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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: 3-49530935-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=49530935&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 49530935,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000308775.7",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "c.424G>A",
"hgvs_p": "p.Gly142Arg",
"transcript": "NM_004393.6",
"protein_id": "NP_004384.5",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 895,
"cds_start": 424,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 707,
"cdna_end": null,
"cdna_length": 5387,
"mane_select": "ENST00000308775.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "c.424G>A",
"hgvs_p": "p.Gly142Arg",
"transcript": "ENST00000308775.7",
"protein_id": "ENSP00000312435.2",
"transcript_support_level": 1,
"aa_start": 142,
"aa_end": null,
"aa_length": 895,
"cds_start": 424,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 707,
"cdna_end": null,
"cdna_length": 5387,
"mane_select": "NM_004393.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "c.424G>A",
"hgvs_p": "p.Gly142Arg",
"transcript": "NM_001165928.4",
"protein_id": "NP_001159400.3",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 895,
"cds_start": 424,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 1068,
"cdna_end": null,
"cdna_length": 5748,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "c.424G>A",
"hgvs_p": "p.Gly142Arg",
"transcript": "NM_001177634.3",
"protein_id": "NP_001171105.2",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 895,
"cds_start": 424,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 1011,
"cdna_end": null,
"cdna_length": 5691,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "c.424G>A",
"hgvs_p": "p.Gly142Arg",
"transcript": "NM_001177635.3",
"protein_id": "NP_001171106.2",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 895,
"cds_start": 424,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 600,
"cdna_end": null,
"cdna_length": 5280,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "c.424G>A",
"hgvs_p": "p.Gly142Arg",
"transcript": "NM_001177636.3",
"protein_id": "NP_001171107.2",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 895,
"cds_start": 424,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 989,
"cdna_end": null,
"cdna_length": 5669,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "c.424G>A",
"hgvs_p": "p.Gly142Arg",
"transcript": "NM_001177637.3",
"protein_id": "NP_001171108.2",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 895,
"cds_start": 424,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 827,
"cdna_end": null,
"cdna_length": 5507,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "c.424G>A",
"hgvs_p": "p.Gly142Arg",
"transcript": "NM_001177638.3",
"protein_id": "NP_001171109.2",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 895,
"cds_start": 424,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 858,
"cdna_end": null,
"cdna_length": 5538,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "c.424G>A",
"hgvs_p": "p.Gly142Arg",
"transcript": "NM_001177639.3",
"protein_id": "NP_001171110.2",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 895,
"cds_start": 424,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 548,
"cdna_end": null,
"cdna_length": 5228,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "c.424G>A",
"hgvs_p": "p.Gly142Arg",
"transcript": "NM_001177640.3",
"protein_id": "NP_001171111.2",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 895,
"cds_start": 424,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 764,
"cdna_end": null,
"cdna_length": 5444,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "c.424G>A",
"hgvs_p": "p.Gly142Arg",
"transcript": "NM_001177641.3",
"protein_id": "NP_001171112.2",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 895,
"cds_start": 424,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 854,
"cdna_end": null,
"cdna_length": 5534,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "c.424G>A",
"hgvs_p": "p.Gly142Arg",
"transcript": "NM_001177642.3",
"protein_id": "NP_001171113.2",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 895,
"cds_start": 424,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 759,
"cdna_end": null,
"cdna_length": 5439,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "c.424G>A",
"hgvs_p": "p.Gly142Arg",
"transcript": "NM_001177643.3",
"protein_id": "NP_001171114.2",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 895,
"cds_start": 424,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 648,
"cdna_end": null,
"cdna_length": 5328,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "c.424G>A",
"hgvs_p": "p.Gly142Arg",
"transcript": "NM_001177644.3",
"protein_id": "NP_001171115.2",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 895,
"cds_start": 424,
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"cdna_start": 847,
"cdna_end": null,
"cdna_length": 5527,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "c.424G>A",
"hgvs_p": "p.Gly142Arg",
"transcript": "NM_001438880.1",
"protein_id": "NP_001425809.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 895,
"cds_start": 424,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 1352,
"cdna_end": null,
"cdna_length": 6032,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "c.424G>A",
"hgvs_p": "p.Gly142Arg",
"transcript": "NM_001438881.1",
"protein_id": "NP_001425810.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 895,
"cds_start": 424,
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"cdna_start": 1282,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "c.424G>A",
"hgvs_p": "p.Gly142Arg",
"transcript": "NM_001438882.1",
"protein_id": "NP_001425811.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 895,
"cds_start": 424,
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"cds_length": 2688,
"cdna_start": 1225,
"cdna_end": null,
"cdna_length": 5905,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "c.424G>A",
"hgvs_p": "p.Gly142Arg",
"transcript": "NM_001438883.1",
"protein_id": "NP_001425812.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 895,
"cds_start": 424,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 849,
"cdna_end": null,
"cdna_length": 5529,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "c.424G>A",
"hgvs_p": "p.Gly142Arg",
"transcript": "NM_001438884.1",
"protein_id": "NP_001425813.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 895,
"cds_start": 424,
"cds_end": null,
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"cdna_start": 1094,
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"mane_select": null,
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"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "c.424G>A",
"hgvs_p": "p.Gly142Arg",
"transcript": "NM_001438885.1",
"protein_id": "NP_001425814.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 895,
"cds_start": 424,
"cds_end": null,
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"cdna_start": 915,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "c.424G>A",
"hgvs_p": "p.Gly142Arg",
"transcript": "NM_001438886.1",
"protein_id": "NP_001425815.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 895,
"cds_start": 424,
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"cdna_start": 1000,
"cdna_end": null,
"cdna_length": 5680,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "c.424G>A",
"hgvs_p": "p.Gly142Arg",
"transcript": "NM_001438887.1",
"protein_id": "NP_001425816.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 895,
"cds_start": 424,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 1277,
"cdna_end": null,
"cdna_length": 5957,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "c.424G>A",
"hgvs_p": "p.Gly142Arg",
"transcript": "NM_001438888.1",
"protein_id": "NP_001425817.1",
"transcript_support_level": null,
"aa_start": 142,
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"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "n.*24G>A",
"hgvs_p": null,
"transcript": "ENST00000479935.1",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 711,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "DAG1",
"gene_hgnc_id": 2666,
"dbsnp": "rs749962207",
"frequency_reference_population": 0.000008053954,
"hom_count_reference_population": 0,
"allele_count_reference_population": 13,
"gnomad_exomes_af": 0.00000615657,
"gnomad_genomes_af": 0.0000262705,
"gnomad_exomes_ac": 9,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5799340605735779,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.568,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.2448,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.15,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.694,
"phylop100way_prediction": "Pathogenic",
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "ENST00000308775.7",
"gene_symbol": "DAG1",
"hgnc_id": 2666,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.424G>A",
"hgvs_p": "p.Gly142Arg"
}
],
"clinvar_disease": " type A9,Autosomal recessive limb-girdle muscular dystrophy type 2P,Inborn genetic diseases,Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies),not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:4",
"phenotype_combined": "Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9;Autosomal recessive limb-girdle muscular dystrophy type 2P|not provided|Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}