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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: 6-32001644-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=32001644&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 32001644,
"ref": "C",
"alt": "T",
"effect": "intron_variant",
"transcript": "NM_007293.3",
"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": 41,
"intron_rank": 38,
"intron_rank_end": null,
"gene_symbol": "C4A",
"gene_hgnc_id": 1323,
"hgvs_c": "c.4876+50C>T",
"hgvs_p": null,
"transcript": "NM_007293.3",
"protein_id": "NP_009224.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1744,
"cds_start": null,
"cds_end": null,
"cds_length": 5235,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5427,
"mane_select": "ENST00000428956.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_007293.3"
},
{
"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": 41,
"intron_rank": 38,
"intron_rank_end": null,
"gene_symbol": "C4A",
"gene_hgnc_id": 1323,
"hgvs_c": "c.4876+50C>T",
"hgvs_p": null,
"transcript": "ENST00000428956.7",
"protein_id": "ENSP00000396688.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1744,
"cds_start": null,
"cds_end": null,
"cds_length": 5235,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5427,
"mane_select": "NM_007293.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000428956.7"
},
{
"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": 40,
"intron_rank": 37,
"intron_rank_end": null,
"gene_symbol": "C4A",
"gene_hgnc_id": 1323,
"hgvs_c": "c.4738+50C>T",
"hgvs_p": null,
"transcript": "ENST00000498271.1",
"protein_id": "ENSP00000420212.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1698,
"cds_start": null,
"cds_end": null,
"cds_length": 5097,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5269,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000498271.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "C4A",
"gene_hgnc_id": 1323,
"hgvs_c": "n.347+50C>T",
"hgvs_p": null,
"transcript": "ENST00000469975.5",
"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": 830,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000469975.5"
},
{
"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": 41,
"intron_rank": 38,
"intron_rank_end": null,
"gene_symbol": "C4A",
"gene_hgnc_id": 1323,
"hgvs_c": "c.4939+50C>T",
"hgvs_p": null,
"transcript": "ENST00000883667.1",
"protein_id": "ENSP00000553726.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1765,
"cds_start": null,
"cds_end": null,
"cds_length": 5298,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5546,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883667.1"
},
{
"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": 41,
"intron_rank": 38,
"intron_rank_end": null,
"gene_symbol": "C4A",
"gene_hgnc_id": 1323,
"hgvs_c": "c.4897+50C>T",
"hgvs_p": null,
"transcript": "ENST00000883669.1",
"protein_id": "ENSP00000553728.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1751,
"cds_start": null,
"cds_end": null,
"cds_length": 5256,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5447,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883669.1"
},
{
"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": 41,
"intron_rank": 38,
"intron_rank_end": null,
"gene_symbol": "C4A",
"gene_hgnc_id": 1323,
"hgvs_c": "c.4885+50C>T",
"hgvs_p": null,
"transcript": "ENST00000967849.1",
"protein_id": "ENSP00000637908.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1747,
"cds_start": null,
"cds_end": null,
"cds_length": 5244,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5481,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967849.1"
},
{
"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": 41,
"intron_rank": 38,
"intron_rank_end": null,
"gene_symbol": "C4A",
"gene_hgnc_id": 1323,
"hgvs_c": "c.4840+50C>T",
"hgvs_p": null,
"transcript": "ENST00000967852.1",
"protein_id": "ENSP00000637911.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1732,
"cds_start": null,
"cds_end": null,
"cds_length": 5199,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5377,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967852.1"
},
{
"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": 41,
"intron_rank": 38,
"intron_rank_end": null,
"gene_symbol": "C4A",
"gene_hgnc_id": 1323,
"hgvs_c": "c.4825+50C>T",
"hgvs_p": null,
"transcript": "ENST00000883675.1",
"protein_id": "ENSP00000553734.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1727,
"cds_start": null,
"cds_end": null,
"cds_length": 5184,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5357,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883675.1"
},
{
"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": 41,
"intron_rank": 38,
"intron_rank_end": null,
"gene_symbol": "C4A",
"gene_hgnc_id": 1323,
"hgvs_c": "c.4816+50C>T",
"hgvs_p": null,
"transcript": "ENST00000883671.1",
"protein_id": "ENSP00000553730.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1724,
"cds_start": null,
"cds_end": null,
"cds_length": 5175,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5352,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883671.1"
},
{
"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": 41,
"intron_rank": 38,
"intron_rank_end": null,
"gene_symbol": "C4A",
"gene_hgnc_id": 1323,
"hgvs_c": "c.4795+50C>T",
"hgvs_p": null,
"transcript": "ENST00000883672.1",
"protein_id": "ENSP00000553731.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1717,
"cds_start": null,
"cds_end": null,
"cds_length": 5154,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5331,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883672.1"
},
{
"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": 41,
"intron_rank": 38,
"intron_rank_end": null,
"gene_symbol": "C4A",
"gene_hgnc_id": 1323,
"hgvs_c": "c.4795+50C>T",
"hgvs_p": null,
"transcript": "ENST00000967854.1",
"protein_id": "ENSP00000637913.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1717,
"cds_start": null,
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"cds_length": 5154,
"cdna_start": null,
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"cdna_length": 5328,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967854.1"
},
{
"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": 41,
"intron_rank": 38,
"intron_rank_end": null,
"gene_symbol": "C4A",
"gene_hgnc_id": 1323,
"hgvs_c": "c.4792+50C>T",
"hgvs_p": null,
"transcript": "ENST00000883670.1",
"protein_id": "ENSP00000553729.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1716,
"cds_start": null,
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"cds_length": 5151,
"cdna_start": null,
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"cdna_length": 5333,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883670.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": 37,
"intron_rank_end": null,
"gene_symbol": "C4A",
"gene_hgnc_id": 1323,
"hgvs_c": "c.4786+50C>T",
"hgvs_p": null,
"transcript": "ENST00000967850.1",
"protein_id": "ENSP00000637909.1",
"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,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967850.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": 37,
"intron_rank_end": null,
"gene_symbol": "C4A",
"gene_hgnc_id": 1323,
"hgvs_c": "c.4786+50C>T",
"hgvs_p": null,
"transcript": "ENST00000967851.1",
"protein_id": "ENSP00000637910.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1714,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967851.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": 38,
"intron_rank_end": null,
"gene_symbol": "C4A",
"gene_hgnc_id": 1323,
"hgvs_c": "c.4765+50C>T",
"hgvs_p": null,
"transcript": "ENST00000883676.1",
"protein_id": "ENSP00000553735.1",
"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": "ENST00000883676.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": 37,
"intron_rank_end": null,
"gene_symbol": "C4A",
"gene_hgnc_id": 1323,
"hgvs_c": "c.4762+50C>T",
"hgvs_p": null,
"transcript": "ENST00000967848.1",
"protein_id": "ENSP00000637907.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1706,
"cds_start": null,
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"cdna_start": null,
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"cdna_length": 7565,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967848.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": 38,
"intron_rank_end": null,
"gene_symbol": "C4A",
"gene_hgnc_id": 1323,
"hgvs_c": "c.4762+50C>T",
"hgvs_p": null,
"transcript": "ENST00000967853.1",
"protein_id": "ENSP00000637912.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1706,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967853.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": 37,
"intron_rank_end": null,
"gene_symbol": "C4A",
"gene_hgnc_id": 1323,
"hgvs_c": "c.4738+50C>T",
"hgvs_p": null,
"transcript": "NM_001252204.2",
"protein_id": "NP_001239133.1",
"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_001252204.2"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": 38,
"intron_rank_end": null,
"gene_symbol": "C4A",
"gene_hgnc_id": 1323,
"hgvs_c": "c.4732+50C>T",
"hgvs_p": null,
"transcript": "ENST00000883673.1",
"protein_id": "ENSP00000553732.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"cds_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000883673.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": 37,
"intron_rank_end": null,
"gene_symbol": "C4A",
"gene_hgnc_id": 1323,
"hgvs_c": "c.4717+50C>T",
"hgvs_p": null,
"transcript": "ENST00000883674.1",
"protein_id": "ENSP00000553733.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1691,
"cds_start": null,
"cds_end": null,
"cds_length": 5076,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5250,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883674.1"
},
{
"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": 40,
"intron_rank": 37,
"intron_rank_end": null,
"gene_symbol": "C4A",
"gene_hgnc_id": 1323,
"hgvs_c": "c.4711+50C>T",
"hgvs_p": null,
"transcript": "ENST00000883668.1",
"protein_id": "ENSP00000553727.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1689,
"cds_start": null,
"cds_end": null,
"cds_length": 5070,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5271,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883668.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
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{
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"feature": "ENST00000490663.1"
},
{
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"protein_coding": false,
"strand": false,
"consequences": [
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],
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"gene_symbol": "C4A-AS1",
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"biotype": "pseudogene",
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},
{
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"protein_coding": false,
"strand": true,
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],
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"exon_count": 8,
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"gene_symbol": "C4A",
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"biotype": "retained_intron",
"feature": "ENST00000463034.5"
},
{
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"protein_coding": false,
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"consequences": [
"intron_variant"
],
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"gene_symbol": "C4A",
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},
{
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"strand": true,
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"intron_variant"
],
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"gene_symbol": "C4A",
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"hgvs_c": "n.*33+50C>T",
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"transcript": "ENST00000698442.1",
"protein_id": "ENSP00000513724.1",
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000698442.1"
},
{
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"strand": true,
"consequences": [
"downstream_gene_variant"
],
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"exon_count": 2,
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"gene_symbol": "C4A",
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"hgvs_c": "n.*50C>T",
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"transcript": "ENST00000477424.2",
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"biotype": "retained_intron",
"feature": "ENST00000477424.2"
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],
"gene_symbol": "C4A",
"gene_hgnc_id": 1323,
"dbsnp": "rs149763320",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.9900000095367432,
"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": -0.99,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.267,
"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": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_007293.3",
"gene_symbol": "C4A",
"hgnc_id": 1323,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR,Unknown",
"hgvs_c": "c.4876+50C>T",
"hgvs_p": null
},
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000458633.1",
"gene_symbol": "C4A-AS1",
"hgnc_id": 39753,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.503-76G>A",
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}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "B:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}