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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: 19-46756837-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=46756837&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 46756837,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_024301.5",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "D",
"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": "FKRP",
"gene_hgnc_id": 17997,
"hgvs_c": "c.1387A>G",
"hgvs_p": "p.Asn463Asp",
"transcript": "NM_024301.5",
"protein_id": "NP_077277.1",
"transcript_support_level": null,
"aa_start": 463,
"aa_end": null,
"aa_length": 495,
"cds_start": 1387,
"cds_end": null,
"cds_length": 1488,
"cdna_start": 1673,
"cdna_end": null,
"cdna_length": 3411,
"mane_select": "ENST00000318584.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": true,
"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": "FKRP",
"gene_hgnc_id": 17997,
"hgvs_c": "c.1387A>G",
"hgvs_p": "p.Asn463Asp",
"transcript": "ENST00000318584.10",
"protein_id": "ENSP00000326570.4",
"transcript_support_level": 1,
"aa_start": 463,
"aa_end": null,
"aa_length": 495,
"cds_start": 1387,
"cds_end": null,
"cds_length": 1488,
"cdna_start": 1673,
"cdna_end": null,
"cdna_length": 3411,
"mane_select": "NM_024301.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"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": "FKRP",
"gene_hgnc_id": 17997,
"hgvs_c": "c.1387A>G",
"hgvs_p": "p.Asn463Asp",
"transcript": "NM_001039885.3",
"protein_id": "NP_001034974.1",
"transcript_support_level": null,
"aa_start": 463,
"aa_end": null,
"aa_length": 495,
"cds_start": 1387,
"cds_end": null,
"cds_length": 1488,
"cdna_start": 1725,
"cdna_end": null,
"cdna_length": 3463,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"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": "FKRP",
"gene_hgnc_id": 17997,
"hgvs_c": "c.1387A>G",
"hgvs_p": "p.Asn463Asp",
"transcript": "ENST00000391909.7",
"protein_id": "ENSP00000375776.2",
"transcript_support_level": 2,
"aa_start": 463,
"aa_end": null,
"aa_length": 495,
"cds_start": 1387,
"cds_end": null,
"cds_length": 1488,
"cdna_start": 1725,
"cdna_end": null,
"cdna_length": 2801,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"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": "FKRP",
"gene_hgnc_id": 17997,
"hgvs_c": "c.1387A>G",
"hgvs_p": "p.Asn463Asp",
"transcript": "XM_005259247.3",
"protein_id": "XP_005259304.1",
"transcript_support_level": null,
"aa_start": 463,
"aa_end": null,
"aa_length": 495,
"cds_start": 1387,
"cds_end": null,
"cds_length": 1488,
"cdna_start": 1797,
"cdna_end": null,
"cdna_length": 3535,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"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": "FKRP",
"gene_hgnc_id": 17997,
"hgvs_c": "c.1387A>G",
"hgvs_p": "p.Asn463Asp",
"transcript": "XM_005259248.3",
"protein_id": "XP_005259305.1",
"transcript_support_level": null,
"aa_start": 463,
"aa_end": null,
"aa_length": 495,
"cds_start": 1387,
"cds_end": null,
"cds_length": 1488,
"cdna_start": 1745,
"cdna_end": null,
"cdna_length": 3483,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"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": "FKRP",
"gene_hgnc_id": 17997,
"hgvs_c": "c.1387A>G",
"hgvs_p": "p.Asn463Asp",
"transcript": "XM_005259249.5",
"protein_id": "XP_005259306.1",
"transcript_support_level": null,
"aa_start": 463,
"aa_end": null,
"aa_length": 495,
"cds_start": 1387,
"cds_end": null,
"cds_length": 1488,
"cdna_start": 1734,
"cdna_end": null,
"cdna_length": 3472,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"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": "FKRP",
"gene_hgnc_id": 17997,
"hgvs_c": "c.1387A>G",
"hgvs_p": "p.Asn463Asp",
"transcript": "XM_011527306.3",
"protein_id": "XP_011525608.1",
"transcript_support_level": null,
"aa_start": 463,
"aa_end": null,
"aa_length": 495,
"cds_start": 1387,
"cds_end": null,
"cds_length": 1488,
"cdna_start": 1522,
"cdna_end": null,
"cdna_length": 3260,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"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": "FKRP",
"gene_hgnc_id": 17997,
"hgvs_c": "c.1387A>G",
"hgvs_p": "p.Asn463Asp",
"transcript": "XM_011527307.2",
"protein_id": "XP_011525609.1",
"transcript_support_level": null,
"aa_start": 463,
"aa_end": null,
"aa_length": 495,
"cds_start": 1387,
"cds_end": null,
"cds_length": 1488,
"cdna_start": 1583,
"cdna_end": null,
"cdna_length": 3321,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"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": "FKRP",
"gene_hgnc_id": 17997,
"hgvs_c": "c.1387A>G",
"hgvs_p": "p.Asn463Asp",
"transcript": "XM_017027297.3",
"protein_id": "XP_016882786.1",
"transcript_support_level": null,
"aa_start": 463,
"aa_end": null,
"aa_length": 495,
"cds_start": 1387,
"cds_end": null,
"cds_length": 1488,
"cdna_start": 1892,
"cdna_end": null,
"cdna_length": 3630,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"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": "FKRP",
"gene_hgnc_id": 17997,
"hgvs_c": "c.1387A>G",
"hgvs_p": "p.Asn463Asp",
"transcript": "XM_024451707.2",
"protein_id": "XP_024307475.1",
"transcript_support_level": null,
"aa_start": 463,
"aa_end": null,
"aa_length": 495,
"cds_start": 1387,
"cds_end": null,
"cds_length": 1488,
"cdna_start": 1594,
"cdna_end": null,
"cdna_length": 3332,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"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": "FKRP",
"gene_hgnc_id": 17997,
"hgvs_c": "c.1387A>G",
"hgvs_p": "p.Asn463Asp",
"transcript": "XM_047439421.1",
"protein_id": "XP_047295377.1",
"transcript_support_level": null,
"aa_start": 463,
"aa_end": null,
"aa_length": 495,
"cds_start": 1387,
"cds_end": null,
"cds_length": 1488,
"cdna_start": 2078,
"cdna_end": null,
"cdna_length": 3816,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"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": "FKRP",
"gene_hgnc_id": 17997,
"hgvs_c": "c.1387A>G",
"hgvs_p": "p.Asn463Asp",
"transcript": "XM_047439422.1",
"protein_id": "XP_047295378.1",
"transcript_support_level": null,
"aa_start": 463,
"aa_end": null,
"aa_length": 495,
"cds_start": 1387,
"cds_end": null,
"cds_length": 1488,
"cdna_start": 1964,
"cdna_end": null,
"cdna_length": 3702,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"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": "FKRP",
"gene_hgnc_id": 17997,
"hgvs_c": "c.1387A>G",
"hgvs_p": "p.Asn463Asp",
"transcript": "XM_047439423.1",
"protein_id": "XP_047295379.1",
"transcript_support_level": null,
"aa_start": 463,
"aa_end": null,
"aa_length": 495,
"cds_start": 1387,
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"cdna_start": 1786,
"cdna_end": null,
"cdna_length": 3524,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"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": "FKRP",
"gene_hgnc_id": 17997,
"hgvs_c": "c.1387A>G",
"hgvs_p": "p.Asn463Asp",
"transcript": "XM_047439424.1",
"protein_id": "XP_047295380.1",
"transcript_support_level": null,
"aa_start": 463,
"aa_end": null,
"aa_length": 495,
"cds_start": 1387,
"cds_end": null,
"cds_length": 1488,
"cdna_start": 2162,
"cdna_end": null,
"cdna_length": 3900,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"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": "FKRP",
"gene_hgnc_id": 17997,
"hgvs_c": "c.1387A>G",
"hgvs_p": "p.Asn463Asp",
"transcript": "XM_047439425.1",
"protein_id": "XP_047295381.1",
"transcript_support_level": null,
"aa_start": 463,
"aa_end": null,
"aa_length": 495,
"cds_start": 1387,
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"cdna_start": 2101,
"cdna_end": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"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": "FKRP",
"gene_hgnc_id": 17997,
"hgvs_c": "c.1387A>G",
"hgvs_p": "p.Asn463Asp",
"transcript": "XM_047439426.1",
"protein_id": "XP_047295382.1",
"transcript_support_level": null,
"aa_start": 463,
"aa_end": null,
"aa_length": 495,
"cds_start": 1387,
"cds_end": null,
"cds_length": 1488,
"cdna_start": 1883,
"cdna_end": null,
"cdna_length": 3621,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"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": "FKRP",
"gene_hgnc_id": 17997,
"hgvs_c": "c.1387A>G",
"hgvs_p": "p.Asn463Asp",
"transcript": "XM_047439427.1",
"protein_id": "XP_047295383.1",
"transcript_support_level": null,
"aa_start": 463,
"aa_end": null,
"aa_length": 495,
"cds_start": 1387,
"cds_end": null,
"cds_length": 1488,
"cdna_start": 1883,
"cdna_end": null,
"cdna_length": 3621,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"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": "FKRP",
"gene_hgnc_id": 17997,
"hgvs_c": "c.1387A>G",
"hgvs_p": "p.Asn463Asp",
"transcript": "XM_047439428.1",
"protein_id": "XP_047295384.1",
"transcript_support_level": null,
"aa_start": 463,
"aa_end": null,
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"cds_start": 1387,
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"cdna_start": 1704,
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"feature": null
},
{
"aa_ref": "N",
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"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": "FKRP",
"gene_hgnc_id": 17997,
"hgvs_c": "c.1387A>G",
"hgvs_p": "p.Asn463Asp",
"transcript": "XM_047439429.1",
"protein_id": "XP_047295385.1",
"transcript_support_level": null,
"aa_start": 463,
"aa_end": null,
"aa_length": 495,
"cds_start": 1387,
"cds_end": null,
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"cdna_start": 1537,
"cdna_end": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "FKRP",
"gene_hgnc_id": 17997,
"hgvs_c": "n.247-4996A>G",
"hgvs_p": null,
"transcript": "ENST00000597339.5",
"protein_id": null,
"transcript_support_level": 5,
"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": 420,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "FKRP",
"gene_hgnc_id": 17997,
"hgvs_c": "n.247+8172A>G",
"hgvs_p": null,
"transcript": "ENST00000600646.5",
"protein_id": null,
"transcript_support_level": 3,
"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": 584,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "FKRP",
"gene_hgnc_id": 17997,
"dbsnp": "rs121908110",
"frequency_reference_population": 0.000023106255,
"hom_count_reference_population": 0,
"allele_count_reference_population": 37,
"gnomad_exomes_af": 0.000023462,
"gnomad_genomes_af": 0.0000197182,
"gnomad_exomes_ac": 34,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7754038572311401,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.894,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.8614,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.11,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.294,
"phylop100way_prediction": "Uncertain_significance",
"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": 14,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PM1,PM5,PP2,PP3,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 14,
"benign_score": 0,
"pathogenic_score": 14,
"criteria": [
"PM1",
"PM5",
"PP2",
"PP3",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "NM_024301.5",
"gene_symbol": "FKRP",
"hgnc_id": 17997,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1387A>G",
"hgvs_p": "p.Asn463Asp"
}
],
"clinvar_disease": " 5, type A1, type A5, type B,Autosomal recessive limb-girdle muscular dystrophy,Autosomal recessive limb-girdle muscular dystrophy type 2I,Cardiovascular phenotype,Muscular dystrophy,Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies),Muscular dystrophy-dystroglycanopathy (congenital without impaired intellectual development),Muscular dystrophy-dystroglycanopathy type B5,Walker-Warburg congenital muscular dystrophy,not provided",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:10 LP:1",
"phenotype_combined": "Muscular dystrophy-dystroglycanopathy type B5|not provided|Muscular dystrophy|Walker-Warburg congenital muscular dystrophy|Autosomal recessive limb-girdle muscular dystrophy type 2I|Muscular dystrophy-dystroglycanopathy (congenital without impaired intellectual development), type B, 5|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1;Autosomal recessive limb-girdle muscular dystrophy type 2I;Muscular dystrophy-dystroglycanopathy type B5|Autosomal recessive limb-girdle muscular dystrophy|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5|Cardiovascular phenotype",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}