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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: 19-46756012-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=46756012&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 46756012,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000318584.10",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "T",
"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.562G>A",
"hgvs_p": "p.Ala188Thr",
"transcript": "NM_024301.5",
"protein_id": "NP_077277.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 495,
"cds_start": 562,
"cds_end": null,
"cds_length": 1488,
"cdna_start": 848,
"cdna_end": null,
"cdna_length": 3411,
"mane_select": "ENST00000318584.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"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.562G>A",
"hgvs_p": "p.Ala188Thr",
"transcript": "ENST00000318584.10",
"protein_id": "ENSP00000326570.4",
"transcript_support_level": 1,
"aa_start": 188,
"aa_end": null,
"aa_length": 495,
"cds_start": 562,
"cds_end": null,
"cds_length": 1488,
"cdna_start": 848,
"cdna_end": null,
"cdna_length": 3411,
"mane_select": "NM_024301.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"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.562G>A",
"hgvs_p": "p.Ala188Thr",
"transcript": "NM_001039885.3",
"protein_id": "NP_001034974.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 495,
"cds_start": 562,
"cds_end": null,
"cds_length": 1488,
"cdna_start": 900,
"cdna_end": null,
"cdna_length": 3463,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"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.562G>A",
"hgvs_p": "p.Ala188Thr",
"transcript": "ENST00000391909.7",
"protein_id": "ENSP00000375776.2",
"transcript_support_level": 2,
"aa_start": 188,
"aa_end": null,
"aa_length": 495,
"cds_start": 562,
"cds_end": null,
"cds_length": 1488,
"cdna_start": 900,
"cdna_end": null,
"cdna_length": 2801,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"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.562G>A",
"hgvs_p": "p.Ala188Thr",
"transcript": "XM_005259247.3",
"protein_id": "XP_005259304.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 495,
"cds_start": 562,
"cds_end": null,
"cds_length": 1488,
"cdna_start": 972,
"cdna_end": null,
"cdna_length": 3535,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"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.562G>A",
"hgvs_p": "p.Ala188Thr",
"transcript": "XM_005259248.3",
"protein_id": "XP_005259305.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 495,
"cds_start": 562,
"cds_end": null,
"cds_length": 1488,
"cdna_start": 920,
"cdna_end": null,
"cdna_length": 3483,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"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.562G>A",
"hgvs_p": "p.Ala188Thr",
"transcript": "XM_005259249.5",
"protein_id": "XP_005259306.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 495,
"cds_start": 562,
"cds_end": null,
"cds_length": 1488,
"cdna_start": 909,
"cdna_end": null,
"cdna_length": 3472,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"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.562G>A",
"hgvs_p": "p.Ala188Thr",
"transcript": "XM_011527306.3",
"protein_id": "XP_011525608.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 495,
"cds_start": 562,
"cds_end": null,
"cds_length": 1488,
"cdna_start": 697,
"cdna_end": null,
"cdna_length": 3260,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"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.562G>A",
"hgvs_p": "p.Ala188Thr",
"transcript": "XM_011527307.2",
"protein_id": "XP_011525609.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 495,
"cds_start": 562,
"cds_end": null,
"cds_length": 1488,
"cdna_start": 758,
"cdna_end": null,
"cdna_length": 3321,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"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.562G>A",
"hgvs_p": "p.Ala188Thr",
"transcript": "XM_017027297.3",
"protein_id": "XP_016882786.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 495,
"cds_start": 562,
"cds_end": null,
"cds_length": 1488,
"cdna_start": 1067,
"cdna_end": null,
"cdna_length": 3630,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"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.562G>A",
"hgvs_p": "p.Ala188Thr",
"transcript": "XM_024451707.2",
"protein_id": "XP_024307475.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 495,
"cds_start": 562,
"cds_end": null,
"cds_length": 1488,
"cdna_start": 769,
"cdna_end": null,
"cdna_length": 3332,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"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.562G>A",
"hgvs_p": "p.Ala188Thr",
"transcript": "XM_047439421.1",
"protein_id": "XP_047295377.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 495,
"cds_start": 562,
"cds_end": null,
"cds_length": 1488,
"cdna_start": 1253,
"cdna_end": null,
"cdna_length": 3816,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"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.562G>A",
"hgvs_p": "p.Ala188Thr",
"transcript": "XM_047439422.1",
"protein_id": "XP_047295378.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 495,
"cds_start": 562,
"cds_end": null,
"cds_length": 1488,
"cdna_start": 1139,
"cdna_end": null,
"cdna_length": 3702,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"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.562G>A",
"hgvs_p": "p.Ala188Thr",
"transcript": "XM_047439423.1",
"protein_id": "XP_047295379.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 495,
"cds_start": 562,
"cds_end": null,
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"cdna_start": 961,
"cdna_end": null,
"cdna_length": 3524,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"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.562G>A",
"hgvs_p": "p.Ala188Thr",
"transcript": "XM_047439424.1",
"protein_id": "XP_047295380.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 495,
"cds_start": 562,
"cds_end": null,
"cds_length": 1488,
"cdna_start": 1337,
"cdna_end": null,
"cdna_length": 3900,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"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.562G>A",
"hgvs_p": "p.Ala188Thr",
"transcript": "XM_047439425.1",
"protein_id": "XP_047295381.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 495,
"cds_start": 562,
"cds_end": null,
"cds_length": 1488,
"cdna_start": 1276,
"cdna_end": null,
"cdna_length": 3839,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"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.562G>A",
"hgvs_p": "p.Ala188Thr",
"transcript": "XM_047439426.1",
"protein_id": "XP_047295382.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 495,
"cds_start": 562,
"cds_end": null,
"cds_length": 1488,
"cdna_start": 1058,
"cdna_end": null,
"cdna_length": 3621,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"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.562G>A",
"hgvs_p": "p.Ala188Thr",
"transcript": "XM_047439427.1",
"protein_id": "XP_047295383.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 495,
"cds_start": 562,
"cds_end": null,
"cds_length": 1488,
"cdna_start": 1058,
"cdna_end": null,
"cdna_length": 3621,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"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.562G>A",
"hgvs_p": "p.Ala188Thr",
"transcript": "XM_047439428.1",
"protein_id": "XP_047295384.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 495,
"cds_start": 562,
"cds_end": null,
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"cdna_start": 879,
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"cdna_length": 3442,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"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.562G>A",
"hgvs_p": "p.Ala188Thr",
"transcript": "XM_047439429.1",
"protein_id": "XP_047295385.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 495,
"cds_start": 562,
"cds_end": null,
"cds_length": 1488,
"cdna_start": 712,
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"mane_select": null,
"mane_plus": null,
"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.247-5821G>A",
"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,
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"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+7347G>A",
"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
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKRP",
"gene_hgnc_id": 17997,
"hgvs_c": "c.*75G>A",
"hgvs_p": null,
"transcript": "ENST00000601299.5",
"protein_id": "ENSP00000470103.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 161,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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{
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},
{
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}
],
"gene_symbol": "FKRP",
"gene_hgnc_id": 17997,
"dbsnp": "rs746905689",
"frequency_reference_population": 0.000022316959,
"hom_count_reference_population": 0,
"allele_count_reference_population": 35,
"gnomad_exomes_af": 0.0000183589,
"gnomad_genomes_af": 0.0000591693,
"gnomad_exomes_ac": 26,
"gnomad_genomes_ac": 9,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.02697959542274475,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.255,
"revel_prediction": "Benign",
"alphamissense_score": 0.0867,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.21,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.738,
"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": -1,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM1,PP2,BP4_Strong",
"acmg_by_gene": [
{
"score": -1,
"benign_score": 4,
"pathogenic_score": 3,
"criteria": [
"PM1",
"PP2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000318584.10",
"gene_symbol": "FKRP",
"hgnc_id": 17997,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.562G>A",
"hgvs_p": "p.Ala188Thr"
}
],
"clinvar_disease": " type A5,Autosomal recessive limb-girdle muscular dystrophy type 2I,Cardiovascular phenotype,Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies),Muscular dystrophy-dystroglycanopathy type B5,Walker-Warburg congenital muscular dystrophy,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:7",
"phenotype_combined": "Autosomal recessive limb-girdle muscular dystrophy type 2I|not provided|Walker-Warburg congenital muscular dystrophy|Cardiovascular phenotype|Muscular dystrophy-dystroglycanopathy type B5;Autosomal recessive limb-girdle muscular dystrophy type 2I;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}