p": "p.Arg9Cys",
"transcript": "ENST00000439203.5",
"protein_id": "ENSP00000404924.1",
"transcript_support_level": 1,
"aa_start": 9,
"aa_end": null,
"aa_length": 3059,
"cds_start": 25,
"cds_end": null,
"cds_length": 9180,
"cdna_start": 25,
"cdna_end": null,
"cdna_length": 9180,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DST",
"gene_hgnc_id": 1090,
"hgvs_c": "c.25C>T",
"hgvs_p": "p.Arg9Cys",
"transcript": "ENST00000518935.5",
"protein_id": "ENSP00000431003.1",
"transcript_support_level": 1,
"aa_start": 9,
"aa_end": null,
"aa_length": 1143,
"cds_start": 25,
"cds_end": null,
"cds_length": 3432,
"cdna_start": 97,
"cdna_end": null,
"cdna_length": 3547,
"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": 104,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "DST",
"gene_hgnc_id": 1090,
"hgvs_c": "c.1779-261C>T",
"hgvs_p": null,
"transcript": "NM_001374736.1",
"protein_id": "NP_001361665.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 7818,
"cds_start": -4,
"cds_end": null,
"cds_length": 23457,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 24709,
"mane_select": "ENST00000680361.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 104,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "DST",
"gene_hgnc_id": 1090,
"hgvs_c": "c.1779-261C>T",
"hgvs_p": null,
"transcript": "ENST00000680361.1",
"protein_id": "ENSP00000505098.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 7818,
"cds_start": -4,
"cds_end": null,
"cds_length": 23457,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 24709,
"mane_select": "NM_001374736.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 84,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DST",
"gene_hgnc_id": 1090,
"hgvs_c": "c.25C>T",
"hgvs_p": "p.Arg9Cys",
"transcript": "NM_015548.5",
"protein_id": "NP_056363.2",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 5171,
"cds_start": 25,
"cds_end": null,
"cds_length": 15516,
"cdna_start": 126,
"cdna_end": null,
"cdna_length": 16626,
"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": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DST",
"gene_hgnc_id": 1090,
"hgvs_c": "n.126C>T",
"hgvs_p": null,
"transcript": "ENST00000518828.1",
"protein_id": null,
"transcript_support_level": 4,
"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": 585,
"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": 103,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "DST",
"gene_hgnc_id": 1090,
"hgvs_c": "c.1806-261C>T",
"hgvs_p": null,
"transcript": "NM_001374734.1",
"protein_id": "NP_001361663.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 7803,
"cds_start": -4,
"cds_end": null,
"cds_length": 23412,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 24664,
"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": 103,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "DST",
"gene_hgnc_id": 1090,
"hgvs_c": "c.1779-261C>T",
"hgvs_p": null,
"transcript": "NM_001374722.1",
"protein_id": "NP_001361651.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 7794,
"cds_start": -4,
"cds_end": null,
"cds_length": 23385,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 24637,
"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": 98,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "DST",
"gene_hgnc_id": 1090,
"hgvs_c": "c.1146-261C>T",
"hgvs_p": null,
"transcript": "NM_001374729.1",
"protein_id": "NP_001361658.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 7461,
"cds_start": -4,
"cds_end": null,
"cds_length": 22386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 23897,
"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": 98,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "DST",
"gene_hgnc_id": 1090,
"hgvs_c": "c.1146-261C>T",
"hgvs_p": null,
"transcript": "ENST00000361203.7",
"protein_id": "ENSP00000354508.3",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 7461,
"cds_start": -4,
"cds_end": null,
"cds_length": 22386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 22431,
"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": 97,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "DST",
"gene_hgnc_id": 1090,
"hgvs_c": "c.1680-261C>T",
"hgvs_p": null,
"transcript": "NM_001144769.5",
"protein_id": "NP_001138241.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 5675,
"cds_start": -4,
"cds_end": null,
"cds_length": 17028,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 18280,
"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": 95,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "DST",
"gene_hgnc_id": 1090,
"hgvs_c": "c.1680-261C>T",
"hgvs_p": null,
"transcript": "ENST00000449297.7",
"protein_id": "ENSP00000393082.3",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 5560,
"cds_start": -4,
"cds_end": null,
"cds_length": 16683,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 17777,
"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": 95,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "DST",
"gene_hgnc_id": 1090,
"hgvs_c": "c.1266-261C>T",
"hgvs_p": null,
"transcript": "NM_001144770.2",
"protein_id": "NP_001138242.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 5537,
"cds_start": -4,
"cds_end": null,
"cds_length": 16614,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 17738,
"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": 95,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "DST",
"gene_hgnc_id": 1090,
"hgvs_c": "c.1266-261C>T",
"hgvs_p": null,
"transcript": "ENST00000312431.10",
"protein_id": "ENSP00000307959.7",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 5537,
"cds_start": -4,
"cds_end": null,
"cds_length": 16614,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 17756,
"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": 94,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "DST",
"gene_hgnc_id": 1090,
"hgvs_c": "c.1146-261C>T",
"hgvs_p": null,
"transcript": "NM_183380.4",
"protein_id": "NP_899236.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 5497,
"cds_start": -4,
"cds_end": null,
"cds_length": 16494,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 18005,
"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": 94,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "DST",
"gene_hgnc_id": 1090,
"hgvs_c": "c.1146-261C>T",
"hgvs_p": null,
"transcript": "ENST00000421834.7",
"protein_id": "ENSP00000400883.3",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 5497,
"cds_start": -4,
"cds_end": null,
"cds_length": 16494,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 18005,
"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": 93,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "DST",
"gene_hgnc_id": 1090,
"hgvs_c": "c.1146-261C>T",
"hgvs_p": null,
"transcript": "NM_001386100.1",
"protein_id": "NP_001373029.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 5491,
"cds_start": -4,
"cds_end": null,
"cds_length": 16476,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 17987,
"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": 93,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "DST",
"gene_hgnc_id": 1090,
"hgvs_c": "c.1266-261C>T",
"hgvs_p": null,
"transcript": "ENST00000520645.6",
"protein_id": "ENSP00000431030.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 5422,
"cds_start": -4,
"cds_end": null,
"cds_length": 16269,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 17436,
"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": 93,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "DST",
"gene_hgnc_id": 1090,
"hgvs_c": "c.1146-261C>T",
"hgvs_p": null,
"transcript": "NM_001374730.1",
"protein_id": "NP_001361659.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 5375,
"cds_start": -4,
"cds_end": null,
"cds_length": 16128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 17639,
"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": 93,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "DST",
"gene_hgnc_id": 1090,
"hgvs_c": "c.1146-261C>T",
"hgvs_p": null,
"transcript": "ENST00000370788.6",
"protein_id": "ENSP00000359824.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 5375,
"cds_start": -4,
"cds_end": null,
"cds_length": 16128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 17657,
"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": 40,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "DST",
"gene_hgnc_id": 1090,
"hgvs_c": "c.1494-261C>T",
"hgvs_p": null,
"transcript": "ENST00000652573.1",
"protein_id": "ENSP00000498983.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2382,
"cds_start": -4,
"cds_end": null,
"cds_length": 7151,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7305,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 14,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "DST",
"gene_hgnc_id": 1090,
"hgvs_c": "n.1648-261C>T",
"hgvs_p": null,
"transcript": "ENST00000521104.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 3156,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 18,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "DST",
"gene_hgnc_id": 1090,
"hgvs_c": "n.1376-261C>T",
"hgvs_p": null,
"transcript": "ENST00000523967.5",
"protein_id": null,
"transcript_support_level": 2,
"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": 2904,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "DST",
"gene_hgnc_id": 1090,
"dbsnp": "rs75671065",
"frequency_reference_population": 0.0023190773,
"hom_count_reference_population": 18,
"allele_count_reference_population": 3743,
"gnomad_exomes_af": 0.00233692,
"gnomad_genomes_af": 0.00214776,
"gnomad_exomes_ac": 3416,
"gnomad_genomes_ac": 327,
"gnomad_exomes_homalt": 16,
"gnomad_genomes_homalt": 2,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.00861629843711853,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.131,
"revel_prediction": "Benign",
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.2,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.229,
"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": -13,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6,BS1,BS2",
"acmg_by_gene": [
{
"score": -13,
"benign_score": 13,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000680361.1",
"gene_symbol": "DST",
"hgnc_id": 1090,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1779-261C>T",
"hgvs_p": null
}
],
"clinvar_disease": " localized or generalized intermediate, with BP230 deficiency,Epidermolysis bullosa simplex 3,Hereditary sensory and autonomic neuropathy type 6,Multiple sclerosis,not provided",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:2 B:1",
"phenotype_combined": "Hereditary sensory and autonomic neuropathy type 6|Hereditary sensory and autonomic neuropathy type 6;Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency|not provided|Multiple sclerosis",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}