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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: 8-42870005-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=42870005&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 42870005,
"ref": "A",
"alt": "G",
"effect": "splice_region_variant,synonymous_variant",
"transcript": "NM_030954.4",
"consequences": [
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF170",
"gene_hgnc_id": 25358,
"hgvs_c": "c.321T>C",
"hgvs_p": "p.Cys107Cys",
"transcript": "NM_030954.4",
"protein_id": "NP_112216.3",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 258,
"cds_start": 321,
"cds_end": null,
"cds_length": 777,
"cdna_start": 450,
"cdna_end": null,
"cdna_length": 3764,
"mane_select": "ENST00000527424.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_030954.4"
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF170",
"gene_hgnc_id": 25358,
"hgvs_c": "c.321T>C",
"hgvs_p": "p.Cys107Cys",
"transcript": "ENST00000527424.6",
"protein_id": "ENSP00000434797.1",
"transcript_support_level": 1,
"aa_start": 107,
"aa_end": null,
"aa_length": 258,
"cds_start": 321,
"cds_end": null,
"cds_length": 777,
"cdna_start": 450,
"cdna_end": null,
"cdna_length": 3764,
"mane_select": "NM_030954.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000527424.6"
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF170",
"gene_hgnc_id": 25358,
"hgvs_c": "c.321T>C",
"hgvs_p": "p.Cys107Cys",
"transcript": "ENST00000534961.5",
"protein_id": "ENSP00000445725.1",
"transcript_support_level": 1,
"aa_start": 107,
"aa_end": null,
"aa_length": 258,
"cds_start": 321,
"cds_end": null,
"cds_length": 777,
"cdna_start": 798,
"cdna_end": null,
"cdna_length": 4116,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000534961.5"
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF170",
"gene_hgnc_id": 25358,
"hgvs_c": "c.321T>C",
"hgvs_p": "p.Cys107Cys",
"transcript": "ENST00000319104.7",
"protein_id": "ENSP00000326138.3",
"transcript_support_level": 1,
"aa_start": 107,
"aa_end": null,
"aa_length": 200,
"cds_start": 321,
"cds_end": null,
"cds_length": 603,
"cdna_start": 430,
"cdna_end": null,
"cdna_length": 1866,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000319104.7"
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF170",
"gene_hgnc_id": 25358,
"hgvs_c": "c.69T>C",
"hgvs_p": "p.Cys23Cys",
"transcript": "ENST00000526349.5",
"protein_id": "ENSP00000435782.1",
"transcript_support_level": 1,
"aa_start": 23,
"aa_end": null,
"aa_length": 174,
"cds_start": 69,
"cds_end": null,
"cds_length": 525,
"cdna_start": 430,
"cdna_end": null,
"cdna_length": 1338,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000526349.5"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF170",
"gene_hgnc_id": 25358,
"hgvs_c": "c.245T>C",
"hgvs_p": "p.Val82Ala",
"transcript": "ENST00000862756.1",
"protein_id": "ENSP00000532815.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 208,
"cds_start": 245,
"cds_end": null,
"cds_length": 627,
"cdna_start": 722,
"cdna_end": null,
"cdna_length": 2033,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862756.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF170",
"gene_hgnc_id": 25358,
"hgvs_c": "c.245T>C",
"hgvs_p": "p.Val82Ala",
"transcript": "ENST00000862759.1",
"protein_id": "ENSP00000532818.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 208,
"cds_start": 245,
"cds_end": null,
"cds_length": 627,
"cdna_start": 408,
"cdna_end": null,
"cdna_length": 1701,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862759.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF170",
"gene_hgnc_id": 25358,
"hgvs_c": "c.245T>C",
"hgvs_p": "p.Val82Ala",
"transcript": "ENST00000969233.1",
"protein_id": "ENSP00000639292.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 171,
"cds_start": 245,
"cds_end": null,
"cds_length": 516,
"cdna_start": 393,
"cdna_end": null,
"cdna_length": 1576,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969233.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF170",
"gene_hgnc_id": 25358,
"hgvs_c": "c.266T>C",
"hgvs_p": "p.Val89Ala",
"transcript": "XM_047422280.1",
"protein_id": "XP_047278236.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 215,
"cds_start": 266,
"cds_end": null,
"cds_length": 648,
"cdna_start": 1402,
"cdna_end": null,
"cdna_length": 4642,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047422280.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF170",
"gene_hgnc_id": 25358,
"hgvs_c": "c.245T>C",
"hgvs_p": "p.Val82Ala",
"transcript": "XM_006716405.4",
"protein_id": "XP_006716468.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 208,
"cds_start": 245,
"cds_end": null,
"cds_length": 627,
"cdna_start": 374,
"cdna_end": null,
"cdna_length": 3614,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006716405.4"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF170",
"gene_hgnc_id": 25358,
"hgvs_c": "c.245T>C",
"hgvs_p": "p.Val82Ala",
"transcript": "XM_047422281.1",
"protein_id": "XP_047278237.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 208,
"cds_start": 245,
"cds_end": null,
"cds_length": 627,
"cdna_start": 312,
"cdna_end": null,
"cdna_length": 3552,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047422281.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF170",
"gene_hgnc_id": 25358,
"hgvs_c": "c.245T>C",
"hgvs_p": "p.Val82Ala",
"transcript": "XM_047422286.1",
"protein_id": "XP_047278242.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 120,
"cds_start": 245,
"cds_end": null,
"cds_length": 363,
"cdna_start": 312,
"cdna_end": null,
"cdna_length": 468,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047422286.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF170",
"gene_hgnc_id": 25358,
"hgvs_c": "c.266T>C",
"hgvs_p": "p.Val89Ala",
"transcript": "XM_047422287.1",
"protein_id": "XP_047278243.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 114,
"cds_start": 266,
"cds_end": null,
"cds_length": 345,
"cdna_start": 1407,
"cdna_end": null,
"cdna_length": 1573,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047422287.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF170",
"gene_hgnc_id": 25358,
"hgvs_c": "c.245T>C",
"hgvs_p": "p.Val82Ala",
"transcript": "XM_047422288.1",
"protein_id": "XP_047278244.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 107,
"cds_start": 245,
"cds_end": null,
"cds_length": 324,
"cdna_start": 374,
"cdna_end": null,
"cdna_length": 540,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047422288.1"
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF170",
"gene_hgnc_id": 25358,
"hgvs_c": "c.321T>C",
"hgvs_p": "p.Cys107Cys",
"transcript": "NM_001160223.2",
"protein_id": "NP_001153695.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 258,
"cds_start": 321,
"cds_end": null,
"cds_length": 777,
"cdna_start": 680,
"cdna_end": null,
"cdna_length": 3994,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001160223.2"
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF170",
"gene_hgnc_id": 25358,
"hgvs_c": "c.321T>C",
"hgvs_p": "p.Cys107Cys",
"transcript": "ENST00000862754.1",
"protein_id": "ENSP00000532813.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 258,
"cds_start": 321,
"cds_end": null,
"cds_length": 777,
"cdna_start": 491,
"cdna_end": null,
"cdna_length": 1408,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862754.1"
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF170",
"gene_hgnc_id": 25358,
"hgvs_c": "c.321T>C",
"hgvs_p": "p.Cys107Cys",
"transcript": "ENST00000862755.1",
"protein_id": "ENSP00000532814.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 258,
"cds_start": 321,
"cds_end": null,
"cds_length": 777,
"cdna_start": 885,
"cdna_end": null,
"cdna_length": 2252,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862755.1"
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF170",
"gene_hgnc_id": 25358,
"hgvs_c": "c.321T>C",
"hgvs_p": "p.Cys107Cys",
"transcript": "ENST00000862758.1",
"protein_id": "ENSP00000532817.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 258,
"cds_start": 321,
"cds_end": null,
"cds_length": 777,
"cdna_start": 658,
"cdna_end": null,
"cdna_length": 2025,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862758.1"
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF170",
"gene_hgnc_id": 25358,
"hgvs_c": "c.321T>C",
"hgvs_p": "p.Cys107Cys",
"transcript": "ENST00000862760.1",
"protein_id": "ENSP00000532819.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 258,
"cds_start": 321,
"cds_end": null,
"cds_length": 777,
"cdna_start": 548,
"cdna_end": null,
"cdna_length": 1915,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862760.1"
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF170",
"gene_hgnc_id": 25358,
"hgvs_c": "c.321T>C",
"hgvs_p": "p.Cys107Cys",
"transcript": "ENST00000862761.1",
"protein_id": "ENSP00000532820.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 258,
"cds_start": 321,
"cds_end": null,
"cds_length": 777,
"cdna_start": 780,
"cdna_end": null,
"cdna_length": 2165,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862761.1"
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF170",
"gene_hgnc_id": 25358,
"hgvs_c": "c.321T>C",
"hgvs_p": "p.Cys107Cys",
"transcript": "ENST00000862762.1",
"protein_id": "ENSP00000532821.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 258,
"cds_start": 321,
"cds_end": null,
"cds_length": 777,
"cdna_start": 1004,
"cdna_end": null,
"cdna_length": 1909,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862762.1"
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
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{
"aa_ref": null,
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"non_coding_transcript_exon_variant"
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{
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"intron_variant"
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"biotype": "pseudogene",
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],
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"hom_count_reference_population": 0,
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"gnomad_exomes_homalt": 0,
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"gnomad_mito_homoplasmic": null,
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"computational_score_selected": 0.13099999725818634,
"computational_prediction_selected": "Benign",
"computational_source_selected": "REVEL",
"splice_score_selected": 0.041999999433755875,
"splice_prediction_selected": "Benign",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.131,
"revel_prediction": "Benign",
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.36,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.886,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": "Benign",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
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"acmg_score": -1,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Moderate,BP7",
"acmg_by_gene": [
{
"score": -1,
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_030954.4",
"gene_symbol": "RNF170",
"hgnc_id": 25358,
"effects": [
"splice_region_variant",
"synonymous_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.321T>C",
"hgvs_p": "p.Cys107Cys"
},
{
"score": 0,
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"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000797430.1",
"gene_symbol": "ENSG00000286837",
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"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.533-6491A>G",
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}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}