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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: 2-69804572-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=69804572&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 69804572,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001153.5",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANXA4",
"gene_hgnc_id": 542,
"hgvs_c": "c.137G>T",
"hgvs_p": "p.Arg46Leu",
"transcript": "NM_001153.5",
"protein_id": "NP_001144.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 321,
"cds_start": 137,
"cds_end": null,
"cds_length": 966,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000394295.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001153.5"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANXA4",
"gene_hgnc_id": 542,
"hgvs_c": "c.137G>T",
"hgvs_p": "p.Arg46Leu",
"transcript": "ENST00000394295.6",
"protein_id": "ENSP00000377833.4",
"transcript_support_level": 1,
"aa_start": 46,
"aa_end": null,
"aa_length": 321,
"cds_start": 137,
"cds_end": null,
"cds_length": 966,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001153.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000394295.6"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANXA4",
"gene_hgnc_id": 542,
"hgvs_c": "c.137G>T",
"hgvs_p": "p.Arg46Leu",
"transcript": "ENST00000409920.5",
"protein_id": "ENSP00000386756.1",
"transcript_support_level": 1,
"aa_start": 46,
"aa_end": null,
"aa_length": 299,
"cds_start": 137,
"cds_end": null,
"cds_length": 900,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409920.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANXA4",
"gene_hgnc_id": 542,
"hgvs_c": "n.264G>T",
"hgvs_p": null,
"transcript": "ENST00000477632.5",
"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": "retained_intron",
"feature": "ENST00000477632.5"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANXA4",
"gene_hgnc_id": 542,
"hgvs_c": "c.224G>T",
"hgvs_p": "p.Arg75Leu",
"transcript": "ENST00000892573.1",
"protein_id": "ENSP00000562632.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 350,
"cds_start": 224,
"cds_end": null,
"cds_length": 1053,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892573.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANXA4",
"gene_hgnc_id": 542,
"hgvs_c": "c.200G>T",
"hgvs_p": "p.Arg67Leu",
"transcript": "ENST00000892559.1",
"protein_id": "ENSP00000562618.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 342,
"cds_start": 200,
"cds_end": null,
"cds_length": 1029,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892559.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANXA4",
"gene_hgnc_id": 542,
"hgvs_c": "c.137G>T",
"hgvs_p": "p.Arg46Leu",
"transcript": "ENST00000892575.1",
"protein_id": "ENSP00000562634.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 339,
"cds_start": 137,
"cds_end": null,
"cds_length": 1020,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892575.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANXA4",
"gene_hgnc_id": 542,
"hgvs_c": "c.155G>T",
"hgvs_p": "p.Arg52Leu",
"transcript": "ENST00000955420.1",
"protein_id": "ENSP00000625479.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 327,
"cds_start": 155,
"cds_end": null,
"cds_length": 984,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955420.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANXA4",
"gene_hgnc_id": 542,
"hgvs_c": "c.137G>T",
"hgvs_p": "p.Arg46Leu",
"transcript": "NM_001320698.2",
"protein_id": "NP_001307627.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 321,
"cds_start": 137,
"cds_end": null,
"cds_length": 966,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320698.2"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANXA4",
"gene_hgnc_id": 542,
"hgvs_c": "c.137G>T",
"hgvs_p": "p.Arg46Leu",
"transcript": "NM_001365496.2",
"protein_id": "NP_001352425.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 321,
"cds_start": 137,
"cds_end": null,
"cds_length": 966,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001365496.2"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANXA4",
"gene_hgnc_id": 542,
"hgvs_c": "c.137G>T",
"hgvs_p": "p.Arg46Leu",
"transcript": "ENST00000892545.1",
"protein_id": "ENSP00000562604.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 321,
"cds_start": 137,
"cds_end": null,
"cds_length": 966,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892545.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANXA4",
"gene_hgnc_id": 542,
"hgvs_c": "c.137G>T",
"hgvs_p": "p.Arg46Leu",
"transcript": "ENST00000892547.1",
"protein_id": "ENSP00000562606.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 321,
"cds_start": 137,
"cds_end": null,
"cds_length": 966,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892547.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANXA4",
"gene_hgnc_id": 542,
"hgvs_c": "c.137G>T",
"hgvs_p": "p.Arg46Leu",
"transcript": "ENST00000892549.1",
"protein_id": "ENSP00000562608.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 321,
"cds_start": 137,
"cds_end": null,
"cds_length": 966,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892549.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANXA4",
"gene_hgnc_id": 542,
"hgvs_c": "c.137G>T",
"hgvs_p": "p.Arg46Leu",
"transcript": "ENST00000892551.1",
"protein_id": "ENSP00000562610.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 321,
"cds_start": 137,
"cds_end": null,
"cds_length": 966,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892551.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANXA4",
"gene_hgnc_id": 542,
"hgvs_c": "c.137G>T",
"hgvs_p": "p.Arg46Leu",
"transcript": "ENST00000892553.1",
"protein_id": "ENSP00000562612.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 321,
"cds_start": 137,
"cds_end": null,
"cds_length": 966,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892553.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANXA4",
"gene_hgnc_id": 542,
"hgvs_c": "c.137G>T",
"hgvs_p": "p.Arg46Leu",
"transcript": "ENST00000892555.1",
"protein_id": "ENSP00000562614.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 321,
"cds_start": 137,
"cds_end": null,
"cds_length": 966,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892555.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANXA4",
"gene_hgnc_id": 542,
"hgvs_c": "c.137G>T",
"hgvs_p": "p.Arg46Leu",
"transcript": "ENST00000892557.1",
"protein_id": "ENSP00000562616.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 321,
"cds_start": 137,
"cds_end": null,
"cds_length": 966,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892557.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANXA4",
"gene_hgnc_id": 542,
"hgvs_c": "c.137G>T",
"hgvs_p": "p.Arg46Leu",
"transcript": "ENST00000892561.1",
"protein_id": "ENSP00000562620.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 321,
"cds_start": 137,
"cds_end": null,
"cds_length": 966,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892561.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANXA4",
"gene_hgnc_id": 542,
"hgvs_c": "c.137G>T",
"hgvs_p": "p.Arg46Leu",
"transcript": "ENST00000892562.1",
"protein_id": "ENSP00000562621.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 321,
"cds_start": 137,
"cds_end": null,
"cds_length": 966,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892562.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANXA4",
"gene_hgnc_id": 542,
"hgvs_c": "c.137G>T",
"hgvs_p": "p.Arg46Leu",
"transcript": "ENST00000892563.1",
"protein_id": "ENSP00000562622.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 321,
"cds_start": 137,
"cds_end": null,
"cds_length": 966,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892563.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANXA4",
"gene_hgnc_id": 542,
"hgvs_c": "c.137G>T",
"hgvs_p": "p.Arg46Leu",
"transcript": "ENST00000892564.1",
"protein_id": "ENSP00000562623.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 321,
"cds_start": 137,
"cds_end": null,
"cds_length": 966,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892564.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANXA4",
"gene_hgnc_id": 542,
"hgvs_c": "c.137G>T",
"hgvs_p": "p.Arg46Leu",
"transcript": "ENST00000892565.1",
"protein_id": "ENSP00000562624.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 321,
"cds_start": 137,
"cds_end": null,
"cds_length": 966,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892565.1"
},
{
"aa_ref": "R",
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{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
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],
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"biotype": "pseudogene",
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{
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"protein_coding": false,
"strand": false,
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],
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"gene_symbol": "SMANTIS",
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"biotype": "pseudogene",
"feature": "ENST00000825640.1"
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],
"gene_symbol": "ANXA4",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84181e-7,
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"gnomad_exomes_ac": 1,
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"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.4777573049068451,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.284,
"revel_prediction": "Benign",
"alphamissense_score": 0.9154,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.03,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 4.269,
"phylop100way_prediction": "Uncertain_significance",
"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": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001153.5",
"gene_symbol": "ANXA4",
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"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
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"hgvs_p": "p.Arg46Leu"
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{
"score": 2,
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"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000825611.1",
"gene_symbol": "SMANTIS",
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"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.65C>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
}