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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: 5-66162418-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=66162418&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 66162418,
"ref": "C",
"alt": "T",
"effect": "5_prime_UTR_premature_start_codon_gain_variant",
"transcript": "NM_001323534.2",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SREK1",
"gene_hgnc_id": 17882,
"hgvs_c": "c.581C>T",
"hgvs_p": "p.Thr194Met",
"transcript": "NM_001077199.3",
"protein_id": "NP_001070667.1",
"transcript_support_level": null,
"aa_start": 194,
"aa_end": null,
"aa_length": 624,
"cds_start": 581,
"cds_end": null,
"cds_length": 1875,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000334121.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001077199.3"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SREK1",
"gene_hgnc_id": 17882,
"hgvs_c": "c.581C>T",
"hgvs_p": "p.Thr194Met",
"transcript": "ENST00000334121.11",
"protein_id": "ENSP00000334538.6",
"transcript_support_level": 2,
"aa_start": 194,
"aa_end": null,
"aa_length": 624,
"cds_start": 581,
"cds_end": null,
"cds_length": 1875,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001077199.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000334121.11"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SREK1",
"gene_hgnc_id": 17882,
"hgvs_c": "c.233C>T",
"hgvs_p": "p.Thr78Met",
"transcript": "ENST00000380918.7",
"protein_id": "ENSP00000370305.3",
"transcript_support_level": 1,
"aa_start": 78,
"aa_end": null,
"aa_length": 508,
"cds_start": 233,
"cds_end": null,
"cds_length": 1527,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000380918.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SREK1",
"gene_hgnc_id": 17882,
"hgvs_c": "n.514C>T",
"hgvs_p": null,
"transcript": "ENST00000284041.7",
"protein_id": null,
"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": "pseudogene",
"feature": "ENST00000284041.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SREK1",
"gene_hgnc_id": 17882,
"hgvs_c": "n.*306C>T",
"hgvs_p": null,
"transcript": "ENST00000522912.5",
"protein_id": "ENSP00000427935.1",
"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": "ENST00000522912.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SREK1",
"gene_hgnc_id": 17882,
"hgvs_c": "n.*306C>T",
"hgvs_p": null,
"transcript": "ENST00000522912.5",
"protein_id": "ENSP00000427935.1",
"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": "ENST00000522912.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SREK1",
"gene_hgnc_id": 17882,
"hgvs_c": "c.-106C>T",
"hgvs_p": null,
"transcript": "NM_001323534.2",
"protein_id": "NP_001310463.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 359,
"cds_start": null,
"cds_end": null,
"cds_length": 1080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001323534.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SREK1",
"gene_hgnc_id": 17882,
"hgvs_c": "c.-106C>T",
"hgvs_p": null,
"transcript": "NM_001323535.2",
"protein_id": "NP_001310464.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 358,
"cds_start": null,
"cds_end": null,
"cds_length": 1077,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001323535.2"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SREK1",
"gene_hgnc_id": 17882,
"hgvs_c": "c.581C>T",
"hgvs_p": "p.Thr194Met",
"transcript": "NM_001323529.2",
"protein_id": "NP_001310458.1",
"transcript_support_level": null,
"aa_start": 194,
"aa_end": null,
"aa_length": 623,
"cds_start": 581,
"cds_end": null,
"cds_length": 1872,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001323529.2"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SREK1",
"gene_hgnc_id": 17882,
"hgvs_c": "c.581C>T",
"hgvs_p": "p.Thr194Met",
"transcript": "ENST00000868036.1",
"protein_id": "ENSP00000538095.1",
"transcript_support_level": null,
"aa_start": 194,
"aa_end": null,
"aa_length": 623,
"cds_start": 581,
"cds_end": null,
"cds_length": 1872,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868036.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SREK1",
"gene_hgnc_id": 17882,
"hgvs_c": "c.581C>T",
"hgvs_p": "p.Thr194Met",
"transcript": "ENST00000936174.1",
"protein_id": "ENSP00000606233.1",
"transcript_support_level": null,
"aa_start": 194,
"aa_end": null,
"aa_length": 623,
"cds_start": 581,
"cds_end": null,
"cds_length": 1872,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936174.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SREK1",
"gene_hgnc_id": 17882,
"hgvs_c": "c.581C>T",
"hgvs_p": "p.Thr194Met",
"transcript": "ENST00000936175.1",
"protein_id": "ENSP00000606234.1",
"transcript_support_level": null,
"aa_start": 194,
"aa_end": null,
"aa_length": 622,
"cds_start": 581,
"cds_end": null,
"cds_length": 1869,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936175.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SREK1",
"gene_hgnc_id": 17882,
"hgvs_c": "c.581C>T",
"hgvs_p": "p.Thr194Met",
"transcript": "NM_001323533.2",
"protein_id": "NP_001310462.1",
"transcript_support_level": null,
"aa_start": 194,
"aa_end": null,
"aa_length": 538,
"cds_start": 581,
"cds_end": null,
"cds_length": 1617,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001323533.2"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SREK1",
"gene_hgnc_id": 17882,
"hgvs_c": "c.233C>T",
"hgvs_p": "p.Thr78Met",
"transcript": "NM_001323527.2",
"protein_id": "NP_001310456.1",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 508,
"cds_start": 233,
"cds_end": null,
"cds_length": 1527,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001323527.2"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SREK1",
"gene_hgnc_id": 17882,
"hgvs_c": "c.233C>T",
"hgvs_p": "p.Thr78Met",
"transcript": "NM_139168.4",
"protein_id": "NP_631907.1",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 508,
"cds_start": 233,
"cds_end": null,
"cds_length": 1527,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_139168.4"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SREK1",
"gene_hgnc_id": 17882,
"hgvs_c": "c.233C>T",
"hgvs_p": "p.Thr78Met",
"transcript": "NM_001270492.2",
"protein_id": "NP_001257421.1",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 507,
"cds_start": 233,
"cds_end": null,
"cds_length": 1524,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001270492.2"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SREK1",
"gene_hgnc_id": 17882,
"hgvs_c": "c.581C>T",
"hgvs_p": "p.Thr194Met",
"transcript": "ENST00000868037.1",
"protein_id": "ENSP00000538096.1",
"transcript_support_level": null,
"aa_start": 194,
"aa_end": null,
"aa_length": 503,
"cds_start": 581,
"cds_end": null,
"cds_length": 1512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868037.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SREK1",
"gene_hgnc_id": 17882,
"hgvs_c": "c.581C>T",
"hgvs_p": "p.Thr194Met",
"transcript": "ENST00000972140.1",
"protein_id": "ENSP00000642199.1",
"transcript_support_level": null,
"aa_start": 194,
"aa_end": null,
"aa_length": 502,
"cds_start": 581,
"cds_end": null,
"cds_length": 1509,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000972140.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SREK1",
"gene_hgnc_id": 17882,
"hgvs_c": "c.581C>T",
"hgvs_p": "p.Thr194Met",
"transcript": "ENST00000972139.1",
"protein_id": "ENSP00000642198.1",
"transcript_support_level": null,
"aa_start": 194,
"aa_end": null,
"aa_length": 501,
"cds_start": 581,
"cds_end": null,
"cds_length": 1506,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000972139.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SREK1",
"gene_hgnc_id": 17882,
"hgvs_c": "c.233C>T",
"hgvs_p": "p.Thr78Met",
"transcript": "XM_011543171.4",
"protein_id": "XP_011541473.1",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 508,
"cds_start": 233,
"cds_end": null,
"cds_length": 1527,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011543171.4"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SREK1",
"gene_hgnc_id": 17882,
"hgvs_c": "c.233C>T",
"hgvs_p": "p.Thr78Met",
"transcript": "XM_047416738.1",
"protein_id": "XP_047272694.1",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 508,
"cds_start": 233,
"cds_end": null,
"cds_length": 1527,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416738.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SREK1",
"gene_hgnc_id": 17882,
"hgvs_c": "c.233C>T",
"hgvs_p": "p.Thr78Met",
"transcript": "XM_047416739.1",
"protein_id": "XP_047272695.1",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 508,
"cds_start": 233,
"cds_end": null,
"cds_length": 1527,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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{
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},
{
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],
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},
{
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{
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{
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{
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{
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],
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{
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{
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{
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{
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],
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],
"gene_symbol": "SREK1",
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"dbsnp": "rs766433476",
"frequency_reference_population": 0.000029126875,
"hom_count_reference_population": 0,
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"gnomad_exomes_af": 0.0000294213,
"gnomad_genomes_af": 0.0000262975,
"gnomad_exomes_ac": 43,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
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"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.34512680768966675,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.03999999910593033,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.292,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9473,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.02,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.394,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.04,
"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": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4,BS2",
"acmg_by_gene": [
{
"score": -5,
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"pathogenic_score": 0,
"criteria": [
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"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_001323534.2",
"gene_symbol": "SREK1",
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"effects": [
"5_prime_UTR_premature_start_codon_gain_variant"
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"inheritance_mode": "AD",
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}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}