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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: 15-87933149-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=87933149&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 87933149,
"ref": "A",
"alt": "G",
"effect": "synonymous_variant",
"transcript": "ENST00000629765.3",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NTRK3",
"gene_hgnc_id": 8033,
"hgvs_c": "c.1752T>C",
"hgvs_p": "p.Asp584Asp",
"transcript": "NM_001012338.3",
"protein_id": "NP_001012338.1",
"transcript_support_level": null,
"aa_start": 584,
"aa_end": null,
"aa_length": 839,
"cds_start": 1752,
"cds_end": null,
"cds_length": 2520,
"cdna_start": 2066,
"cdna_end": null,
"cdna_length": 20018,
"mane_select": "ENST00000629765.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NTRK3",
"gene_hgnc_id": 8033,
"hgvs_c": "c.1752T>C",
"hgvs_p": "p.Asp584Asp",
"transcript": "ENST00000629765.3",
"protein_id": "ENSP00000485864.1",
"transcript_support_level": 1,
"aa_start": 584,
"aa_end": null,
"aa_length": 839,
"cds_start": 1752,
"cds_end": null,
"cds_length": 2520,
"cdna_start": 2066,
"cdna_end": null,
"cdna_length": 20018,
"mane_select": "NM_001012338.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NTRK3",
"gene_hgnc_id": 8033,
"hgvs_c": "c.1728T>C",
"hgvs_p": "p.Asp576Asp",
"transcript": "ENST00000557856.5",
"protein_id": "ENSP00000453959.1",
"transcript_support_level": 1,
"aa_start": 576,
"aa_end": null,
"aa_length": 817,
"cds_start": 1728,
"cds_end": null,
"cds_length": 2454,
"cdna_start": 1752,
"cdna_end": null,
"cdna_length": 2622,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NTRK3",
"gene_hgnc_id": 8033,
"hgvs_c": "c.1728T>C",
"hgvs_p": "p.Asp576Asp",
"transcript": "ENST00000558676.5",
"protein_id": "ENSP00000453511.1",
"transcript_support_level": 1,
"aa_start": 576,
"aa_end": null,
"aa_length": 705,
"cds_start": 1728,
"cds_end": null,
"cds_length": 2118,
"cdna_start": 1754,
"cdna_end": null,
"cdna_length": 4670,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NTRK3",
"gene_hgnc_id": 8033,
"hgvs_c": "n.149T>C",
"hgvs_p": null,
"transcript": "ENST00000559680.1",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 441,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NTRK3",
"gene_hgnc_id": 8033,
"hgvs_c": "c.1752T>C",
"hgvs_p": "p.Asp584Asp",
"transcript": "ENST00000626019.2",
"protein_id": "ENSP00000486784.1",
"transcript_support_level": 5,
"aa_start": 584,
"aa_end": null,
"aa_length": 864,
"cds_start": 1752,
"cds_end": null,
"cds_length": 2595,
"cdna_start": 1752,
"cdna_end": null,
"cdna_length": 2741,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NTRK3",
"gene_hgnc_id": 8033,
"hgvs_c": "c.1752T>C",
"hgvs_p": "p.Asp584Asp",
"transcript": "NM_001375810.1",
"protein_id": "NP_001362739.1",
"transcript_support_level": null,
"aa_start": 584,
"aa_end": null,
"aa_length": 839,
"cds_start": 1752,
"cds_end": null,
"cds_length": 2520,
"cdna_start": 1778,
"cdna_end": null,
"cdna_length": 19730,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NTRK3",
"gene_hgnc_id": 8033,
"hgvs_c": "c.1752T>C",
"hgvs_p": "p.Asp584Asp",
"transcript": "ENST00000695462.1",
"protein_id": "ENSP00000511942.1",
"transcript_support_level": null,
"aa_start": 584,
"aa_end": null,
"aa_length": 839,
"cds_start": 1752,
"cds_end": null,
"cds_length": 2520,
"cdna_start": 2001,
"cdna_end": null,
"cdna_length": 2901,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NTRK3",
"gene_hgnc_id": 8033,
"hgvs_c": "c.1728T>C",
"hgvs_p": "p.Asp576Asp",
"transcript": "ENST00000357724.6",
"protein_id": "ENSP00000350356.2",
"transcript_support_level": 5,
"aa_start": 576,
"aa_end": null,
"aa_length": 831,
"cds_start": 1728,
"cds_end": null,
"cds_length": 2496,
"cdna_start": 2034,
"cdna_end": null,
"cdna_length": 2980,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NTRK3",
"gene_hgnc_id": 8033,
"hgvs_c": "c.1752T>C",
"hgvs_p": "p.Asp584Asp",
"transcript": "NM_001375811.1",
"protein_id": "NP_001362740.1",
"transcript_support_level": null,
"aa_start": 584,
"aa_end": null,
"aa_length": 825,
"cds_start": 1752,
"cds_end": null,
"cds_length": 2478,
"cdna_start": 1778,
"cdna_end": null,
"cdna_length": 19688,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NTRK3",
"gene_hgnc_id": 8033,
"hgvs_c": "c.1752T>C",
"hgvs_p": "p.Asp584Asp",
"transcript": "NM_002530.4",
"protein_id": "NP_002521.2",
"transcript_support_level": null,
"aa_start": 584,
"aa_end": null,
"aa_length": 825,
"cds_start": 1752,
"cds_end": null,
"cds_length": 2478,
"cdna_start": 2066,
"cdna_end": null,
"cdna_length": 19976,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NTRK3",
"gene_hgnc_id": 8033,
"hgvs_c": "c.1752T>C",
"hgvs_p": "p.Asp584Asp",
"transcript": "ENST00000394480.6",
"protein_id": "ENSP00000377990.1",
"transcript_support_level": 5,
"aa_start": 584,
"aa_end": null,
"aa_length": 825,
"cds_start": 1752,
"cds_end": null,
"cds_length": 2478,
"cdna_start": 2074,
"cdna_end": null,
"cdna_length": 19984,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NTRK3",
"gene_hgnc_id": 8033,
"hgvs_c": "c.1728T>C",
"hgvs_p": "p.Asp576Asp",
"transcript": "NM_001243101.2",
"protein_id": "NP_001230030.1",
"transcript_support_level": null,
"aa_start": 576,
"aa_end": null,
"aa_length": 817,
"cds_start": 1728,
"cds_end": null,
"cds_length": 2454,
"cdna_start": 2042,
"cdna_end": null,
"cdna_length": 19952,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NTRK3",
"gene_hgnc_id": 8033,
"hgvs_c": "c.1728T>C",
"hgvs_p": "p.Asp576Asp",
"transcript": "NM_001375812.1",
"protein_id": "NP_001362741.1",
"transcript_support_level": null,
"aa_start": 576,
"aa_end": null,
"aa_length": 817,
"cds_start": 1728,
"cds_end": null,
"cds_length": 2454,
"cdna_start": 1754,
"cdna_end": null,
"cdna_length": 19664,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NTRK3",
"gene_hgnc_id": 8033,
"hgvs_c": "c.1458T>C",
"hgvs_p": "p.Asp486Asp",
"transcript": "NM_001320135.2",
"protein_id": "NP_001307064.1",
"transcript_support_level": null,
"aa_start": 486,
"aa_end": null,
"aa_length": 617,
"cds_start": 1458,
"cds_end": null,
"cds_length": 1854,
"cdna_start": 1659,
"cdna_end": null,
"cdna_length": 2339,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NTRK3",
"gene_hgnc_id": 8033,
"hgvs_c": "c.1458T>C",
"hgvs_p": "p.Asp486Asp",
"transcript": "ENST00000542733.6",
"protein_id": "ENSP00000437773.2",
"transcript_support_level": 2,
"aa_start": 486,
"aa_end": null,
"aa_length": 617,
"cds_start": 1458,
"cds_end": null,
"cds_length": 1854,
"cdna_start": 1618,
"cdna_end": null,
"cdna_length": 2287,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NTRK3",
"gene_hgnc_id": 8033,
"hgvs_c": "c.1752T>C",
"hgvs_p": "p.Asp584Asp",
"transcript": "XM_017022254.3",
"protein_id": "XP_016877743.1",
"transcript_support_level": null,
"aa_start": 584,
"aa_end": null,
"aa_length": 850,
"cds_start": 1752,
"cds_end": null,
"cds_length": 2553,
"cdna_start": 1778,
"cdna_end": null,
"cdna_length": 19763,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NTRK3",
"gene_hgnc_id": 8033,
"hgvs_c": "c.1752T>C",
"hgvs_p": "p.Asp584Asp",
"transcript": "XM_017022240.2",
"protein_id": "XP_016877729.1",
"transcript_support_level": null,
"aa_start": 584,
"aa_end": null,
"aa_length": 825,
"cds_start": 1752,
"cds_end": null,
"cds_length": 2478,
"cdna_start": 2181,
"cdna_end": null,
"cdna_length": 20091,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NTRK3",
"gene_hgnc_id": 8033,
"hgvs_c": "c.1566T>C",
"hgvs_p": "p.Asp522Asp",
"transcript": "XM_017022241.2",
"protein_id": "XP_016877730.1",
"transcript_support_level": null,
"aa_start": 522,
"aa_end": null,
"aa_length": 763,
"cds_start": 1566,
"cds_end": null,
"cds_length": 2292,
"cdna_start": 1718,
"cdna_end": null,
"cdna_length": 19628,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NTRK3",
"gene_hgnc_id": 8033,
"hgvs_c": "c.1752T>C",
"hgvs_p": "p.Asp584Asp",
"transcript": "XM_017022242.3",
"protein_id": "XP_016877731.1",
"transcript_support_level": null,
"aa_start": 584,
"aa_end": null,
"aa_length": 750,
"cds_start": 1752,
"cds_end": null,
"cds_length": 2253,
"cdna_start": 1778,
"cdna_end": null,
"cdna_length": 10796,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NTRK3",
"gene_hgnc_id": 8033,
"hgvs_c": "c.1458T>C",
"hgvs_p": "p.Asp486Asp",
"transcript": "XM_017022243.2",
"protein_id": "XP_016877732.1",
"transcript_support_level": null,
"aa_start": 486,
"aa_end": null,
"aa_length": 727,
"cds_start": 1458,
"cds_end": null,
"cds_length": 2184,
"cdna_start": 1659,
"cdna_end": null,
"cdna_length": 19569,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NTRK3",
"gene_hgnc_id": 8033,
"hgvs_c": "c.1458T>C",
"hgvs_p": "p.Asp486Asp",
"transcript": "XM_017022244.3",
"protein_id": "XP_016877733.1",
"transcript_support_level": null,
"aa_start": 486,
"aa_end": null,
"aa_length": 727,
"cds_start": 1458,
"cds_end": null,
"cds_length": 2184,
"cdna_start": 1596,
"cdna_end": null,
"cdna_length": 19506,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NTRK3",
"gene_hgnc_id": 8033,
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"aa_start": 486,
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"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
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"exon_count": 16,
"intron_rank": null,
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"gene_symbol": "NTRK3",
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"hgvs_c": "c.1752T>C",
"hgvs_p": "p.Asp584Asp",
"transcript": "XM_006720545.5",
"protein_id": "XP_006720608.1",
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
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"exon_count": 10,
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"gene_symbol": "NTRK3",
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"hgvs_c": "c.645T>C",
"hgvs_p": "p.Asp215Asp",
"transcript": "XM_017022251.3",
"protein_id": "XP_016877740.1",
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"aa_start": 215,
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"cdna_start": 1241,
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"biotype": null,
"feature": null
},
{
"aa_ref": "D",
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"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
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"exon_count": 9,
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"gene_symbol": "NTRK3",
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"hgvs_c": "c.621T>C",
"hgvs_p": "p.Asp207Asp",
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"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
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"exon_count": 18,
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"gene_symbol": "NTRK3",
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"hgvs_c": "n.1778T>C",
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"transcript": "XR_001751292.3",
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"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
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"exon_count": 4,
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"gene_symbol": "NTRK3",
"gene_hgnc_id": 8033,
"hgvs_c": "c.-61T>C",
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"transcript": "ENST00000558576.5",
"protein_id": "ENSP00000473315.1",
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"cdna_length": 717,
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"biotype": null,
"feature": null
}
],
"gene_symbol": "NTRK3",
"gene_hgnc_id": 8033,
"dbsnp": "rs748800325",
"frequency_reference_population": 0.0000013681014,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.0000013681,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.5799999833106995,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.58,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.402,
"phylop100way_prediction": "Benign",
"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": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP6_Moderate,BP7",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 7,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "ENST00000629765.3",
"gene_symbol": "NTRK3",
"hgnc_id": 8033,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1752T>C",
"hgvs_p": "p.Asp584Asp"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}