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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: 6-159779223-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=159779223&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 159779223,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_030752.3",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCP1",
"gene_hgnc_id": 11655,
"hgvs_c": "c.1493A>G",
"hgvs_p": "p.Asn498Ser",
"transcript": "NM_030752.3",
"protein_id": "NP_110379.2",
"transcript_support_level": null,
"aa_start": 498,
"aa_end": null,
"aa_length": 556,
"cds_start": 1493,
"cds_end": null,
"cds_length": 1671,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000321394.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_030752.3"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCP1",
"gene_hgnc_id": 11655,
"hgvs_c": "c.1493A>G",
"hgvs_p": "p.Asn498Ser",
"transcript": "ENST00000321394.12",
"protein_id": "ENSP00000317334.7",
"transcript_support_level": 1,
"aa_start": 498,
"aa_end": null,
"aa_length": 556,
"cds_start": 1493,
"cds_end": null,
"cds_length": 1671,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_030752.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000321394.12"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCP1",
"gene_hgnc_id": 11655,
"hgvs_c": "c.1478A>G",
"hgvs_p": "p.Asn493Ser",
"transcript": "ENST00000934596.1",
"protein_id": "ENSP00000604655.1",
"transcript_support_level": null,
"aa_start": 493,
"aa_end": null,
"aa_length": 551,
"cds_start": 1478,
"cds_end": null,
"cds_length": 1656,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934596.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCP1",
"gene_hgnc_id": 11655,
"hgvs_c": "c.1460A>G",
"hgvs_p": "p.Asn487Ser",
"transcript": "ENST00000934597.1",
"protein_id": "ENSP00000604656.1",
"transcript_support_level": null,
"aa_start": 487,
"aa_end": null,
"aa_length": 545,
"cds_start": 1460,
"cds_end": null,
"cds_length": 1638,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934597.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCP1",
"gene_hgnc_id": 11655,
"hgvs_c": "c.1193A>G",
"hgvs_p": "p.Asn398Ser",
"transcript": "ENST00000869775.1",
"protein_id": "ENSP00000539834.1",
"transcript_support_level": null,
"aa_start": 398,
"aa_end": null,
"aa_length": 456,
"cds_start": 1193,
"cds_end": null,
"cds_length": 1371,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869775.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCP1",
"gene_hgnc_id": 11655,
"hgvs_c": "c.1136A>G",
"hgvs_p": "p.Asn379Ser",
"transcript": "ENST00000869774.1",
"protein_id": "ENSP00000539833.1",
"transcript_support_level": null,
"aa_start": 379,
"aa_end": null,
"aa_length": 437,
"cds_start": 1136,
"cds_end": null,
"cds_length": 1314,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869774.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCP1",
"gene_hgnc_id": 11655,
"hgvs_c": "c.1073A>G",
"hgvs_p": "p.Asn358Ser",
"transcript": "ENST00000934598.1",
"protein_id": "ENSP00000604657.1",
"transcript_support_level": null,
"aa_start": 358,
"aa_end": null,
"aa_length": 416,
"cds_start": 1073,
"cds_end": null,
"cds_length": 1251,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934598.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCP1",
"gene_hgnc_id": 11655,
"hgvs_c": "c.1028A>G",
"hgvs_p": "p.Asn343Ser",
"transcript": "NM_001008897.2",
"protein_id": "NP_001008897.1",
"transcript_support_level": null,
"aa_start": 343,
"aa_end": null,
"aa_length": 401,
"cds_start": 1028,
"cds_end": null,
"cds_length": 1206,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001008897.2"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCP1",
"gene_hgnc_id": 11655,
"hgvs_c": "c.1028A>G",
"hgvs_p": "p.Asn343Ser",
"transcript": "ENST00000392168.6",
"protein_id": "ENSP00000376008.2",
"transcript_support_level": 5,
"aa_start": 343,
"aa_end": null,
"aa_length": 401,
"cds_start": 1028,
"cds_end": null,
"cds_length": 1206,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000392168.6"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCP1",
"gene_hgnc_id": 11655,
"hgvs_c": "c.821A>G",
"hgvs_p": "p.Asn274Ser",
"transcript": "ENST00000544255.5",
"protein_id": "ENSP00000439447.1",
"transcript_support_level": 5,
"aa_start": 274,
"aa_end": null,
"aa_length": 332,
"cds_start": 821,
"cds_end": null,
"cds_length": 999,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000544255.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCP1",
"gene_hgnc_id": 11655,
"hgvs_c": "c.*27A>G",
"hgvs_p": null,
"transcript": "ENST00000420894.6",
"protein_id": "ENSP00000390159.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 433,
"cds_start": null,
"cds_end": null,
"cds_length": 1302,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000420894.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAT2",
"gene_hgnc_id": 94,
"hgvs_c": "c.*394T>C",
"hgvs_p": null,
"transcript": "ENST00000869581.1",
"protein_id": "ENSP00000539640.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 406,
"cds_start": null,
"cds_end": null,
"cds_length": 1221,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869581.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAT2",
"gene_hgnc_id": 94,
"hgvs_c": "c.*394T>C",
"hgvs_p": null,
"transcript": "ENST00000869582.1",
"protein_id": "ENSP00000539641.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 390,
"cds_start": null,
"cds_end": null,
"cds_length": 1173,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869582.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAT2",
"gene_hgnc_id": 94,
"hgvs_c": "c.*394T>C",
"hgvs_p": null,
"transcript": "ENST00000869584.1",
"protein_id": "ENSP00000539643.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 376,
"cds_start": null,
"cds_end": null,
"cds_length": 1131,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869584.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAT2",
"gene_hgnc_id": 94,
"hgvs_c": "c.*394T>C",
"hgvs_p": null,
"transcript": "ENST00000869583.1",
"protein_id": "ENSP00000539642.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 297,
"cds_start": null,
"cds_end": null,
"cds_length": 894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869583.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAT2",
"gene_hgnc_id": 94,
"hgvs_c": "c.*394T>C",
"hgvs_p": null,
"transcript": "NM_005891.3",
"protein_id": "NP_005882.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 397,
"cds_start": null,
"cds_end": null,
"cds_length": 1194,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000367048.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005891.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAT2",
"gene_hgnc_id": 94,
"hgvs_c": "c.*394T>C",
"hgvs_p": null,
"transcript": "ENST00000367048.5",
"protein_id": "ENSP00000356015.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 397,
"cds_start": null,
"cds_end": null,
"cds_length": 1194,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005891.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000367048.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAT2",
"gene_hgnc_id": 94,
"hgvs_c": "c.*394T>C",
"hgvs_p": null,
"transcript": "NM_001303253.1",
"protein_id": "NP_001290182.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 426,
"cds_start": null,
"cds_end": null,
"cds_length": 1281,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001303253.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAT2",
"gene_hgnc_id": 94,
"hgvs_c": "c.*394T>C",
"hgvs_p": null,
"transcript": "ENST00000869587.1",
"protein_id": "ENSP00000539646.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 405,
"cds_start": null,
"cds_end": null,
"cds_length": 1218,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869587.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAT2",
"gene_hgnc_id": 94,
"hgvs_c": "c.*394T>C",
"hgvs_p": null,
"transcript": "ENST00000934470.1",
"protein_id": "ENSP00000604529.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 394,
"cds_start": null,
"cds_end": null,
"cds_length": 1185,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934470.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAT2",
"gene_hgnc_id": 94,
"hgvs_c": "c.*394T>C",
"hgvs_p": null,
"transcript": "ENST00000934473.1",
"protein_id": "ENSP00000604532.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 388,
"cds_start": null,
"cds_end": null,
"cds_length": 1167,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934473.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAT2",
"gene_hgnc_id": 94,
"hgvs_c": "c.*394T>C",
"hgvs_p": null,
"transcript": "ENST00000934471.1",
"protein_id": "ENSP00000604530.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 378,
"cds_start": null,
"cds_end": null,
"cds_length": 1137,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934471.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
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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": "ACAT2",
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"biotype": "pseudogene",
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],
"gene_symbol": "TCP1",
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"dbsnp": "rs764360045",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 18,
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"gnomad_genomes_af": 0.00000656935,
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"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
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"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.35507261753082275,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.424,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1393,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.23,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.865,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": null,
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"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": [
"BP4",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_030752.3",
"gene_symbol": "TCP1",
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"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
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},
{
"score": -1,
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"criteria": [
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],
"verdict": "Likely_benign",
"transcript": "ENST00000869581.1",
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"effects": [
"3_prime_UTR_variant"
],
"inheritance_mode": "AR,Unknown",
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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
}