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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: 2-151498274-C-CTTGA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=151498274&ref=C&alt=CTTGA&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 151498274,
"ref": "C",
"alt": "CTTGA",
"effect": "frameshift_variant",
"transcript": "ENST00000397345.8",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "QS?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 170,
"exon_rank_end": null,
"exon_count": 182,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.24189_24192dupTCAA",
"hgvs_p": "p.Glu8065fs",
"transcript": "NM_001164507.2",
"protein_id": "NP_001157979.2",
"transcript_support_level": null,
"aa_start": 8064,
"aa_end": null,
"aa_length": 8525,
"cds_start": 24192,
"cds_end": null,
"cds_length": 25578,
"cdna_start": 24384,
"cdna_end": null,
"cdna_length": 26191,
"mane_select": null,
"mane_plus": "ENST00000427231.7",
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "QS?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 170,
"exon_rank_end": null,
"exon_count": 182,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.24189_24192dupTCAA",
"hgvs_p": "p.Glu8065fs",
"transcript": "NM_001164508.2",
"protein_id": "NP_001157980.2",
"transcript_support_level": null,
"aa_start": 8064,
"aa_end": null,
"aa_length": 8525,
"cds_start": 24192,
"cds_end": null,
"cds_length": 25578,
"cdna_start": 24384,
"cdna_end": null,
"cdna_length": 26191,
"mane_select": "ENST00000397345.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "QS?",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 170,
"exon_rank_end": null,
"exon_count": 182,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.24189_24192dupTCAA",
"hgvs_p": "p.Glu8065fs",
"transcript": "ENST00000397345.8",
"protein_id": "ENSP00000380505.3",
"transcript_support_level": 5,
"aa_start": 8064,
"aa_end": null,
"aa_length": 8525,
"cds_start": 24192,
"cds_end": null,
"cds_length": 25578,
"cdna_start": 24384,
"cdna_end": null,
"cdna_length": 26191,
"mane_select": "NM_001164508.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "QS?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 170,
"exon_rank_end": null,
"exon_count": 182,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.24189_24192dupTCAA",
"hgvs_p": "p.Glu8065fs",
"transcript": "ENST00000427231.7",
"protein_id": "ENSP00000416578.2",
"transcript_support_level": 5,
"aa_start": 8064,
"aa_end": null,
"aa_length": 8525,
"cds_start": 24192,
"cds_end": null,
"cds_length": 25578,
"cdna_start": 24384,
"cdna_end": null,
"cdna_length": 26191,
"mane_select": null,
"mane_plus": "NM_001164507.2",
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "QS?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 171,
"exon_rank_end": null,
"exon_count": 183,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.24294_24297dupTCAA",
"hgvs_p": "p.Glu8100fs",
"transcript": "NM_001271208.2",
"protein_id": "NP_001258137.2",
"transcript_support_level": null,
"aa_start": 8099,
"aa_end": null,
"aa_length": 8560,
"cds_start": 24297,
"cds_end": null,
"cds_length": 25683,
"cdna_start": 24489,
"cdna_end": null,
"cdna_length": 26296,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "QS?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.588_591dupTCAA",
"hgvs_p": "p.Glu198fs",
"transcript": "ENST00000397337.6",
"protein_id": "ENSP00000380498.2",
"transcript_support_level": 5,
"aa_start": 197,
"aa_end": null,
"aa_length": 658,
"cds_start": 591,
"cds_end": null,
"cds_length": 1977,
"cdna_start": 593,
"cdna_end": null,
"cdna_length": 2400,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "QS?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.624_627dupTCAA",
"hgvs_p": "p.Glu210fs",
"transcript": "ENST00000421461.6",
"protein_id": "ENSP00000408570.2",
"transcript_support_level": 5,
"aa_start": 209,
"aa_end": null,
"aa_length": 399,
"cds_start": 627,
"cds_end": null,
"cds_length": 1200,
"cdna_start": 628,
"cdna_end": null,
"cdna_length": 1201,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "QS?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 169,
"exon_rank_end": null,
"exon_count": 181,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.24096_24099dupTCAA",
"hgvs_p": "p.Glu8034fs",
"transcript": "XM_005246590.3",
"protein_id": "XP_005246647.1",
"transcript_support_level": null,
"aa_start": 8033,
"aa_end": null,
"aa_length": 8494,
"cds_start": 24099,
"cds_end": null,
"cds_length": 25485,
"cdna_start": 24291,
"cdna_end": null,
"cdna_length": 26098,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "QS?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 169,
"exon_rank_end": null,
"exon_count": 181,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.24096_24099dupTCAA",
"hgvs_p": "p.Glu8034fs",
"transcript": "XM_005246591.3",
"protein_id": "XP_005246648.1",
"transcript_support_level": null,
"aa_start": 8033,
"aa_end": null,
"aa_length": 8494,
"cds_start": 24099,
"cds_end": null,
"cds_length": 25485,
"cdna_start": 24291,
"cdna_end": null,
"cdna_length": 26098,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "QS?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 170,
"exon_rank_end": null,
"exon_count": 181,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.24189_24192dupTCAA",
"hgvs_p": "p.Glu8065fs",
"transcript": "XM_005246592.3",
"protein_id": "XP_005246649.1",
"transcript_support_level": null,
"aa_start": 8064,
"aa_end": null,
"aa_length": 8494,
"cds_start": 24192,
"cds_end": null,
"cds_length": 25485,
"cdna_start": 24384,
"cdna_end": null,
"cdna_length": 26098,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "QS?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 170,
"exon_rank_end": null,
"exon_count": 181,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.24189_24192dupTCAA",
"hgvs_p": "p.Glu8065fs",
"transcript": "XM_005246593.3",
"protein_id": "XP_005246650.1",
"transcript_support_level": null,
"aa_start": 8064,
"aa_end": null,
"aa_length": 8494,
"cds_start": 24192,
"cds_end": null,
"cds_length": 25485,
"cdna_start": 24384,
"cdna_end": null,
"cdna_length": 26098,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "QS?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 169,
"exon_rank_end": null,
"exon_count": 181,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.24096_24099dupTCAA",
"hgvs_p": "p.Glu8034fs",
"transcript": "XM_005246594.3",
"protein_id": "XP_005246651.1",
"transcript_support_level": null,
"aa_start": 8033,
"aa_end": null,
"aa_length": 8494,
"cds_start": 24099,
"cds_end": null,
"cds_length": 25485,
"cdna_start": 24291,
"cdna_end": null,
"cdna_length": 26098,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "QS?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 169,
"exon_rank_end": null,
"exon_count": 181,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.24078_24081dupTCAA",
"hgvs_p": "p.Glu8028fs",
"transcript": "XM_017004177.2",
"protein_id": "XP_016859666.1",
"transcript_support_level": null,
"aa_start": 8027,
"aa_end": null,
"aa_length": 8488,
"cds_start": 24081,
"cds_end": null,
"cds_length": 25467,
"cdna_start": 24273,
"cdna_end": null,
"cdna_length": 26080,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "QS?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 168,
"exon_rank_end": null,
"exon_count": 180,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.24003_24006dupTCAA",
"hgvs_p": "p.Glu8003fs",
"transcript": "XM_005246596.3",
"protein_id": "XP_005246653.1",
"transcript_support_level": null,
"aa_start": 8002,
"aa_end": null,
"aa_length": 8463,
"cds_start": 24006,
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"cdna_start": 24198,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "QS?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 170,
"exon_rank_end": null,
"exon_count": 180,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.24189_24192dupTCAA",
"hgvs_p": "p.Glu8065fs",
"transcript": "XM_005246597.3",
"protein_id": "XP_005246654.1",
"transcript_support_level": null,
"aa_start": 8064,
"aa_end": null,
"aa_length": 8463,
"cds_start": 24192,
"cds_end": null,
"cds_length": 25392,
"cdna_start": 24384,
"cdna_end": null,
"cdna_length": 26005,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "QS?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 170,
"exon_rank_end": null,
"exon_count": 180,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.24189_24192dupTCAA",
"hgvs_p": "p.Glu8065fs",
"transcript": "XM_005246598.3",
"protein_id": "XP_005246655.1",
"transcript_support_level": null,
"aa_start": 8064,
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"cds_start": 24192,
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"cdna_start": 24384,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"aa_alt": "QS?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 168,
"exon_rank_end": null,
"exon_count": 180,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.24003_24006dupTCAA",
"hgvs_p": "p.Glu8003fs",
"transcript": "XM_017004178.2",
"protein_id": "XP_016859667.1",
"transcript_support_level": null,
"aa_start": 8002,
"aa_end": null,
"aa_length": 8463,
"cds_start": 24006,
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"cds_length": 25392,
"cdna_start": 24198,
"cdna_end": null,
"cdna_length": 26005,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "QS?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 168,
"exon_rank_end": null,
"exon_count": 180,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.23985_23988dupTCAA",
"hgvs_p": "p.Glu7997fs",
"transcript": "XM_047444477.1",
"protein_id": "XP_047300433.1",
"transcript_support_level": null,
"aa_start": 7996,
"aa_end": null,
"aa_length": 8457,
"cds_start": 23988,
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"cdna_start": 24180,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 166,
"exon_rank_end": null,
"exon_count": 178,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.23460_23463dupTCAA",
"hgvs_p": "p.Glu7822fs",
"transcript": "XM_005246612.3",
"protein_id": "XP_005246669.1",
"transcript_support_level": null,
"aa_start": 7821,
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"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 167,
"exon_rank_end": null,
"exon_count": 179,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.23460_23463dupTCAA",
"hgvs_p": "p.Glu7822fs",
"transcript": "XM_005246613.3",
"protein_id": "XP_005246670.1",
"transcript_support_level": null,
"aa_start": 7821,
"aa_end": null,
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"cds_start": 23463,
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"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 168,
"exon_rank_end": null,
"exon_count": 168,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.24003_24006dupTCAA",
"hgvs_p": "p.Glu8003fs",
"transcript": "XM_005246616.2",
"protein_id": "XP_005246673.1",
"transcript_support_level": null,
"aa_start": 8002,
"aa_end": null,
"aa_length": 8018,
"cds_start": 24006,
"cds_end": null,
"cds_length": 24057,
"cdna_start": 24198,
"cdna_end": null,
"cdna_length": 24249,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "QS?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 159,
"exon_rank_end": null,
"exon_count": 171,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.22002_22005dupTCAA",
"hgvs_p": "p.Glu7336fs",
"transcript": "XM_011511226.3",
"protein_id": "XP_011509528.1",
"transcript_support_level": null,
"aa_start": 7335,
"aa_end": null,
"aa_length": 7796,
"cds_start": 22005,
"cds_end": null,
"cds_length": 23391,
"cdna_start": 22197,
"cdna_end": null,
"cdna_length": 24004,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "QS?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
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"hom_count_reference_population": 0,
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"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
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"revel_score": null,
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"alphamissense_score": null,
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"bayesdelnoaf_score": null,
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"mitotip_score": null,
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"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PP5_Very_Strong",
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{
"score": 16,
"benign_score": 0,
"pathogenic_score": 16,
"criteria": [
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"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000397345.8",
"gene_symbol": "NEB",
"hgnc_id": 7720,
"effects": [
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],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.24189_24192dupTCAA",
"hgvs_p": "p.Glu8065fs"
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{
"score": 10,
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"criteria": [
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"PP5_Very_Strong"
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"verdict": "Pathogenic",
"transcript": "XR_007077530.1",
"gene_symbol": "RIF1",
"hgnc_id": 23207,
"effects": [
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],
"inheritance_mode": "AR",
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}
],
"clinvar_disease": "Arthrogryposis multiplex congenita 6,Nemaline myopathy,Nemaline myopathy 2,See cases,not provided",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:9 LP:2",
"phenotype_combined": "Nemaline myopathy 2|See cases|not provided|Arthrogryposis multiplex congenita 6|Nemaline myopathy",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}