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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: 22-38736363-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=38736363&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 38736363,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_001394427.1",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN2",
"gene_hgnc_id": 14210,
"hgvs_c": "c.2058G>A",
"hgvs_p": "p.Thr686Thr",
"transcript": "NM_015374.3",
"protein_id": "NP_056189.1",
"transcript_support_level": null,
"aa_start": 686,
"aa_end": null,
"aa_length": 717,
"cds_start": 2058,
"cds_end": null,
"cds_length": 2154,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000689035.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015374.3"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN2",
"gene_hgnc_id": 14210,
"hgvs_c": "c.2058G>A",
"hgvs_p": "p.Thr686Thr",
"transcript": "ENST00000689035.1",
"protein_id": "ENSP00000508608.1",
"transcript_support_level": null,
"aa_start": 686,
"aa_end": null,
"aa_length": 717,
"cds_start": 2058,
"cds_end": null,
"cds_length": 2154,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_015374.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000689035.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN2",
"gene_hgnc_id": 14210,
"hgvs_c": "c.2121G>A",
"hgvs_p": "p.Thr707Thr",
"transcript": "ENST00000405018.5",
"protein_id": "ENSP00000385616.1",
"transcript_support_level": 1,
"aa_start": 707,
"aa_end": null,
"aa_length": 738,
"cds_start": 2121,
"cds_end": null,
"cds_length": 2217,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000405018.5"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN2",
"gene_hgnc_id": 14210,
"hgvs_c": "c.2058G>A",
"hgvs_p": "p.Thr686Thr",
"transcript": "ENST00000405510.5",
"protein_id": "ENSP00000385740.1",
"transcript_support_level": 1,
"aa_start": 686,
"aa_end": null,
"aa_length": 717,
"cds_start": 2058,
"cds_end": null,
"cds_length": 2154,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000405510.5"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN2",
"gene_hgnc_id": 14210,
"hgvs_c": "c.2154G>A",
"hgvs_p": "p.Thr718Thr",
"transcript": "ENST00000956730.1",
"protein_id": "ENSP00000626789.1",
"transcript_support_level": null,
"aa_start": 718,
"aa_end": null,
"aa_length": 749,
"cds_start": 2154,
"cds_end": null,
"cds_length": 2250,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956730.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN2",
"gene_hgnc_id": 14210,
"hgvs_c": "c.2154G>A",
"hgvs_p": "p.Thr718Thr",
"transcript": "ENST00000956735.1",
"protein_id": "ENSP00000626794.1",
"transcript_support_level": null,
"aa_start": 718,
"aa_end": null,
"aa_length": 749,
"cds_start": 2154,
"cds_end": null,
"cds_length": 2250,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956735.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN2",
"gene_hgnc_id": 14210,
"hgvs_c": "c.2154G>A",
"hgvs_p": "p.Thr718Thr",
"transcript": "ENST00000956751.1",
"protein_id": "ENSP00000626810.1",
"transcript_support_level": null,
"aa_start": 718,
"aa_end": null,
"aa_length": 749,
"cds_start": 2154,
"cds_end": null,
"cds_length": 2250,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956751.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN2",
"gene_hgnc_id": 14210,
"hgvs_c": "c.2151G>A",
"hgvs_p": "p.Thr717Thr",
"transcript": "NM_001394427.1",
"protein_id": "NP_001381356.1",
"transcript_support_level": null,
"aa_start": 717,
"aa_end": null,
"aa_length": 748,
"cds_start": 2151,
"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_001394427.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN2",
"gene_hgnc_id": 14210,
"hgvs_c": "c.2151G>A",
"hgvs_p": "p.Thr717Thr",
"transcript": "ENST00000956736.1",
"protein_id": "ENSP00000626795.1",
"transcript_support_level": null,
"aa_start": 717,
"aa_end": null,
"aa_length": 748,
"cds_start": 2151,
"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": "ENST00000956736.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN2",
"gene_hgnc_id": 14210,
"hgvs_c": "c.2124G>A",
"hgvs_p": "p.Thr708Thr",
"transcript": "ENST00000956744.1",
"protein_id": "ENSP00000626803.1",
"transcript_support_level": null,
"aa_start": 708,
"aa_end": null,
"aa_length": 739,
"cds_start": 2124,
"cds_end": null,
"cds_length": 2220,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956744.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN2",
"gene_hgnc_id": 14210,
"hgvs_c": "c.2121G>A",
"hgvs_p": "p.Thr707Thr",
"transcript": "NM_001199579.2",
"protein_id": "NP_001186508.1",
"transcript_support_level": null,
"aa_start": 707,
"aa_end": null,
"aa_length": 738,
"cds_start": 2121,
"cds_end": null,
"cds_length": 2217,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001199579.2"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN2",
"gene_hgnc_id": 14210,
"hgvs_c": "c.2121G>A",
"hgvs_p": "p.Thr707Thr",
"transcript": "NM_001394428.1",
"protein_id": "NP_001381357.1",
"transcript_support_level": null,
"aa_start": 707,
"aa_end": null,
"aa_length": 738,
"cds_start": 2121,
"cds_end": null,
"cds_length": 2217,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394428.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN2",
"gene_hgnc_id": 14210,
"hgvs_c": "c.2121G>A",
"hgvs_p": "p.Thr707Thr",
"transcript": "ENST00000956739.1",
"protein_id": "ENSP00000626798.1",
"transcript_support_level": null,
"aa_start": 707,
"aa_end": null,
"aa_length": 738,
"cds_start": 2121,
"cds_end": null,
"cds_length": 2217,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956739.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN2",
"gene_hgnc_id": 14210,
"hgvs_c": "c.2118G>A",
"hgvs_p": "p.Thr706Thr",
"transcript": "ENST00000870844.1",
"protein_id": "ENSP00000540903.1",
"transcript_support_level": null,
"aa_start": 706,
"aa_end": null,
"aa_length": 737,
"cds_start": 2118,
"cds_end": null,
"cds_length": 2214,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870844.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN2",
"gene_hgnc_id": 14210,
"hgvs_c": "c.2118G>A",
"hgvs_p": "p.Thr706Thr",
"transcript": "ENST00000870850.1",
"protein_id": "ENSP00000540909.1",
"transcript_support_level": null,
"aa_start": 706,
"aa_end": null,
"aa_length": 737,
"cds_start": 2118,
"cds_end": null,
"cds_length": 2214,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870850.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN2",
"gene_hgnc_id": 14210,
"hgvs_c": "c.2118G>A",
"hgvs_p": "p.Thr706Thr",
"transcript": "ENST00000956749.1",
"protein_id": "ENSP00000626808.1",
"transcript_support_level": null,
"aa_start": 706,
"aa_end": null,
"aa_length": 737,
"cds_start": 2118,
"cds_end": null,
"cds_length": 2214,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956749.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN2",
"gene_hgnc_id": 14210,
"hgvs_c": "c.2103G>A",
"hgvs_p": "p.Thr701Thr",
"transcript": "NM_001394429.1",
"protein_id": "NP_001381358.1",
"transcript_support_level": null,
"aa_start": 701,
"aa_end": null,
"aa_length": 732,
"cds_start": 2103,
"cds_end": null,
"cds_length": 2199,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394429.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN2",
"gene_hgnc_id": 14210,
"hgvs_c": "c.2103G>A",
"hgvs_p": "p.Thr701Thr",
"transcript": "NM_001394430.1",
"protein_id": "NP_001381359.1",
"transcript_support_level": null,
"aa_start": 701,
"aa_end": null,
"aa_length": 732,
"cds_start": 2103,
"cds_end": null,
"cds_length": 2199,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394430.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN2",
"gene_hgnc_id": 14210,
"hgvs_c": "c.2103G>A",
"hgvs_p": "p.Thr701Thr",
"transcript": "ENST00000956732.1",
"protein_id": "ENSP00000626791.1",
"transcript_support_level": null,
"aa_start": 701,
"aa_end": null,
"aa_length": 732,
"cds_start": 2103,
"cds_end": null,
"cds_length": 2199,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956732.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN2",
"gene_hgnc_id": 14210,
"hgvs_c": "c.2103G>A",
"hgvs_p": "p.Thr701Thr",
"transcript": "ENST00000956737.1",
"protein_id": "ENSP00000626796.1",
"transcript_support_level": null,
"aa_start": 701,
"aa_end": null,
"aa_length": 732,
"cds_start": 2103,
"cds_end": null,
"cds_length": 2199,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956737.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN2",
"gene_hgnc_id": 14210,
"hgvs_c": "c.2082G>A",
"hgvs_p": "p.Thr694Thr",
"transcript": "ENST00000870852.1",
"protein_id": "ENSP00000540911.1",
"transcript_support_level": null,
"aa_start": 694,
"aa_end": null,
"aa_length": 725,
"cds_start": 2082,
"cds_end": null,
"cds_length": 2178,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870852.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN2",
"gene_hgnc_id": 14210,
"hgvs_c": "c.2061G>A",
"hgvs_p": "p.Thr687Thr",
"transcript": "ENST00000870833.1",
"protein_id": "ENSP00000540892.1",
"transcript_support_level": null,
"aa_start": 687,
"aa_end": null,
"aa_length": 718,
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"bayesdelnoaf_score": -0.7,
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"phylop100way_prediction": "Benign",
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{
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"BP4_Strong",
"BP6_Moderate",
"BP7"
],
"verdict": "Likely_benign",
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],
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{
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"BP4_Strong",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000489527.1",
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"effects": [
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],
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},
{
"score": -4,
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"criteria": [
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"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000418803.1",
"gene_symbol": "ENSG00000230149",
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"effects": [
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],
"inheritance_mode": "",
"hgvs_c": "n.85+1549C>T",
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},
{
"score": -4,
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"criteria": [
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"BP4_Strong",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000420118.1",
"gene_symbol": "ENSG00000244491",
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"effects": [
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],
"inheritance_mode": "",
"hgvs_c": "n.317+1322C>T",
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},
{
"score": -4,
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"BP4_Strong",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000609428.1",
"gene_symbol": "ENSG00000273096",
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"effects": [
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],
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],
"clinvar_disease": "Emery-Dreifuss muscular dystrophy",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "Emery-Dreifuss muscular dystrophy",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}