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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: 18-49044061-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=49044061&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 49044061,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "NM_001353214.3",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYM",
"gene_hgnc_id": 21317,
"hgvs_c": "c.2169C>T",
"hgvs_p": "p.Ser723Ser",
"transcript": "NM_001353214.3",
"protein_id": "NP_001340143.1",
"transcript_support_level": null,
"aa_start": 723,
"aa_end": null,
"aa_length": 724,
"cds_start": 2169,
"cds_end": null,
"cds_length": 2175,
"cdna_start": 2470,
"cdna_end": null,
"cdna_length": 10144,
"mane_select": "ENST00000675505.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYM",
"gene_hgnc_id": 21317,
"hgvs_c": "c.2169C>T",
"hgvs_p": "p.Ser723Ser",
"transcript": "ENST00000675505.1",
"protein_id": "ENSP00000501694.1",
"transcript_support_level": null,
"aa_start": 723,
"aa_end": null,
"aa_length": 724,
"cds_start": 2169,
"cds_end": null,
"cds_length": 2175,
"cdna_start": 2470,
"cdna_end": null,
"cdna_length": 10144,
"mane_select": "NM_001353214.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYM",
"gene_hgnc_id": 21317,
"hgvs_c": "c.2004C>T",
"hgvs_p": "p.Ser668Ser",
"transcript": "ENST00000269445.10",
"protein_id": "ENSP00000269445.6",
"transcript_support_level": 1,
"aa_start": 668,
"aa_end": null,
"aa_length": 669,
"cds_start": 2004,
"cds_end": null,
"cds_length": 2010,
"cdna_start": 2462,
"cdna_end": null,
"cdna_length": 5049,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYM",
"gene_hgnc_id": 21317,
"hgvs_c": "c.2122C>T",
"hgvs_p": "p.Arg708*",
"transcript": "XM_011526036.3",
"protein_id": "XP_011524338.1",
"transcript_support_level": null,
"aa_start": 708,
"aa_end": null,
"aa_length": 745,
"cds_start": 2122,
"cds_end": null,
"cds_length": 2238,
"cdna_start": 2423,
"cdna_end": null,
"cdna_length": 10097,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYM",
"gene_hgnc_id": 21317,
"hgvs_c": "c.2119C>T",
"hgvs_p": "p.Arg707*",
"transcript": "XM_011526037.2",
"protein_id": "XP_011524339.1",
"transcript_support_level": null,
"aa_start": 707,
"aa_end": null,
"aa_length": 744,
"cds_start": 2119,
"cds_end": null,
"cds_length": 2235,
"cdna_start": 2420,
"cdna_end": null,
"cdna_length": 10094,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYM",
"gene_hgnc_id": 21317,
"hgvs_c": "c.2119C>T",
"hgvs_p": "p.Arg707*",
"transcript": "XM_011526038.3",
"protein_id": "XP_011524340.1",
"transcript_support_level": null,
"aa_start": 707,
"aa_end": null,
"aa_length": 744,
"cds_start": 2119,
"cds_end": null,
"cds_length": 2235,
"cdna_start": 2420,
"cdna_end": null,
"cdna_length": 10094,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYM",
"gene_hgnc_id": 21317,
"hgvs_c": "c.2116C>T",
"hgvs_p": "p.Arg706*",
"transcript": "XM_017025795.2",
"protein_id": "XP_016881284.1",
"transcript_support_level": null,
"aa_start": 706,
"aa_end": null,
"aa_length": 743,
"cds_start": 2116,
"cds_end": null,
"cds_length": 2232,
"cdna_start": 2417,
"cdna_end": null,
"cdna_length": 10091,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYM",
"gene_hgnc_id": 21317,
"hgvs_c": "c.1939C>T",
"hgvs_p": "p.Arg647*",
"transcript": "XM_011526041.3",
"protein_id": "XP_011524343.1",
"transcript_support_level": null,
"aa_start": 647,
"aa_end": null,
"aa_length": 684,
"cds_start": 1939,
"cds_end": null,
"cds_length": 2055,
"cdna_start": 2240,
"cdna_end": null,
"cdna_length": 9914,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYM",
"gene_hgnc_id": 21317,
"hgvs_c": "c.2169C>T",
"hgvs_p": "p.Ser723Ser",
"transcript": "NM_001374428.1",
"protein_id": "NP_001361357.1",
"transcript_support_level": null,
"aa_start": 723,
"aa_end": null,
"aa_length": 724,
"cds_start": 2169,
"cds_end": null,
"cds_length": 2175,
"cdna_start": 2728,
"cdna_end": null,
"cdna_length": 10402,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYM",
"gene_hgnc_id": 21317,
"hgvs_c": "c.2166C>T",
"hgvs_p": "p.Ser722Ser",
"transcript": "NM_001353212.3",
"protein_id": "NP_001340141.1",
"transcript_support_level": null,
"aa_start": 722,
"aa_end": null,
"aa_length": 723,
"cds_start": 2166,
"cds_end": null,
"cds_length": 2172,
"cdna_start": 2467,
"cdna_end": null,
"cdna_length": 10141,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYM",
"gene_hgnc_id": 21317,
"hgvs_c": "c.2166C>T",
"hgvs_p": "p.Ser722Ser",
"transcript": "NM_001353213.3",
"protein_id": "NP_001340142.1",
"transcript_support_level": null,
"aa_start": 722,
"aa_end": null,
"aa_length": 723,
"cds_start": 2166,
"cds_end": null,
"cds_length": 2172,
"cdna_start": 2467,
"cdna_end": null,
"cdna_length": 10141,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYM",
"gene_hgnc_id": 21317,
"hgvs_c": "c.2163C>T",
"hgvs_p": "p.Ser721Ser",
"transcript": "NM_001374429.1",
"protein_id": "NP_001361358.1",
"transcript_support_level": null,
"aa_start": 721,
"aa_end": null,
"aa_length": 722,
"cds_start": 2163,
"cds_end": null,
"cds_length": 2169,
"cdna_start": 2464,
"cdna_end": null,
"cdna_length": 10138,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYM",
"gene_hgnc_id": 21317,
"hgvs_c": "c.2055C>T",
"hgvs_p": "p.Ser685Ser",
"transcript": "NM_001374431.1",
"protein_id": "NP_001361360.1",
"transcript_support_level": null,
"aa_start": 685,
"aa_end": null,
"aa_length": 686,
"cds_start": 2055,
"cds_end": null,
"cds_length": 2061,
"cdna_start": 2356,
"cdna_end": null,
"cdna_length": 10030,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYM",
"gene_hgnc_id": 21317,
"hgvs_c": "c.2043C>T",
"hgvs_p": "p.Ser681Ser",
"transcript": "NM_001374432.1",
"protein_id": "NP_001361361.1",
"transcript_support_level": null,
"aa_start": 681,
"aa_end": null,
"aa_length": 682,
"cds_start": 2043,
"cds_end": null,
"cds_length": 2049,
"cdna_start": 2344,
"cdna_end": null,
"cdna_length": 10018,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYM",
"gene_hgnc_id": 21317,
"hgvs_c": "c.2004C>T",
"hgvs_p": "p.Ser668Ser",
"transcript": "NM_017653.6",
"protein_id": "NP_060123.3",
"transcript_support_level": null,
"aa_start": 668,
"aa_end": null,
"aa_length": 669,
"cds_start": 2004,
"cds_end": null,
"cds_length": 2010,
"cdna_start": 2305,
"cdna_end": null,
"cdna_length": 9979,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYM",
"gene_hgnc_id": 21317,
"hgvs_c": "c.2001C>T",
"hgvs_p": "p.Ser667Ser",
"transcript": "NM_001353210.3",
"protein_id": "NP_001340139.1",
"transcript_support_level": null,
"aa_start": 667,
"aa_end": null,
"aa_length": 668,
"cds_start": 2001,
"cds_end": null,
"cds_length": 2007,
"cdna_start": 2302,
"cdna_end": null,
"cdna_length": 9976,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYM",
"gene_hgnc_id": 21317,
"hgvs_c": "c.2001C>T",
"hgvs_p": "p.Ser667Ser",
"transcript": "NM_001353211.3",
"protein_id": "NP_001340140.1",
"transcript_support_level": null,
"aa_start": 667,
"aa_end": null,
"aa_length": 668,
"cds_start": 2001,
"cds_end": null,
"cds_length": 2007,
"cdna_start": 2302,
"cdna_end": null,
"cdna_length": 9976,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYM",
"gene_hgnc_id": 21317,
"hgvs_c": "c.1986C>T",
"hgvs_p": "p.Ser662Ser",
"transcript": "NM_001353215.3",
"protein_id": "NP_001340144.1",
"transcript_support_level": null,
"aa_start": 662,
"aa_end": null,
"aa_length": 663,
"cds_start": 1986,
"cds_end": null,
"cds_length": 1992,
"cdna_start": 2287,
"cdna_end": null,
"cdna_length": 9961,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYM",
"gene_hgnc_id": 21317,
"hgvs_c": "c.1890C>T",
"hgvs_p": "p.Ser630Ser",
"transcript": "NM_001374434.1",
"protein_id": "NP_001361363.1",
"transcript_support_level": null,
"aa_start": 630,
"aa_end": null,
"aa_length": 631,
"cds_start": 1890,
"cds_end": null,
"cds_length": 1896,
"cdna_start": 2191,
"cdna_end": null,
"cdna_length": 9865,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYM",
"gene_hgnc_id": 21317,
"hgvs_c": "c.1887C>T",
"hgvs_p": "p.Ser629Ser",
"transcript": "NM_001374435.1",
"protein_id": "NP_001361364.1",
"transcript_support_level": null,
"aa_start": 629,
"aa_end": null,
"aa_length": 630,
"cds_start": 1887,
"cds_end": null,
"cds_length": 1893,
"cdna_start": 2188,
"cdna_end": null,
"cdna_length": 9862,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYM",
"gene_hgnc_id": 21317,
"hgvs_c": "c.1878C>T",
"hgvs_p": "p.Ser626Ser",
"transcript": "NM_001374436.1",
"protein_id": "NP_001361365.1",
"transcript_support_level": null,
"aa_start": 626,
"aa_end": null,
"aa_length": 627,
"cds_start": 1878,
"cds_end": null,
"cds_length": 1884,
"cdna_start": 2179,
"cdna_end": null,
"cdna_length": 9853,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYM",
"gene_hgnc_id": 21317,
"hgvs_c": "c.1821C>T",
"hgvs_p": "p.Ser607Ser",
"transcript": "NM_001353216.3",
"protein_id": "NP_001340145.1",
"transcript_support_level": null,
"aa_start": 607,
"aa_end": null,
"aa_length": 608,
"cds_start": 1821,
"cds_end": null,
"cds_length": 1827,
"cdna_start": 2122,
"cdna_end": null,
"cdna_length": 9796,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYM",
"gene_hgnc_id": 21317,
"hgvs_c": "c.1821C>T",
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 5,
"intron_rank": 4,
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"gene_symbol": "DYM-AS1",
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"hgvs_c": "n.437+3992G>A",
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"transcript": "ENST00000839917.1",
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"cds_start": -4,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 4,
"intron_rank": 3,
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"gene_symbol": "DYM-AS1",
"gene_hgnc_id": 37046,
"hgvs_c": "n.319+3992G>A",
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"transcript": "ENST00000839918.1",
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"cds_start": -4,
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"cdna_length": 666,
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"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 6,
"intron_rank": 4,
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"gene_symbol": "DYM-AS1",
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"hgvs_c": "n.412-3770G>A",
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"transcript": "ENST00000839919.1",
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 5,
"intron_rank": 4,
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"gene_symbol": "DYM-AS1",
"gene_hgnc_id": 37046,
"hgvs_c": "n.312+3992G>A",
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"transcript": "NR_148999.1",
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"cds_end": null,
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"cdna_length": 659,
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"feature": null
}
],
"gene_symbol": "DYM",
"gene_hgnc_id": 21317,
"dbsnp": "rs892140659",
"frequency_reference_population": 0.0000061597175,
"hom_count_reference_population": 0,
"allele_count_reference_population": 9,
"gnomad_exomes_af": 0.00000615972,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 9,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.6299999952316284,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"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": -0.63,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -4.088,
"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": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP6_Moderate,BP7",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 7,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_001353214.3",
"gene_symbol": "DYM",
"hgnc_id": 21317,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2169C>T",
"hgvs_p": "p.Ser723Ser"
},
{
"score": -4,
"benign_score": 6,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NR_148999.1",
"gene_symbol": "DYM-AS1",
"hgnc_id": 37046,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.312+3992G>A",
"hgvs_p": null
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}