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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: 18-49044177-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=49044177&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 49044177,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001353214.3",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "M",
"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.2053G>A",
"hgvs_p": "p.Val685Met",
"transcript": "NM_001353214.3",
"protein_id": "NP_001340143.1",
"transcript_support_level": null,
"aa_start": 685,
"aa_end": null,
"aa_length": 724,
"cds_start": 2053,
"cds_end": null,
"cds_length": 2175,
"cdna_start": 2354,
"cdna_end": null,
"cdna_length": 10144,
"mane_select": "ENST00000675505.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"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.2053G>A",
"hgvs_p": "p.Val685Met",
"transcript": "ENST00000675505.1",
"protein_id": "ENSP00000501694.1",
"transcript_support_level": null,
"aa_start": 685,
"aa_end": null,
"aa_length": 724,
"cds_start": 2053,
"cds_end": null,
"cds_length": 2175,
"cdna_start": 2354,
"cdna_end": null,
"cdna_length": 10144,
"mane_select": "NM_001353214.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"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.1888G>A",
"hgvs_p": "p.Val630Met",
"transcript": "ENST00000269445.10",
"protein_id": "ENSP00000269445.6",
"transcript_support_level": 1,
"aa_start": 630,
"aa_end": null,
"aa_length": 669,
"cds_start": 1888,
"cds_end": null,
"cds_length": 2010,
"cdna_start": 2346,
"cdna_end": null,
"cdna_length": 5049,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"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.2053G>A",
"hgvs_p": "p.Val685Met",
"transcript": "NM_001374428.1",
"protein_id": "NP_001361357.1",
"transcript_support_level": null,
"aa_start": 685,
"aa_end": null,
"aa_length": 724,
"cds_start": 2053,
"cds_end": null,
"cds_length": 2175,
"cdna_start": 2612,
"cdna_end": null,
"cdna_length": 10402,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"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.2050G>A",
"hgvs_p": "p.Val684Met",
"transcript": "NM_001353212.3",
"protein_id": "NP_001340141.1",
"transcript_support_level": null,
"aa_start": 684,
"aa_end": null,
"aa_length": 723,
"cds_start": 2050,
"cds_end": null,
"cds_length": 2172,
"cdna_start": 2351,
"cdna_end": null,
"cdna_length": 10141,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"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.2050G>A",
"hgvs_p": "p.Val684Met",
"transcript": "NM_001353213.3",
"protein_id": "NP_001340142.1",
"transcript_support_level": null,
"aa_start": 684,
"aa_end": null,
"aa_length": 723,
"cds_start": 2050,
"cds_end": null,
"cds_length": 2172,
"cdna_start": 2351,
"cdna_end": null,
"cdna_length": 10141,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"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.2047G>A",
"hgvs_p": "p.Val683Met",
"transcript": "NM_001374429.1",
"protein_id": "NP_001361358.1",
"transcript_support_level": null,
"aa_start": 683,
"aa_end": null,
"aa_length": 722,
"cds_start": 2047,
"cds_end": null,
"cds_length": 2169,
"cdna_start": 2348,
"cdna_end": null,
"cdna_length": 10138,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"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.1939G>A",
"hgvs_p": "p.Val647Met",
"transcript": "NM_001374431.1",
"protein_id": "NP_001361360.1",
"transcript_support_level": null,
"aa_start": 647,
"aa_end": null,
"aa_length": 686,
"cds_start": 1939,
"cds_end": null,
"cds_length": 2061,
"cdna_start": 2240,
"cdna_end": null,
"cdna_length": 10030,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"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.1927G>A",
"hgvs_p": "p.Val643Met",
"transcript": "NM_001374432.1",
"protein_id": "NP_001361361.1",
"transcript_support_level": null,
"aa_start": 643,
"aa_end": null,
"aa_length": 682,
"cds_start": 1927,
"cds_end": null,
"cds_length": 2049,
"cdna_start": 2228,
"cdna_end": null,
"cdna_length": 10018,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"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.1888G>A",
"hgvs_p": "p.Val630Met",
"transcript": "NM_017653.6",
"protein_id": "NP_060123.3",
"transcript_support_level": null,
"aa_start": 630,
"aa_end": null,
"aa_length": 669,
"cds_start": 1888,
"cds_end": null,
"cds_length": 2010,
"cdna_start": 2189,
"cdna_end": null,
"cdna_length": 9979,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"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.1885G>A",
"hgvs_p": "p.Val629Met",
"transcript": "NM_001353210.3",
"protein_id": "NP_001340139.1",
"transcript_support_level": null,
"aa_start": 629,
"aa_end": null,
"aa_length": 668,
"cds_start": 1885,
"cds_end": null,
"cds_length": 2007,
"cdna_start": 2186,
"cdna_end": null,
"cdna_length": 9976,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"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.1885G>A",
"hgvs_p": "p.Val629Met",
"transcript": "NM_001353211.3",
"protein_id": "NP_001340140.1",
"transcript_support_level": null,
"aa_start": 629,
"aa_end": null,
"aa_length": 668,
"cds_start": 1885,
"cds_end": null,
"cds_length": 2007,
"cdna_start": 2186,
"cdna_end": null,
"cdna_length": 9976,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"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.1870G>A",
"hgvs_p": "p.Val624Met",
"transcript": "NM_001353215.3",
"protein_id": "NP_001340144.1",
"transcript_support_level": null,
"aa_start": 624,
"aa_end": null,
"aa_length": 663,
"cds_start": 1870,
"cds_end": null,
"cds_length": 1992,
"cdna_start": 2171,
"cdna_end": null,
"cdna_length": 9961,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
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"gene_symbol": "DYM",
"gene_hgnc_id": 21317,
"hgvs_c": "c.1774G>A",
"hgvs_p": "p.Val592Met",
"transcript": "NM_001374434.1",
"protein_id": "NP_001361363.1",
"transcript_support_level": null,
"aa_start": 592,
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"aa_length": 631,
"cds_start": 1774,
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"cdna_start": 2075,
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"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"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.1771G>A",
"hgvs_p": "p.Val591Met",
"transcript": "NM_001374435.1",
"protein_id": "NP_001361364.1",
"transcript_support_level": null,
"aa_start": 591,
"aa_end": null,
"aa_length": 630,
"cds_start": 1771,
"cds_end": null,
"cds_length": 1893,
"cdna_start": 2072,
"cdna_end": null,
"cdna_length": 9862,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"aa_alt": "M",
"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.1762G>A",
"hgvs_p": "p.Val588Met",
"transcript": "NM_001374436.1",
"protein_id": "NP_001361365.1",
"transcript_support_level": null,
"aa_start": 588,
"aa_end": null,
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"cds_start": 1762,
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"cdna_start": 2063,
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"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"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.1705G>A",
"hgvs_p": "p.Val569Met",
"transcript": "NM_001353216.3",
"protein_id": "NP_001340145.1",
"transcript_support_level": null,
"aa_start": 569,
"aa_end": null,
"aa_length": 608,
"cds_start": 1705,
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"cds_length": 1827,
"cdna_start": 2006,
"cdna_end": null,
"cdna_length": 9796,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"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.1705G>A",
"hgvs_p": "p.Val569Met",
"transcript": "NM_001374437.1",
"protein_id": "NP_001361366.1",
"transcript_support_level": null,
"aa_start": 569,
"aa_end": null,
"aa_length": 608,
"cds_start": 1705,
"cds_end": null,
"cds_length": 1827,
"cdna_start": 2006,
"cdna_end": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"aa_alt": "M",
"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.1702G>A",
"hgvs_p": "p.Val568Met",
"transcript": "NM_001374438.1",
"protein_id": "NP_001361367.1",
"transcript_support_level": null,
"aa_start": 568,
"aa_end": null,
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"cds_start": 1702,
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"mane_select": null,
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"biotype": null,
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},
{
"aa_ref": "V",
"aa_alt": "M",
"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.1699G>A",
"hgvs_p": "p.Val567Met",
"transcript": "NM_001374439.1",
"protein_id": "NP_001361368.1",
"transcript_support_level": null,
"aa_start": 567,
"aa_end": null,
"aa_length": 606,
"cds_start": 1699,
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"cdna_start": 2000,
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"biotype": null,
"feature": null
},
{
"aa_ref": "V",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
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"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYM",
"gene_hgnc_id": 21317,
"hgvs_c": "c.1660G>A",
"hgvs_p": "p.Val554Met",
"transcript": "NM_001374440.1",
"protein_id": "NP_001361369.1",
"transcript_support_level": null,
"aa_start": 554,
"aa_end": null,
"aa_length": 593,
"cds_start": 1660,
"cds_end": null,
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"cdna_start": 1961,
"cdna_end": null,
"cdna_length": 9751,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"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.1483G>A",
"hgvs_p": "p.Val495Met",
"transcript": "NM_001374441.1",
"protein_id": "NP_001361370.1",
"transcript_support_level": null,
"aa_start": 495,
"aa_end": null,
"aa_length": 534,
"cds_start": 1483,
"cds_end": null,
"cds_length": 1605,
"cdna_start": 1784,
"cdna_end": null,
"cdna_length": 9574,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"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,
"hgvs_c": "c.1318G>A",
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],
"gene_symbol": "DYM",
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"dbsnp": "rs757286463",
"frequency_reference_population": 0.000028045963,
"hom_count_reference_population": 0,
"allele_count_reference_population": 41,
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"gnomad_genomes_af": null,
"gnomad_exomes_ac": 41,
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"gnomad_exomes_homalt": 0,
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"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7160625457763672,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.695,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9497,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.13,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.724,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.01,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "NM_001353214.3",
"gene_symbol": "DYM",
"hgnc_id": 21317,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2053G>A",
"hgvs_p": "p.Val685Met"
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{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "NR_148999.1",
"gene_symbol": "DYM-AS1",
"hgnc_id": 37046,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.313-3951C>T",
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}
],
"clinvar_disease": "Dyggve-Melchior-Clausen syndrome,Smith-McCort dysplasia",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "Dyggve-Melchior-Clausen syndrome|Smith-McCort dysplasia",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}