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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: 1-236726026-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=236726026&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 236726026,
"ref": "C",
"alt": "G",
"effect": "splice_region_variant,intron_variant",
"transcript": "NM_001103.4",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ACTN2",
"gene_hgnc_id": 164,
"hgvs_c": "c.536+6C>G",
"hgvs_p": null,
"transcript": "NM_001103.4",
"protein_id": "NP_001094.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 894,
"cds_start": null,
"cds_end": null,
"cds_length": 2685,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000366578.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001103.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ACTN2",
"gene_hgnc_id": 164,
"hgvs_c": "c.536+6C>G",
"hgvs_p": null,
"transcript": "ENST00000366578.6",
"protein_id": "ENSP00000355537.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 894,
"cds_start": null,
"cds_end": null,
"cds_length": 2685,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001103.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000366578.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ACTN2",
"gene_hgnc_id": 164,
"hgvs_c": "c.536+6C>G",
"hgvs_p": null,
"transcript": "ENST00000542672.7",
"protein_id": "ENSP00000443495.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 894,
"cds_start": null,
"cds_end": null,
"cds_length": 2685,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000542672.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ACTN2",
"gene_hgnc_id": 164,
"hgvs_c": "c.536+6C>G",
"hgvs_p": null,
"transcript": "ENST00000879537.1",
"protein_id": "ENSP00000549596.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 931,
"cds_start": null,
"cds_end": null,
"cds_length": 2796,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879537.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ACTN2",
"gene_hgnc_id": 164,
"hgvs_c": "c.536+6C>G",
"hgvs_p": null,
"transcript": "ENST00000967370.1",
"protein_id": "ENSP00000637429.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 931,
"cds_start": null,
"cds_end": null,
"cds_length": 2796,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967370.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ACTN2",
"gene_hgnc_id": 164,
"hgvs_c": "c.536+6C>G",
"hgvs_p": null,
"transcript": "ENST00000967362.1",
"protein_id": "ENSP00000637421.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 928,
"cds_start": null,
"cds_end": null,
"cds_length": 2787,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967362.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ACTN2",
"gene_hgnc_id": 164,
"hgvs_c": "c.626+6C>G",
"hgvs_p": null,
"transcript": "ENST00000879533.1",
"protein_id": "ENSP00000549592.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 924,
"cds_start": null,
"cds_end": null,
"cds_length": 2775,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879533.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ACTN2",
"gene_hgnc_id": 164,
"hgvs_c": "c.536+6C>G",
"hgvs_p": null,
"transcript": "ENST00000967365.1",
"protein_id": "ENSP00000637424.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 909,
"cds_start": null,
"cds_end": null,
"cds_length": 2730,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967365.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ACTN2",
"gene_hgnc_id": 164,
"hgvs_c": "c.536+6C>G",
"hgvs_p": null,
"transcript": "ENST00000879532.1",
"protein_id": "ENSP00000549591.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 907,
"cds_start": null,
"cds_end": null,
"cds_length": 2724,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879532.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ACTN2",
"gene_hgnc_id": 164,
"hgvs_c": "c.536+6C>G",
"hgvs_p": null,
"transcript": "ENST00000967363.1",
"protein_id": "ENSP00000637422.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 905,
"cds_start": null,
"cds_end": null,
"cds_length": 2718,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967363.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ACTN2",
"gene_hgnc_id": 164,
"hgvs_c": "c.548+6C>G",
"hgvs_p": null,
"transcript": "ENST00000967352.1",
"protein_id": "ENSP00000637411.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 898,
"cds_start": null,
"cds_end": null,
"cds_length": 2697,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967352.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ACTN2",
"gene_hgnc_id": 164,
"hgvs_c": "c.536+6C>G",
"hgvs_p": null,
"transcript": "ENST00000879534.1",
"protein_id": "ENSP00000549593.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 895,
"cds_start": null,
"cds_end": null,
"cds_length": 2688,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879534.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ACTN2",
"gene_hgnc_id": 164,
"hgvs_c": "c.536+6C>G",
"hgvs_p": null,
"transcript": "NM_001278343.2",
"protein_id": "NP_001265272.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 894,
"cds_start": null,
"cds_end": null,
"cds_length": 2685,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001278343.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ACTN2",
"gene_hgnc_id": 164,
"hgvs_c": "c.536+6C>G",
"hgvs_p": null,
"transcript": "ENST00000879538.1",
"protein_id": "ENSP00000549597.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 893,
"cds_start": null,
"cds_end": null,
"cds_length": 2682,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879538.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ACTN2",
"gene_hgnc_id": 164,
"hgvs_c": "c.536+6C>G",
"hgvs_p": null,
"transcript": "ENST00000967348.1",
"protein_id": "ENSP00000637407.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 892,
"cds_start": null,
"cds_end": null,
"cds_length": 2679,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967348.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ACTN2",
"gene_hgnc_id": 164,
"hgvs_c": "c.536+6C>G",
"hgvs_p": null,
"transcript": "ENST00000967355.1",
"protein_id": "ENSP00000637414.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 892,
"cds_start": null,
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"cds_length": 2679,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967355.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ACTN2",
"gene_hgnc_id": 164,
"hgvs_c": "c.521+6C>G",
"hgvs_p": null,
"transcript": "ENST00000967354.1",
"protein_id": "ENSP00000637413.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 889,
"cds_start": null,
"cds_end": null,
"cds_length": 2670,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967354.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ACTN2",
"gene_hgnc_id": 164,
"hgvs_c": "c.518+6C>G",
"hgvs_p": null,
"transcript": "ENST00000967356.1",
"protein_id": "ENSP00000637415.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 888,
"cds_start": null,
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"cds_length": 2667,
"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967356.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ACTN2",
"gene_hgnc_id": 164,
"hgvs_c": "c.536+6C>G",
"hgvs_p": null,
"transcript": "ENST00000879535.1",
"protein_id": "ENSP00000549594.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 887,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879535.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ACTN2",
"gene_hgnc_id": 164,
"hgvs_c": "c.536+6C>G",
"hgvs_p": null,
"transcript": "ENST00000967357.1",
"protein_id": "ENSP00000637416.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": null,
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"cds_length": 2655,
"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967357.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ACTN2",
"gene_hgnc_id": 164,
"hgvs_c": "c.536+6C>G",
"hgvs_p": null,
"transcript": "ENST00000879536.1",
"protein_id": "ENSP00000549595.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 881,
"cds_start": null,
"cds_end": null,
"cds_length": 2646,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879536.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ACTN2",
"gene_hgnc_id": 164,
"hgvs_c": "c.536+6C>G",
"hgvs_p": null,
"transcript": "ENST00000967360.1",
"protein_id": "ENSP00000637419.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 872,
"cds_start": null,
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{
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"canonical": false,
"protein_coding": false,
"strand": true,
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"intron_variant"
],
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"exon_count": 20,
"intron_rank": 5,
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"gene_symbol": "ACTN2",
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"hgvs_c": "n.571+6C>G",
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"transcript": "ENST00000684050.1",
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"aa_start": null,
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"cds_start": null,
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"cds_length": null,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
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"biotype": "retained_intron",
"feature": "ENST00000684050.1"
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{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
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"exon_count": 21,
"intron_rank": 5,
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"gene_symbol": "ACTN2",
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"hgvs_c": "n.604+6C>G",
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"transcript": "ENST00000684286.1",
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"cdna_start": null,
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"biotype": "retained_intron",
"feature": "ENST00000684286.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
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"exon_count": 19,
"intron_rank": 5,
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"gene_symbol": "ACTN2",
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"hgvs_c": "n.571+6C>G",
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"transcript": "ENST00000684502.1",
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"cdna_start": null,
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"biotype": "retained_intron",
"feature": "ENST00000684502.1"
},
{
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"protein_coding": false,
"strand": true,
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"splice_region_variant",
"intron_variant"
],
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"exon_count": 23,
"intron_rank": 5,
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"gene_symbol": "ACTN2",
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"hgvs_c": "n.711+6C>G",
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"transcript": "NR_184402.1",
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"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": "pseudogene",
"feature": "NR_184402.1"
}
],
"gene_symbol": "ACTN2",
"gene_hgnc_id": 164,
"dbsnp": "rs771398006",
"frequency_reference_population": 0.00001674699,
"hom_count_reference_population": 0,
"allele_count_reference_population": 27,
"gnomad_exomes_af": 0.0000157528,
"gnomad_genomes_af": 0.0000262857,
"gnomad_exomes_ac": 23,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.7400000095367432,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.06599999964237213,
"splice_prediction_selected": "Benign",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.74,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.086,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.11,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.0016980358223335,
"dbscsnv_ada_prediction": "Benign",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -8,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BS2",
"acmg_by_gene": [
{
"score": -8,
"benign_score": 8,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001103.4",
"gene_symbol": "ACTN2",
"hgnc_id": 164,
"effects": [
"splice_region_variant",
"intron_variant"
],
"inheritance_mode": "AD,Unknown",
"hgvs_c": "c.536+6C>G",
"hgvs_p": null
}
],
"clinvar_disease": " 6, adult-onset, autosomal dominant, congenital, distal, with structured cores and z-line abnormalities,Cardiomyopathy,Dilated cardiomyopathy 1AA,Myopathy,Primary familial hypertrophic cardiomyopathy,not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:5",
"phenotype_combined": "not specified|Cardiomyopathy|Primary familial hypertrophic cardiomyopathy;Dilated cardiomyopathy 1AA|Dilated cardiomyopathy 1AA;Myopathy, congenital, with structured cores and z-line abnormalities;Myopathy, distal, 6, adult-onset, autosomal dominant",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}