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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: 14-73239789-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=73239789&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 73239789,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001365906.3",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAPLN",
"gene_hgnc_id": 19262,
"hgvs_c": "c.11T>A",
"hgvs_p": "p.Leu4His",
"transcript": "NM_001365906.3",
"protein_id": "NP_001352835.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 1278,
"cds_start": 11,
"cds_end": null,
"cds_length": 3837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000644200.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001365906.3"
},
{
"aa_ref": "L",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAPLN",
"gene_hgnc_id": 19262,
"hgvs_c": "c.11T>A",
"hgvs_p": "p.Leu4His",
"transcript": "ENST00000644200.2",
"protein_id": "ENSP00000495882.2",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 1278,
"cds_start": 11,
"cds_end": null,
"cds_length": 3837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001365906.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000644200.2"
},
{
"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": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAPLN",
"gene_hgnc_id": 19262,
"hgvs_c": "n.11T>A",
"hgvs_p": null,
"transcript": "ENST00000216658.9",
"protein_id": "ENSP00000216658.5",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000216658.9"
},
{
"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": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAPLN",
"gene_hgnc_id": 19262,
"hgvs_c": "n.11T>A",
"hgvs_p": null,
"transcript": "ENST00000555123.5",
"protein_id": "ENSP00000452455.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000555123.5"
},
{
"aa_ref": "L",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAPLN",
"gene_hgnc_id": 19262,
"hgvs_c": "c.11T>A",
"hgvs_p": "p.Leu4His",
"transcript": "ENST00000957731.1",
"protein_id": "ENSP00000627790.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 1309,
"cds_start": 11,
"cds_end": null,
"cds_length": 3930,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957731.1"
},
{
"aa_ref": "L",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAPLN",
"gene_hgnc_id": 19262,
"hgvs_c": "c.11T>A",
"hgvs_p": "p.Leu4His",
"transcript": "ENST00000911608.1",
"protein_id": "ENSP00000581667.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 1300,
"cds_start": 11,
"cds_end": null,
"cds_length": 3903,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911608.1"
},
{
"aa_ref": "L",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAPLN",
"gene_hgnc_id": 19262,
"hgvs_c": "c.11T>A",
"hgvs_p": "p.Leu4His",
"transcript": "ENST00000554301.5",
"protein_id": "ENSP00000451803.1",
"transcript_support_level": 2,
"aa_start": 4,
"aa_end": null,
"aa_length": 1278,
"cds_start": 11,
"cds_end": null,
"cds_length": 3837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000554301.5"
},
{
"aa_ref": "L",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAPLN",
"gene_hgnc_id": 19262,
"hgvs_c": "c.11T>A",
"hgvs_p": "p.Leu4His",
"transcript": "ENST00000911607.1",
"protein_id": "ENSP00000581666.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 1278,
"cds_start": 11,
"cds_end": null,
"cds_length": 3837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911607.1"
},
{
"aa_ref": "L",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAPLN",
"gene_hgnc_id": 19262,
"hgvs_c": "c.11T>A",
"hgvs_p": "p.Leu4His",
"transcript": "ENST00000957729.1",
"protein_id": "ENSP00000627788.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 1278,
"cds_start": 11,
"cds_end": null,
"cds_length": 3837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957729.1"
},
{
"aa_ref": "L",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAPLN",
"gene_hgnc_id": 19262,
"hgvs_c": "c.11T>A",
"hgvs_p": "p.Leu4His",
"transcript": "ENST00000957732.1",
"protein_id": "ENSP00000627791.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 1278,
"cds_start": 11,
"cds_end": null,
"cds_length": 3837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957732.1"
},
{
"aa_ref": "L",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAPLN",
"gene_hgnc_id": 19262,
"hgvs_c": "c.11T>A",
"hgvs_p": "p.Leu4His",
"transcript": "NM_001365907.2",
"protein_id": "NP_001352836.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 1262,
"cds_start": 11,
"cds_end": null,
"cds_length": 3789,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001365907.2"
},
{
"aa_ref": "L",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAPLN",
"gene_hgnc_id": 19262,
"hgvs_c": "c.11T>A",
"hgvs_p": "p.Leu4His",
"transcript": "ENST00000555445.5",
"protein_id": "ENSP00000451729.1",
"transcript_support_level": 2,
"aa_start": 4,
"aa_end": null,
"aa_length": 1262,
"cds_start": 11,
"cds_end": null,
"cds_length": 3789,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000555445.5"
},
{
"aa_ref": "L",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAPLN",
"gene_hgnc_id": 19262,
"hgvs_c": "c.11T>A",
"hgvs_p": "p.Leu4His",
"transcript": "NM_173462.4",
"protein_id": "NP_775733.3",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 1251,
"cds_start": 11,
"cds_end": null,
"cds_length": 3756,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_173462.4"
},
{
"aa_ref": "L",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAPLN",
"gene_hgnc_id": 19262,
"hgvs_c": "c.11T>A",
"hgvs_p": "p.Leu4His",
"transcript": "ENST00000340738.9",
"protein_id": "ENSP00000345395.5",
"transcript_support_level": 5,
"aa_start": 4,
"aa_end": null,
"aa_length": 1251,
"cds_start": 11,
"cds_end": null,
"cds_length": 3756,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000340738.9"
},
{
"aa_ref": "L",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAPLN",
"gene_hgnc_id": 19262,
"hgvs_c": "c.11T>A",
"hgvs_p": "p.Leu4His",
"transcript": "ENST00000864046.1",
"protein_id": "ENSP00000534105.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 1199,
"cds_start": 11,
"cds_end": null,
"cds_length": 3600,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864046.1"
},
{
"aa_ref": "L",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAPLN",
"gene_hgnc_id": 19262,
"hgvs_c": "c.11T>A",
"hgvs_p": "p.Leu4His",
"transcript": "ENST00000911606.1",
"protein_id": "ENSP00000581665.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 1199,
"cds_start": 11,
"cds_end": null,
"cds_length": 3600,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911606.1"
},
{
"aa_ref": "L",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAPLN",
"gene_hgnc_id": 19262,
"hgvs_c": "c.11T>A",
"hgvs_p": "p.Leu4His",
"transcript": "ENST00000957733.1",
"protein_id": "ENSP00000627792.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 1199,
"cds_start": 11,
"cds_end": null,
"cds_length": 3600,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957733.1"
},
{
"aa_ref": "L",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAPLN",
"gene_hgnc_id": 19262,
"hgvs_c": "c.11T>A",
"hgvs_p": "p.Leu4His",
"transcript": "ENST00000957730.1",
"protein_id": "ENSP00000627789.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 1079,
"cds_start": 11,
"cds_end": null,
"cds_length": 3240,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957730.1"
},
{
"aa_ref": "L",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAPLN",
"gene_hgnc_id": 19262,
"hgvs_c": "c.32T>A",
"hgvs_p": "p.Leu11His",
"transcript": "XM_047431875.1",
"protein_id": "XP_047287831.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 1285,
"cds_start": 32,
"cds_end": null,
"cds_length": 3858,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431875.1"
},
{
"aa_ref": "L",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAPLN",
"gene_hgnc_id": 19262,
"hgvs_c": "c.11T>A",
"hgvs_p": "p.Leu4His",
"transcript": "XM_011537291.4",
"protein_id": "XP_011535593.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 1278,
"cds_start": 11,
"cds_end": null,
"cds_length": 3837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011537291.4"
},
{
"aa_ref": "L",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAPLN",
"gene_hgnc_id": 19262,
"hgvs_c": "c.11T>A",
"hgvs_p": "p.Leu4His",
"transcript": "XM_011537292.4",
"protein_id": "XP_011535594.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 1278,
"cds_start": 11,
"cds_end": null,
"cds_length": 3837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011537292.4"
},
{
"aa_ref": "L",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAPLN",
"gene_hgnc_id": 19262,
"hgvs_c": "c.11T>A",
"hgvs_p": "p.Leu4His",
"transcript": "XM_047431874.1",
"protein_id": "XP_047287830.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 1199,
"cds_start": 11,
"cds_end": null,
"cds_length": 3600,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
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{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
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"non_coding_transcript_exon_variant"
],
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"gene_symbol": "PAPLN",
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"biotype": "pseudogene",
"feature": "NR_158677.2"
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{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
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"exon_count": 27,
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"gene_symbol": "PAPLN",
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"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_158678.2"
}
],
"gene_symbol": "PAPLN",
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"dbsnp": "rs1232754081",
"frequency_reference_population": 0.0000013873494,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000138735,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.23945698142051697,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.133,
"revel_prediction": "Benign",
"alphamissense_score": 0.28,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.29,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.736,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001365906.3",
"gene_symbol": "PAPLN",
"hgnc_id": 19262,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.11T>A",
"hgvs_p": "p.Leu4His"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}