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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: 3-52548224-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=52548224&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 52548224,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000707071.1",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.4954G>T",
"hgvs_p": "p.Asp1652Tyr",
"transcript": "ENST00000707071.1",
"protein_id": "ENSP00000516722.1",
"transcript_support_level": null,
"aa_start": 1652,
"aa_end": null,
"aa_length": 1704,
"cds_start": 4954,
"cds_end": null,
"cds_length": 5115,
"cdna_start": 5134,
"cdna_end": null,
"cdna_length": 7991,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.4909G>T",
"hgvs_p": "p.Asp1637Tyr",
"transcript": "ENST00000296302.11",
"protein_id": "ENSP00000296302.7",
"transcript_support_level": 1,
"aa_start": 1637,
"aa_end": null,
"aa_length": 1689,
"cds_start": 4909,
"cds_end": null,
"cds_length": 5070,
"cdna_start": 4911,
"cdna_end": null,
"cdna_length": 5145,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.4798G>T",
"hgvs_p": "p.Asp1600Tyr",
"transcript": "ENST00000409114.7",
"protein_id": "ENSP00000386643.3",
"transcript_support_level": 1,
"aa_start": 1600,
"aa_end": null,
"aa_length": 1652,
"cds_start": 4798,
"cds_end": null,
"cds_length": 4959,
"cdna_start": 4801,
"cdna_end": null,
"cdna_length": 5015,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.4744G>T",
"hgvs_p": "p.Asp1582Tyr",
"transcript": "ENST00000409057.5",
"protein_id": "ENSP00000386593.1",
"transcript_support_level": 1,
"aa_start": 1582,
"aa_end": null,
"aa_length": 1634,
"cds_start": 4744,
"cds_end": null,
"cds_length": 4905,
"cdna_start": 4747,
"cdna_end": null,
"cdna_length": 4980,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.4669G>T",
"hgvs_p": "p.Asp1557Tyr",
"transcript": "ENST00000410007.5",
"protein_id": "ENSP00000386529.1",
"transcript_support_level": 1,
"aa_start": 1557,
"aa_end": null,
"aa_length": 1609,
"cds_start": 4669,
"cds_end": null,
"cds_length": 4830,
"cdna_start": 4672,
"cdna_end": null,
"cdna_length": 4905,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.4648G>T",
"hgvs_p": "p.Asp1550Tyr",
"transcript": "ENST00000356770.8",
"protein_id": "ENSP00000349213.4",
"transcript_support_level": 1,
"aa_start": 1550,
"aa_end": null,
"aa_length": 1602,
"cds_start": 4648,
"cds_end": null,
"cds_length": 4809,
"cdna_start": 4651,
"cdna_end": null,
"cdna_length": 7523,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.4633G>T",
"hgvs_p": "p.Asp1545Tyr",
"transcript": "ENST00000409767.5",
"protein_id": "ENSP00000386601.1",
"transcript_support_level": 1,
"aa_start": 1545,
"aa_end": null,
"aa_length": 1597,
"cds_start": 4633,
"cds_end": null,
"cds_length": 4794,
"cdna_start": 4636,
"cdna_end": null,
"cdna_length": 4849,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.4588G>T",
"hgvs_p": "p.Asp1530Tyr",
"transcript": "ENST00000337303.8",
"protein_id": "ENSP00000338302.4",
"transcript_support_level": 1,
"aa_start": 1530,
"aa_end": null,
"aa_length": 1582,
"cds_start": 4588,
"cds_end": null,
"cds_length": 4749,
"cdna_start": 4591,
"cdna_end": null,
"cdna_length": 4825,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.4588G>T",
"hgvs_p": "p.Asp1530Tyr",
"transcript": "ENST00000394830.7",
"protein_id": "ENSP00000378307.3",
"transcript_support_level": 1,
"aa_start": 1530,
"aa_end": null,
"aa_length": 1582,
"cds_start": 4588,
"cds_end": null,
"cds_length": 4749,
"cdna_start": 4688,
"cdna_end": null,
"cdna_length": 5071,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "n.*1958G>T",
"hgvs_p": null,
"transcript": "ENST00000412587.5",
"protein_id": "ENSP00000404579.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4766,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "n.*1958G>T",
"hgvs_p": null,
"transcript": "ENST00000412587.5",
"protein_id": "ENSP00000404579.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4766,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.4954G>T",
"hgvs_p": "p.Asp1652Tyr",
"transcript": "NM_001405601.1",
"protein_id": "NP_001392530.1",
"transcript_support_level": null,
"aa_start": 1652,
"aa_end": null,
"aa_length": 1704,
"cds_start": 4954,
"cds_end": null,
"cds_length": 5115,
"cdna_start": 5131,
"cdna_end": null,
"cdna_length": 7988,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.4954G>T",
"hgvs_p": "p.Asp1652Tyr",
"transcript": "NM_001405607.1",
"protein_id": "NP_001392536.1",
"transcript_support_level": null,
"aa_start": 1652,
"aa_end": null,
"aa_length": 1704,
"cds_start": 4954,
"cds_end": null,
"cds_length": 5115,
"cdna_start": 5134,
"cdna_end": null,
"cdna_length": 7991,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.4936G>T",
"hgvs_p": "p.Asp1646Tyr",
"transcript": "NM_001405598.1",
"protein_id": "NP_001392527.1",
"transcript_support_level": null,
"aa_start": 1646,
"aa_end": null,
"aa_length": 1698,
"cds_start": 4936,
"cds_end": null,
"cds_length": 5097,
"cdna_start": 5116,
"cdna_end": null,
"cdna_length": 7973,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.4915G>T",
"hgvs_p": "p.Asp1639Tyr",
"transcript": "NM_001405570.1",
"protein_id": "NP_001392499.1",
"transcript_support_level": null,
"aa_start": 1639,
"aa_end": null,
"aa_length": 1691,
"cds_start": 4915,
"cds_end": null,
"cds_length": 5076,
"cdna_start": 5092,
"cdna_end": null,
"cdna_length": 7949,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.4909G>T",
"hgvs_p": "p.Asp1637Tyr",
"transcript": "NM_001394867.1",
"protein_id": "NP_001381796.1",
"transcript_support_level": null,
"aa_start": 1637,
"aa_end": null,
"aa_length": 1689,
"cds_start": 4909,
"cds_end": null,
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"cdna_start": 5231,
"cdna_end": null,
"cdna_length": 8088,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.4909G>T",
"hgvs_p": "p.Asp1637Tyr",
"transcript": "NM_001394868.1",
"protein_id": "NP_001381797.1",
"transcript_support_level": null,
"aa_start": 1637,
"aa_end": null,
"aa_length": 1689,
"cds_start": 4909,
"cds_end": null,
"cds_length": 5070,
"cdna_start": 5086,
"cdna_end": null,
"cdna_length": 7943,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.4909G>T",
"hgvs_p": "p.Asp1637Tyr",
"transcript": "NM_001394869.1",
"protein_id": "NP_001381798.1",
"transcript_support_level": null,
"aa_start": 1637,
"aa_end": null,
"aa_length": 1689,
"cds_start": 4909,
"cds_end": null,
"cds_length": 5070,
"cdna_start": 5230,
"cdna_end": null,
"cdna_length": 8087,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.4909G>T",
"hgvs_p": "p.Asp1637Tyr",
"transcript": "NM_001400470.1",
"protein_id": "NP_001387399.1",
"transcript_support_level": null,
"aa_start": 1637,
"aa_end": null,
"aa_length": 1689,
"cds_start": 4909,
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"cdna_start": 5089,
"cdna_end": null,
"cdna_length": 7946,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.4909G>T",
"hgvs_p": "p.Asp1637Tyr",
"transcript": "NM_001405581.1",
"protein_id": "NP_001392510.1",
"transcript_support_level": null,
"aa_start": 1637,
"aa_end": null,
"aa_length": 1689,
"cds_start": 4909,
"cds_end": null,
"cds_length": 5070,
"cdna_start": 4948,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.4909G>T",
"hgvs_p": "p.Asp1637Tyr",
"transcript": "NM_001405594.1",
"protein_id": "NP_001392523.1",
"transcript_support_level": null,
"aa_start": 1637,
"aa_end": null,
"aa_length": 1689,
"cds_start": 4909,
"cds_end": null,
"cds_length": 5070,
"cdna_start": 5228,
"cdna_end": null,
"cdna_length": 8085,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.4909G>T",
"hgvs_p": "p.Asp1637Tyr",
"transcript": "NM_001405603.1",
"protein_id": "NP_001392532.1",
"transcript_support_level": null,
"aa_start": 1637,
"aa_end": null,
"aa_length": 1689,
"cds_start": 4909,
"cds_end": null,
"cds_length": 5070,
"cdna_start": 5290,
"cdna_end": null,
"cdna_length": 8147,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
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},
{
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},
{
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},
{
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],
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}
],
"gene_symbol": "PBRM1",
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"dbsnp": "rs201397730",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
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"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.4,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.762,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.13,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.818,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0,
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
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"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000707071.1",
"gene_symbol": "PBRM1",
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"effects": [
"missense_variant"
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"inheritance_mode": "AD",
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{
"score": 3,
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"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000476842.1",
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"effects": [
"intron_variant"
],
"inheritance_mode": "",
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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
}