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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: 1-46189856-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=46189856&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 46189856,
"ref": "T",
"alt": "C",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_001243766.2",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMGNT1",
"gene_hgnc_id": 19139,
"hgvs_c": "c.1783A>G",
"hgvs_p": "p.Lys595Glu",
"transcript": "NM_017739.4",
"protein_id": "NP_060209.4",
"transcript_support_level": null,
"aa_start": 595,
"aa_end": null,
"aa_length": 660,
"cds_start": 1783,
"cds_end": null,
"cds_length": 1983,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000371984.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_017739.4"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMGNT1",
"gene_hgnc_id": 19139,
"hgvs_c": "c.1783A>G",
"hgvs_p": "p.Lys595Glu",
"transcript": "ENST00000371984.8",
"protein_id": "ENSP00000361052.3",
"transcript_support_level": 1,
"aa_start": 595,
"aa_end": null,
"aa_length": 660,
"cds_start": 1783,
"cds_end": null,
"cds_length": 1983,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_017739.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000371984.8"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMGNT1",
"gene_hgnc_id": 19139,
"hgvs_c": "c.1783A>G",
"hgvs_p": "p.Lys595Glu",
"transcript": "NM_001243766.2",
"protein_id": "NP_001230695.2",
"transcript_support_level": null,
"aa_start": 595,
"aa_end": null,
"aa_length": 748,
"cds_start": 1783,
"cds_end": null,
"cds_length": 2247,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001243766.2"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMGNT1",
"gene_hgnc_id": 19139,
"hgvs_c": "c.1783A>G",
"hgvs_p": "p.Lys595Glu",
"transcript": "ENST00000371992.1",
"protein_id": "ENSP00000361060.1",
"transcript_support_level": 2,
"aa_start": 595,
"aa_end": null,
"aa_length": 748,
"cds_start": 1783,
"cds_end": null,
"cds_length": 2247,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000371992.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMGNT1",
"gene_hgnc_id": 19139,
"hgvs_c": "c.1783A>G",
"hgvs_p": "p.Lys595Glu",
"transcript": "NM_001410783.1",
"protein_id": "NP_001397712.1",
"transcript_support_level": null,
"aa_start": 595,
"aa_end": null,
"aa_length": 718,
"cds_start": 1783,
"cds_end": null,
"cds_length": 2157,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001410783.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMGNT1",
"gene_hgnc_id": 19139,
"hgvs_c": "c.1783A>G",
"hgvs_p": "p.Lys595Glu",
"transcript": "NM_001438686.1",
"protein_id": "NP_001425615.1",
"transcript_support_level": null,
"aa_start": 595,
"aa_end": null,
"aa_length": 718,
"cds_start": 1783,
"cds_end": null,
"cds_length": 2157,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438686.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMGNT1",
"gene_hgnc_id": 19139,
"hgvs_c": "c.1783A>G",
"hgvs_p": "p.Lys595Glu",
"transcript": "NM_001438688.1",
"protein_id": "NP_001425617.1",
"transcript_support_level": null,
"aa_start": 595,
"aa_end": null,
"aa_length": 718,
"cds_start": 1783,
"cds_end": null,
"cds_length": 2157,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438688.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMGNT1",
"gene_hgnc_id": 19139,
"hgvs_c": "c.1783A>G",
"hgvs_p": "p.Lys595Glu",
"transcript": "ENST00000692369.1",
"protein_id": "ENSP00000508453.1",
"transcript_support_level": null,
"aa_start": 595,
"aa_end": null,
"aa_length": 718,
"cds_start": 1783,
"cds_end": null,
"cds_length": 2157,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000692369.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMGNT1",
"gene_hgnc_id": 19139,
"hgvs_c": "c.1873A>G",
"hgvs_p": "p.Lys625Glu",
"transcript": "ENST00000908470.1",
"protein_id": "ENSP00000578529.1",
"transcript_support_level": null,
"aa_start": 625,
"aa_end": null,
"aa_length": 690,
"cds_start": 1873,
"cds_end": null,
"cds_length": 2073,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908470.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMGNT1",
"gene_hgnc_id": 19139,
"hgvs_c": "c.1822A>G",
"hgvs_p": "p.Lys608Glu",
"transcript": "ENST00000687149.1",
"protein_id": "ENSP00000509745.1",
"transcript_support_level": null,
"aa_start": 608,
"aa_end": null,
"aa_length": 673,
"cds_start": 1822,
"cds_end": null,
"cds_length": 2022,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000687149.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMGNT1",
"gene_hgnc_id": 19139,
"hgvs_c": "c.1813A>G",
"hgvs_p": "p.Lys605Glu",
"transcript": "ENST00000948737.1",
"protein_id": "ENSP00000618796.1",
"transcript_support_level": null,
"aa_start": 605,
"aa_end": null,
"aa_length": 670,
"cds_start": 1813,
"cds_end": null,
"cds_length": 2013,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948737.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMGNT1",
"gene_hgnc_id": 19139,
"hgvs_c": "c.1801A>G",
"hgvs_p": "p.Lys601Glu",
"transcript": "ENST00000908473.1",
"protein_id": "ENSP00000578532.1",
"transcript_support_level": null,
"aa_start": 601,
"aa_end": null,
"aa_length": 666,
"cds_start": 1801,
"cds_end": null,
"cds_length": 2001,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908473.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMGNT1",
"gene_hgnc_id": 19139,
"hgvs_c": "c.1801A>G",
"hgvs_p": "p.Lys601Glu",
"transcript": "ENST00000908481.1",
"protein_id": "ENSP00000578540.1",
"transcript_support_level": null,
"aa_start": 601,
"aa_end": null,
"aa_length": 666,
"cds_start": 1801,
"cds_end": null,
"cds_length": 2001,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908481.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMGNT1",
"gene_hgnc_id": 19139,
"hgvs_c": "c.1798A>G",
"hgvs_p": "p.Lys600Glu",
"transcript": "ENST00000908472.1",
"protein_id": "ENSP00000578531.1",
"transcript_support_level": null,
"aa_start": 600,
"aa_end": null,
"aa_length": 665,
"cds_start": 1798,
"cds_end": null,
"cds_length": 1998,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908472.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMGNT1",
"gene_hgnc_id": 19139,
"hgvs_c": "c.1783A>G",
"hgvs_p": "p.Lys595Glu",
"transcript": "NM_001437653.1",
"protein_id": "NP_001424582.1",
"transcript_support_level": null,
"aa_start": 595,
"aa_end": null,
"aa_length": 660,
"cds_start": 1783,
"cds_end": null,
"cds_length": 1983,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001437653.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMGNT1",
"gene_hgnc_id": 19139,
"hgvs_c": "c.1783A>G",
"hgvs_p": "p.Lys595Glu",
"transcript": "NM_001438689.1",
"protein_id": "NP_001425618.1",
"transcript_support_level": null,
"aa_start": 595,
"aa_end": null,
"aa_length": 660,
"cds_start": 1783,
"cds_end": null,
"cds_length": 1983,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438689.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMGNT1",
"gene_hgnc_id": 19139,
"hgvs_c": "c.1783A>G",
"hgvs_p": "p.Lys595Glu",
"transcript": "ENST00000396420.8",
"protein_id": "ENSP00000379698.4",
"transcript_support_level": 2,
"aa_start": 595,
"aa_end": null,
"aa_length": 660,
"cds_start": 1783,
"cds_end": null,
"cds_length": 1983,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000396420.8"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMGNT1",
"gene_hgnc_id": 19139,
"hgvs_c": "c.1783A>G",
"hgvs_p": "p.Lys595Glu",
"transcript": "ENST00000686737.1",
"protein_id": "ENSP00000508736.1",
"transcript_support_level": null,
"aa_start": 595,
"aa_end": null,
"aa_length": 660,
"cds_start": 1783,
"cds_end": null,
"cds_length": 1983,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000686737.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMGNT1",
"gene_hgnc_id": 19139,
"hgvs_c": "c.1783A>G",
"hgvs_p": "p.Lys595Glu",
"transcript": "ENST00000687683.1",
"protein_id": "ENSP00000508522.1",
"transcript_support_level": null,
"aa_start": 595,
"aa_end": null,
"aa_length": 660,
"cds_start": 1783,
"cds_end": null,
"cds_length": 1983,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000687683.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMGNT1",
"gene_hgnc_id": 19139,
"hgvs_c": "c.1783A>G",
"hgvs_p": "p.Lys595Glu",
"transcript": "ENST00000908469.1",
"protein_id": "ENSP00000578528.1",
"transcript_support_level": null,
"aa_start": 595,
"aa_end": null,
"aa_length": 660,
"cds_start": 1783,
"cds_end": null,
"cds_length": 1983,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908469.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMGNT1",
"gene_hgnc_id": 19139,
"hgvs_c": "c.1783A>G",
"hgvs_p": "p.Lys595Glu",
"transcript": "ENST00000908471.1",
"protein_id": "ENSP00000578530.1",
"transcript_support_level": null,
"aa_start": 595,
"aa_end": null,
"aa_length": 660,
"cds_start": 1783,
"cds_end": null,
"cds_length": 1983,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908471.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
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"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000693218.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMGNT1",
"gene_hgnc_id": 19139,
"hgvs_c": "n.-33A>G",
"hgvs_p": null,
"transcript": "ENST00000691185.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000691185.1"
}
],
"gene_symbol": "POMGNT1",
"gene_hgnc_id": 19139,
"dbsnp": "rs797045896",
"frequency_reference_population": 0.0000037182,
"hom_count_reference_population": 0,
"allele_count_reference_population": 6,
"gnomad_exomes_af": 0.00000205267,
"gnomad_genomes_af": 0.0000197145,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8673802614212036,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.6019999980926514,
"splice_prediction_selected": "Benign",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.749,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.8716,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.32,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.674,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.03,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.970307838641633,
"dbscsnv_ada_prediction": "Pathogenic",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3_Moderate",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001243766.2",
"gene_symbol": "POMGNT1",
"hgnc_id": 19139,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.1783A>G",
"hgvs_p": "p.Lys595Glu"
},
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "XM_011540460.4",
"gene_symbol": "TSPAN1",
"hgnc_id": 20657,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.678+4548T>C",
"hgvs_p": null
}
],
"clinvar_disease": " type B3,Autosomal recessive limb-girdle muscular dystrophy type 2O,Muscle eye brain disease,Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability),not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "not specified|Autosomal recessive limb-girdle muscular dystrophy type 2O;Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3|Muscle eye brain disease",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}