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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: 9-131519447-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=131519447&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 131519447,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000402686.8",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMT1",
"gene_hgnc_id": 9202,
"hgvs_c": "c.1545C>G",
"hgvs_p": "p.Ser515Arg",
"transcript": "NM_001077365.2",
"protein_id": "NP_001070833.1",
"transcript_support_level": null,
"aa_start": 515,
"aa_end": null,
"aa_length": 725,
"cds_start": 1545,
"cds_end": null,
"cds_length": 2178,
"cdna_start": 1731,
"cdna_end": null,
"cdna_length": 3057,
"mane_select": "ENST00000402686.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMT1",
"gene_hgnc_id": 9202,
"hgvs_c": "c.1545C>G",
"hgvs_p": "p.Ser515Arg",
"transcript": "ENST00000402686.8",
"protein_id": "ENSP00000385797.4",
"transcript_support_level": 1,
"aa_start": 515,
"aa_end": null,
"aa_length": 725,
"cds_start": 1545,
"cds_end": null,
"cds_length": 2178,
"cdna_start": 1731,
"cdna_end": null,
"cdna_length": 3057,
"mane_select": "NM_001077365.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMT1",
"gene_hgnc_id": 9202,
"hgvs_c": "c.1611C>G",
"hgvs_p": "p.Ser537Arg",
"transcript": "ENST00000372228.9",
"protein_id": "ENSP00000361302.3",
"transcript_support_level": 1,
"aa_start": 537,
"aa_end": null,
"aa_length": 747,
"cds_start": 1611,
"cds_end": null,
"cds_length": 2244,
"cdna_start": 1926,
"cdna_end": null,
"cdna_length": 3252,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMT1",
"gene_hgnc_id": 9202,
"hgvs_c": "c.1602C>G",
"hgvs_p": "p.Ser534Arg",
"transcript": "ENST00000423007.6",
"protein_id": "ENSP00000404119.2",
"transcript_support_level": 1,
"aa_start": 534,
"aa_end": null,
"aa_length": 744,
"cds_start": 1602,
"cds_end": null,
"cds_length": 2235,
"cdna_start": 1602,
"cdna_end": null,
"cdna_length": 2235,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMT1",
"gene_hgnc_id": 9202,
"hgvs_c": "c.1611C>G",
"hgvs_p": "p.Ser537Arg",
"transcript": "NM_001353193.2",
"protein_id": "NP_001340122.2",
"transcript_support_level": null,
"aa_start": 537,
"aa_end": null,
"aa_length": 747,
"cds_start": 1611,
"cds_end": null,
"cds_length": 2244,
"cdna_start": 2037,
"cdna_end": null,
"cdna_length": 3363,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMT1",
"gene_hgnc_id": 9202,
"hgvs_c": "c.1611C>G",
"hgvs_p": "p.Ser537Arg",
"transcript": "NM_007171.4",
"protein_id": "NP_009102.4",
"transcript_support_level": null,
"aa_start": 537,
"aa_end": null,
"aa_length": 747,
"cds_start": 1611,
"cds_end": null,
"cds_length": 2244,
"cdna_start": 1797,
"cdna_end": null,
"cdna_length": 3123,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMT1",
"gene_hgnc_id": 9202,
"hgvs_c": "c.1545C>G",
"hgvs_p": "p.Ser515Arg",
"transcript": "NM_001136113.2",
"protein_id": "NP_001129585.1",
"transcript_support_level": null,
"aa_start": 515,
"aa_end": null,
"aa_length": 725,
"cds_start": 1545,
"cds_end": null,
"cds_length": 2178,
"cdna_start": 1971,
"cdna_end": null,
"cdna_length": 3297,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMT1",
"gene_hgnc_id": 9202,
"hgvs_c": "c.1545C>G",
"hgvs_p": "p.Ser515Arg",
"transcript": "ENST00000676640.1",
"protein_id": "ENSP00000503281.1",
"transcript_support_level": null,
"aa_start": 515,
"aa_end": null,
"aa_length": 725,
"cds_start": 1545,
"cds_end": null,
"cds_length": 2178,
"cdna_start": 1983,
"cdna_end": null,
"cdna_length": 3309,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMT1",
"gene_hgnc_id": 9202,
"hgvs_c": "c.1533C>G",
"hgvs_p": "p.Ser511Arg",
"transcript": "NM_001374689.1",
"protein_id": "NP_001361618.1",
"transcript_support_level": null,
"aa_start": 511,
"aa_end": null,
"aa_length": 721,
"cds_start": 1533,
"cds_end": null,
"cds_length": 2166,
"cdna_start": 1729,
"cdna_end": null,
"cdna_length": 3055,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMT1",
"gene_hgnc_id": 9202,
"hgvs_c": "c.1455C>G",
"hgvs_p": "p.Ser485Arg",
"transcript": "NM_001353196.2",
"protein_id": "NP_001340125.1",
"transcript_support_level": null,
"aa_start": 485,
"aa_end": null,
"aa_length": 695,
"cds_start": 1455,
"cds_end": null,
"cds_length": 2088,
"cdna_start": 1641,
"cdna_end": null,
"cdna_length": 2967,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMT1",
"gene_hgnc_id": 9202,
"hgvs_c": "c.1455C>G",
"hgvs_p": "p.Ser485Arg",
"transcript": "ENST00000678303.1",
"protein_id": "ENSP00000503696.1",
"transcript_support_level": null,
"aa_start": 485,
"aa_end": null,
"aa_length": 695,
"cds_start": 1455,
"cds_end": null,
"cds_length": 2088,
"cdna_start": 1611,
"cdna_end": null,
"cdna_length": 2573,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMT1",
"gene_hgnc_id": 9202,
"hgvs_c": "c.1449C>G",
"hgvs_p": "p.Ser483Arg",
"transcript": "NM_001353197.2",
"protein_id": "NP_001340126.2",
"transcript_support_level": null,
"aa_start": 483,
"aa_end": null,
"aa_length": 693,
"cds_start": 1449,
"cds_end": null,
"cds_length": 2082,
"cdna_start": 1645,
"cdna_end": null,
"cdna_length": 2971,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMT1",
"gene_hgnc_id": 9202,
"hgvs_c": "c.1449C>G",
"hgvs_p": "p.Ser483Arg",
"transcript": "NM_001353198.2",
"protein_id": "NP_001340127.2",
"transcript_support_level": null,
"aa_start": 483,
"aa_end": null,
"aa_length": 693,
"cds_start": 1449,
"cds_end": null,
"cds_length": 2082,
"cdna_start": 2346,
"cdna_end": null,
"cdna_length": 3672,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMT1",
"gene_hgnc_id": 9202,
"hgvs_c": "c.1383C>G",
"hgvs_p": "p.Ser461Arg",
"transcript": "NM_001077366.2",
"protein_id": "NP_001070834.1",
"transcript_support_level": null,
"aa_start": 461,
"aa_end": null,
"aa_length": 671,
"cds_start": 1383,
"cds_end": null,
"cds_length": 2016,
"cdna_start": 1579,
"cdna_end": null,
"cdna_length": 2905,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMT1",
"gene_hgnc_id": 9202,
"hgvs_c": "c.1383C>G",
"hgvs_p": "p.Ser461Arg",
"transcript": "NM_001353194.2",
"protein_id": "NP_001340123.1",
"transcript_support_level": null,
"aa_start": 461,
"aa_end": null,
"aa_length": 671,
"cds_start": 1383,
"cds_end": null,
"cds_length": 2016,
"cdna_start": 1819,
"cdna_end": null,
"cdna_length": 3145,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMT1",
"gene_hgnc_id": 9202,
"hgvs_c": "c.1383C>G",
"hgvs_p": "p.Ser461Arg",
"transcript": "ENST00000341012.13",
"protein_id": "ENSP00000343034.7",
"transcript_support_level": 2,
"aa_start": 461,
"aa_end": null,
"aa_length": 671,
"cds_start": 1383,
"cds_end": null,
"cds_length": 2016,
"cdna_start": 1602,
"cdna_end": null,
"cdna_length": 2935,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMT1",
"gene_hgnc_id": 9202,
"hgvs_c": "c.1260C>G",
"hgvs_p": "p.Ser420Arg",
"transcript": "NM_001353199.2",
"protein_id": "NP_001340128.2",
"transcript_support_level": null,
"aa_start": 420,
"aa_end": null,
"aa_length": 630,
"cds_start": 1260,
"cds_end": null,
"cds_length": 1893,
"cdna_start": 1538,
"cdna_end": null,
"cdna_length": 2864,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMT1",
"gene_hgnc_id": 9202,
"hgvs_c": "c.1194C>G",
"hgvs_p": "p.Ser398Arg",
"transcript": "NM_001136114.2",
"protein_id": "NP_001129586.1",
"transcript_support_level": null,
"aa_start": 398,
"aa_end": null,
"aa_length": 608,
"cds_start": 1194,
"cds_end": null,
"cds_length": 1827,
"cdna_start": 1472,
"cdna_end": null,
"cdna_length": 2798,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMT1",
"gene_hgnc_id": 9202,
"hgvs_c": "c.1194C>G",
"hgvs_p": "p.Ser398Arg",
"transcript": "NM_001353195.2",
"protein_id": "NP_001340124.1",
"transcript_support_level": null,
"aa_start": 398,
"aa_end": null,
"aa_length": 608,
"cds_start": 1194,
"cds_end": null,
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"cdna_start": 1624,
"cdna_end": null,
"cdna_length": 2950,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMT1",
"gene_hgnc_id": 9202,
"hgvs_c": "c.1194C>G",
"hgvs_p": "p.Ser398Arg",
"transcript": "NM_001374691.1",
"protein_id": "NP_001361620.1",
"transcript_support_level": null,
"aa_start": 398,
"aa_end": null,
"aa_length": 608,
"cds_start": 1194,
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"cds_length": 1827,
"cdna_start": 1661,
"cdna_end": null,
"cdna_length": 2987,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMT1",
"gene_hgnc_id": 9202,
"hgvs_c": "c.1194C>G",
"hgvs_p": "p.Ser398Arg",
"transcript": "NM_001374692.1",
"protein_id": "NP_001361621.1",
"transcript_support_level": null,
"aa_start": 398,
"aa_end": null,
"aa_length": 608,
"cds_start": 1194,
"cds_end": null,
"cds_length": 1827,
"cdna_start": 1573,
"cdna_end": null,
"cdna_length": 2899,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMT1",
"gene_hgnc_id": 9202,
"hgvs_c": "c.1194C>G",
"hgvs_p": "p.Ser398Arg",
"transcript": "NM_001374693.1",
"protein_id": "NP_001361622.1",
"transcript_support_level": null,
"aa_start": 398,
"aa_end": null,
"aa_length": 608,
"cds_start": 1194,
"cds_end": null,
"cds_length": 1827,
"cdna_start": 1390,
"cdna_end": null,
"cdna_length": 2716,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMT1",
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"aa_length": null,
"cds_start": -4,
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"cds_length": null,
"cdna_start": null,
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"cdna_length": 2323,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
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"gene_symbol": "POMT1",
"gene_hgnc_id": 9202,
"hgvs_c": "n.*301C>G",
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"transcript": "ENST00000679111.1",
"protein_id": "ENSP00000504257.1",
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"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"cdna_length": 3164,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 18,
"intron_rank": 14,
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"gene_symbol": "POMT1",
"gene_hgnc_id": 9202,
"hgvs_c": "c.1366-633C>G",
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"transcript": "NM_001374690.1",
"protein_id": "NP_001361619.1",
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"aa_start": null,
"aa_end": null,
"aa_length": 652,
"cds_start": -4,
"cds_end": null,
"cds_length": 1959,
"cdna_start": null,
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"cdna_length": 2838,
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"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000230289",
"gene_hgnc_id": null,
"hgvs_c": "n.63-2479G>C",
"hgvs_p": null,
"transcript": "ENST00000415423.1",
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"transcript_support_level": 3,
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"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"cdna_length": 473,
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"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "POMT1",
"gene_hgnc_id": 9202,
"dbsnp": "rs150367385",
"frequency_reference_population": 0.0011621836,
"hom_count_reference_population": 2,
"allele_count_reference_population": 1803,
"gnomad_exomes_af": 0.00115787,
"gnomad_genomes_af": 0.00120178,
"gnomad_exomes_ac": 1620,
"gnomad_genomes_ac": 183,
"gnomad_exomes_homalt": 2,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.015325069427490234,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.508,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.2467,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.05,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 1.254,
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS1,BS2",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000402686.8",
"gene_symbol": "POMT1",
"hgnc_id": 9202,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1545C>G",
"hgvs_p": "p.Ser515Arg"
},
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000415423.1",
"gene_symbol": "ENSG00000230289",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.63-2479G>C",
"hgvs_p": null
}
],
"clinvar_disease": " type A1, type B1,Autosomal recessive limb-girdle muscular dystrophy type 2K,Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies),Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability),Walker-Warburg congenital muscular dystrophy,not provided,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:7 B:4",
"phenotype_combined": "not provided|not specified|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1|Autosomal recessive limb-girdle muscular dystrophy type 2K|Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1;Autosomal recessive limb-girdle muscular dystrophy type 2K;Walker-Warburg congenital muscular dystrophy",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}