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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: 8-22404541-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=22404541&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 22404541,
"ref": "A",
"alt": "G",
"effect": "intron_variant",
"transcript": "NM_001351657.2",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SLC39A14",
"gene_hgnc_id": 20858,
"hgvs_c": "c.-15-155A>G",
"hgvs_p": null,
"transcript": "NM_001128431.4",
"protein_id": "NP_001121903.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 492,
"cds_start": null,
"cds_end": null,
"cds_length": 1479,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4663,
"mane_select": "ENST00000381237.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001128431.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SLC39A14",
"gene_hgnc_id": 20858,
"hgvs_c": "c.-15-155A>G",
"hgvs_p": null,
"transcript": "NM_015359.6",
"protein_id": "NP_056174.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 492,
"cds_start": null,
"cds_end": null,
"cds_length": 1479,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4663,
"mane_select": null,
"mane_plus": "ENST00000359741.10",
"biotype": "protein_coding",
"feature": "NM_015359.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SLC39A14",
"gene_hgnc_id": 20858,
"hgvs_c": "c.-15-155A>G",
"hgvs_p": null,
"transcript": "ENST00000359741.10",
"protein_id": "ENSP00000352779.5",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 492,
"cds_start": null,
"cds_end": null,
"cds_length": 1479,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4663,
"mane_select": null,
"mane_plus": "NM_015359.6",
"biotype": "protein_coding",
"feature": "ENST00000359741.10"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SLC39A14",
"gene_hgnc_id": 20858,
"hgvs_c": "c.-15-155A>G",
"hgvs_p": null,
"transcript": "ENST00000381237.6",
"protein_id": "ENSP00000370635.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 492,
"cds_start": null,
"cds_end": null,
"cds_length": 1479,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4663,
"mane_select": "NM_001128431.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000381237.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SLC39A14",
"gene_hgnc_id": 20858,
"hgvs_c": "c.-15-155A>G",
"hgvs_p": null,
"transcript": "ENST00000240095.10",
"protein_id": "ENSP00000240095.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 481,
"cds_start": null,
"cds_end": null,
"cds_length": 1446,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1708,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000240095.10"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC39A14",
"gene_hgnc_id": 20858,
"hgvs_c": "c.-170A>G",
"hgvs_p": null,
"transcript": "ENST00000517552.1",
"protein_id": "ENSP00000430564.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 126,
"cds_start": null,
"cds_end": null,
"cds_length": 382,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 576,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000517552.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SLC39A14",
"gene_hgnc_id": 20858,
"hgvs_c": "c.-15-155A>G",
"hgvs_p": null,
"transcript": "ENST00000851588.1",
"protein_id": "ENSP00000521647.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 522,
"cds_start": null,
"cds_end": null,
"cds_length": 1569,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4694,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851588.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SLC39A14",
"gene_hgnc_id": 20858,
"hgvs_c": "c.-15-155A>G",
"hgvs_p": null,
"transcript": "ENST00000851596.1",
"protein_id": "ENSP00000521655.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 515,
"cds_start": null,
"cds_end": null,
"cds_length": 1548,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4665,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851596.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SLC39A14",
"gene_hgnc_id": 20858,
"hgvs_c": "c.16-155A>G",
"hgvs_p": null,
"transcript": "NM_001351657.2",
"protein_id": "NP_001338586.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 502,
"cds_start": null,
"cds_end": null,
"cds_length": 1509,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4960,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351657.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SLC39A14",
"gene_hgnc_id": 20858,
"hgvs_c": "c.16-155A>G",
"hgvs_p": null,
"transcript": "NM_001351658.2",
"protein_id": "NP_001338587.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 502,
"cds_start": null,
"cds_end": null,
"cds_length": 1509,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4842,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351658.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SLC39A14",
"gene_hgnc_id": 20858,
"hgvs_c": "c.16-155A>G",
"hgvs_p": null,
"transcript": "NM_001351659.2",
"protein_id": "NP_001338588.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 502,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351659.2"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SLC39A14",
"gene_hgnc_id": 20858,
"hgvs_c": "c.-15-155A>G",
"hgvs_p": null,
"transcript": "ENST00000851578.1",
"protein_id": "ENSP00000521637.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 501,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851578.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SLC39A14",
"gene_hgnc_id": 20858,
"hgvs_c": "c.-15-155A>G",
"hgvs_p": null,
"transcript": "ENST00000851587.1",
"protein_id": "ENSP00000521646.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000851587.1"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 2,
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"gene_symbol": "SLC39A14",
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"hgvs_c": "c.-15-155A>G",
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"transcript": "ENST00000851590.1",
"protein_id": "ENSP00000521649.1",
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"biotype": "protein_coding",
"feature": "ENST00000851590.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SLC39A14",
"gene_hgnc_id": 20858,
"hgvs_c": "c.-15-155A>G",
"hgvs_p": null,
"transcript": "ENST00000851617.1",
"protein_id": "ENSP00000521676.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"cds_start": null,
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"cdna_start": null,
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"biotype": "protein_coding",
"feature": "ENST00000851617.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 10,
"intron_rank": 2,
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"gene_symbol": "SLC39A14",
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"hgvs_c": "c.-15-155A>G",
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"transcript": "ENST00000941289.1",
"protein_id": "ENSP00000611348.1",
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000941289.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SLC39A14",
"gene_hgnc_id": 20858,
"hgvs_c": "c.-15-155A>G",
"hgvs_p": null,
"transcript": "NM_001135153.3",
"protein_id": "NP_001128625.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "NM_001135153.3"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SLC39A14",
"gene_hgnc_id": 20858,
"hgvs_c": "c.-15-155A>G",
"hgvs_p": null,
"transcript": "NM_001351655.2",
"protein_id": "NP_001338584.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"biotype": "protein_coding",
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},
{
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"strand": true,
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"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SLC39A14",
"gene_hgnc_id": 20858,
"hgvs_c": "c.-15-155A>G",
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"transcript": "NM_001351656.2",
"protein_id": "NP_001338585.1",
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "NM_001351656.2"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 9,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SLC39A14",
"gene_hgnc_id": 20858,
"hgvs_c": "c.-15-155A>G",
"hgvs_p": null,
"transcript": "NM_001351660.2",
"protein_id": "NP_001338589.1",
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"biotype": "protein_coding",
"feature": "NM_001351660.2"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 9,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SLC39A14",
"gene_hgnc_id": 20858,
"hgvs_c": "c.-15-155A>G",
"hgvs_p": null,
"transcript": "ENST00000289952.9",
"protein_id": "ENSP00000289952.5",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 492,
"cds_start": null,
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"cdna_start": null,
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"cdna_length": 2137,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000289952.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SLC39A14",
"gene_hgnc_id": 20858,
"hgvs_c": "c.-15-155A>G",
"hgvs_p": null,
"transcript": "ENST00000851569.1",
"protein_id": "ENSP00000521628.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 492,
"cds_start": null,
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"cdna_start": null,
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"cdna_length": 4800,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851569.1"
},
{
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"canonical": false,
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{
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{
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{
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{
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"transcript": "XM_047421655.1",
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],
"gene_symbol": "SLC39A14",
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"dbsnp": "rs76009801",
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"hom_count_reference_population": 324,
"allele_count_reference_population": 6604,
"gnomad_exomes_af": 0.00377964,
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"computational_score_selected": -0.8999999761581421,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.9,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.352,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_001351657.2",
"gene_symbol": "SLC39A14",
"hgnc_id": 20858,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.16-155A>G",
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}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}