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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: 15-88255577-C-CA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=88255577&ref=C&alt=CA&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 88255577,
"ref": "C",
"alt": "CA",
"effect": "intron_variant",
"transcript": "NM_001012338.3",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "NTRK3",
"gene_hgnc_id": 8033,
"hgvs_c": "c.248+328dupT",
"hgvs_p": null,
"transcript": "NM_001012338.3",
"protein_id": "NP_001012338.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 839,
"cds_start": null,
"cds_end": null,
"cds_length": 2520,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000629765.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001012338.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "NTRK3",
"gene_hgnc_id": 8033,
"hgvs_c": "c.248+328_248+329insT",
"hgvs_p": null,
"transcript": "ENST00000629765.3",
"protein_id": "ENSP00000485864.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 839,
"cds_start": null,
"cds_end": null,
"cds_length": 2520,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001012338.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000629765.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NTRK3",
"gene_hgnc_id": 8033,
"hgvs_c": "c.248+328_248+329insT",
"hgvs_p": null,
"transcript": "ENST00000557856.5",
"protein_id": "ENSP00000453959.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 817,
"cds_start": null,
"cds_end": null,
"cds_length": 2454,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000557856.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NTRK3",
"gene_hgnc_id": 8033,
"hgvs_c": "c.248+328_248+329insT",
"hgvs_p": null,
"transcript": "ENST00000558676.5",
"protein_id": "ENSP00000453511.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 705,
"cds_start": null,
"cds_end": null,
"cds_length": 2118,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000558676.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "NTRK3",
"gene_hgnc_id": 8033,
"hgvs_c": "c.248+328_248+329insT",
"hgvs_p": null,
"transcript": "ENST00000317501.9",
"protein_id": "ENSP00000318328.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 612,
"cds_start": null,
"cds_end": null,
"cds_length": 1839,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000317501.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NTRK3",
"gene_hgnc_id": 8033,
"hgvs_c": "c.248+328_248+329insT",
"hgvs_p": null,
"transcript": "ENST00000889753.1",
"protein_id": "ENSP00000559812.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 870,
"cds_start": null,
"cds_end": null,
"cds_length": 2613,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889753.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NTRK3",
"gene_hgnc_id": 8033,
"hgvs_c": "c.248+328_248+329insT",
"hgvs_p": null,
"transcript": "ENST00000626019.2",
"protein_id": "ENSP00000486784.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 864,
"cds_start": null,
"cds_end": null,
"cds_length": 2595,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000626019.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NTRK3",
"gene_hgnc_id": 8033,
"hgvs_c": "c.248+328_248+329insT",
"hgvs_p": null,
"transcript": "ENST00000889752.1",
"protein_id": "ENSP00000559811.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 842,
"cds_start": null,
"cds_end": null,
"cds_length": 2529,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889752.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NTRK3",
"gene_hgnc_id": 8033,
"hgvs_c": "c.248+328dupT",
"hgvs_p": null,
"transcript": "NM_001375810.1",
"protein_id": "NP_001362739.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 839,
"cds_start": null,
"cds_end": null,
"cds_length": 2520,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375810.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "NTRK3",
"gene_hgnc_id": 8033,
"hgvs_c": "c.248+328_248+329insT",
"hgvs_p": null,
"transcript": "ENST00000695462.1",
"protein_id": "ENSP00000511942.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 839,
"cds_start": null,
"cds_end": null,
"cds_length": 2520,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000695462.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NTRK3",
"gene_hgnc_id": 8033,
"hgvs_c": "c.248+328_248+329insT",
"hgvs_p": null,
"transcript": "ENST00000889747.1",
"protein_id": "ENSP00000559806.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 839,
"cds_start": null,
"cds_end": null,
"cds_length": 2520,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889747.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "NTRK3",
"gene_hgnc_id": 8033,
"hgvs_c": "c.248+328_248+329insT",
"hgvs_p": null,
"transcript": "ENST00000889748.1",
"protein_id": "ENSP00000559807.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 839,
"cds_start": null,
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"cds_length": 2520,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889748.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "NTRK3",
"gene_hgnc_id": 8033,
"hgvs_c": "c.248+328_248+329insT",
"hgvs_p": null,
"transcript": "ENST00000357724.6",
"protein_id": "ENSP00000350356.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 831,
"cds_start": null,
"cds_end": null,
"cds_length": 2496,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000357724.6"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 18,
"intron_rank": 2,
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"gene_symbol": "NTRK3",
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"hgvs_c": "c.248+328_248+329insT",
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"transcript": "ENST00000889749.1",
"protein_id": "ENSP00000559808.1",
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889749.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NTRK3",
"gene_hgnc_id": 8033,
"hgvs_c": "c.248+328dupT",
"hgvs_p": null,
"transcript": "NM_001375811.1",
"protein_id": "NP_001362740.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 825,
"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_001375811.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "NTRK3",
"gene_hgnc_id": 8033,
"hgvs_c": "c.248+328dupT",
"hgvs_p": null,
"transcript": "NM_002530.4",
"protein_id": "NP_002521.2",
"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,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002530.4"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "NTRK3",
"gene_hgnc_id": 8033,
"hgvs_c": "c.248+328_248+329insT",
"hgvs_p": null,
"transcript": "ENST00000394480.6",
"protein_id": "ENSP00000377990.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 825,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000394480.6"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "NTRK3",
"gene_hgnc_id": 8033,
"hgvs_c": "c.248+328_248+329insT",
"hgvs_p": null,
"transcript": "ENST00000889745.1",
"protein_id": "ENSP00000559804.1",
"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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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889745.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 19,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "NTRK3",
"gene_hgnc_id": 8033,
"hgvs_c": "c.248+328_248+329insT",
"hgvs_p": null,
"transcript": "ENST00000889746.1",
"protein_id": "ENSP00000559805.1",
"transcript_support_level": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889746.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NTRK3",
"gene_hgnc_id": 8033,
"hgvs_c": "c.248+328_248+329insT",
"hgvs_p": null,
"transcript": "ENST00000889750.1",
"protein_id": "ENSP00000559809.1",
"transcript_support_level": null,
"aa_start": null,
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"biotype": "protein_coding",
"feature": "ENST00000889750.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "NTRK3",
"gene_hgnc_id": 8033,
"hgvs_c": "c.248+328_248+329insT",
"hgvs_p": null,
"transcript": "ENST00000927121.1",
"protein_id": "ENSP00000597180.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 825,
"cds_start": null,
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"cds_length": 2478,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927121.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "NTRK3",
"gene_hgnc_id": 8033,
"hgvs_c": "c.248+328_248+329insT",
"hgvs_p": null,
"transcript": "ENST00000953260.1",
"protein_id": "ENSP00000623319.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 825,
"cds_start": null,
"cds_end": null,
"cds_length": 2478,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953260.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
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{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
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],
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"exon_count": 4,
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{
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"protein_coding": false,
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"exon_count": 4,
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{
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],
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"transcript": "XR_001751292.3",
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{
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],
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{
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"intron_variant"
],
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"biotype": "pseudogene",
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],
"gene_symbol": "NTRK3",
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"dbsnp": "rs142609804",
"frequency_reference_population": 0.08144854,
"hom_count_reference_population": 633,
"allele_count_reference_population": 12215,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.0814485,
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"gnomad_genomes_ac": 12215,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 633,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 0.493,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"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": -10,
"acmg_classification": "Benign",
"acmg_criteria": "BP6_Moderate,BA1",
"acmg_by_gene": [
{
"score": -10,
"benign_score": 10,
"pathogenic_score": 0,
"criteria": [
"BP6_Moderate",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_001012338.3",
"gene_symbol": "NTRK3",
"hgnc_id": 8033,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.248+328dupT",
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},
{
"score": -10,
"benign_score": 10,
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"criteria": [
"BP6_Moderate",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000569588.1",
"gene_symbol": "NTRK3-AS1",
"hgnc_id": 27532,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.749+2099_749+2100insA",
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}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "B:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}