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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: 2-71574313-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=71574313&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 71574313,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000410020.8",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYSF",
"gene_hgnc_id": 3097,
"hgvs_c": "c.3344G>A",
"hgvs_p": "p.Arg1115His",
"transcript": "NM_001130987.2",
"protein_id": "NP_001124459.1",
"transcript_support_level": null,
"aa_start": 1115,
"aa_end": null,
"aa_length": 2119,
"cds_start": 3344,
"cds_end": null,
"cds_length": 6360,
"cdna_start": 3488,
"cdna_end": null,
"cdna_length": 6775,
"mane_select": "ENST00000410020.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYSF",
"gene_hgnc_id": 3097,
"hgvs_c": "c.3344G>A",
"hgvs_p": "p.Arg1115His",
"transcript": "ENST00000410020.8",
"protein_id": "ENSP00000386881.3",
"transcript_support_level": 1,
"aa_start": 1115,
"aa_end": null,
"aa_length": 2119,
"cds_start": 3344,
"cds_end": null,
"cds_length": 6360,
"cdna_start": 3488,
"cdna_end": null,
"cdna_length": 6775,
"mane_select": "NM_001130987.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 55,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYSF",
"gene_hgnc_id": 3097,
"hgvs_c": "c.3290G>A",
"hgvs_p": "p.Arg1097His",
"transcript": "NM_003494.4",
"protein_id": "NP_003485.1",
"transcript_support_level": null,
"aa_start": 1097,
"aa_end": null,
"aa_length": 2080,
"cds_start": 3290,
"cds_end": null,
"cds_length": 6243,
"cdna_start": 3728,
"cdna_end": null,
"cdna_length": 6952,
"mane_select": null,
"mane_plus": "ENST00000258104.8",
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 55,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYSF",
"gene_hgnc_id": 3097,
"hgvs_c": "c.3290G>A",
"hgvs_p": "p.Arg1097His",
"transcript": "ENST00000258104.8",
"protein_id": "ENSP00000258104.3",
"transcript_support_level": 1,
"aa_start": 1097,
"aa_end": null,
"aa_length": 2080,
"cds_start": 3290,
"cds_end": null,
"cds_length": 6243,
"cdna_start": 3728,
"cdna_end": null,
"cdna_length": 6952,
"mane_select": null,
"mane_plus": "NM_003494.4",
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYSF",
"gene_hgnc_id": 3097,
"hgvs_c": "c.3341G>A",
"hgvs_p": "p.Arg1114His",
"transcript": "ENST00000409582.7",
"protein_id": "ENSP00000386547.3",
"transcript_support_level": 1,
"aa_start": 1114,
"aa_end": null,
"aa_length": 2118,
"cds_start": 3341,
"cds_end": null,
"cds_length": 6357,
"cdna_start": 3618,
"cdna_end": null,
"cdna_length": 6790,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYSF",
"gene_hgnc_id": 3097,
"hgvs_c": "c.3386G>A",
"hgvs_p": "p.Arg1129His",
"transcript": "ENST00000409651.5",
"protein_id": "ENSP00000386683.1",
"transcript_support_level": 1,
"aa_start": 1129,
"aa_end": null,
"aa_length": 2112,
"cds_start": 3386,
"cds_end": null,
"cds_length": 6339,
"cdna_start": 3527,
"cdna_end": null,
"cdna_length": 6636,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYSF",
"gene_hgnc_id": 3097,
"hgvs_c": "c.3383G>A",
"hgvs_p": "p.Arg1128His",
"transcript": "ENST00000413539.6",
"protein_id": "ENSP00000407046.2",
"transcript_support_level": 1,
"aa_start": 1128,
"aa_end": null,
"aa_length": 2111,
"cds_start": 3383,
"cds_end": null,
"cds_length": 6336,
"cdna_start": 3660,
"cdna_end": null,
"cdna_length": 6769,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYSF",
"gene_hgnc_id": 3097,
"hgvs_c": "c.3293G>A",
"hgvs_p": "p.Arg1098His",
"transcript": "ENST00000409366.5",
"protein_id": "ENSP00000386512.1",
"transcript_support_level": 1,
"aa_start": 1098,
"aa_end": null,
"aa_length": 2102,
"cds_start": 3293,
"cds_end": null,
"cds_length": 6309,
"cdna_start": 3434,
"cdna_end": null,
"cdna_length": 6606,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYSF",
"gene_hgnc_id": 3097,
"hgvs_c": "c.3290G>A",
"hgvs_p": "p.Arg1097His",
"transcript": "ENST00000429174.6",
"protein_id": "ENSP00000398305.2",
"transcript_support_level": 1,
"aa_start": 1097,
"aa_end": null,
"aa_length": 2101,
"cds_start": 3290,
"cds_end": null,
"cds_length": 6306,
"cdna_start": 3567,
"cdna_end": null,
"cdna_length": 6739,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 55,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYSF",
"gene_hgnc_id": 3097,
"hgvs_c": "c.3344G>A",
"hgvs_p": "p.Arg1115His",
"transcript": "ENST00000410041.1",
"protein_id": "ENSP00000386617.1",
"transcript_support_level": 1,
"aa_start": 1115,
"aa_end": null,
"aa_length": 2098,
"cds_start": 3344,
"cds_end": null,
"cds_length": 6297,
"cdna_start": 3485,
"cdna_end": null,
"cdna_length": 6594,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 55,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYSF",
"gene_hgnc_id": 3097,
"hgvs_c": "c.3341G>A",
"hgvs_p": "p.Arg1114His",
"transcript": "ENST00000409762.5",
"protein_id": "ENSP00000387137.1",
"transcript_support_level": 1,
"aa_start": 1114,
"aa_end": null,
"aa_length": 2097,
"cds_start": 3341,
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"cdna_start": 3618,
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"mane_select": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 55,
"intron_rank": null,
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"gene_symbol": "DYSF",
"gene_hgnc_id": 3097,
"hgvs_c": "c.3251G>A",
"hgvs_p": "p.Arg1084His",
"transcript": "ENST00000409744.5",
"protein_id": "ENSP00000386285.1",
"transcript_support_level": 1,
"aa_start": 1084,
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"cds_start": 3251,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 55,
"intron_rank": null,
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"gene_symbol": "DYSF",
"gene_hgnc_id": 3097,
"hgvs_c": "c.3293G>A",
"hgvs_p": "p.Arg1098His",
"transcript": "ENST00000394120.6",
"protein_id": "ENSP00000377678.2",
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"aa_length": 2081,
"cds_start": 3293,
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"cdna_start": 3434,
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 30,
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"intron_rank": null,
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"gene_symbol": "DYSF",
"gene_hgnc_id": 3097,
"hgvs_c": "c.3341G>A",
"hgvs_p": "p.Arg1114His",
"transcript": "NM_001130981.2",
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYSF",
"gene_hgnc_id": 3097,
"hgvs_c": "c.3386G>A",
"hgvs_p": "p.Arg1129His",
"transcript": "NM_001130982.2",
"protein_id": "NP_001124454.1",
"transcript_support_level": null,
"aa_start": 1129,
"aa_end": null,
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"mane_select": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
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"gene_symbol": "DYSF",
"gene_hgnc_id": 3097,
"hgvs_c": "c.3383G>A",
"hgvs_p": "p.Arg1128His",
"transcript": "NM_001130979.2",
"protein_id": "NP_001124451.1",
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
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"gene_symbol": "DYSF",
"gene_hgnc_id": 3097,
"hgvs_c": "c.3293G>A",
"hgvs_p": "p.Arg1098His",
"transcript": "NM_001130983.2",
"protein_id": "NP_001124455.1",
"transcript_support_level": null,
"aa_start": 1098,
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"mane_select": null,
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"biotype": null,
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYSF",
"gene_hgnc_id": 3097,
"hgvs_c": "c.3290G>A",
"hgvs_p": "p.Arg1097His",
"transcript": "NM_001130978.2",
"protein_id": "NP_001124450.1",
"transcript_support_level": null,
"aa_start": 1097,
"aa_end": null,
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 30,
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"intron_rank": null,
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"gene_symbol": "DYSF",
"gene_hgnc_id": 3097,
"hgvs_c": "c.3344G>A",
"hgvs_p": "p.Arg1115His",
"transcript": "NM_001130985.2",
"protein_id": "NP_001124457.1",
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},
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"protein_coding": true,
"strand": true,
"consequences": [
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],
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"intron_rank": null,
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"gene_symbol": "DYSF",
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"hgvs_c": "c.3341G>A",
"hgvs_p": "p.Arg1114His",
"transcript": "NM_001130980.2",
"protein_id": "NP_001124452.1",
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},
{
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"strand": true,
"consequences": [
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],
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"intron_rank": null,
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"gene_symbol": "DYSF",
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"hgvs_c": "c.3251G>A",
"hgvs_p": "p.Arg1084His",
"transcript": "NM_001130984.2",
"protein_id": "NP_001124456.1",
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"aa_start": 1084,
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"cdna_start": 3395,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 55,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYSF",
"gene_hgnc_id": 3097,
"hgvs_c": "c.3248G>A",
"hgvs_p": "p.Arg1083His",
"transcript": "NM_001130977.2",
"protein_id": "NP_001124449.1",
"transcript_support_level": null,
"aa_start": 1083,
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"aa_length": 2087,
"cds_start": 3248,
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"cdna_start": 3686,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
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"exon_count": 55,
"intron_rank": null,
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"gene_symbol": "DYSF",
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},
{
"aa_ref": "R",
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"gene_symbol": "DYSF",
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},
{
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"missense_variant"
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"gene_symbol": "DYSF",
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"protein_id": "NP_001124448.1",
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},
{
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"missense_variant"
],
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"gene_symbol": "DYSF",
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"transcript": "ENST00000698057.1",
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"cds_end": null,
"cds_length": 3774,
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"cdna_length": 4032,
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"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "DYSF",
"gene_hgnc_id": 3097,
"dbsnp": "rs749610930",
"frequency_reference_population": 0.000020446401,
"hom_count_reference_population": 0,
"allele_count_reference_population": 33,
"gnomad_exomes_af": 0.000020523,
"gnomad_genomes_af": 0.0000197104,
"gnomad_exomes_ac": 30,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7292361259460449,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.506,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.3352,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.06,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 5.454,
"phylop100way_prediction": "Uncertain_significance",
"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": 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": "ENST00000410020.8",
"gene_symbol": "DYSF",
"hgnc_id": 3097,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.3344G>A",
"hgvs_p": "p.Arg1115His"
}
],
"clinvar_disease": "Autosomal recessive limb-girdle muscular dystrophy type 2B,Neuromuscular disease caused by qualitative or quantitative defects of dysferlin,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "Neuromuscular disease caused by qualitative or quantitative defects of dysferlin|Autosomal recessive limb-girdle muscular dystrophy type 2B|not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}