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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: 10-68166369-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=68166369&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 68166369,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_032578.4",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYPN",
"gene_hgnc_id": 23246,
"hgvs_c": "c.1676A>C",
"hgvs_p": "p.Gln559Pro",
"transcript": "NM_032578.4",
"protein_id": "NP_115967.2",
"transcript_support_level": null,
"aa_start": 559,
"aa_end": null,
"aa_length": 1320,
"cds_start": 1676,
"cds_end": null,
"cds_length": 3963,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000358913.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_032578.4"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYPN",
"gene_hgnc_id": 23246,
"hgvs_c": "c.1676A>C",
"hgvs_p": "p.Gln559Pro",
"transcript": "ENST00000358913.10",
"protein_id": "ENSP00000351790.5",
"transcript_support_level": 1,
"aa_start": 559,
"aa_end": null,
"aa_length": 1320,
"cds_start": 1676,
"cds_end": null,
"cds_length": 3963,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_032578.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000358913.10"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYPN",
"gene_hgnc_id": 23246,
"hgvs_c": "c.1730A>C",
"hgvs_p": "p.Gln577Pro",
"transcript": "ENST00000540630.6",
"protein_id": "ENSP00000441668.3",
"transcript_support_level": 1,
"aa_start": 577,
"aa_end": null,
"aa_length": 1338,
"cds_start": 1730,
"cds_end": null,
"cds_length": 4017,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000540630.6"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYPN",
"gene_hgnc_id": 23246,
"hgvs_c": "c.1676A>C",
"hgvs_p": "p.Gln559Pro",
"transcript": "ENST00000613327.5",
"protein_id": "ENSP00000480757.2",
"transcript_support_level": 1,
"aa_start": 559,
"aa_end": null,
"aa_length": 1320,
"cds_start": 1676,
"cds_end": null,
"cds_length": 3963,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000613327.5"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYPN",
"gene_hgnc_id": 23246,
"hgvs_c": "c.851A>C",
"hgvs_p": "p.Gln284Pro",
"transcript": "ENST00000354393.7",
"protein_id": "ENSP00000346369.2",
"transcript_support_level": 1,
"aa_start": 284,
"aa_end": null,
"aa_length": 1045,
"cds_start": 851,
"cds_end": null,
"cds_length": 3138,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000354393.7"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYPN",
"gene_hgnc_id": 23246,
"hgvs_c": "c.1676A>C",
"hgvs_p": "p.Gln559Pro",
"transcript": "NM_001256267.2",
"protein_id": "NP_001243196.1",
"transcript_support_level": null,
"aa_start": 559,
"aa_end": null,
"aa_length": 1320,
"cds_start": 1676,
"cds_end": null,
"cds_length": 3963,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001256267.2"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYPN",
"gene_hgnc_id": 23246,
"hgvs_c": "c.794A>C",
"hgvs_p": "p.Gln265Pro",
"transcript": "NM_001256268.2",
"protein_id": "NP_001243197.1",
"transcript_support_level": null,
"aa_start": 265,
"aa_end": null,
"aa_length": 1026,
"cds_start": 794,
"cds_end": null,
"cds_length": 3081,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001256268.2"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYPN",
"gene_hgnc_id": 23246,
"hgvs_c": "c.1676A>C",
"hgvs_p": "p.Gln559Pro",
"transcript": "ENST00000373675.4",
"protein_id": "ENSP00000362779.4",
"transcript_support_level": 2,
"aa_start": 559,
"aa_end": null,
"aa_length": 658,
"cds_start": 1676,
"cds_end": null,
"cds_length": 1977,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000373675.4"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYPN",
"gene_hgnc_id": 23246,
"hgvs_c": "c.554A>C",
"hgvs_p": "p.Gln185Pro",
"transcript": "ENST00000687572.1",
"protein_id": "ENSP00000510427.1",
"transcript_support_level": null,
"aa_start": 185,
"aa_end": null,
"aa_length": 282,
"cds_start": 554,
"cds_end": null,
"cds_length": 851,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000687572.1"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYPN",
"gene_hgnc_id": 23246,
"hgvs_c": "c.1754A>C",
"hgvs_p": "p.Gln585Pro",
"transcript": "XM_017016833.2",
"protein_id": "XP_016872322.1",
"transcript_support_level": null,
"aa_start": 585,
"aa_end": null,
"aa_length": 1346,
"cds_start": 1754,
"cds_end": null,
"cds_length": 4041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017016833.2"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYPN",
"gene_hgnc_id": 23246,
"hgvs_c": "c.1754A>C",
"hgvs_p": "p.Gln585Pro",
"transcript": "XM_047425876.1",
"protein_id": "XP_047281832.1",
"transcript_support_level": null,
"aa_start": 585,
"aa_end": null,
"aa_length": 1346,
"cds_start": 1754,
"cds_end": null,
"cds_length": 4041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425876.1"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYPN",
"gene_hgnc_id": 23246,
"hgvs_c": "c.1676A>C",
"hgvs_p": "p.Gln559Pro",
"transcript": "XM_017016834.3",
"protein_id": "XP_016872323.1",
"transcript_support_level": null,
"aa_start": 559,
"aa_end": null,
"aa_length": 1320,
"cds_start": 1676,
"cds_end": null,
"cds_length": 3963,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017016834.3"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYPN",
"gene_hgnc_id": 23246,
"hgvs_c": "c.554A>C",
"hgvs_p": "p.Gln185Pro",
"transcript": "XM_047425877.1",
"protein_id": "XP_047281833.1",
"transcript_support_level": null,
"aa_start": 185,
"aa_end": null,
"aa_length": 946,
"cds_start": 554,
"cds_end": null,
"cds_length": 2841,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425877.1"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYPN",
"gene_hgnc_id": 23246,
"hgvs_c": "c.554A>C",
"hgvs_p": "p.Gln185Pro",
"transcript": "XM_047425878.1",
"protein_id": "XP_047281834.1",
"transcript_support_level": null,
"aa_start": 185,
"aa_end": null,
"aa_length": 946,
"cds_start": 554,
"cds_end": null,
"cds_length": 2841,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425878.1"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYPN",
"gene_hgnc_id": 23246,
"hgvs_c": "c.554A>C",
"hgvs_p": "p.Gln185Pro",
"transcript": "XM_047425879.1",
"protein_id": "XP_047281835.1",
"transcript_support_level": null,
"aa_start": 185,
"aa_end": null,
"aa_length": 946,
"cds_start": 554,
"cds_end": null,
"cds_length": 2841,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425879.1"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYPN",
"gene_hgnc_id": 23246,
"hgvs_c": "c.359A>C",
"hgvs_p": "p.Gln120Pro",
"transcript": "XM_047425880.1",
"protein_id": "XP_047281836.1",
"transcript_support_level": null,
"aa_start": 120,
"aa_end": null,
"aa_length": 881,
"cds_start": 359,
"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": "XM_047425880.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYPN",
"gene_hgnc_id": 23246,
"hgvs_c": "n.*1925A>C",
"hgvs_p": null,
"transcript": "ENST00000687705.1",
"protein_id": "ENSP00000509639.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000687705.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYPN",
"gene_hgnc_id": 23246,
"hgvs_c": "n.1652A>C",
"hgvs_p": null,
"transcript": "ENST00000688812.1",
"protein_id": "ENSP00000510658.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000688812.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYPN",
"gene_hgnc_id": 23246,
"hgvs_c": "n.728A>C",
"hgvs_p": null,
"transcript": "ENST00000689002.1",
"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": "ENST00000689002.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYPN",
"gene_hgnc_id": 23246,
"hgvs_c": "n.*947A>C",
"hgvs_p": null,
"transcript": "ENST00000690544.1",
"protein_id": "ENSP00000508989.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000690544.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYPN",
"gene_hgnc_id": 23246,
"hgvs_c": "n.1213A>C",
"hgvs_p": null,
"transcript": "NR_045662.4",
"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": "pseudogene",
"feature": "NR_045662.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYPN",
"gene_hgnc_id": 23246,
"hgvs_c": "n.1889A>C",
"hgvs_p": null,
"transcript": "NR_045663.4",
"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": "pseudogene",
"feature": "NR_045663.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYPN",
"gene_hgnc_id": 23246,
"hgvs_c": "n.*1925A>C",
"hgvs_p": null,
"transcript": "ENST00000687705.1",
"protein_id": "ENSP00000509639.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000687705.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYPN",
"gene_hgnc_id": 23246,
"hgvs_c": "n.*947A>C",
"hgvs_p": null,
"transcript": "ENST00000690544.1",
"protein_id": "ENSP00000508989.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000690544.1"
}
],
"gene_symbol": "MYPN",
"gene_hgnc_id": 23246,
"dbsnp": "rs1187897430",
"frequency_reference_population": 0.000023258519,
"hom_count_reference_population": 0,
"allele_count_reference_population": 34,
"gnomad_exomes_af": 0.0000232585,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 34,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.16158145666122437,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.179,
"revel_prediction": "Benign",
"alphamissense_score": 0.0913,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.19,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.077,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_032578.4",
"gene_symbol": "MYPN",
"hgnc_id": 23246,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.1676A>C",
"hgvs_p": "p.Gln559Pro"
}
],
"clinvar_disease": "Cardiovascular phenotype,Dilated cardiomyopathy 1KK,MYPN-related myopathy",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:3",
"phenotype_combined": "Dilated cardiomyopathy 1KK|MYPN-related myopathy;Dilated cardiomyopathy 1KK|Cardiovascular phenotype",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}