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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: 22-33283252-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=33283252&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 33283252,
"ref": "T",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "ENST00000397394.8",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARGE1",
"gene_hgnc_id": 6511,
"hgvs_c": "c.1827A>G",
"hgvs_p": "p.Ser609Ser",
"transcript": "NM_133642.5",
"protein_id": "NP_598397.1",
"transcript_support_level": null,
"aa_start": 609,
"aa_end": null,
"aa_length": 756,
"cds_start": 1827,
"cds_end": null,
"cds_length": 2271,
"cdna_start": 2391,
"cdna_end": null,
"cdna_length": 4753,
"mane_select": "ENST00000397394.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARGE1",
"gene_hgnc_id": 6511,
"hgvs_c": "c.1827A>G",
"hgvs_p": "p.Ser609Ser",
"transcript": "ENST00000397394.8",
"protein_id": "ENSP00000380549.2",
"transcript_support_level": 5,
"aa_start": 609,
"aa_end": null,
"aa_length": 756,
"cds_start": 1827,
"cds_end": null,
"cds_length": 2271,
"cdna_start": 2391,
"cdna_end": null,
"cdna_length": 4753,
"mane_select": "NM_133642.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARGE1",
"gene_hgnc_id": 6511,
"hgvs_c": "c.1827A>G",
"hgvs_p": "p.Ser609Ser",
"transcript": "ENST00000354992.7",
"protein_id": "ENSP00000347088.2",
"transcript_support_level": 1,
"aa_start": 609,
"aa_end": null,
"aa_length": 756,
"cds_start": 1827,
"cds_end": null,
"cds_length": 2271,
"cdna_start": 2399,
"cdna_end": null,
"cdna_length": 4193,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARGE1",
"gene_hgnc_id": 6511,
"hgvs_c": "c.1671A>G",
"hgvs_p": "p.Ser557Ser",
"transcript": "ENST00000402320.6",
"protein_id": "ENSP00000385223.1",
"transcript_support_level": 1,
"aa_start": 557,
"aa_end": null,
"aa_length": 704,
"cds_start": 1671,
"cds_end": null,
"cds_length": 2115,
"cdna_start": 2173,
"cdna_end": null,
"cdna_length": 3967,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARGE1",
"gene_hgnc_id": 6511,
"hgvs_c": "c.1827A>G",
"hgvs_p": "p.Ser609Ser",
"transcript": "NM_001362949.2",
"protein_id": "NP_001349878.1",
"transcript_support_level": null,
"aa_start": 609,
"aa_end": null,
"aa_length": 756,
"cds_start": 1827,
"cds_end": null,
"cds_length": 2271,
"cdna_start": 2176,
"cdna_end": null,
"cdna_length": 4538,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARGE1",
"gene_hgnc_id": 6511,
"hgvs_c": "c.1827A>G",
"hgvs_p": "p.Ser609Ser",
"transcript": "NM_001362951.2",
"protein_id": "NP_001349880.1",
"transcript_support_level": null,
"aa_start": 609,
"aa_end": null,
"aa_length": 756,
"cds_start": 1827,
"cds_end": null,
"cds_length": 2271,
"cdna_start": 1996,
"cdna_end": null,
"cdna_length": 4358,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARGE1",
"gene_hgnc_id": 6511,
"hgvs_c": "c.1827A>G",
"hgvs_p": "p.Ser609Ser",
"transcript": "NM_001362953.2",
"protein_id": "NP_001349882.1",
"transcript_support_level": null,
"aa_start": 609,
"aa_end": null,
"aa_length": 756,
"cds_start": 1827,
"cds_end": null,
"cds_length": 2271,
"cdna_start": 2113,
"cdna_end": null,
"cdna_length": 4475,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARGE1",
"gene_hgnc_id": 6511,
"hgvs_c": "c.1827A>G",
"hgvs_p": "p.Ser609Ser",
"transcript": "NM_001378624.1",
"protein_id": "NP_001365553.1",
"transcript_support_level": null,
"aa_start": 609,
"aa_end": null,
"aa_length": 756,
"cds_start": 1827,
"cds_end": null,
"cds_length": 2271,
"cdna_start": 2059,
"cdna_end": null,
"cdna_length": 4421,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARGE1",
"gene_hgnc_id": 6511,
"hgvs_c": "c.1827A>G",
"hgvs_p": "p.Ser609Ser",
"transcript": "NM_001378625.1",
"protein_id": "NP_001365554.1",
"transcript_support_level": null,
"aa_start": 609,
"aa_end": null,
"aa_length": 756,
"cds_start": 1827,
"cds_end": null,
"cds_length": 2271,
"cdna_start": 2194,
"cdna_end": null,
"cdna_length": 4556,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARGE1",
"gene_hgnc_id": 6511,
"hgvs_c": "c.1827A>G",
"hgvs_p": "p.Ser609Ser",
"transcript": "NM_001378626.1",
"protein_id": "NP_001365555.1",
"transcript_support_level": null,
"aa_start": 609,
"aa_end": null,
"aa_length": 756,
"cds_start": 1827,
"cds_end": null,
"cds_length": 2271,
"cdna_start": 2131,
"cdna_end": null,
"cdna_length": 4493,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARGE1",
"gene_hgnc_id": 6511,
"hgvs_c": "c.1827A>G",
"hgvs_p": "p.Ser609Ser",
"transcript": "NM_004737.7",
"protein_id": "NP_004728.1",
"transcript_support_level": null,
"aa_start": 609,
"aa_end": null,
"aa_length": 756,
"cds_start": 1827,
"cds_end": null,
"cds_length": 2271,
"cdna_start": 2454,
"cdna_end": null,
"cdna_length": 4816,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARGE1",
"gene_hgnc_id": 6511,
"hgvs_c": "c.1827A>G",
"hgvs_p": "p.Ser609Ser",
"transcript": "ENST00000413114.6",
"protein_id": "ENSP00000415546.2",
"transcript_support_level": 4,
"aa_start": 609,
"aa_end": null,
"aa_length": 756,
"cds_start": 1827,
"cds_end": null,
"cds_length": 2271,
"cdna_start": 2193,
"cdna_end": null,
"cdna_length": 3987,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARGE1",
"gene_hgnc_id": 6511,
"hgvs_c": "c.1827A>G",
"hgvs_p": "p.Ser609Ser",
"transcript": "ENST00000675416.1",
"protein_id": "ENSP00000502826.1",
"transcript_support_level": null,
"aa_start": 609,
"aa_end": null,
"aa_length": 756,
"cds_start": 1827,
"cds_end": null,
"cds_length": 2271,
"cdna_start": 2030,
"cdna_end": null,
"cdna_length": 3824,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARGE1",
"gene_hgnc_id": 6511,
"hgvs_c": "c.1827A>G",
"hgvs_p": "p.Ser609Ser",
"transcript": "ENST00000676070.1",
"protein_id": "ENSP00000502152.1",
"transcript_support_level": null,
"aa_start": 609,
"aa_end": null,
"aa_length": 756,
"cds_start": 1827,
"cds_end": null,
"cds_length": 2271,
"cdna_start": 2118,
"cdna_end": null,
"cdna_length": 3912,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARGE1",
"gene_hgnc_id": 6511,
"hgvs_c": "c.1827A>G",
"hgvs_p": "p.Ser609Ser",
"transcript": "ENST00000676132.1",
"protein_id": "ENSP00000501854.1",
"transcript_support_level": null,
"aa_start": 609,
"aa_end": null,
"aa_length": 756,
"cds_start": 1827,
"cds_end": null,
"cds_length": 2271,
"cdna_start": 2028,
"cdna_end": null,
"cdna_length": 3822,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARGE1",
"gene_hgnc_id": 6511,
"hgvs_c": "c.1827A>G",
"hgvs_p": "p.Ser609Ser",
"transcript": "ENST00000676370.1",
"protein_id": "ENSP00000502238.1",
"transcript_support_level": null,
"aa_start": 609,
"aa_end": null,
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"cds_start": 1827,
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"cdna_start": 2029,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARGE1",
"gene_hgnc_id": 6511,
"hgvs_c": "c.1701A>G",
"hgvs_p": "p.Ser567Ser",
"transcript": "ENST00000674668.1",
"protein_id": "ENSP00000502103.1",
"transcript_support_level": null,
"aa_start": 567,
"aa_end": null,
"aa_length": 714,
"cds_start": 1701,
"cds_end": null,
"cds_length": 2145,
"cdna_start": 1783,
"cdna_end": null,
"cdna_length": 3577,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARGE1",
"gene_hgnc_id": 6511,
"hgvs_c": "c.1671A>G",
"hgvs_p": "p.Ser557Ser",
"transcript": "NM_001378629.1",
"protein_id": "NP_001365558.1",
"transcript_support_level": null,
"aa_start": 557,
"aa_end": null,
"aa_length": 704,
"cds_start": 1671,
"cds_end": null,
"cds_length": 2115,
"cdna_start": 2235,
"cdna_end": null,
"cdna_length": 4597,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARGE1",
"gene_hgnc_id": 6511,
"hgvs_c": "c.1623A>G",
"hgvs_p": "p.Ser541Ser",
"transcript": "ENST00000674999.1",
"protein_id": "ENSP00000502711.1",
"transcript_support_level": null,
"aa_start": 541,
"aa_end": null,
"aa_length": 688,
"cds_start": 1623,
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"cdna_start": 1976,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARGE1",
"gene_hgnc_id": 6511,
"hgvs_c": "c.1623A>G",
"hgvs_p": "p.Ser541Ser",
"transcript": "ENST00000675277.1",
"protein_id": "ENSP00000502702.1",
"transcript_support_level": null,
"aa_start": 541,
"aa_end": null,
"aa_length": 688,
"cds_start": 1623,
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"cds_length": 2067,
"cdna_start": 1869,
"cdna_end": null,
"cdna_length": 2355,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARGE1",
"gene_hgnc_id": 6511,
"hgvs_c": "c.1548A>G",
"hgvs_p": "p.Ser516Ser",
"transcript": "ENST00000676126.1",
"protein_id": "ENSP00000501966.1",
"transcript_support_level": null,
"aa_start": 516,
"aa_end": null,
"aa_length": 663,
"cds_start": 1548,
"cds_end": null,
"cds_length": 1992,
"cdna_start": 1630,
"cdna_end": null,
"cdna_length": 3424,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARGE1",
"gene_hgnc_id": 6511,
"hgvs_c": "c.1827A>G",
"hgvs_p": "p.Ser609Ser",
"transcript": "ENST00000610186.6",
"protein_id": "ENSP00000476364.2",
"transcript_support_level": 5,
"aa_start": 609,
"aa_end": null,
"aa_length": 648,
"cds_start": 1827,
"cds_end": null,
"cds_length": 1947,
"cdna_start": 1827,
"cdna_end": null,
"cdna_length": 6484,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARGE1",
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"exon_count": 12,
"intron_rank": 11,
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"gene_symbol": "LARGE1",
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"hgvs_c": "c.1730+20977A>G",
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"transcript": "ENST00000608642.6",
"protein_id": "ENSP00000476866.2",
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"aa_start": null,
"aa_end": null,
"aa_length": 599,
"cds_start": -4,
"cds_end": null,
"cds_length": 1800,
"cdna_start": null,
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"cdna_length": 6337,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 11,
"intron_rank": 10,
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"gene_symbol": "LARGE1",
"gene_hgnc_id": 6511,
"hgvs_c": "c.1451+32833A>G",
"hgvs_p": null,
"transcript": "ENST00000609799.6",
"protein_id": "ENSP00000476415.2",
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"aa_start": null,
"aa_end": null,
"aa_length": 506,
"cds_start": -4,
"cds_end": null,
"cds_length": 1521,
"cdna_start": null,
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"cdna_length": 6058,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 7,
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"gene_symbol": "LARGE1",
"gene_hgnc_id": 6511,
"hgvs_c": "c.972-5997A>G",
"hgvs_p": null,
"transcript": "NM_001378631.1",
"protein_id": "NP_001365560.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 454,
"cds_start": -4,
"cds_end": null,
"cds_length": 1365,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3389,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "LARGE1",
"gene_hgnc_id": 6511,
"dbsnp": "rs11913417",
"frequency_reference_population": 0.009761356,
"hom_count_reference_population": 386,
"allele_count_reference_population": 15756,
"gnomad_exomes_af": 0.00845278,
"gnomad_genomes_af": 0.0223275,
"gnomad_exomes_ac": 12357,
"gnomad_genomes_ac": 3399,
"gnomad_exomes_homalt": 296,
"gnomad_genomes_homalt": 90,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.9200000166893005,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.92,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.836,
"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": -21,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BA1",
"acmg_by_gene": [
{
"score": -21,
"benign_score": 21,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000397394.8",
"gene_symbol": "LARGE1",
"hgnc_id": 6511,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1827A>G",
"hgvs_p": "p.Ser609Ser"
}
],
"clinvar_disease": " type A6,Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies),Muscular dystrophy-dystroglycanopathy type B6,not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:7",
"phenotype_combined": "not specified|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6|Muscular dystrophy-dystroglycanopathy type B6|not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}