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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: 4-150277860-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=150277860&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 150277860,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000651943.2",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 56,
"exon_rank_end": null,
"exon_count": 57,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRBA",
"gene_hgnc_id": 1742,
"hgvs_c": "c.8461G>T",
"hgvs_p": "p.Asp2821Tyr",
"transcript": "NM_001364905.1",
"protein_id": "NP_001351834.1",
"transcript_support_level": null,
"aa_start": 2821,
"aa_end": null,
"aa_length": 2852,
"cds_start": 8461,
"cds_end": null,
"cds_length": 8559,
"cdna_start": 8763,
"cdna_end": null,
"cdna_length": 10148,
"mane_select": "ENST00000651943.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 56,
"exon_rank_end": null,
"exon_count": 57,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRBA",
"gene_hgnc_id": 1742,
"hgvs_c": "c.8461G>T",
"hgvs_p": "p.Asp2821Tyr",
"transcript": "ENST00000651943.2",
"protein_id": "ENSP00000498582.2",
"transcript_support_level": null,
"aa_start": 2821,
"aa_end": null,
"aa_length": 2852,
"cds_start": 8461,
"cds_end": null,
"cds_length": 8559,
"cdna_start": 8763,
"cdna_end": null,
"cdna_length": 10148,
"mane_select": "NM_001364905.1",
"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": 57,
"exon_rank_end": null,
"exon_count": 58,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRBA",
"gene_hgnc_id": 1742,
"hgvs_c": "c.8494G>T",
"hgvs_p": "p.Asp2832Tyr",
"transcript": "ENST00000357115.9",
"protein_id": "ENSP00000349629.3",
"transcript_support_level": 1,
"aa_start": 2832,
"aa_end": null,
"aa_length": 2863,
"cds_start": 8494,
"cds_end": null,
"cds_length": 8592,
"cdna_start": 8968,
"cdna_end": null,
"cdna_length": 10353,
"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": 56,
"exon_rank_end": null,
"exon_count": 57,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRBA",
"gene_hgnc_id": 1742,
"hgvs_c": "c.8458G>T",
"hgvs_p": "p.Asp2820Tyr",
"transcript": "ENST00000510413.5",
"protein_id": "ENSP00000421552.1",
"transcript_support_level": 1,
"aa_start": 2820,
"aa_end": null,
"aa_length": 2851,
"cds_start": 8458,
"cds_end": null,
"cds_length": 8556,
"cdna_start": 8743,
"cdna_end": null,
"cdna_length": 10032,
"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": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRBA",
"gene_hgnc_id": 1742,
"hgvs_c": "c.2179G>T",
"hgvs_p": "p.Asp727Tyr",
"transcript": "ENST00000503716.5",
"protein_id": "ENSP00000513123.1",
"transcript_support_level": 1,
"aa_start": 727,
"aa_end": null,
"aa_length": 758,
"cds_start": 2179,
"cds_end": null,
"cds_length": 2277,
"cdna_start": 2551,
"cdna_end": null,
"cdna_length": 3712,
"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": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRBA",
"gene_hgnc_id": 1742,
"hgvs_c": "n.5131G>T",
"hgvs_p": null,
"transcript": "ENST00000515096.6",
"protein_id": null,
"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": 6292,
"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": 57,
"exon_rank_end": null,
"exon_count": 58,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRBA",
"gene_hgnc_id": 1742,
"hgvs_c": "c.8509G>T",
"hgvs_p": "p.Asp2837Tyr",
"transcript": "NM_001440430.1",
"protein_id": "NP_001427359.1",
"transcript_support_level": null,
"aa_start": 2837,
"aa_end": null,
"aa_length": 2868,
"cds_start": 8509,
"cds_end": null,
"cds_length": 8607,
"cdna_start": 8811,
"cdna_end": null,
"cdna_length": 10196,
"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": 57,
"exon_rank_end": null,
"exon_count": 58,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRBA",
"gene_hgnc_id": 1742,
"hgvs_c": "c.8494G>T",
"hgvs_p": "p.Asp2832Tyr",
"transcript": "NM_006726.5",
"protein_id": "NP_006717.2",
"transcript_support_level": null,
"aa_start": 2832,
"aa_end": null,
"aa_length": 2863,
"cds_start": 8494,
"cds_end": null,
"cds_length": 8592,
"cdna_start": 8968,
"cdna_end": null,
"cdna_length": 10353,
"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": 56,
"exon_rank_end": null,
"exon_count": 57,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRBA",
"gene_hgnc_id": 1742,
"hgvs_c": "c.8476G>T",
"hgvs_p": "p.Asp2826Tyr",
"transcript": "NM_001367550.1",
"protein_id": "NP_001354479.1",
"transcript_support_level": null,
"aa_start": 2826,
"aa_end": null,
"aa_length": 2857,
"cds_start": 8476,
"cds_end": null,
"cds_length": 8574,
"cdna_start": 8950,
"cdna_end": null,
"cdna_length": 10335,
"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": 56,
"exon_rank_end": null,
"exon_count": 57,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRBA",
"gene_hgnc_id": 1742,
"hgvs_c": "c.8476G>T",
"hgvs_p": "p.Asp2826Tyr",
"transcript": "NM_001440431.1",
"protein_id": "NP_001427360.1",
"transcript_support_level": null,
"aa_start": 2826,
"aa_end": null,
"aa_length": 2857,
"cds_start": 8476,
"cds_end": null,
"cds_length": 8574,
"cdna_start": 8778,
"cdna_end": null,
"cdna_length": 10163,
"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": 56,
"exon_rank_end": null,
"exon_count": 57,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRBA",
"gene_hgnc_id": 1742,
"hgvs_c": "c.8476G>T",
"hgvs_p": "p.Asp2826Tyr",
"transcript": "ENST00000651695.2",
"protein_id": "ENSP00000498254.2",
"transcript_support_level": null,
"aa_start": 2826,
"aa_end": null,
"aa_length": 2857,
"cds_start": 8476,
"cds_end": null,
"cds_length": 8574,
"cdna_start": 8727,
"cdna_end": null,
"cdna_length": 9880,
"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": 56,
"exon_rank_end": null,
"exon_count": 57,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRBA",
"gene_hgnc_id": 1742,
"hgvs_c": "c.8458G>T",
"hgvs_p": "p.Asp2820Tyr",
"transcript": "NM_001199282.3",
"protein_id": "NP_001186211.2",
"transcript_support_level": null,
"aa_start": 2820,
"aa_end": null,
"aa_length": 2851,
"cds_start": 8458,
"cds_end": null,
"cds_length": 8556,
"cdna_start": 8760,
"cdna_end": null,
"cdna_length": 10145,
"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": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRBA",
"gene_hgnc_id": 1742,
"hgvs_c": "c.2809G>T",
"hgvs_p": "p.Asp937Tyr",
"transcript": "ENST00000697128.1",
"protein_id": "ENSP00000513126.1",
"transcript_support_level": null,
"aa_start": 937,
"aa_end": null,
"aa_length": 968,
"cds_start": 2809,
"cds_end": null,
"cds_length": 2907,
"cdna_start": 2810,
"cdna_end": null,
"cdna_length": 3936,
"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": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRBA",
"gene_hgnc_id": 1742,
"hgvs_c": "c.2179G>T",
"hgvs_p": "p.Asp727Tyr",
"transcript": "NM_001440432.1",
"protein_id": "NP_001427361.1",
"transcript_support_level": null,
"aa_start": 727,
"aa_end": null,
"aa_length": 758,
"cds_start": 2179,
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"cds_length": 2277,
"cdna_start": 2596,
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"cdna_length": 3981,
"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": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRBA",
"gene_hgnc_id": 1742,
"hgvs_c": "c.2173G>T",
"hgvs_p": "p.Asp725Tyr",
"transcript": "NM_001440433.1",
"protein_id": "NP_001427362.1",
"transcript_support_level": null,
"aa_start": 725,
"aa_end": null,
"aa_length": 756,
"cds_start": 2173,
"cds_end": null,
"cds_length": 2271,
"cdna_start": 2214,
"cdna_end": null,
"cdna_length": 3599,
"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": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRBA",
"gene_hgnc_id": 1742,
"hgvs_c": "c.2134G>T",
"hgvs_p": "p.Asp712Tyr",
"transcript": "ENST00000697127.1",
"protein_id": "ENSP00000513124.1",
"transcript_support_level": null,
"aa_start": 712,
"aa_end": null,
"aa_length": 743,
"cds_start": 2134,
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"cdna_start": 2195,
"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": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRBA",
"gene_hgnc_id": 1742,
"hgvs_c": "c.1954G>T",
"hgvs_p": "p.Asp652Tyr",
"transcript": "ENST00000648878.1",
"protein_id": "ENSP00000497002.1",
"transcript_support_level": null,
"aa_start": 652,
"aa_end": null,
"aa_length": 686,
"cds_start": 1954,
"cds_end": null,
"cds_length": 2061,
"cdna_start": 1954,
"cdna_end": null,
"cdna_length": 3120,
"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": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRBA",
"gene_hgnc_id": 1742,
"hgvs_c": "c.1402G>T",
"hgvs_p": "p.Asp468Tyr",
"transcript": "ENST00000648626.1",
"protein_id": "ENSP00000513125.1",
"transcript_support_level": null,
"aa_start": 468,
"aa_end": null,
"aa_length": 499,
"cds_start": 1402,
"cds_end": null,
"cds_length": 1500,
"cdna_start": 2926,
"cdna_end": null,
"cdna_length": 4078,
"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": 57,
"exon_rank_end": null,
"exon_count": 58,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRBA",
"gene_hgnc_id": 1742,
"hgvs_c": "c.8509G>T",
"hgvs_p": "p.Asp2837Tyr",
"transcript": "XM_005263373.4",
"protein_id": "XP_005263430.1",
"transcript_support_level": null,
"aa_start": 2837,
"aa_end": null,
"aa_length": 2868,
"cds_start": 8509,
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"cdna_start": 8983,
"cdna_end": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 57,
"exon_rank_end": null,
"exon_count": 58,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRBA",
"gene_hgnc_id": 1742,
"hgvs_c": "c.8494G>T",
"hgvs_p": "p.Asp2832Tyr",
"transcript": "XM_011532434.3",
"protein_id": "XP_011530736.1",
"transcript_support_level": null,
"aa_start": 2832,
"aa_end": null,
"aa_length": 2863,
"cds_start": 8494,
"cds_end": null,
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"cdna_start": 8796,
"cdna_end": null,
"cdna_length": 10181,
"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": 56,
"exon_rank_end": null,
"exon_count": 57,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRBA",
"gene_hgnc_id": 1742,
"hgvs_c": "c.8461G>T",
"hgvs_p": "p.Asp2821Tyr",
"transcript": "XM_047416462.1",
"protein_id": "XP_047272418.1",
"transcript_support_level": null,
"aa_start": 2821,
"aa_end": null,
"aa_length": 2852,
"cds_start": 8461,
"cds_end": null,
"cds_length": 8559,
"cdna_start": 8935,
"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": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRBA",
"gene_hgnc_id": 1742,
"hgvs_c": "n.1077G>T",
"hgvs_p": null,
"transcript": "ENST00000510157.2",
"protein_id": null,
"transcript_support_level": 5,
"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": 1871,
"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": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRBA",
"gene_hgnc_id": 1742,
"hgvs_c": "n.*1464G>T",
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{
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{
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},
{
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],
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}
],
"gene_symbol": "LRBA",
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"dbsnp": "rs191145485",
"frequency_reference_population": 6.8411055e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84111e-7,
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"gnomad_exomes_ac": 1,
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"gnomad_exomes_homalt": 0,
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"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8402677178382874,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.372,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9245,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.1,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.821,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0,
"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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"pathogenic_score": 4,
"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.Asp2821Tyr"
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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
}