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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: 8-71199385-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=71199385&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 71199385,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "ENST00000340726.8",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "S",
"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": "EYA1",
"gene_hgnc_id": 3519,
"hgvs_c": "c.1734G>A",
"hgvs_p": "p.Ser578Ser",
"transcript": "NM_000503.6",
"protein_id": "NP_000494.2",
"transcript_support_level": null,
"aa_start": 578,
"aa_end": null,
"aa_length": 592,
"cds_start": 1734,
"cds_end": null,
"cds_length": 1779,
"cdna_start": 2211,
"cdna_end": null,
"cdna_length": 4163,
"mane_select": "ENST00000340726.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"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": "EYA1",
"gene_hgnc_id": 3519,
"hgvs_c": "c.1734G>A",
"hgvs_p": "p.Ser578Ser",
"transcript": "ENST00000340726.8",
"protein_id": "ENSP00000342626.3",
"transcript_support_level": 1,
"aa_start": 578,
"aa_end": null,
"aa_length": 592,
"cds_start": 1734,
"cds_end": null,
"cds_length": 1779,
"cdna_start": 2211,
"cdna_end": null,
"cdna_length": 4163,
"mane_select": "NM_000503.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA1",
"gene_hgnc_id": 3519,
"hgvs_c": "c.1734G>A",
"hgvs_p": "p.Ser578Ser",
"transcript": "ENST00000388742.8",
"protein_id": "ENSP00000373394.4",
"transcript_support_level": 1,
"aa_start": 578,
"aa_end": null,
"aa_length": 592,
"cds_start": 1734,
"cds_end": null,
"cds_length": 1779,
"cdna_start": 1955,
"cdna_end": null,
"cdna_length": 3907,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA1",
"gene_hgnc_id": 3519,
"hgvs_c": "c.1629G>A",
"hgvs_p": "p.Ser543Ser",
"transcript": "ENST00000419131.6",
"protein_id": "ENSP00000410176.1",
"transcript_support_level": 1,
"aa_start": 543,
"aa_end": null,
"aa_length": 557,
"cds_start": 1629,
"cds_end": null,
"cds_length": 1674,
"cdna_start": 1683,
"cdna_end": null,
"cdna_length": 3633,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"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": "EYA1",
"gene_hgnc_id": 3519,
"hgvs_c": "c.1821G>A",
"hgvs_p": "p.Ser607Ser",
"transcript": "NM_001370333.1",
"protein_id": "NP_001357262.1",
"transcript_support_level": null,
"aa_start": 607,
"aa_end": null,
"aa_length": 621,
"cds_start": 1821,
"cds_end": null,
"cds_length": 1866,
"cdna_start": 2124,
"cdna_end": null,
"cdna_length": 4076,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"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": "EYA1",
"gene_hgnc_id": 3519,
"hgvs_c": "c.1821G>A",
"hgvs_p": "p.Ser607Ser",
"transcript": "ENST00000643681.1",
"protein_id": "ENSP00000495390.1",
"transcript_support_level": null,
"aa_start": 607,
"aa_end": null,
"aa_length": 621,
"cds_start": 1821,
"cds_end": null,
"cds_length": 1866,
"cdna_start": 2166,
"cdna_end": null,
"cdna_length": 3938,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"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": "EYA1",
"gene_hgnc_id": 3519,
"hgvs_c": "c.1734G>A",
"hgvs_p": "p.Ser578Ser",
"transcript": "NM_001370334.1",
"protein_id": "NP_001357263.1",
"transcript_support_level": null,
"aa_start": 578,
"aa_end": null,
"aa_length": 592,
"cds_start": 1734,
"cds_end": null,
"cds_length": 1779,
"cdna_start": 2157,
"cdna_end": null,
"cdna_length": 4109,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA1",
"gene_hgnc_id": 3519,
"hgvs_c": "c.1734G>A",
"hgvs_p": "p.Ser578Ser",
"transcript": "NM_001370335.1",
"protein_id": "NP_001357264.1",
"transcript_support_level": null,
"aa_start": 578,
"aa_end": null,
"aa_length": 592,
"cds_start": 1734,
"cds_end": null,
"cds_length": 1779,
"cdna_start": 2413,
"cdna_end": null,
"cdna_length": 4365,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA1",
"gene_hgnc_id": 3519,
"hgvs_c": "c.1734G>A",
"hgvs_p": "p.Ser578Ser",
"transcript": "NM_172058.4",
"protein_id": "NP_742055.1",
"transcript_support_level": null,
"aa_start": 578,
"aa_end": null,
"aa_length": 592,
"cds_start": 1734,
"cds_end": null,
"cds_length": 1779,
"cdna_start": 1983,
"cdna_end": null,
"cdna_length": 3935,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA1",
"gene_hgnc_id": 3519,
"hgvs_c": "c.1734G>A",
"hgvs_p": "p.Ser578Ser",
"transcript": "ENST00000645793.1",
"protein_id": "ENSP00000496255.1",
"transcript_support_level": null,
"aa_start": 578,
"aa_end": null,
"aa_length": 592,
"cds_start": 1734,
"cds_end": null,
"cds_length": 1779,
"cdna_start": 2380,
"cdna_end": null,
"cdna_length": 4254,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"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": "EYA1",
"gene_hgnc_id": 3519,
"hgvs_c": "c.1734G>A",
"hgvs_p": "p.Ser578Ser",
"transcript": "ENST00000647540.1",
"protein_id": "ENSP00000494438.1",
"transcript_support_level": null,
"aa_start": 578,
"aa_end": null,
"aa_length": 592,
"cds_start": 1734,
"cds_end": null,
"cds_length": 1779,
"cdna_start": 2079,
"cdna_end": null,
"cdna_length": 3943,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA1",
"gene_hgnc_id": 3519,
"hgvs_c": "c.1731G>A",
"hgvs_p": "p.Ser577Ser",
"transcript": "ENST00000388743.6",
"protein_id": "ENSP00000373395.2",
"transcript_support_level": 5,
"aa_start": 577,
"aa_end": null,
"aa_length": 591,
"cds_start": 1731,
"cds_end": null,
"cds_length": 1776,
"cdna_start": 1883,
"cdna_end": null,
"cdna_length": 2199,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"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": "EYA1",
"gene_hgnc_id": 3519,
"hgvs_c": "c.1716G>A",
"hgvs_p": "p.Ser572Ser",
"transcript": "NM_001288574.2",
"protein_id": "NP_001275503.1",
"transcript_support_level": null,
"aa_start": 572,
"aa_end": null,
"aa_length": 586,
"cds_start": 1716,
"cds_end": null,
"cds_length": 1761,
"cdna_start": 2193,
"cdna_end": null,
"cdna_length": 4145,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"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": "EYA1",
"gene_hgnc_id": 3519,
"hgvs_c": "c.1716G>A",
"hgvs_p": "p.Ser572Ser",
"transcript": "NM_172059.5",
"protein_id": "NP_742056.2",
"transcript_support_level": null,
"aa_start": 572,
"aa_end": null,
"aa_length": 586,
"cds_start": 1716,
"cds_end": null,
"cds_length": 1761,
"cdna_start": 1978,
"cdna_end": null,
"cdna_length": 3930,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"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": "EYA1",
"gene_hgnc_id": 3519,
"hgvs_c": "c.1716G>A",
"hgvs_p": "p.Ser572Ser",
"transcript": "ENST00000303824.11",
"protein_id": "ENSP00000303221.7",
"transcript_support_level": 2,
"aa_start": 572,
"aa_end": null,
"aa_length": 586,
"cds_start": 1716,
"cds_end": null,
"cds_length": 1761,
"cdna_start": 1984,
"cdna_end": null,
"cdna_length": 3930,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"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": "EYA1",
"gene_hgnc_id": 3519,
"hgvs_c": "c.1716G>A",
"hgvs_p": "p.Ser572Ser",
"transcript": "ENST00000644229.1",
"protein_id": "ENSP00000494568.1",
"transcript_support_level": null,
"aa_start": 572,
"aa_end": null,
"aa_length": 586,
"cds_start": 1716,
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"cdna_start": 1921,
"cdna_end": null,
"cdna_length": 3618,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"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": "EYA1",
"gene_hgnc_id": 3519,
"hgvs_c": "c.1713G>A",
"hgvs_p": "p.Ser571Ser",
"transcript": "NM_001370336.1",
"protein_id": "NP_001357265.1",
"transcript_support_level": null,
"aa_start": 571,
"aa_end": null,
"aa_length": 585,
"cds_start": 1713,
"cds_end": null,
"cds_length": 1758,
"cdna_start": 2016,
"cdna_end": null,
"cdna_length": 3968,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"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": "EYA1",
"gene_hgnc_id": 3519,
"hgvs_c": "c.1713G>A",
"hgvs_p": "p.Ser571Ser",
"transcript": "ENST00000644712.1",
"protein_id": "ENSP00000496188.1",
"transcript_support_level": null,
"aa_start": 571,
"aa_end": null,
"aa_length": 585,
"cds_start": 1713,
"cds_end": null,
"cds_length": 1758,
"cdna_start": 1977,
"cdna_end": null,
"cdna_length": 3201,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA1",
"gene_hgnc_id": 3519,
"hgvs_c": "c.1635G>A",
"hgvs_p": "p.Ser545Ser",
"transcript": "NM_001411797.1",
"protein_id": "NP_001398726.1",
"transcript_support_level": null,
"aa_start": 545,
"aa_end": null,
"aa_length": 559,
"cds_start": 1635,
"cds_end": null,
"cds_length": 1680,
"cdna_start": 2083,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA1",
"gene_hgnc_id": 3519,
"hgvs_c": "c.1635G>A",
"hgvs_p": "p.Ser545Ser",
"transcript": "NM_172060.4",
"protein_id": "NP_742057.1",
"transcript_support_level": null,
"aa_start": 545,
"aa_end": null,
"aa_length": 559,
"cds_start": 1635,
"cds_end": null,
"cds_length": 1680,
"cdna_start": 1855,
"cdna_end": null,
"cdna_length": 3807,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA1",
"gene_hgnc_id": 3519,
"hgvs_c": "c.1635G>A",
"hgvs_p": "p.Ser545Ser",
"transcript": "ENST00000388740.4",
"protein_id": "ENSP00000373392.3",
"transcript_support_level": 5,
"aa_start": 545,
"aa_end": null,
"aa_length": 559,
"cds_start": 1635,
"cds_end": null,
"cds_length": 1680,
"cdna_start": 1838,
"cdna_end": null,
"cdna_length": 3788,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA1",
"gene_hgnc_id": 3519,
"hgvs_c": "c.1632G>A",
"hgvs_p": "p.Ser544Ser",
"transcript": "ENST00000388741.7",
"protein_id": "ENSP00000373393.2",
"transcript_support_level": 5,
"aa_start": 544,
"aa_end": null,
"aa_length": 558,
"cds_start": 1632,
"cds_end": null,
"cds_length": 1677,
"cdna_start": 2147,
"cdna_end": null,
"cdna_length": 2484,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"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": "EYA1",
"gene_hgnc_id": 3519,
"hgvs_c": "c.1368G>A",
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],
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"phylop100way_score": -1.39,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.08,
"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": null,
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"acmg_score": -21,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BS1,BS2",
"acmg_by_gene": [
{
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"criteria": [
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"BP6_Very_Strong",
"BP7",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000340726.8",
"gene_symbol": "EYA1",
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"effects": [
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],
"inheritance_mode": "AD",
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"hgvs_p": "p.Ser578Ser"
},
{
"score": -12,
"benign_score": 12,
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"criteria": [
"BP4_Strong",
"BP6_Very_Strong"
],
"verdict": "Benign",
"transcript": "ENST00000521685.5",
"gene_symbol": "ENSG00000254031",
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"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.476+40C>T",
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},
{
"score": -12,
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"criteria": [
"BP4_Strong",
"BP6_Very_Strong"
],
"verdict": "Benign",
"transcript": "ENST00000647843.1",
"gene_symbol": "ENSG00000285579",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.793+40C>T",
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},
{
"score": -12,
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"criteria": [
"BP4_Strong",
"BP6_Very_Strong"
],
"verdict": "Benign",
"transcript": "XR_001745954.2",
"gene_symbol": "LOC105375894",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.206+40C>T",
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}
],
"clinvar_disease": "Melnick-Fraser syndrome,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:1 B:1",
"phenotype_combined": "Melnick-Fraser syndrome|not specified",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}