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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: 12-57715801-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=57715801&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 57715801,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_001410980.1",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OS9",
"gene_hgnc_id": 16994,
"hgvs_c": "c.621C>T",
"hgvs_p": "p.Ile207Ile",
"transcript": "NM_006812.4",
"protein_id": "NP_006803.1",
"transcript_support_level": null,
"aa_start": 207,
"aa_end": null,
"aa_length": 667,
"cds_start": 621,
"cds_end": null,
"cds_length": 2004,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000315970.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006812.4"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OS9",
"gene_hgnc_id": 16994,
"hgvs_c": "c.621C>T",
"hgvs_p": "p.Ile207Ile",
"transcript": "ENST00000315970.12",
"protein_id": "ENSP00000318165.7",
"transcript_support_level": 1,
"aa_start": 207,
"aa_end": null,
"aa_length": 667,
"cds_start": 621,
"cds_end": null,
"cds_length": 2004,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006812.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000315970.12"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OS9",
"gene_hgnc_id": 16994,
"hgvs_c": "c.621C>T",
"hgvs_p": "p.Ile207Ile",
"transcript": "ENST00000552285.6",
"protein_id": "ENSP00000450010.1",
"transcript_support_level": 1,
"aa_start": 207,
"aa_end": null,
"aa_length": 612,
"cds_start": 621,
"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": "ENST00000552285.6"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OS9",
"gene_hgnc_id": 16994,
"hgvs_c": "c.621C>T",
"hgvs_p": "p.Ile207Ile",
"transcript": "ENST00000856494.1",
"protein_id": "ENSP00000526553.1",
"transcript_support_level": null,
"aa_start": 207,
"aa_end": null,
"aa_length": 677,
"cds_start": 621,
"cds_end": null,
"cds_length": 2034,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856494.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OS9",
"gene_hgnc_id": 16994,
"hgvs_c": "c.621C>T",
"hgvs_p": "p.Ile207Ile",
"transcript": "ENST00000856505.1",
"protein_id": "ENSP00000526564.1",
"transcript_support_level": null,
"aa_start": 207,
"aa_end": null,
"aa_length": 677,
"cds_start": 621,
"cds_end": null,
"cds_length": 2034,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856505.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OS9",
"gene_hgnc_id": 16994,
"hgvs_c": "c.621C>T",
"hgvs_p": "p.Ile207Ile",
"transcript": "NM_001410980.1",
"protein_id": "NP_001397909.1",
"transcript_support_level": null,
"aa_start": 207,
"aa_end": null,
"aa_length": 668,
"cds_start": 621,
"cds_end": null,
"cds_length": 2007,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001410980.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OS9",
"gene_hgnc_id": 16994,
"hgvs_c": "c.621C>T",
"hgvs_p": "p.Ile207Ile",
"transcript": "ENST00000700665.1",
"protein_id": "ENSP00000515134.1",
"transcript_support_level": null,
"aa_start": 207,
"aa_end": null,
"aa_length": 668,
"cds_start": 621,
"cds_end": null,
"cds_length": 2007,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000700665.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OS9",
"gene_hgnc_id": 16994,
"hgvs_c": "c.621C>T",
"hgvs_p": "p.Ile207Ile",
"transcript": "ENST00000700663.1",
"protein_id": "ENSP00000515132.1",
"transcript_support_level": null,
"aa_start": 207,
"aa_end": null,
"aa_length": 666,
"cds_start": 621,
"cds_end": null,
"cds_length": 2001,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000700663.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OS9",
"gene_hgnc_id": 16994,
"hgvs_c": "c.615C>T",
"hgvs_p": "p.Ile205Ile",
"transcript": "ENST00000856492.1",
"protein_id": "ENSP00000526551.1",
"transcript_support_level": null,
"aa_start": 205,
"aa_end": null,
"aa_length": 666,
"cds_start": 615,
"cds_end": null,
"cds_length": 2001,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856492.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OS9",
"gene_hgnc_id": 16994,
"hgvs_c": "c.621C>T",
"hgvs_p": "p.Ile207Ile",
"transcript": "ENST00000939701.1",
"protein_id": "ENSP00000609760.1",
"transcript_support_level": null,
"aa_start": 207,
"aa_end": null,
"aa_length": 666,
"cds_start": 621,
"cds_end": null,
"cds_length": 2001,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939701.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OS9",
"gene_hgnc_id": 16994,
"hgvs_c": "c.615C>T",
"hgvs_p": "p.Ile205Ile",
"transcript": "ENST00000959827.1",
"protein_id": "ENSP00000629886.1",
"transcript_support_level": null,
"aa_start": 205,
"aa_end": null,
"aa_length": 666,
"cds_start": 615,
"cds_end": null,
"cds_length": 2001,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959827.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OS9",
"gene_hgnc_id": 16994,
"hgvs_c": "c.621C>T",
"hgvs_p": "p.Ile207Ile",
"transcript": "ENST00000700662.1",
"protein_id": "ENSP00000515131.1",
"transcript_support_level": null,
"aa_start": 207,
"aa_end": null,
"aa_length": 665,
"cds_start": 621,
"cds_end": null,
"cds_length": 1998,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000700662.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OS9",
"gene_hgnc_id": 16994,
"hgvs_c": "c.615C>T",
"hgvs_p": "p.Ile205Ile",
"transcript": "ENST00000856487.1",
"protein_id": "ENSP00000526546.1",
"transcript_support_level": null,
"aa_start": 205,
"aa_end": null,
"aa_length": 665,
"cds_start": 615,
"cds_end": null,
"cds_length": 1998,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856487.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OS9",
"gene_hgnc_id": 16994,
"hgvs_c": "c.615C>T",
"hgvs_p": "p.Ile205Ile",
"transcript": "ENST00000959832.1",
"protein_id": "ENSP00000629891.1",
"transcript_support_level": null,
"aa_start": 205,
"aa_end": null,
"aa_length": 665,
"cds_start": 615,
"cds_end": null,
"cds_length": 1998,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959832.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OS9",
"gene_hgnc_id": 16994,
"hgvs_c": "c.615C>T",
"hgvs_p": "p.Ile205Ile",
"transcript": "ENST00000959835.1",
"protein_id": "ENSP00000629894.1",
"transcript_support_level": null,
"aa_start": 205,
"aa_end": null,
"aa_length": 665,
"cds_start": 615,
"cds_end": null,
"cds_length": 1998,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959835.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OS9",
"gene_hgnc_id": 16994,
"hgvs_c": "c.621C>T",
"hgvs_p": "p.Ile207Ile",
"transcript": "ENST00000959833.1",
"protein_id": "ENSP00000629892.1",
"transcript_support_level": null,
"aa_start": 207,
"aa_end": null,
"aa_length": 663,
"cds_start": 621,
"cds_end": null,
"cds_length": 1992,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959833.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OS9",
"gene_hgnc_id": 16994,
"hgvs_c": "c.621C>T",
"hgvs_p": "p.Ile207Ile",
"transcript": "NM_001410978.1",
"protein_id": "NP_001397907.1",
"transcript_support_level": null,
"aa_start": 207,
"aa_end": null,
"aa_length": 653,
"cds_start": 621,
"cds_end": null,
"cds_length": 1962,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001410978.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OS9",
"gene_hgnc_id": 16994,
"hgvs_c": "c.621C>T",
"hgvs_p": "p.Ile207Ile",
"transcript": "ENST00000700661.1",
"protein_id": "ENSP00000515130.1",
"transcript_support_level": null,
"aa_start": 207,
"aa_end": null,
"aa_length": 653,
"cds_start": 621,
"cds_end": null,
"cds_length": 1962,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000700661.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OS9",
"gene_hgnc_id": 16994,
"hgvs_c": "c.621C>T",
"hgvs_p": "p.Ile207Ile",
"transcript": "NM_001017958.3",
"protein_id": "NP_001017958.1",
"transcript_support_level": null,
"aa_start": 207,
"aa_end": null,
"aa_length": 652,
"cds_start": 621,
"cds_end": null,
"cds_length": 1959,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001017958.3"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OS9",
"gene_hgnc_id": 16994,
"hgvs_c": "c.621C>T",
"hgvs_p": "p.Ile207Ile",
"transcript": "ENST00000389146.11",
"protein_id": "ENSP00000373798.6",
"transcript_support_level": 2,
"aa_start": 207,
"aa_end": null,
"aa_length": 652,
"cds_start": 621,
"cds_end": null,
"cds_length": 1959,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000389146.11"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OS9",
"gene_hgnc_id": 16994,
"hgvs_c": "c.615C>T",
"hgvs_p": "p.Ile205Ile",
"transcript": "ENST00000856493.1",
"protein_id": "ENSP00000526552.1",
"transcript_support_level": null,
"aa_start": 205,
"aa_end": null,
"aa_length": 651,
"cds_start": 615,
"cds_end": null,
"cds_length": 1956,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856493.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OS9",
"gene_hgnc_id": 16994,
"hgvs_c": "c.621C>T",
"hgvs_p": "p.Ile207Ile",
"transcript": "ENST00000856515.1",
"protein_id": "ENSP00000526574.1",
"transcript_support_level": null,
"aa_start": 207,
"aa_end": null,
"aa_length": 651,
"cds_start": 621,
"cds_end": null,
"cds_length": 1956,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OS9",
"gene_hgnc_id": 16994,
"hgvs_c": "n.621C>T",
"hgvs_p": null,
"transcript": "ENST00000700664.1",
"protein_id": "ENSP00000515133.1",
"transcript_support_level": null,
"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": "nonsense_mediated_decay",
"feature": "ENST00000700664.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OS9",
"gene_hgnc_id": 16994,
"hgvs_c": "n.*424C>T",
"hgvs_p": null,
"transcript": "ENST00000700667.1",
"protein_id": "ENSP00000515135.1",
"transcript_support_level": null,
"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": "nonsense_mediated_decay",
"feature": "ENST00000700667.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OS9",
"gene_hgnc_id": 16994,
"hgvs_c": "n.*378C>T",
"hgvs_p": null,
"transcript": "ENST00000552423.2",
"protein_id": "ENSP00000447163.1",
"transcript_support_level": 3,
"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": "nonsense_mediated_decay",
"feature": "ENST00000552423.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OS9",
"gene_hgnc_id": 16994,
"hgvs_c": "n.*118C>T",
"hgvs_p": null,
"transcript": "ENST00000552787.5",
"protein_id": "ENSP00000447451.1",
"transcript_support_level": 2,
"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": "nonsense_mediated_decay",
"feature": "ENST00000552787.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OS9",
"gene_hgnc_id": 16994,
"hgvs_c": "n.*424C>T",
"hgvs_p": null,
"transcript": "ENST00000700667.1",
"protein_id": "ENSP00000515135.1",
"transcript_support_level": null,
"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": "nonsense_mediated_decay",
"feature": "ENST00000700667.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "OS9-AS1",
"gene_hgnc_id": 58278,
"hgvs_c": "n.534+5176G>A",
"hgvs_p": null,
"transcript": "ENST00000549477.1",
"protein_id": null,
"transcript_support_level": 3,
"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": "pseudogene",
"feature": "ENST00000549477.1"
}
],
"gene_symbol": "OS9",
"gene_hgnc_id": 16994,
"dbsnp": "rs767995006",
"frequency_reference_population": 0.000021072568,
"hom_count_reference_population": 0,
"allele_count_reference_population": 34,
"gnomad_exomes_af": 0.0000191612,
"gnomad_genomes_af": 0.0000394254,
"gnomad_exomes_ac": 28,
"gnomad_genomes_ac": 6,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.5,
"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": -0.5,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -3.07,
"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": -11,
"acmg_classification": "Benign",
"acmg_criteria": "PM2,BP4_Strong,BP6_Very_Strong,BP7",
"acmg_by_gene": [
{
"score": -11,
"benign_score": 13,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Very_Strong",
"BP7"
],
"verdict": "Benign",
"transcript": "NM_001410980.1",
"gene_symbol": "OS9",
"hgnc_id": 16994,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.621C>T",
"hgvs_p": "p.Ile207Ile"
},
{
"score": -10,
"benign_score": 12,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Very_Strong"
],
"verdict": "Benign",
"transcript": "ENST00000549477.1",
"gene_symbol": "OS9-AS1",
"hgnc_id": 58278,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.534+5176G>A",
"hgvs_p": null
}
],
"clinvar_disease": "not provided,not specified",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2",
"phenotype_combined": "not provided|not specified",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}