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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: 18-49044119-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=49044119&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 49044119,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001353214.3",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.2111A>G",
"hgvs_p": "p.Asn704Ser",
"transcript": "NM_001353214.3",
"protein_id": "NP_001340143.1",
"transcript_support_level": null,
"aa_start": 704,
"aa_end": null,
"aa_length": 724,
"cds_start": 2111,
"cds_end": null,
"cds_length": 2175,
"cdna_start": 2412,
"cdna_end": null,
"cdna_length": 10144,
"mane_select": "ENST00000675505.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.2111A>G",
"hgvs_p": "p.Asn704Ser",
"transcript": "ENST00000675505.1",
"protein_id": "ENSP00000501694.1",
"transcript_support_level": null,
"aa_start": 704,
"aa_end": null,
"aa_length": 724,
"cds_start": 2111,
"cds_end": null,
"cds_length": 2175,
"cdna_start": 2412,
"cdna_end": null,
"cdna_length": 10144,
"mane_select": "NM_001353214.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.1946A>G",
"hgvs_p": "p.Asn649Ser",
"transcript": "ENST00000269445.10",
"protein_id": "ENSP00000269445.6",
"transcript_support_level": 1,
"aa_start": 649,
"aa_end": null,
"aa_length": 669,
"cds_start": 1946,
"cds_end": null,
"cds_length": 2010,
"cdna_start": 2404,
"cdna_end": null,
"cdna_length": 5049,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.2111A>G",
"hgvs_p": "p.Asn704Ser",
"transcript": "NM_001374428.1",
"protein_id": "NP_001361357.1",
"transcript_support_level": null,
"aa_start": 704,
"aa_end": null,
"aa_length": 724,
"cds_start": 2111,
"cds_end": null,
"cds_length": 2175,
"cdna_start": 2670,
"cdna_end": null,
"cdna_length": 10402,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.2108A>G",
"hgvs_p": "p.Asn703Ser",
"transcript": "NM_001353212.3",
"protein_id": "NP_001340141.1",
"transcript_support_level": null,
"aa_start": 703,
"aa_end": null,
"aa_length": 723,
"cds_start": 2108,
"cds_end": null,
"cds_length": 2172,
"cdna_start": 2409,
"cdna_end": null,
"cdna_length": 10141,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.2108A>G",
"hgvs_p": "p.Asn703Ser",
"transcript": "NM_001353213.3",
"protein_id": "NP_001340142.1",
"transcript_support_level": null,
"aa_start": 703,
"aa_end": null,
"aa_length": 723,
"cds_start": 2108,
"cds_end": null,
"cds_length": 2172,
"cdna_start": 2409,
"cdna_end": null,
"cdna_length": 10141,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.2105A>G",
"hgvs_p": "p.Asn702Ser",
"transcript": "NM_001374429.1",
"protein_id": "NP_001361358.1",
"transcript_support_level": null,
"aa_start": 702,
"aa_end": null,
"aa_length": 722,
"cds_start": 2105,
"cds_end": null,
"cds_length": 2169,
"cdna_start": 2406,
"cdna_end": null,
"cdna_length": 10138,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.1997A>G",
"hgvs_p": "p.Asn666Ser",
"transcript": "NM_001374431.1",
"protein_id": "NP_001361360.1",
"transcript_support_level": null,
"aa_start": 666,
"aa_end": null,
"aa_length": 686,
"cds_start": 1997,
"cds_end": null,
"cds_length": 2061,
"cdna_start": 2298,
"cdna_end": null,
"cdna_length": 10030,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.1985A>G",
"hgvs_p": "p.Asn662Ser",
"transcript": "NM_001374432.1",
"protein_id": "NP_001361361.1",
"transcript_support_level": null,
"aa_start": 662,
"aa_end": null,
"aa_length": 682,
"cds_start": 1985,
"cds_end": null,
"cds_length": 2049,
"cdna_start": 2286,
"cdna_end": null,
"cdna_length": 10018,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.1946A>G",
"hgvs_p": "p.Asn649Ser",
"transcript": "NM_017653.6",
"protein_id": "NP_060123.3",
"transcript_support_level": null,
"aa_start": 649,
"aa_end": null,
"aa_length": 669,
"cds_start": 1946,
"cds_end": null,
"cds_length": 2010,
"cdna_start": 2247,
"cdna_end": null,
"cdna_length": 9979,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.1943A>G",
"hgvs_p": "p.Asn648Ser",
"transcript": "NM_001353210.3",
"protein_id": "NP_001340139.1",
"transcript_support_level": null,
"aa_start": 648,
"aa_end": null,
"aa_length": 668,
"cds_start": 1943,
"cds_end": null,
"cds_length": 2007,
"cdna_start": 2244,
"cdna_end": null,
"cdna_length": 9976,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.1943A>G",
"hgvs_p": "p.Asn648Ser",
"transcript": "NM_001353211.3",
"protein_id": "NP_001340140.1",
"transcript_support_level": null,
"aa_start": 648,
"aa_end": null,
"aa_length": 668,
"cds_start": 1943,
"cds_end": null,
"cds_length": 2007,
"cdna_start": 2244,
"cdna_end": null,
"cdna_length": 9976,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.1928A>G",
"hgvs_p": "p.Asn643Ser",
"transcript": "NM_001353215.3",
"protein_id": "NP_001340144.1",
"transcript_support_level": null,
"aa_start": 643,
"aa_end": null,
"aa_length": 663,
"cds_start": 1928,
"cds_end": null,
"cds_length": 1992,
"cdna_start": 2229,
"cdna_end": null,
"cdna_length": 9961,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.1832A>G",
"hgvs_p": "p.Asn611Ser",
"transcript": "NM_001374434.1",
"protein_id": "NP_001361363.1",
"transcript_support_level": null,
"aa_start": 611,
"aa_end": null,
"aa_length": 631,
"cds_start": 1832,
"cds_end": null,
"cds_length": 1896,
"cdna_start": 2133,
"cdna_end": null,
"cdna_length": 9865,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.1829A>G",
"hgvs_p": "p.Asn610Ser",
"transcript": "NM_001374435.1",
"protein_id": "NP_001361364.1",
"transcript_support_level": null,
"aa_start": 610,
"aa_end": null,
"aa_length": 630,
"cds_start": 1829,
"cds_end": null,
"cds_length": 1893,
"cdna_start": 2130,
"cdna_end": null,
"cdna_length": 9862,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.1820A>G",
"hgvs_p": "p.Asn607Ser",
"transcript": "NM_001374436.1",
"protein_id": "NP_001361365.1",
"transcript_support_level": null,
"aa_start": 607,
"aa_end": null,
"aa_length": 627,
"cds_start": 1820,
"cds_end": null,
"cds_length": 1884,
"cdna_start": 2121,
"cdna_end": null,
"cdna_length": 9853,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.1763A>G",
"hgvs_p": "p.Asn588Ser",
"transcript": "NM_001353216.3",
"protein_id": "NP_001340145.1",
"transcript_support_level": null,
"aa_start": 588,
"aa_end": null,
"aa_length": 608,
"cds_start": 1763,
"cds_end": null,
"cds_length": 1827,
"cdna_start": 2064,
"cdna_end": null,
"cdna_length": 9796,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.1763A>G",
"hgvs_p": "p.Asn588Ser",
"transcript": "NM_001374437.1",
"protein_id": "NP_001361366.1",
"transcript_support_level": null,
"aa_start": 588,
"aa_end": null,
"aa_length": 608,
"cds_start": 1763,
"cds_end": null,
"cds_length": 1827,
"cdna_start": 2064,
"cdna_end": null,
"cdna_length": 9796,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.1760A>G",
"hgvs_p": "p.Asn587Ser",
"transcript": "NM_001374438.1",
"protein_id": "NP_001361367.1",
"transcript_support_level": null,
"aa_start": 587,
"aa_end": null,
"aa_length": 607,
"cds_start": 1760,
"cds_end": null,
"cds_length": 1824,
"cdna_start": 2061,
"cdna_end": null,
"cdna_length": 9793,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.1757A>G",
"hgvs_p": "p.Asn586Ser",
"transcript": "NM_001374439.1",
"protein_id": "NP_001361368.1",
"transcript_support_level": null,
"aa_start": 586,
"aa_end": null,
"aa_length": 606,
"cds_start": 1757,
"cds_end": null,
"cds_length": 1821,
"cdna_start": 2058,
"cdna_end": null,
"cdna_length": 9790,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYM",
"gene_hgnc_id": 21317,
"hgvs_c": "c.1718A>G",
"hgvs_p": "p.Asn573Ser",
"transcript": "NM_001374440.1",
"protein_id": "NP_001361369.1",
"transcript_support_level": null,
"aa_start": 573,
"aa_end": null,
"aa_length": 593,
"cds_start": 1718,
"cds_end": null,
"cds_length": 1782,
"cdna_start": 2019,
"cdna_end": null,
"cdna_length": 9751,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYM",
"gene_hgnc_id": 21317,
"hgvs_c": "c.1541A>G",
"hgvs_p": "p.Asn514Ser",
"transcript": "NM_001374441.1",
"protein_id": "NP_001361370.1",
"transcript_support_level": null,
"aa_start": 514,
"aa_end": null,
"aa_length": 534,
"cds_start": 1541,
"cds_end": null,
"cds_length": 1605,
"cdna_start": 1842,
"cdna_end": null,
"cdna_length": 9574,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYM",
"gene_hgnc_id": 21317,
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"gene_symbol": "DYM-AS1",
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"transcript": "ENST00000839916.1",
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"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"cds_length": null,
"cdna_start": null,
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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,
"intron_rank_end": null,
"gene_symbol": "DYM-AS1",
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"hgvs_c": "n.438-4009T>C",
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"transcript": "ENST00000839917.1",
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"aa_start": null,
"aa_end": null,
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"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 784,
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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": 4,
"intron_rank": 3,
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"gene_symbol": "DYM-AS1",
"gene_hgnc_id": 37046,
"hgvs_c": "n.320-4009T>C",
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"transcript": "ENST00000839918.1",
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"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": 666,
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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": 6,
"intron_rank": 4,
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"gene_symbol": "DYM-AS1",
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"hgvs_c": "n.412-3712T>C",
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"transcript": "ENST00000839919.1",
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"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": 883,
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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,
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"gene_symbol": "DYM-AS1",
"gene_hgnc_id": 37046,
"hgvs_c": "n.313-4009T>C",
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"transcript": "NR_148999.1",
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"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": 659,
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"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "DYM",
"gene_hgnc_id": 21317,
"dbsnp": "rs373518434",
"frequency_reference_population": 0.000013144232,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.0000131442,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.14386874437332153,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.4099999964237213,
"splice_prediction_selected": "Uncertain_significance",
"splice_source_selected": "max_spliceai",
"revel_score": 0.256,
"revel_prediction": "Benign",
"alphamissense_score": 0.0713,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.29,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.34,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.41,
"spliceai_max_prediction": "Uncertain_significance",
"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": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001353214.3",
"gene_symbol": "DYM",
"hgnc_id": 21317,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2111A>G",
"hgvs_p": "p.Asn704Ser"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NR_148999.1",
"gene_symbol": "DYM-AS1",
"hgnc_id": 37046,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.313-4009T>C",
"hgvs_p": null
}
],
"clinvar_disease": "Inborn genetic diseases,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "not provided|Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}