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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: 4-150350098-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=150350098&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 150350098,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000651943.2",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 48,
"exon_rank_end": null,
"exon_count": 57,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRBA",
"gene_hgnc_id": 1742,
"hgvs_c": "c.7256A>G",
"hgvs_p": "p.Tyr2419Cys",
"transcript": "NM_001364905.1",
"protein_id": "NP_001351834.1",
"transcript_support_level": null,
"aa_start": 2419,
"aa_end": null,
"aa_length": 2852,
"cds_start": 7256,
"cds_end": null,
"cds_length": 8559,
"cdna_start": 7558,
"cdna_end": null,
"cdna_length": 10148,
"mane_select": "ENST00000651943.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 48,
"exon_rank_end": null,
"exon_count": 57,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRBA",
"gene_hgnc_id": 1742,
"hgvs_c": "c.7256A>G",
"hgvs_p": "p.Tyr2419Cys",
"transcript": "ENST00000651943.2",
"protein_id": "ENSP00000498582.2",
"transcript_support_level": null,
"aa_start": 2419,
"aa_end": null,
"aa_length": 2852,
"cds_start": 7256,
"cds_end": null,
"cds_length": 8559,
"cdna_start": 7558,
"cdna_end": null,
"cdna_length": 10148,
"mane_select": "NM_001364905.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 49,
"exon_rank_end": null,
"exon_count": 58,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRBA",
"gene_hgnc_id": 1742,
"hgvs_c": "c.7289A>G",
"hgvs_p": "p.Tyr2430Cys",
"transcript": "ENST00000357115.9",
"protein_id": "ENSP00000349629.3",
"transcript_support_level": 1,
"aa_start": 2430,
"aa_end": null,
"aa_length": 2863,
"cds_start": 7289,
"cds_end": null,
"cds_length": 8592,
"cdna_start": 7763,
"cdna_end": null,
"cdna_length": 10353,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 48,
"exon_rank_end": null,
"exon_count": 57,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRBA",
"gene_hgnc_id": 1742,
"hgvs_c": "c.7256A>G",
"hgvs_p": "p.Tyr2419Cys",
"transcript": "ENST00000510413.5",
"protein_id": "ENSP00000421552.1",
"transcript_support_level": 1,
"aa_start": 2419,
"aa_end": null,
"aa_length": 2851,
"cds_start": 7256,
"cds_end": null,
"cds_length": 8556,
"cdna_start": 7541,
"cdna_end": null,
"cdna_length": 10032,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRBA",
"gene_hgnc_id": 1742,
"hgvs_c": "c.959A>G",
"hgvs_p": "p.Tyr320Cys",
"transcript": "ENST00000503716.5",
"protein_id": "ENSP00000513123.1",
"transcript_support_level": 1,
"aa_start": 320,
"aa_end": null,
"aa_length": 758,
"cds_start": 959,
"cds_end": null,
"cds_length": 2277,
"cdna_start": 1331,
"cdna_end": null,
"cdna_length": 3712,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 49,
"exon_rank_end": null,
"exon_count": 58,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRBA",
"gene_hgnc_id": 1742,
"hgvs_c": "c.7289A>G",
"hgvs_p": "p.Tyr2430Cys",
"transcript": "NM_001440430.1",
"protein_id": "NP_001427359.1",
"transcript_support_level": null,
"aa_start": 2430,
"aa_end": null,
"aa_length": 2868,
"cds_start": 7289,
"cds_end": null,
"cds_length": 8607,
"cdna_start": 7591,
"cdna_end": null,
"cdna_length": 10196,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 49,
"exon_rank_end": null,
"exon_count": 58,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRBA",
"gene_hgnc_id": 1742,
"hgvs_c": "c.7289A>G",
"hgvs_p": "p.Tyr2430Cys",
"transcript": "NM_006726.5",
"protein_id": "NP_006717.2",
"transcript_support_level": null,
"aa_start": 2430,
"aa_end": null,
"aa_length": 2863,
"cds_start": 7289,
"cds_end": null,
"cds_length": 8592,
"cdna_start": 7763,
"cdna_end": null,
"cdna_length": 10353,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 48,
"exon_rank_end": null,
"exon_count": 57,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRBA",
"gene_hgnc_id": 1742,
"hgvs_c": "c.7256A>G",
"hgvs_p": "p.Tyr2419Cys",
"transcript": "NM_001367550.1",
"protein_id": "NP_001354479.1",
"transcript_support_level": null,
"aa_start": 2419,
"aa_end": null,
"aa_length": 2857,
"cds_start": 7256,
"cds_end": null,
"cds_length": 8574,
"cdna_start": 7730,
"cdna_end": null,
"cdna_length": 10335,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 48,
"exon_rank_end": null,
"exon_count": 57,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRBA",
"gene_hgnc_id": 1742,
"hgvs_c": "c.7256A>G",
"hgvs_p": "p.Tyr2419Cys",
"transcript": "NM_001440431.1",
"protein_id": "NP_001427360.1",
"transcript_support_level": null,
"aa_start": 2419,
"aa_end": null,
"aa_length": 2857,
"cds_start": 7256,
"cds_end": null,
"cds_length": 8574,
"cdna_start": 7558,
"cdna_end": null,
"cdna_length": 10163,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 48,
"exon_rank_end": null,
"exon_count": 57,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRBA",
"gene_hgnc_id": 1742,
"hgvs_c": "c.7256A>G",
"hgvs_p": "p.Tyr2419Cys",
"transcript": "ENST00000651695.2",
"protein_id": "ENSP00000498254.2",
"transcript_support_level": null,
"aa_start": 2419,
"aa_end": null,
"aa_length": 2857,
"cds_start": 7256,
"cds_end": null,
"cds_length": 8574,
"cdna_start": 7507,
"cdna_end": null,
"cdna_length": 9880,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 48,
"exon_rank_end": null,
"exon_count": 57,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRBA",
"gene_hgnc_id": 1742,
"hgvs_c": "c.7256A>G",
"hgvs_p": "p.Tyr2419Cys",
"transcript": "NM_001199282.3",
"protein_id": "NP_001186211.2",
"transcript_support_level": null,
"aa_start": 2419,
"aa_end": null,
"aa_length": 2851,
"cds_start": 7256,
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"cds_length": 8556,
"cdna_start": 7558,
"cdna_end": null,
"cdna_length": 10145,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 48,
"exon_rank_end": null,
"exon_count": 51,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRBA",
"gene_hgnc_id": 1742,
"hgvs_c": "c.7256A>G",
"hgvs_p": "p.Tyr2419Cys",
"transcript": "ENST00000507224.5",
"protein_id": "ENSP00000422180.1",
"transcript_support_level": 5,
"aa_start": 2419,
"aa_end": null,
"aa_length": 2575,
"cds_start": 7256,
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"cds_length": 7728,
"cdna_start": 7551,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRBA",
"gene_hgnc_id": 1742,
"hgvs_c": "c.1607A>G",
"hgvs_p": "p.Tyr536Cys",
"transcript": "ENST00000697128.1",
"protein_id": "ENSP00000513126.1",
"transcript_support_level": null,
"aa_start": 536,
"aa_end": null,
"aa_length": 968,
"cds_start": 1607,
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"cdna_start": 1608,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
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"gene_symbol": "LRBA",
"gene_hgnc_id": 1742,
"hgvs_c": "c.959A>G",
"hgvs_p": "p.Tyr320Cys",
"transcript": "NM_001440432.1",
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"cdna_start": 1376,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRBA",
"gene_hgnc_id": 1742,
"hgvs_c": "c.953A>G",
"hgvs_p": "p.Tyr318Cys",
"transcript": "NM_001440433.1",
"protein_id": "NP_001427362.1",
"transcript_support_level": null,
"aa_start": 318,
"aa_end": null,
"aa_length": 756,
"cds_start": 953,
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"cdna_start": 994,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRBA",
"gene_hgnc_id": 1742,
"hgvs_c": "c.929A>G",
"hgvs_p": "p.Tyr310Cys",
"transcript": "ENST00000697127.1",
"protein_id": "ENSP00000513124.1",
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"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRBA",
"gene_hgnc_id": 1742,
"hgvs_c": "c.734A>G",
"hgvs_p": "p.Tyr245Cys",
"transcript": "ENST00000648878.1",
"protein_id": "ENSP00000497002.1",
"transcript_support_level": null,
"aa_start": 245,
"aa_end": null,
"aa_length": 686,
"cds_start": 734,
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"cdna_start": 734,
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"cdna_length": 3120,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRBA",
"gene_hgnc_id": 1742,
"hgvs_c": "c.182A>G",
"hgvs_p": "p.Tyr61Cys",
"transcript": "ENST00000648626.1",
"protein_id": "ENSP00000513125.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 499,
"cds_start": 182,
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"cdna_start": 1706,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 49,
"exon_rank_end": null,
"exon_count": 58,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRBA",
"gene_hgnc_id": 1742,
"hgvs_c": "c.7289A>G",
"hgvs_p": "p.Tyr2430Cys",
"transcript": "XM_005263373.4",
"protein_id": "XP_005263430.1",
"transcript_support_level": null,
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"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 49,
"exon_rank_end": null,
"exon_count": 58,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRBA",
"gene_hgnc_id": 1742,
"hgvs_c": "c.7289A>G",
"hgvs_p": "p.Tyr2430Cys",
"transcript": "XM_011532434.3",
"protein_id": "XP_011530736.1",
"transcript_support_level": null,
"aa_start": 2430,
"aa_end": null,
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"cds_start": 7289,
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"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
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"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 48,
"exon_rank_end": null,
"exon_count": 57,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRBA",
"gene_hgnc_id": 1742,
"hgvs_c": "c.7256A>G",
"hgvs_p": "p.Tyr2419Cys",
"transcript": "XM_047416462.1",
"protein_id": "XP_047272418.1",
"transcript_support_level": null,
"aa_start": 2419,
"aa_end": null,
"aa_length": 2852,
"cds_start": 7256,
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"cdna_start": 7730,
"cdna_end": null,
"cdna_length": 10320,
"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": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRBA",
"gene_hgnc_id": 1742,
"hgvs_c": "n.*244A>G",
"hgvs_p": null,
"transcript": "ENST00000648823.1",
"protein_id": "ENSP00000498057.1",
"transcript_support_level": null,
"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": 3346,
"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": 48,
"exon_rank_end": null,
"exon_count": 57,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRBA",
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{
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{
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},
{
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"intron_variant"
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}
],
"gene_symbol": "LRBA",
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"gnomad_genomes_af": 0.00000657237,
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"gnomad_genomes_ac": 1,
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"computational_prediction_selected": "Pathogenic",
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"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"revel_prediction": "Pathogenic",
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"bayesdelnoaf_score": 0.35,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 8.017,
"phylop100way_prediction": "Pathogenic",
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"spliceai_max_prediction": "Benign",
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"acmg_score": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
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"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000651943.2",
"gene_symbol": "LRBA",
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"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
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"hgvs_p": "p.Tyr2419Cys"
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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
}