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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: 2-71553135-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=71553135&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 71553135,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000410020.8",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYSF",
"gene_hgnc_id": 3097,
"hgvs_c": "c.1931T>C",
"hgvs_p": "p.Met644Thr",
"transcript": "NM_001130987.2",
"protein_id": "NP_001124459.1",
"transcript_support_level": null,
"aa_start": 644,
"aa_end": null,
"aa_length": 2119,
"cds_start": 1931,
"cds_end": null,
"cds_length": 6360,
"cdna_start": 2075,
"cdna_end": null,
"cdna_length": 6775,
"mane_select": "ENST00000410020.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYSF",
"gene_hgnc_id": 3097,
"hgvs_c": "c.1931T>C",
"hgvs_p": "p.Met644Thr",
"transcript": "ENST00000410020.8",
"protein_id": "ENSP00000386881.3",
"transcript_support_level": 1,
"aa_start": 644,
"aa_end": null,
"aa_length": 2119,
"cds_start": 1931,
"cds_end": null,
"cds_length": 6360,
"cdna_start": 2075,
"cdna_end": null,
"cdna_length": 6775,
"mane_select": "NM_001130987.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 55,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYSF",
"gene_hgnc_id": 3097,
"hgvs_c": "c.1877T>C",
"hgvs_p": "p.Met626Thr",
"transcript": "NM_003494.4",
"protein_id": "NP_003485.1",
"transcript_support_level": null,
"aa_start": 626,
"aa_end": null,
"aa_length": 2080,
"cds_start": 1877,
"cds_end": null,
"cds_length": 6243,
"cdna_start": 2315,
"cdna_end": null,
"cdna_length": 6952,
"mane_select": null,
"mane_plus": "ENST00000258104.8",
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 55,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYSF",
"gene_hgnc_id": 3097,
"hgvs_c": "c.1877T>C",
"hgvs_p": "p.Met626Thr",
"transcript": "ENST00000258104.8",
"protein_id": "ENSP00000258104.3",
"transcript_support_level": 1,
"aa_start": 626,
"aa_end": null,
"aa_length": 2080,
"cds_start": 1877,
"cds_end": null,
"cds_length": 6243,
"cdna_start": 2315,
"cdna_end": null,
"cdna_length": 6952,
"mane_select": null,
"mane_plus": "NM_003494.4",
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYSF",
"gene_hgnc_id": 3097,
"hgvs_c": "c.1928T>C",
"hgvs_p": "p.Met643Thr",
"transcript": "ENST00000409582.7",
"protein_id": "ENSP00000386547.3",
"transcript_support_level": 1,
"aa_start": 643,
"aa_end": null,
"aa_length": 2118,
"cds_start": 1928,
"cds_end": null,
"cds_length": 6357,
"cdna_start": 2205,
"cdna_end": null,
"cdna_length": 6790,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYSF",
"gene_hgnc_id": 3097,
"hgvs_c": "c.1973T>C",
"hgvs_p": "p.Met658Thr",
"transcript": "ENST00000409651.5",
"protein_id": "ENSP00000386683.1",
"transcript_support_level": 1,
"aa_start": 658,
"aa_end": null,
"aa_length": 2112,
"cds_start": 1973,
"cds_end": null,
"cds_length": 6339,
"cdna_start": 2114,
"cdna_end": null,
"cdna_length": 6636,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYSF",
"gene_hgnc_id": 3097,
"hgvs_c": "c.1970T>C",
"hgvs_p": "p.Met657Thr",
"transcript": "ENST00000413539.6",
"protein_id": "ENSP00000407046.2",
"transcript_support_level": 1,
"aa_start": 657,
"aa_end": null,
"aa_length": 2111,
"cds_start": 1970,
"cds_end": null,
"cds_length": 6336,
"cdna_start": 2247,
"cdna_end": null,
"cdna_length": 6769,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYSF",
"gene_hgnc_id": 3097,
"hgvs_c": "c.1880T>C",
"hgvs_p": "p.Met627Thr",
"transcript": "ENST00000409366.5",
"protein_id": "ENSP00000386512.1",
"transcript_support_level": 1,
"aa_start": 627,
"aa_end": null,
"aa_length": 2102,
"cds_start": 1880,
"cds_end": null,
"cds_length": 6309,
"cdna_start": 2021,
"cdna_end": null,
"cdna_length": 6606,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYSF",
"gene_hgnc_id": 3097,
"hgvs_c": "c.1877T>C",
"hgvs_p": "p.Met626Thr",
"transcript": "ENST00000429174.6",
"protein_id": "ENSP00000398305.2",
"transcript_support_level": 1,
"aa_start": 626,
"aa_end": null,
"aa_length": 2101,
"cds_start": 1877,
"cds_end": null,
"cds_length": 6306,
"cdna_start": 2154,
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"cdna_length": 6739,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 55,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYSF",
"gene_hgnc_id": 3097,
"hgvs_c": "c.1931T>C",
"hgvs_p": "p.Met644Thr",
"transcript": "ENST00000410041.1",
"protein_id": "ENSP00000386617.1",
"transcript_support_level": 1,
"aa_start": 644,
"aa_end": null,
"aa_length": 2098,
"cds_start": 1931,
"cds_end": null,
"cds_length": 6297,
"cdna_start": 2072,
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"cdna_length": 6594,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 55,
"intron_rank": null,
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"gene_symbol": "DYSF",
"gene_hgnc_id": 3097,
"hgvs_c": "c.1928T>C",
"hgvs_p": "p.Met643Thr",
"transcript": "ENST00000409762.5",
"protein_id": "ENSP00000387137.1",
"transcript_support_level": 1,
"aa_start": 643,
"aa_end": null,
"aa_length": 2097,
"cds_start": 1928,
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"cdna_start": 2205,
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"mane_select": null,
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"feature": null
},
{
"aa_ref": "M",
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"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
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"exon_count": 55,
"intron_rank": null,
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"gene_symbol": "DYSF",
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"hgvs_p": "p.Met613Thr",
"transcript": "ENST00000409744.5",
"protein_id": "ENSP00000386285.1",
"transcript_support_level": 1,
"aa_start": 613,
"aa_end": null,
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"cds_start": 1838,
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"cdna_start": 1979,
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"mane_select": null,
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"feature": null
},
{
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"aa_alt": "T",
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"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 55,
"intron_rank": null,
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"gene_symbol": "DYSF",
"gene_hgnc_id": 3097,
"hgvs_c": "c.1880T>C",
"hgvs_p": "p.Met627Thr",
"transcript": "ENST00000394120.6",
"protein_id": "ENSP00000377678.2",
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"cds_start": 1880,
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"cdna_start": 2021,
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
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],
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"intron_rank": null,
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"gene_symbol": "DYSF",
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"transcript": "NM_001130981.2",
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
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"gene_symbol": "DYSF",
"gene_hgnc_id": 3097,
"hgvs_c": "c.1973T>C",
"hgvs_p": "p.Met658Thr",
"transcript": "NM_001130982.2",
"protein_id": "NP_001124454.1",
"transcript_support_level": null,
"aa_start": 658,
"aa_end": null,
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"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 21,
"exon_rank_end": null,
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"intron_rank": null,
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"gene_symbol": "DYSF",
"gene_hgnc_id": 3097,
"hgvs_c": "c.1970T>C",
"hgvs_p": "p.Met657Thr",
"transcript": "NM_001130979.2",
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},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
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"gene_symbol": "DYSF",
"gene_hgnc_id": 3097,
"hgvs_c": "c.1880T>C",
"hgvs_p": "p.Met627Thr",
"transcript": "NM_001130983.2",
"protein_id": "NP_001124455.1",
"transcript_support_level": null,
"aa_start": 627,
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"aa_length": 2102,
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"mane_select": null,
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"feature": null
},
{
"aa_ref": "M",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYSF",
"gene_hgnc_id": 3097,
"hgvs_c": "c.1877T>C",
"hgvs_p": "p.Met626Thr",
"transcript": "NM_001130978.2",
"protein_id": "NP_001124450.1",
"transcript_support_level": null,
"aa_start": 626,
"aa_end": null,
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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.1931T>C",
"hgvs_p": "p.Met644Thr",
"transcript": "NM_001130985.2",
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},
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"protein_coding": true,
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"consequences": [
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],
"exon_rank": 20,
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"intron_rank": null,
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"gene_symbol": "DYSF",
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"hgvs_p": "p.Met643Thr",
"transcript": "NM_001130980.2",
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},
{
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],
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"gene_symbol": "DYSF",
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"transcript": "NM_001130984.2",
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"feature": null
},
{
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"aa_alt": "T",
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"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
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"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYSF",
"gene_hgnc_id": 3097,
"hgvs_c": "c.1835T>C",
"hgvs_p": "p.Met612Thr",
"transcript": "NM_001130977.2",
"protein_id": "NP_001124449.1",
"transcript_support_level": null,
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"cds_start": 1835,
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
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"gene_symbol": "DYSF",
"gene_hgnc_id": 3097,
"hgvs_c": "c.1880T>C",
"hgvs_p": "p.Met627Thr",
"transcript": "NM_001130455.2",
"protein_id": "NP_001123927.1",
"transcript_support_level": null,
"aa_start": 627,
"aa_end": null,
"aa_length": 2081,
"cds_start": 1880,
"cds_end": null,
"cds_length": 6246,
"cdna_start": 2024,
"cdna_end": null,
"cdna_length": 6661,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 54,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYSF",
"gene_hgnc_id": 3097,
"hgvs_c": "c.1838T>C",
"hgvs_p": "p.Met613Thr",
"transcript": "NM_001130986.2",
"protein_id": "NP_001124458.1",
"transcript_support_level": null,
"aa_start": 613,
"aa_end": null,
"aa_length": 2067,
"cds_start": 1838,
"cds_end": null,
"cds_length": 6204,
"cdna_start": 1982,
"cdna_end": null,
"cdna_length": 6619,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 54,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYSF",
"gene_hgnc_id": 3097,
"hgvs_c": "c.1835T>C",
"hgvs_p": "p.Met612Thr",
"transcript": "NM_001130976.2",
"protein_id": "NP_001124448.1",
"transcript_support_level": null,
"aa_start": 612,
"aa_end": null,
"aa_length": 2066,
"cds_start": 1835,
"cds_end": null,
"cds_length": 6201,
"cdna_start": 2273,
"cdna_end": null,
"cdna_length": 6910,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "DYSF",
"gene_hgnc_id": 3097,
"dbsnp": "rs141867897",
"frequency_reference_population": 0.0018097243,
"hom_count_reference_population": 8,
"allele_count_reference_population": 2921,
"gnomad_exomes_af": 0.001882,
"gnomad_genomes_af": 0.0011161,
"gnomad_exomes_ac": 2751,
"gnomad_genomes_ac": 170,
"gnomad_exomes_homalt": 8,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0051326751708984375,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.122,
"revel_prediction": "Benign",
"alphamissense_score": 0.0522,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.53,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.008,
"phylop100way_prediction": "Benign",
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BS1",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BS1"
],
"verdict": "Likely_benign",
"transcript": "ENST00000410020.8",
"gene_symbol": "DYSF",
"hgnc_id": 3097,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1931T>C",
"hgvs_p": "p.Met644Thr"
}
],
"clinvar_disease": "Autosomal recessive limb-girdle muscular dystrophy,DYSF-related disorder,Miyoshi muscular dystrophy 1,Neuromuscular disease caused by qualitative or quantitative defects of dysferlin,not provided,not specified",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "reviewed by expert panel",
"clinvar_submissions_summary": "US:3 LB:5",
"phenotype_combined": "not specified|not provided|Neuromuscular disease caused by qualitative or quantitative defects of dysferlin|Miyoshi muscular dystrophy 1|DYSF-related disorder|Autosomal recessive limb-girdle muscular dystrophy",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}