← 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: 2-71665181-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=71665181&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PS3",
"PM1",
"PM2",
"PM5",
"PP3_Strong",
"PP5_Very_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "DYSF",
"hgnc_id": 3097,
"hgvs_c": "c.5194C>T",
"hgvs_p": "p.Arg1732Trp",
"inheritance_mode": "AR",
"pathogenic_score": 22,
"score": 22,
"transcript": "NM_001130987.2",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PS3,PM1,PM2,PM5,PP3_Strong,PP5_Very_Strong",
"acmg_score": 22,
"allele_count_reference_population": 16,
"alphamissense_prediction": null,
"alphamissense_score": 0.7531,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.31,
"chr": "2",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_disease": "Autosomal recessive limb-girdle muscular dystrophy,Autosomal recessive limb-girdle muscular dystrophy type 2B,Distal myopathy with anterior tibial onset,Miyoshi muscular dystrophy 1,Neuromuscular disease caused by qualitative or quantitative defects of dysferlin,not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:5 LP:3",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.9667070508003235,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 2119,
"aa_ref": "R",
"aa_start": 1732,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6775,
"cdna_start": 5338,
"cds_end": null,
"cds_length": 6360,
"cds_start": 5194,
"consequences": [
"missense_variant"
],
"exon_count": 56,
"exon_rank": 47,
"exon_rank_end": null,
"feature": "NM_001130987.2",
"gene_hgnc_id": 3097,
"gene_symbol": "DYSF",
"hgvs_c": "c.5194C>T",
"hgvs_p": "p.Arg1732Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000410020.8",
"protein_coding": true,
"protein_id": "NP_001124459.1",
"strand": true,
"transcript": "NM_001130987.2",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 2119,
"aa_ref": "R",
"aa_start": 1732,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6775,
"cdna_start": 5338,
"cds_end": null,
"cds_length": 6360,
"cds_start": 5194,
"consequences": [
"missense_variant"
],
"exon_count": 56,
"exon_rank": 47,
"exon_rank_end": null,
"feature": "ENST00000410020.8",
"gene_hgnc_id": 3097,
"gene_symbol": "DYSF",
"hgvs_c": "c.5194C>T",
"hgvs_p": "p.Arg1732Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001130987.2",
"protein_coding": true,
"protein_id": "ENSP00000386881.3",
"strand": true,
"transcript": "ENST00000410020.8",
"transcript_support_level": 1
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 2080,
"aa_ref": "R",
"aa_start": 1693,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6952,
"cdna_start": 5515,
"cds_end": null,
"cds_length": 6243,
"cds_start": 5077,
"consequences": [
"missense_variant"
],
"exon_count": 55,
"exon_rank": 46,
"exon_rank_end": null,
"feature": "NM_003494.4",
"gene_hgnc_id": 3097,
"gene_symbol": "DYSF",
"hgvs_c": "c.5077C>T",
"hgvs_p": "p.Arg1693Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": "ENST00000258104.8",
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_003485.1",
"strand": true,
"transcript": "NM_003494.4",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 2080,
"aa_ref": "R",
"aa_start": 1693,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6952,
"cdna_start": 5515,
"cds_end": null,
"cds_length": 6243,
"cds_start": 5077,
"consequences": [
"missense_variant"
],
"exon_count": 55,
"exon_rank": 46,
"exon_rank_end": null,
"feature": "ENST00000258104.8",
"gene_hgnc_id": 3097,
"gene_symbol": "DYSF",
"hgvs_c": "c.5077C>T",
"hgvs_p": "p.Arg1693Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": "NM_003494.4",
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000258104.3",
"strand": true,
"transcript": "ENST00000258104.8",
"transcript_support_level": 1
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 2118,
"aa_ref": "R",
"aa_start": 1731,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6790,
"cdna_start": 5468,
"cds_end": null,
"cds_length": 6357,
"cds_start": 5191,
"consequences": [
"missense_variant"
],
"exon_count": 56,
"exon_rank": 47,
"exon_rank_end": null,
"feature": "ENST00000409582.7",
"gene_hgnc_id": 3097,
"gene_symbol": "DYSF",
"hgvs_c": "c.5191C>T",
"hgvs_p": "p.Arg1731Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000386547.3",
"strand": true,
"transcript": "ENST00000409582.7",
"transcript_support_level": 1
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 2112,
"aa_ref": "R",
"aa_start": 1725,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6636,
"cdna_start": 5314,
"cds_end": null,
"cds_length": 6339,
"cds_start": 5173,
"consequences": [
"missense_variant"
],
"exon_count": 56,
"exon_rank": 47,
"exon_rank_end": null,
"feature": "ENST00000409651.5",
"gene_hgnc_id": 3097,
"gene_symbol": "DYSF",
"hgvs_c": "c.5173C>T",
"hgvs_p": "p.Arg1725Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000386683.1",
"strand": true,
"transcript": "ENST00000409651.5",
"transcript_support_level": 1
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 2111,
"aa_ref": "R",
"aa_start": 1724,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6769,
"cdna_start": 5447,
"cds_end": null,
"cds_length": 6336,
"cds_start": 5170,
"consequences": [
"missense_variant"
],
"exon_count": 56,
"exon_rank": 47,
"exon_rank_end": null,
"feature": "ENST00000413539.6",
"gene_hgnc_id": 3097,
"gene_symbol": "DYSF",
"hgvs_c": "c.5170C>T",
"hgvs_p": "p.Arg1724Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000407046.2",
"strand": true,
"transcript": "ENST00000413539.6",
"transcript_support_level": 1
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 2102,
"aa_ref": "R",
"aa_start": 1715,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6606,
"cdna_start": 5284,
"cds_end": null,
"cds_length": 6309,
"cds_start": 5143,
"consequences": [
"missense_variant"
],
"exon_count": 56,
"exon_rank": 47,
"exon_rank_end": null,
"feature": "ENST00000409366.5",
"gene_hgnc_id": 3097,
"gene_symbol": "DYSF",
"hgvs_c": "c.5143C>T",
"hgvs_p": "p.Arg1715Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000386512.1",
"strand": true,
"transcript": "ENST00000409366.5",
"transcript_support_level": 1
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 2101,
"aa_ref": "R",
"aa_start": 1714,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6739,
"cdna_start": 5417,
"cds_end": null,
"cds_length": 6306,
"cds_start": 5140,
"consequences": [
"missense_variant"
],
"exon_count": 56,
"exon_rank": 47,
"exon_rank_end": null,
"feature": "ENST00000429174.6",
"gene_hgnc_id": 3097,
"gene_symbol": "DYSF",
"hgvs_c": "c.5140C>T",
"hgvs_p": "p.Arg1714Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000398305.2",
"strand": true,
"transcript": "ENST00000429174.6",
"transcript_support_level": 1
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 2098,
"aa_ref": "R",
"aa_start": 1711,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6594,
"cdna_start": 5272,
"cds_end": null,
"cds_length": 6297,
"cds_start": 5131,
"consequences": [
"missense_variant"
],
"exon_count": 55,
"exon_rank": 46,
"exon_rank_end": null,
"feature": "ENST00000410041.1",
"gene_hgnc_id": 3097,
"gene_symbol": "DYSF",
"hgvs_c": "c.5131C>T",
"hgvs_p": "p.Arg1711Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000386617.1",
"strand": true,
"transcript": "ENST00000410041.1",
"transcript_support_level": 1
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 2097,
"aa_ref": "R",
"aa_start": 1710,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6727,
"cdna_start": 5405,
"cds_end": null,
"cds_length": 6294,
"cds_start": 5128,
"consequences": [
"missense_variant"
],
"exon_count": 55,
"exon_rank": 46,
"exon_rank_end": null,
"feature": "ENST00000409762.5",
"gene_hgnc_id": 3097,
"gene_symbol": "DYSF",
"hgvs_c": "c.5128C>T",
"hgvs_p": "p.Arg1710Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000387137.1",
"strand": true,
"transcript": "ENST00000409762.5",
"transcript_support_level": 1
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 2088,
"aa_ref": "R",
"aa_start": 1701,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6564,
"cdna_start": 5242,
"cds_end": null,
"cds_length": 6267,
"cds_start": 5101,
"consequences": [
"missense_variant"
],
"exon_count": 55,
"exon_rank": 46,
"exon_rank_end": null,
"feature": "ENST00000409744.5",
"gene_hgnc_id": 3097,
"gene_symbol": "DYSF",
"hgvs_c": "c.5101C>T",
"hgvs_p": "p.Arg1701Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000386285.1",
"strand": true,
"transcript": "ENST00000409744.5",
"transcript_support_level": 1
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 2081,
"aa_ref": "R",
"aa_start": 1694,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6543,
"cdna_start": 5221,
"cds_end": null,
"cds_length": 6246,
"cds_start": 5080,
"consequences": [
"missense_variant"
],
"exon_count": 55,
"exon_rank": 46,
"exon_rank_end": null,
"feature": "ENST00000394120.6",
"gene_hgnc_id": 3097,
"gene_symbol": "DYSF",
"hgvs_c": "c.5080C>T",
"hgvs_p": "p.Arg1694Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000377678.2",
"strand": true,
"transcript": "ENST00000394120.6",
"transcript_support_level": 1
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 2118,
"aa_ref": "R",
"aa_start": 1731,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7066,
"cdna_start": 5629,
"cds_end": null,
"cds_length": 6357,
"cds_start": 5191,
"consequences": [
"missense_variant"
],
"exon_count": 56,
"exon_rank": 47,
"exon_rank_end": null,
"feature": "NM_001130981.2",
"gene_hgnc_id": 3097,
"gene_symbol": "DYSF",
"hgvs_c": "c.5191C>T",
"hgvs_p": "p.Arg1731Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001124453.1",
"strand": true,
"transcript": "NM_001130981.2",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 2114,
"aa_ref": "R",
"aa_start": 1727,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6730,
"cdna_start": 5293,
"cds_end": null,
"cds_length": 6345,
"cds_start": 5179,
"consequences": [
"missense_variant"
],
"exon_count": 56,
"exon_rank": 47,
"exon_rank_end": null,
"feature": "ENST00000873665.1",
"gene_hgnc_id": 3097,
"gene_symbol": "DYSF",
"hgvs_c": "c.5179C>T",
"hgvs_p": "p.Arg1727Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000543724.1",
"strand": true,
"transcript": "ENST00000873665.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 2112,
"aa_ref": "R",
"aa_start": 1725,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6754,
"cdna_start": 5317,
"cds_end": null,
"cds_length": 6339,
"cds_start": 5173,
"consequences": [
"missense_variant"
],
"exon_count": 56,
"exon_rank": 47,
"exon_rank_end": null,
"feature": "NM_001130982.2",
"gene_hgnc_id": 3097,
"gene_symbol": "DYSF",
"hgvs_c": "c.5173C>T",
"hgvs_p": "p.Arg1725Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001124454.1",
"strand": true,
"transcript": "NM_001130982.2",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 2111,
"aa_ref": "R",
"aa_start": 1724,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7045,
"cdna_start": 5608,
"cds_end": null,
"cds_length": 6336,
"cds_start": 5170,
"consequences": [
"missense_variant"
],
"exon_count": 56,
"exon_rank": 47,
"exon_rank_end": null,
"feature": "NM_001130979.2",
"gene_hgnc_id": 3097,
"gene_symbol": "DYSF",
"hgvs_c": "c.5170C>T",
"hgvs_p": "p.Arg1724Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001124451.1",
"strand": true,
"transcript": "NM_001130979.2",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 2102,
"aa_ref": "R",
"aa_start": 1715,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6724,
"cdna_start": 5287,
"cds_end": null,
"cds_length": 6309,
"cds_start": 5143,
"consequences": [
"missense_variant"
],
"exon_count": 56,
"exon_rank": 47,
"exon_rank_end": null,
"feature": "NM_001130983.2",
"gene_hgnc_id": 3097,
"gene_symbol": "DYSF",
"hgvs_c": "c.5143C>T",
"hgvs_p": "p.Arg1715Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001124455.1",
"strand": true,
"transcript": "NM_001130983.2",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 2101,
"aa_ref": "R",
"aa_start": 1714,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7015,
"cdna_start": 5578,
"cds_end": null,
"cds_length": 6306,
"cds_start": 5140,
"consequences": [
"missense_variant"
],
"exon_count": 56,
"exon_rank": 47,
"exon_rank_end": null,
"feature": "NM_001130978.2",
"gene_hgnc_id": 3097,
"gene_symbol": "DYSF",
"hgvs_c": "c.5140C>T",
"hgvs_p": "p.Arg1714Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001124450.1",
"strand": true,
"transcript": "NM_001130978.2",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 2098,
"aa_ref": "R",
"aa_start": 1711,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6712,
"cdna_start": 5275,
"cds_end": null,
"cds_length": 6297,
"cds_start": 5131,
"consequences": [
"missense_variant"
],
"exon_count": 55,
"exon_rank": 46,
"exon_rank_end": null,
"feature": "NM_001130985.2",
"gene_hgnc_id": 3097,
"gene_symbol": "DYSF",
"hgvs_c": "c.5131C>T",
"hgvs_p": "p.Arg1711Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001124457.1",
"strand": true,
"transcript": "NM_001130985.2",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 2097,
"aa_ref": "R",
"aa_start": 1710,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7003,
"cdna_start": 5566,
"cds_end": null,
"cds_length": 6294,
"cds_start": 5128,
"consequences": [
"missense_variant"
],
"exon_count": 55,
"exon_rank": 46,
"exon_rank_end": null,
"feature": "NM_001130980.2",
"gene_hgnc_id": 3097,
"gene_symbol": "DYSF",
"hgvs_c": "c.5128C>T",
"hgvs_p": "p.Arg1710Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001124452.1",
"strand": true,
"transcript": "NM_001130980.2",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 2088,
"aa_ref": "R",
"aa_start": 1701,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6682,
"cdna_start": 5245,
"cds_end": null,
"cds_length": 6267,
"cds_start": 5101,
"consequences": [
"missense_variant"
],
"exon_count": 55,
"exon_rank": 46,
"exon_rank_end": null,
"feature": "NM_001130984.2",
"gene_hgnc_id": 3097,
"gene_symbol": "DYSF",
"hgvs_c": "c.5101C>T",
"hgvs_p": "p.Arg1701Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001124456.1",
"strand": true,
"transcript": "NM_001130984.2",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 2087,
"aa_ref": "R",
"aa_start": 1700,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6973,
"cdna_start": 5536,
"cds_end": null,
"cds_length": 6264,
"cds_start": 5098,
"consequences": [
"missense_variant"
],
"exon_count": 55,
"exon_rank": 46,
"exon_rank_end": null,
"feature": "NM_001130977.2",
"gene_hgnc_id": 3097,
"gene_symbol": "DYSF",
"hgvs_c": "c.5098C>T",
"hgvs_p": "p.Arg1700Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001124449.1",
"strand": true,
"transcript": "NM_001130977.2",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 2081,
"aa_ref": "R",
"aa_start": 1694,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6661,
"cdna_start": 5224,
"cds_end": null,
"cds_length": 6246,
"cds_start": 5080,
"consequences": [
"missense_variant"
],
"exon_count": 55,
"exon_rank": 46,
"exon_rank_end": null,
"feature": "NM_001130455.2",
"gene_hgnc_id": 3097,
"gene_symbol": "DYSF",
"hgvs_c": "c.5080C>T",
"hgvs_p": "p.Arg1694Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001123927.1",
"strand": true,
"transcript": "NM_001130455.2",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 2075,
"aa_ref": "R",
"aa_start": 1688,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6643,
"cdna_start": 5206,
"cds_end": null,
"cds_length": 6228,
"cds_start": 5062,
"consequences": [
"missense_variant"
],
"exon_count": 55,
"exon_rank": 46,
"exon_rank_end": null,
"feature": "ENST00000873664.1",
"gene_hgnc_id": 3097,
"gene_symbol": "DYSF",
"hgvs_c": "c.5062C>T",
"hgvs_p": "p.Arg1688Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000543723.1",
"strand": true,
"transcript": "ENST00000873664.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 2067,
"aa_ref": "R",
"aa_start": 1680,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6619,
"cdna_start": 5182,
"cds_end": null,
"cds_length": 6204,
"cds_start": 5038,
"consequences": [
"missense_variant"
],
"exon_count": 54,
"exon_rank": 45,
"exon_rank_end": null,
"feature": "NM_001130986.2",
"gene_hgnc_id": 3097,
"gene_symbol": "DYSF",
"hgvs_c": "c.5038C>T",
"hgvs_p": "p.Arg1680Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001124458.1",
"strand": true,
"transcript": "NM_001130986.2",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 2066,
"aa_ref": "R",
"aa_start": 1679,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6910,
"cdna_start": 5473,
"cds_end": null,
"cds_length": 6201,
"cds_start": 5035,
"consequences": [
"missense_variant"
],
"exon_count": 54,
"exon_rank": 45,
"exon_rank_end": null,
"feature": "NM_001130976.2",
"gene_hgnc_id": 3097,
"gene_symbol": "DYSF",
"hgvs_c": "c.5035C>T",
"hgvs_p": "p.Arg1679Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001124448.1",
"strand": true,
"transcript": "NM_001130976.2",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 1257,
"aa_ref": "R",
"aa_start": 870,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4032,
"cdna_start": 2608,
"cds_end": null,
"cds_length": 3774,
"cds_start": 2608,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000698057.1",
"gene_hgnc_id": 3097,
"gene_symbol": "DYSF",
"hgvs_c": "c.2608C>T",
"hgvs_p": "p.Arg870Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000513536.1",
"strand": true,
"transcript": "ENST00000698057.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 1032,
"aa_ref": "R",
"aa_start": 645,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3548,
"cdna_start": 2124,
"cds_end": null,
"cds_length": 3099,
"cds_start": 1933,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000698059.1",
"gene_hgnc_id": 3097,
"gene_symbol": "DYSF",
"hgvs_c": "c.1933C>T",
"hgvs_p": "p.Arg645Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000513538.1",
"strand": true,
"transcript": "ENST00000698059.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 996,
"aa_ref": "R",
"aa_start": 609,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3440,
"cdna_start": 2016,
"cds_end": null,
"cds_length": 2991,
"cds_start": 1825,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000698058.1",
"gene_hgnc_id": 3097,
"gene_symbol": "DYSF",
"hgvs_c": "c.1825C>T",
"hgvs_p": "p.Arg609Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000513537.1",
"strand": true,
"transcript": "ENST00000698058.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 961,
"aa_ref": "R",
"aa_start": 574,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3399,
"cdna_start": 1962,
"cds_end": null,
"cds_length": 2886,
"cds_start": 1720,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000479049.6",
"gene_hgnc_id": 3097,
"gene_symbol": "DYSF",
"hgvs_c": "c.1720C>T",
"hgvs_p": "p.Arg574Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000513540.1",
"strand": true,
"transcript": "ENST00000479049.6",
"transcript_support_level": 5
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs863225021",
"effect": "missense_variant",
"frequency_reference_population": 0.000009915102,
"gene_hgnc_id": 3097,
"gene_symbol": "DYSF",
"gnomad_exomes_ac": 13,
"gnomad_exomes_af": 0.00000889456,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 3,
"gnomad_genomes_af": 0.0000197197,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"phenotype_combined": "Autosomal recessive limb-girdle muscular dystrophy type 2B|Neuromuscular disease caused by qualitative or quantitative defects of dysferlin|not provided|Autosomal recessive limb-girdle muscular dystrophy|Miyoshi muscular dystrophy 1|Distal myopathy with anterior tibial onset;Miyoshi muscular dystrophy 1;Autosomal recessive limb-girdle muscular dystrophy type 2B",
"phylop100way_prediction": "Benign",
"phylop100way_score": -0.677,
"pos": 71665181,
"ref": "C",
"revel_prediction": "Pathogenic",
"revel_score": 0.742,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_001130987.2"
}
]
}