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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: 2-71669705-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=71669705&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 71669705,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000410020.8",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 51,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYSF",
"gene_hgnc_id": 3097,
"hgvs_c": "c.5743G>A",
"hgvs_p": "p.Asp1915Asn",
"transcript": "NM_001130987.2",
"protein_id": "NP_001124459.1",
"transcript_support_level": null,
"aa_start": 1915,
"aa_end": null,
"aa_length": 2119,
"cds_start": 5743,
"cds_end": null,
"cds_length": 6360,
"cdna_start": 5887,
"cdna_end": null,
"cdna_length": 6775,
"mane_select": "ENST00000410020.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 51,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYSF",
"gene_hgnc_id": 3097,
"hgvs_c": "c.5743G>A",
"hgvs_p": "p.Asp1915Asn",
"transcript": "ENST00000410020.8",
"protein_id": "ENSP00000386881.3",
"transcript_support_level": 1,
"aa_start": 1915,
"aa_end": null,
"aa_length": 2119,
"cds_start": 5743,
"cds_end": null,
"cds_length": 6360,
"cdna_start": 5887,
"cdna_end": null,
"cdna_length": 6775,
"mane_select": "NM_001130987.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 50,
"exon_rank_end": null,
"exon_count": 55,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYSF",
"gene_hgnc_id": 3097,
"hgvs_c": "c.5626G>A",
"hgvs_p": "p.Asp1876Asn",
"transcript": "NM_003494.4",
"protein_id": "NP_003485.1",
"transcript_support_level": null,
"aa_start": 1876,
"aa_end": null,
"aa_length": 2080,
"cds_start": 5626,
"cds_end": null,
"cds_length": 6243,
"cdna_start": 6064,
"cdna_end": null,
"cdna_length": 6952,
"mane_select": null,
"mane_plus": "ENST00000258104.8",
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 50,
"exon_rank_end": null,
"exon_count": 55,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYSF",
"gene_hgnc_id": 3097,
"hgvs_c": "c.5626G>A",
"hgvs_p": "p.Asp1876Asn",
"transcript": "ENST00000258104.8",
"protein_id": "ENSP00000258104.3",
"transcript_support_level": 1,
"aa_start": 1876,
"aa_end": null,
"aa_length": 2080,
"cds_start": 5626,
"cds_end": null,
"cds_length": 6243,
"cdna_start": 6064,
"cdna_end": null,
"cdna_length": 6952,
"mane_select": null,
"mane_plus": "NM_003494.4",
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 51,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYSF",
"gene_hgnc_id": 3097,
"hgvs_c": "c.5740G>A",
"hgvs_p": "p.Asp1914Asn",
"transcript": "ENST00000409582.7",
"protein_id": "ENSP00000386547.3",
"transcript_support_level": 1,
"aa_start": 1914,
"aa_end": null,
"aa_length": 2118,
"cds_start": 5740,
"cds_end": null,
"cds_length": 6357,
"cdna_start": 6017,
"cdna_end": null,
"cdna_length": 6790,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 51,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYSF",
"gene_hgnc_id": 3097,
"hgvs_c": "c.5722G>A",
"hgvs_p": "p.Asp1908Asn",
"transcript": "ENST00000409651.5",
"protein_id": "ENSP00000386683.1",
"transcript_support_level": 1,
"aa_start": 1908,
"aa_end": null,
"aa_length": 2112,
"cds_start": 5722,
"cds_end": null,
"cds_length": 6339,
"cdna_start": 5863,
"cdna_end": null,
"cdna_length": 6636,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 51,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYSF",
"gene_hgnc_id": 3097,
"hgvs_c": "c.5719G>A",
"hgvs_p": "p.Asp1907Asn",
"transcript": "ENST00000413539.6",
"protein_id": "ENSP00000407046.2",
"transcript_support_level": 1,
"aa_start": 1907,
"aa_end": null,
"aa_length": 2111,
"cds_start": 5719,
"cds_end": null,
"cds_length": 6336,
"cdna_start": 5996,
"cdna_end": null,
"cdna_length": 6769,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 51,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYSF",
"gene_hgnc_id": 3097,
"hgvs_c": "c.5692G>A",
"hgvs_p": "p.Asp1898Asn",
"transcript": "ENST00000409366.5",
"protein_id": "ENSP00000386512.1",
"transcript_support_level": 1,
"aa_start": 1898,
"aa_end": null,
"aa_length": 2102,
"cds_start": 5692,
"cds_end": null,
"cds_length": 6309,
"cdna_start": 5833,
"cdna_end": null,
"cdna_length": 6606,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 51,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYSF",
"gene_hgnc_id": 3097,
"hgvs_c": "c.5689G>A",
"hgvs_p": "p.Asp1897Asn",
"transcript": "ENST00000429174.6",
"protein_id": "ENSP00000398305.2",
"transcript_support_level": 1,
"aa_start": 1897,
"aa_end": null,
"aa_length": 2101,
"cds_start": 5689,
"cds_end": null,
"cds_length": 6306,
"cdna_start": 5966,
"cdna_end": null,
"cdna_length": 6739,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 50,
"exon_rank_end": null,
"exon_count": 55,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYSF",
"gene_hgnc_id": 3097,
"hgvs_c": "c.5680G>A",
"hgvs_p": "p.Asp1894Asn",
"transcript": "ENST00000410041.1",
"protein_id": "ENSP00000386617.1",
"transcript_support_level": 1,
"aa_start": 1894,
"aa_end": null,
"aa_length": 2098,
"cds_start": 5680,
"cds_end": null,
"cds_length": 6297,
"cdna_start": 5821,
"cdna_end": null,
"cdna_length": 6594,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 50,
"exon_rank_end": null,
"exon_count": 55,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYSF",
"gene_hgnc_id": 3097,
"hgvs_c": "c.5677G>A",
"hgvs_p": "p.Asp1893Asn",
"transcript": "ENST00000409762.5",
"protein_id": "ENSP00000387137.1",
"transcript_support_level": 1,
"aa_start": 1893,
"aa_end": null,
"aa_length": 2097,
"cds_start": 5677,
"cds_end": null,
"cds_length": 6294,
"cdna_start": 5954,
"cdna_end": null,
"cdna_length": 6727,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 50,
"exon_rank_end": null,
"exon_count": 55,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYSF",
"gene_hgnc_id": 3097,
"hgvs_c": "c.5650G>A",
"hgvs_p": "p.Asp1884Asn",
"transcript": "ENST00000409744.5",
"protein_id": "ENSP00000386285.1",
"transcript_support_level": 1,
"aa_start": 1884,
"aa_end": null,
"aa_length": 2088,
"cds_start": 5650,
"cds_end": null,
"cds_length": 6267,
"cdna_start": 5791,
"cdna_end": null,
"cdna_length": 6564,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 50,
"exon_rank_end": null,
"exon_count": 55,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYSF",
"gene_hgnc_id": 3097,
"hgvs_c": "c.5629G>A",
"hgvs_p": "p.Asp1877Asn",
"transcript": "ENST00000394120.6",
"protein_id": "ENSP00000377678.2",
"transcript_support_level": 1,
"aa_start": 1877,
"aa_end": null,
"aa_length": 2081,
"cds_start": 5629,
"cds_end": null,
"cds_length": 6246,
"cdna_start": 5770,
"cdna_end": null,
"cdna_length": 6543,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 51,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYSF",
"gene_hgnc_id": 3097,
"hgvs_c": "c.5740G>A",
"hgvs_p": "p.Asp1914Asn",
"transcript": "NM_001130981.2",
"protein_id": "NP_001124453.1",
"transcript_support_level": null,
"aa_start": 1914,
"aa_end": null,
"aa_length": 2118,
"cds_start": 5740,
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"cds_length": 6357,
"cdna_start": 6178,
"cdna_end": null,
"cdna_length": 7066,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 51,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYSF",
"gene_hgnc_id": 3097,
"hgvs_c": "c.5722G>A",
"hgvs_p": "p.Asp1908Asn",
"transcript": "NM_001130982.2",
"protein_id": "NP_001124454.1",
"transcript_support_level": null,
"aa_start": 1908,
"aa_end": null,
"aa_length": 2112,
"cds_start": 5722,
"cds_end": null,
"cds_length": 6339,
"cdna_start": 5866,
"cdna_end": null,
"cdna_length": 6754,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 51,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYSF",
"gene_hgnc_id": 3097,
"hgvs_c": "c.5719G>A",
"hgvs_p": "p.Asp1907Asn",
"transcript": "NM_001130979.2",
"protein_id": "NP_001124451.1",
"transcript_support_level": null,
"aa_start": 1907,
"aa_end": null,
"aa_length": 2111,
"cds_start": 5719,
"cds_end": null,
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"cdna_start": 6157,
"cdna_end": null,
"cdna_length": 7045,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 51,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYSF",
"gene_hgnc_id": 3097,
"hgvs_c": "c.5692G>A",
"hgvs_p": "p.Asp1898Asn",
"transcript": "NM_001130983.2",
"protein_id": "NP_001124455.1",
"transcript_support_level": null,
"aa_start": 1898,
"aa_end": null,
"aa_length": 2102,
"cds_start": 5692,
"cds_end": null,
"cds_length": 6309,
"cdna_start": 5836,
"cdna_end": null,
"cdna_length": 6724,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 51,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYSF",
"gene_hgnc_id": 3097,
"hgvs_c": "c.5689G>A",
"hgvs_p": "p.Asp1897Asn",
"transcript": "NM_001130978.2",
"protein_id": "NP_001124450.1",
"transcript_support_level": null,
"aa_start": 1897,
"aa_end": null,
"aa_length": 2101,
"cds_start": 5689,
"cds_end": null,
"cds_length": 6306,
"cdna_start": 6127,
"cdna_end": null,
"cdna_length": 7015,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 50,
"exon_rank_end": null,
"exon_count": 55,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYSF",
"gene_hgnc_id": 3097,
"hgvs_c": "c.5680G>A",
"hgvs_p": "p.Asp1894Asn",
"transcript": "NM_001130985.2",
"protein_id": "NP_001124457.1",
"transcript_support_level": null,
"aa_start": 1894,
"aa_end": null,
"aa_length": 2098,
"cds_start": 5680,
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"cdna_start": 5824,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 50,
"exon_rank_end": null,
"exon_count": 55,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYSF",
"gene_hgnc_id": 3097,
"hgvs_c": "c.5677G>A",
"hgvs_p": "p.Asp1893Asn",
"transcript": "NM_001130980.2",
"protein_id": "NP_001124452.1",
"transcript_support_level": null,
"aa_start": 1893,
"aa_end": null,
"aa_length": 2097,
"cds_start": 5677,
"cds_end": null,
"cds_length": 6294,
"cdna_start": 6115,
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"cdna_length": 7003,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 50,
"exon_rank_end": null,
"exon_count": 55,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYSF",
"gene_hgnc_id": 3097,
"hgvs_c": "c.5650G>A",
"hgvs_p": "p.Asp1884Asn",
"transcript": "NM_001130984.2",
"protein_id": "NP_001124456.1",
"transcript_support_level": null,
"aa_start": 1884,
"aa_end": null,
"aa_length": 2088,
"cds_start": 5650,
"cds_end": null,
"cds_length": 6267,
"cdna_start": 5794,
"cdna_end": null,
"cdna_length": 6682,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 50,
"exon_rank_end": null,
"exon_count": 55,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYSF",
"gene_hgnc_id": 3097,
"hgvs_c": "c.5647G>A",
"hgvs_p": "p.Asp1883Asn",
"transcript": "NM_001130977.2",
"protein_id": "NP_001124449.1",
"transcript_support_level": null,
"aa_start": 1883,
"aa_end": null,
"aa_length": 2087,
"cds_start": 5647,
"cds_end": null,
"cds_length": 6264,
"cdna_start": 6085,
"cdna_end": null,
"cdna_length": 6973,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 50,
"exon_rank_end": null,
"exon_count": 55,
"intron_rank": null,
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{
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"feature": null
}
],
"gene_symbol": "DYSF",
"gene_hgnc_id": 3097,
"dbsnp": "rs115013641",
"frequency_reference_population": 0.003471861,
"hom_count_reference_population": 33,
"allele_count_reference_population": 5604,
"gnomad_exomes_af": 0.00354885,
"gnomad_genomes_af": 0.0027326,
"gnomad_exomes_ac": 5188,
"gnomad_genomes_ac": 416,
"gnomad_exomes_homalt": 27,
"gnomad_genomes_homalt": 6,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.010743886232376099,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.377,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1222,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.34,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.777,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"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": -18,
"acmg_classification": "Benign",
"acmg_criteria": "PM1,BP4_Strong,BP6_Very_Strong,BS1,BS2",
"acmg_by_gene": [
{
"score": -18,
"benign_score": 20,
"pathogenic_score": 2,
"criteria": [
"PM1",
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000410020.8",
"gene_symbol": "DYSF",
"hgnc_id": 3097,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.5743G>A",
"hgvs_p": "p.Asp1915Asn"
}
],
"clinvar_disease": "Autosomal recessive limb-girdle muscular dystrophy type 2B,Distal myopathy with anterior tibial onset,Miyoshi muscular dystrophy 1,Miyoshi myopathy,Neuromuscular disease caused by qualitative or quantitative defects of dysferlin,not provided,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:4 B:5 O:1",
"phenotype_combined": "not specified|not provided|Miyoshi myopathy;Autosomal recessive limb-girdle muscular dystrophy type 2B;Distal myopathy with anterior tibial onset|Autosomal recessive limb-girdle muscular dystrophy type 2B|Neuromuscular disease caused by qualitative or quantitative defects of dysferlin|Miyoshi muscular dystrophy 1;Autosomal recessive limb-girdle muscular dystrophy type 2B;Distal myopathy with anterior tibial onset",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}