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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: 10-70772523-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=70772523&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 70772523,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001318241.2",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBATA",
"gene_hgnc_id": 23511,
"hgvs_c": "c.964G>A",
"hgvs_p": "p.Glu322Lys",
"transcript": "NM_001318241.2",
"protein_id": "NP_001305170.1",
"transcript_support_level": null,
"aa_start": 322,
"aa_end": null,
"aa_length": 352,
"cds_start": 964,
"cds_end": null,
"cds_length": 1059,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000456372.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318241.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBATA",
"gene_hgnc_id": 23511,
"hgvs_c": "c.964G>A",
"hgvs_p": "p.Glu322Lys",
"transcript": "ENST00000456372.4",
"protein_id": "ENSP00000400224.3",
"transcript_support_level": 1,
"aa_start": 322,
"aa_end": null,
"aa_length": 352,
"cds_start": 964,
"cds_end": null,
"cds_length": 1059,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001318241.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000456372.4"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBATA",
"gene_hgnc_id": 23511,
"hgvs_c": "c.961G>A",
"hgvs_p": "p.Glu321Lys",
"transcript": "ENST00000299290.5",
"protein_id": "ENSP00000299290.1",
"transcript_support_level": 1,
"aa_start": 321,
"aa_end": null,
"aa_length": 351,
"cds_start": 961,
"cds_end": null,
"cds_length": 1056,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000299290.5"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBATA",
"gene_hgnc_id": 23511,
"hgvs_c": "c.961G>A",
"hgvs_p": "p.Glu321Lys",
"transcript": "ENST00000692183.1",
"protein_id": "ENSP00000509602.1",
"transcript_support_level": null,
"aa_start": 321,
"aa_end": null,
"aa_length": 351,
"cds_start": 961,
"cds_end": null,
"cds_length": 1056,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000692183.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBATA",
"gene_hgnc_id": 23511,
"hgvs_c": "c.961G>A",
"hgvs_p": "p.Glu321Lys",
"transcript": "NM_001318242.2",
"protein_id": "NP_001305171.1",
"transcript_support_level": null,
"aa_start": 321,
"aa_end": null,
"aa_length": 351,
"cds_start": 961,
"cds_end": null,
"cds_length": 1056,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318242.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBATA",
"gene_hgnc_id": 23511,
"hgvs_c": "c.961G>A",
"hgvs_p": "p.Glu321Lys",
"transcript": "NM_152710.4",
"protein_id": "NP_689923.3",
"transcript_support_level": null,
"aa_start": 321,
"aa_end": null,
"aa_length": 351,
"cds_start": 961,
"cds_end": null,
"cds_length": 1056,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_152710.4"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBATA",
"gene_hgnc_id": 23511,
"hgvs_c": "c.958G>A",
"hgvs_p": "p.Glu320Lys",
"transcript": "NM_001318243.2",
"protein_id": "NP_001305172.1",
"transcript_support_level": null,
"aa_start": 320,
"aa_end": null,
"aa_length": 350,
"cds_start": 958,
"cds_end": null,
"cds_length": 1053,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318243.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBATA",
"gene_hgnc_id": 23511,
"hgvs_c": "c.958G>A",
"hgvs_p": "p.Glu320Lys",
"transcript": "ENST00000689622.1",
"protein_id": "ENSP00000509608.1",
"transcript_support_level": null,
"aa_start": 320,
"aa_end": null,
"aa_length": 350,
"cds_start": 958,
"cds_end": null,
"cds_length": 1053,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000689622.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBATA",
"gene_hgnc_id": 23511,
"hgvs_c": "c.1106G>A",
"hgvs_p": "p.Arg369Gln",
"transcript": "XM_017015848.2",
"protein_id": "XP_016871337.1",
"transcript_support_level": null,
"aa_start": 369,
"aa_end": null,
"aa_length": 434,
"cds_start": 1106,
"cds_end": null,
"cds_length": 1305,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017015848.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBATA",
"gene_hgnc_id": 23511,
"hgvs_c": "c.1057G>A",
"hgvs_p": "p.Glu353Lys",
"transcript": "XM_017015853.2",
"protein_id": "XP_016871342.1",
"transcript_support_level": null,
"aa_start": 353,
"aa_end": null,
"aa_length": 383,
"cds_start": 1057,
"cds_end": null,
"cds_length": 1152,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017015853.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBATA",
"gene_hgnc_id": 23511,
"hgvs_c": "c.1106G>A",
"hgvs_p": "p.Arg369Gln",
"transcript": "XM_017015854.2",
"protein_id": "XP_016871343.1",
"transcript_support_level": null,
"aa_start": 369,
"aa_end": null,
"aa_length": 382,
"cds_start": 1106,
"cds_end": null,
"cds_length": 1149,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017015854.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBATA",
"gene_hgnc_id": 23511,
"hgvs_c": "c.1106G>A",
"hgvs_p": "p.Arg369Gln",
"transcript": "XM_017015855.2",
"protein_id": "XP_016871344.1",
"transcript_support_level": null,
"aa_start": 369,
"aa_end": null,
"aa_length": 382,
"cds_start": 1106,
"cds_end": null,
"cds_length": 1149,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017015855.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBATA",
"gene_hgnc_id": 23511,
"hgvs_c": "c.1057G>A",
"hgvs_p": "p.Glu353Lys",
"transcript": "XM_017015856.2",
"protein_id": "XP_016871345.1",
"transcript_support_level": null,
"aa_start": 353,
"aa_end": null,
"aa_length": 372,
"cds_start": 1057,
"cds_end": null,
"cds_length": 1119,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017015856.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBATA",
"gene_hgnc_id": 23511,
"hgvs_c": "c.1057G>A",
"hgvs_p": "p.Glu353Lys",
"transcript": "XM_017015857.2",
"protein_id": "XP_016871346.1",
"transcript_support_level": null,
"aa_start": 353,
"aa_end": null,
"aa_length": 360,
"cds_start": 1057,
"cds_end": null,
"cds_length": 1083,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017015857.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBATA",
"gene_hgnc_id": 23511,
"hgvs_c": "c.830G>A",
"hgvs_p": "p.Arg277Gln",
"transcript": "XM_017015860.2",
"protein_id": "XP_016871349.1",
"transcript_support_level": null,
"aa_start": 277,
"aa_end": null,
"aa_length": 342,
"cds_start": 830,
"cds_end": null,
"cds_length": 1029,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017015860.2"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBATA",
"gene_hgnc_id": 23511,
"hgvs_c": "c.1152G>A",
"hgvs_p": "p.Ala384Ala",
"transcript": "XM_017015845.2",
"protein_id": "XP_016871334.1",
"transcript_support_level": null,
"aa_start": 384,
"aa_end": null,
"aa_length": 446,
"cds_start": 1152,
"cds_end": null,
"cds_length": 1341,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017015845.2"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBATA",
"gene_hgnc_id": 23511,
"hgvs_c": "c.1152G>A",
"hgvs_p": "p.Ala384Ala",
"transcript": "XM_017015846.2",
"protein_id": "XP_016871335.1",
"transcript_support_level": null,
"aa_start": 384,
"aa_end": null,
"aa_length": 443,
"cds_start": 1152,
"cds_end": null,
"cds_length": 1332,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017015846.2"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBATA",
"gene_hgnc_id": 23511,
"hgvs_c": "c.1152G>A",
"hgvs_p": "p.Ala384Ala",
"transcript": "XM_017015847.2",
"protein_id": "XP_016871336.1",
"transcript_support_level": null,
"aa_start": 384,
"aa_end": null,
"aa_length": 437,
"cds_start": 1152,
"cds_end": null,
"cds_length": 1314,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017015847.2"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBATA",
"gene_hgnc_id": 23511,
"hgvs_c": "c.1152G>A",
"hgvs_p": "p.Ala384Ala",
"transcript": "XM_017015849.2",
"protein_id": "XP_016871338.1",
"transcript_support_level": null,
"aa_start": 384,
"aa_end": null,
"aa_length": 418,
"cds_start": 1152,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017015849.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBATA",
"gene_hgnc_id": 23511,
"hgvs_c": "c.*77G>A",
"hgvs_p": null,
"transcript": "XM_047424720.1",
"protein_id": "XP_047280676.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 346,
"cds_start": null,
"cds_end": null,
"cds_length": 1041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047424720.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBATA",
"gene_hgnc_id": 23511,
"hgvs_c": "c.*77G>A",
"hgvs_p": null,
"transcript": "XM_047424721.1",
"protein_id": "XP_047280677.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 341,
"cds_start": null,
"cds_end": null,
"cds_length": 1026,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047424721.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "TBATA",
"gene_hgnc_id": 23511,
"hgvs_c": "c.1014-1062G>A",
"hgvs_p": null,
"transcript": "XM_017015852.2",
"protein_id": "XP_016871341.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 400,
"cds_start": null,
"cds_end": null,
"cds_length": 1203,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017015852.2"
},
{
"aa_ref": null,
"aa_alt": null,
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{
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{
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{
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{
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{
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{
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{
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],
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{
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"feature": "XM_017015859.3"
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{
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],
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"biotype": "pseudogene",
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],
"gene_symbol": "TBATA",
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"dbsnp": "rs202040509",
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"hom_count_reference_population": 0,
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"gnomad_genomes_ac": 13,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
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"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.11144709587097168,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.17000000178813934,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.103,
"revel_prediction": "Benign",
"alphamissense_score": 0.0967,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.43,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.528,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.17,
"spliceai_max_prediction": "Benign",
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"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_001318241.2",
"gene_symbol": "TBATA",
"hgnc_id": 23511,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.964G>A",
"hgvs_p": "p.Glu322Lys"
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],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}