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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: 3-141443004-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=141443004&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 141443004,
"ref": "A",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001080412.3",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB38",
"gene_hgnc_id": 26636,
"hgvs_c": "c.616A>T",
"hgvs_p": "p.Thr206Ser",
"transcript": "NM_001376113.1",
"protein_id": "NP_001363042.1",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 1195,
"cds_start": 616,
"cds_end": null,
"cds_length": 3588,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000321464.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376113.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB38",
"gene_hgnc_id": 26636,
"hgvs_c": "c.616A>T",
"hgvs_p": "p.Thr206Ser",
"transcript": "ENST00000321464.7",
"protein_id": "ENSP00000372635.5",
"transcript_support_level": 6,
"aa_start": 206,
"aa_end": null,
"aa_length": 1195,
"cds_start": 616,
"cds_end": null,
"cds_length": 3588,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001376113.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000321464.7"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB38",
"gene_hgnc_id": 26636,
"hgvs_c": "c.616A>T",
"hgvs_p": "p.Thr206Ser",
"transcript": "ENST00000509883.5",
"protein_id": "ENSP00000424254.1",
"transcript_support_level": 1,
"aa_start": 206,
"aa_end": null,
"aa_length": 770,
"cds_start": 616,
"cds_end": null,
"cds_length": 2313,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000509883.5"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB38",
"gene_hgnc_id": 26636,
"hgvs_c": "c.616A>T",
"hgvs_p": "p.Thr206Ser",
"transcript": "NM_001080412.3",
"protein_id": "NP_001073881.2",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 1195,
"cds_start": 616,
"cds_end": null,
"cds_length": 3588,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001080412.3"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB38",
"gene_hgnc_id": 26636,
"hgvs_c": "c.616A>T",
"hgvs_p": "p.Thr206Ser",
"transcript": "NM_001350099.2",
"protein_id": "NP_001337028.1",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 1195,
"cds_start": 616,
"cds_end": null,
"cds_length": 3588,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350099.2"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB38",
"gene_hgnc_id": 26636,
"hgvs_c": "c.616A>T",
"hgvs_p": "p.Thr206Ser",
"transcript": "NM_001350100.2",
"protein_id": "NP_001337029.1",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 1195,
"cds_start": 616,
"cds_end": null,
"cds_length": 3588,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350100.2"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB38",
"gene_hgnc_id": 26636,
"hgvs_c": "c.616A>T",
"hgvs_p": "p.Thr206Ser",
"transcript": "NM_001376112.1",
"protein_id": "NP_001363041.1",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 1195,
"cds_start": 616,
"cds_end": null,
"cds_length": 3588,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376112.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB38",
"gene_hgnc_id": 26636,
"hgvs_c": "c.616A>T",
"hgvs_p": "p.Thr206Ser",
"transcript": "NM_001376114.1",
"protein_id": "NP_001363043.1",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 1195,
"cds_start": 616,
"cds_end": null,
"cds_length": 3588,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376114.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB38",
"gene_hgnc_id": 26636,
"hgvs_c": "c.616A>T",
"hgvs_p": "p.Thr206Ser",
"transcript": "NM_001376115.1",
"protein_id": "NP_001363044.1",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 1195,
"cds_start": 616,
"cds_end": null,
"cds_length": 3588,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376115.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB38",
"gene_hgnc_id": 26636,
"hgvs_c": "c.616A>T",
"hgvs_p": "p.Thr206Ser",
"transcript": "NM_001376116.1",
"protein_id": "NP_001363045.1",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 1195,
"cds_start": 616,
"cds_end": null,
"cds_length": 3588,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376116.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB38",
"gene_hgnc_id": 26636,
"hgvs_c": "c.616A>T",
"hgvs_p": "p.Thr206Ser",
"transcript": "NM_001376117.1",
"protein_id": "NP_001363046.1",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 1195,
"cds_start": 616,
"cds_end": null,
"cds_length": 3588,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376117.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB38",
"gene_hgnc_id": 26636,
"hgvs_c": "c.616A>T",
"hgvs_p": "p.Thr206Ser",
"transcript": "NM_001376118.1",
"protein_id": "NP_001363047.1",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 1195,
"cds_start": 616,
"cds_end": null,
"cds_length": 3588,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376118.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB38",
"gene_hgnc_id": 26636,
"hgvs_c": "c.616A>T",
"hgvs_p": "p.Thr206Ser",
"transcript": "NM_001376119.1",
"protein_id": "NP_001363048.1",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 1195,
"cds_start": 616,
"cds_end": null,
"cds_length": 3588,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376119.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB38",
"gene_hgnc_id": 26636,
"hgvs_c": "c.616A>T",
"hgvs_p": "p.Thr206Ser",
"transcript": "NM_001376120.1",
"protein_id": "NP_001363049.1",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 1195,
"cds_start": 616,
"cds_end": null,
"cds_length": 3588,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376120.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB38",
"gene_hgnc_id": 26636,
"hgvs_c": "c.616A>T",
"hgvs_p": "p.Thr206Ser",
"transcript": "NM_001376121.1",
"protein_id": "NP_001363050.1",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 1195,
"cds_start": 616,
"cds_end": null,
"cds_length": 3588,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376121.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB38",
"gene_hgnc_id": 26636,
"hgvs_c": "c.616A>T",
"hgvs_p": "p.Thr206Ser",
"transcript": "NM_001376122.1",
"protein_id": "NP_001363051.1",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 1195,
"cds_start": 616,
"cds_end": null,
"cds_length": 3588,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376122.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB38",
"gene_hgnc_id": 26636,
"hgvs_c": "c.616A>T",
"hgvs_p": "p.Thr206Ser",
"transcript": "NM_001376123.1",
"protein_id": "NP_001363052.1",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 1195,
"cds_start": 616,
"cds_end": null,
"cds_length": 3588,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376123.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB38",
"gene_hgnc_id": 26636,
"hgvs_c": "c.616A>T",
"hgvs_p": "p.Thr206Ser",
"transcript": "NM_001376124.1",
"protein_id": "NP_001363053.1",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 1195,
"cds_start": 616,
"cds_end": null,
"cds_length": 3588,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376124.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB38",
"gene_hgnc_id": 26636,
"hgvs_c": "c.616A>T",
"hgvs_p": "p.Thr206Ser",
"transcript": "NM_001376125.1",
"protein_id": "NP_001363054.1",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 1195,
"cds_start": 616,
"cds_end": null,
"cds_length": 3588,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376125.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB38",
"gene_hgnc_id": 26636,
"hgvs_c": "c.616A>T",
"hgvs_p": "p.Thr206Ser",
"transcript": "NM_001376126.1",
"protein_id": "NP_001363055.1",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 1195,
"cds_start": 616,
"cds_end": null,
"cds_length": 3588,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376126.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB38",
"gene_hgnc_id": 26636,
"hgvs_c": "c.616A>T",
"hgvs_p": "p.Thr206Ser",
"transcript": "NM_001376127.1",
"protein_id": "NP_001363056.1",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 1195,
"cds_start": 616,
"cds_end": null,
"cds_length": 3588,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376127.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB38",
"gene_hgnc_id": 26636,
"hgvs_c": "c.616A>T",
"hgvs_p": "p.Thr206Ser",
"transcript": "NM_001376128.1",
"protein_id": "NP_001363057.1",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 1195,
"cds_start": 616,
"cds_end": null,
"cds_length": 3588,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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},
{
"aa_ref": null,
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"canonical": false,
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"strand": true,
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"downstream_gene_variant"
],
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"exon_count": 3,
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"transcript": "ENST00000510338.5",
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}
],
"gene_symbol": "ZBTB38",
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"dbsnp": "rs769227270",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.00000656996,
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"gnomad_genomes_ac": 1,
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"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.04464566707611084,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.012,
"revel_prediction": "Benign",
"alphamissense_score": 0.0959,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.48,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.145,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
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"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_001080412.3",
"gene_symbol": "ZBTB38",
"hgnc_id": 26636,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.616A>T",
"hgvs_p": "p.Thr206Ser"
},
{
"score": -2,
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000846212.1",
"gene_symbol": "ENSG00000288585",
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"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.749-8463T>A",
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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
}