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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: 14-58267498-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=58267498&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 58267498,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_002788.4",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMA3",
"gene_hgnc_id": 9532,
"hgvs_c": "c.568A>G",
"hgvs_p": "p.Ile190Val",
"transcript": "NM_002788.4",
"protein_id": "NP_002779.1",
"transcript_support_level": null,
"aa_start": 190,
"aa_end": null,
"aa_length": 255,
"cds_start": 568,
"cds_end": null,
"cds_length": 768,
"cdna_start": 646,
"cdna_end": null,
"cdna_length": 955,
"mane_select": "ENST00000216455.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002788.4"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMA3",
"gene_hgnc_id": 9532,
"hgvs_c": "c.568A>G",
"hgvs_p": "p.Ile190Val",
"transcript": "ENST00000216455.9",
"protein_id": "ENSP00000216455.4",
"transcript_support_level": 1,
"aa_start": 190,
"aa_end": null,
"aa_length": 255,
"cds_start": 568,
"cds_end": null,
"cds_length": 768,
"cdna_start": 646,
"cdna_end": null,
"cdna_length": 955,
"mane_select": "NM_002788.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000216455.9"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMA3",
"gene_hgnc_id": 9532,
"hgvs_c": "c.547A>G",
"hgvs_p": "p.Ile183Val",
"transcript": "ENST00000412908.6",
"protein_id": "ENSP00000390491.2",
"transcript_support_level": 1,
"aa_start": 183,
"aa_end": null,
"aa_length": 248,
"cds_start": 547,
"cds_end": null,
"cds_length": 747,
"cdna_start": 591,
"cdna_end": null,
"cdna_length": 908,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000412908.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "PSMA3-AS1",
"gene_hgnc_id": 26445,
"hgvs_c": "n.447-105T>C",
"hgvs_p": null,
"transcript": "ENST00000554360.5",
"protein_id": null,
"transcript_support_level": 1,
"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": 2475,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000554360.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "PSMA3-AS1",
"gene_hgnc_id": 26445,
"hgvs_c": "n.452-105T>C",
"hgvs_p": null,
"transcript": "ENST00000554378.5",
"protein_id": null,
"transcript_support_level": 1,
"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": 741,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000554378.5"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMA3",
"gene_hgnc_id": 9532,
"hgvs_c": "c.568A>G",
"hgvs_p": "p.Ile190Val",
"transcript": "ENST00000925587.1",
"protein_id": "ENSP00000595646.1",
"transcript_support_level": null,
"aa_start": 190,
"aa_end": null,
"aa_length": 264,
"cds_start": 568,
"cds_end": null,
"cds_length": 795,
"cdna_start": 749,
"cdna_end": null,
"cdna_length": 1088,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925587.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMA3",
"gene_hgnc_id": 9532,
"hgvs_c": "c.547A>G",
"hgvs_p": "p.Ile183Val",
"transcript": "NM_152132.3",
"protein_id": "NP_687033.1",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 248,
"cds_start": 547,
"cds_end": null,
"cds_length": 747,
"cdna_start": 625,
"cdna_end": null,
"cdna_length": 934,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_152132.3"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMA3",
"gene_hgnc_id": 9532,
"hgvs_c": "c.502A>G",
"hgvs_p": "p.Ile168Val",
"transcript": "ENST00000876656.1",
"protein_id": "ENSP00000546715.1",
"transcript_support_level": null,
"aa_start": 168,
"aa_end": null,
"aa_length": 233,
"cds_start": 502,
"cds_end": null,
"cds_length": 702,
"cdna_start": 570,
"cdna_end": null,
"cdna_length": 884,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876656.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMA3",
"gene_hgnc_id": 9532,
"hgvs_c": "c.487A>G",
"hgvs_p": "p.Ile163Val",
"transcript": "ENST00000964944.1",
"protein_id": "ENSP00000635003.1",
"transcript_support_level": null,
"aa_start": 163,
"aa_end": null,
"aa_length": 228,
"cds_start": 487,
"cds_end": null,
"cds_length": 687,
"cdna_start": 551,
"cdna_end": null,
"cdna_length": 864,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964944.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMA3",
"gene_hgnc_id": 9532,
"hgvs_c": "c.466A>G",
"hgvs_p": "p.Ile156Val",
"transcript": "ENST00000925588.1",
"protein_id": "ENSP00000595647.1",
"transcript_support_level": null,
"aa_start": 156,
"aa_end": null,
"aa_length": 221,
"cds_start": 466,
"cds_end": null,
"cds_length": 666,
"cdna_start": 490,
"cdna_end": null,
"cdna_length": 799,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925588.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMA3",
"gene_hgnc_id": 9532,
"hgvs_c": "c.361A>G",
"hgvs_p": "p.Ile121Val",
"transcript": "ENST00000876655.1",
"protein_id": "ENSP00000546714.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 186,
"cds_start": 361,
"cds_end": null,
"cds_length": 561,
"cdna_start": 448,
"cdna_end": null,
"cdna_length": 754,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876655.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMA3",
"gene_hgnc_id": 9532,
"hgvs_c": "c.343A>G",
"hgvs_p": "p.Ile115Val",
"transcript": "ENST00000557508.5",
"protein_id": "ENSP00000452056.1",
"transcript_support_level": 5,
"aa_start": 115,
"aa_end": null,
"aa_length": 180,
"cds_start": 343,
"cds_end": null,
"cds_length": 543,
"cdna_start": 502,
"cdna_end": null,
"cdna_length": 814,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000557508.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PSMA3",
"gene_hgnc_id": 9532,
"hgvs_c": "c.75-2920A>G",
"hgvs_p": null,
"transcript": "ENST00000553677.1",
"protein_id": "ENSP00000450573.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 83,
"cds_start": null,
"cds_end": null,
"cds_length": 252,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 363,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000553677.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMA3",
"gene_hgnc_id": 9532,
"hgvs_c": "n.272A>G",
"hgvs_p": null,
"transcript": "ENST00000554207.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 570,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000554207.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMA3",
"gene_hgnc_id": 9532,
"hgvs_c": "n.638A>G",
"hgvs_p": null,
"transcript": "ENST00000554812.5",
"protein_id": null,
"transcript_support_level": 2,
"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": 1279,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000554812.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMA3",
"gene_hgnc_id": 9532,
"hgvs_c": "n.610A>G",
"hgvs_p": null,
"transcript": "ENST00000555743.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 640,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000555743.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMA3",
"gene_hgnc_id": 9532,
"hgvs_c": "n.*387A>G",
"hgvs_p": null,
"transcript": "ENST00000555931.5",
"protein_id": "ENSP00000452437.1",
"transcript_support_level": 4,
"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": 606,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000555931.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMA3",
"gene_hgnc_id": 9532,
"hgvs_c": "n.*333A>G",
"hgvs_p": null,
"transcript": "ENST00000557087.5",
"protein_id": "ENSP00000451461.1",
"transcript_support_level": 3,
"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": 654,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000557087.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMA3",
"gene_hgnc_id": 9532,
"hgvs_c": "n.563A>G",
"hgvs_p": null,
"transcript": "NR_038123.2",
"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": 872,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_038123.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMA3",
"gene_hgnc_id": 9532,
"hgvs_c": "n.*387A>G",
"hgvs_p": null,
"transcript": "ENST00000555931.5",
"protein_id": "ENSP00000452437.1",
"transcript_support_level": 4,
"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": 606,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000555931.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMA3",
"gene_hgnc_id": 9532,
"hgvs_c": "n.*333A>G",
"hgvs_p": null,
"transcript": "ENST00000557087.5",
"protein_id": "ENSP00000451461.1",
"transcript_support_level": 3,
"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": 654,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000557087.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ARMH4",
"gene_hgnc_id": 19846,
"hgvs_c": "n.258+24137T>C",
"hgvs_p": null,
"transcript": "ENST00000554218.1",
"protein_id": null,
"transcript_support_level": 4,
"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": 572,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000554218.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
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],
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"computational_prediction_selected": "Benign",
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"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.04,
"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.62,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"apogee2_prediction": null,
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"acmg_score": -5,
"acmg_classification": "Likely_benign",
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"acmg_by_gene": [
{
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"criteria": [
"BP4_Strong",
"BP6"
],
"verdict": "Likely_benign",
"transcript": "NM_002788.4",
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"effects": [
"missense_variant"
],
"inheritance_mode": "Digenic",
"hgvs_c": "c.568A>G",
"hgvs_p": "p.Ile190Val"
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{
"score": -5,
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"criteria": [
"BP4_Strong",
"BP6"
],
"verdict": "Likely_benign",
"transcript": "ENST00000554360.5",
"gene_symbol": "PSMA3-AS1",
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"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.447-105T>C",
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},
{
"score": -5,
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"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6"
],
"verdict": "Likely_benign",
"transcript": "ENST00000557322.1",
"gene_symbol": "ENSG00000258682",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.456-2063A>G",
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},
{
"score": -5,
"benign_score": 5,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6"
],
"verdict": "Likely_benign",
"transcript": "ENST00000554218.1",
"gene_symbol": "ARMH4",
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"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
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}
],
"clinvar_disease": "not provided,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:1",
"phenotype_combined": "not provided|not specified",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}