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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: 22-46248230-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=46248230&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 46248230,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_207327.5",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDPF1",
"gene_hgnc_id": 33710,
"hgvs_c": "c.55A>G",
"hgvs_p": "p.Thr19Ala",
"transcript": "NM_207327.5",
"protein_id": "NP_997210.3",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 123,
"cds_start": 55,
"cds_end": null,
"cds_length": 372,
"cdna_start": 93,
"cdna_end": null,
"cdna_length": 1489,
"mane_select": "ENST00000314567.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_207327.5"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDPF1",
"gene_hgnc_id": 33710,
"hgvs_c": "c.55A>G",
"hgvs_p": "p.Thr19Ala",
"transcript": "ENST00000314567.8",
"protein_id": "ENSP00000325301.3",
"transcript_support_level": 1,
"aa_start": 19,
"aa_end": null,
"aa_length": 123,
"cds_start": 55,
"cds_end": null,
"cds_length": 372,
"cdna_start": 93,
"cdna_end": null,
"cdna_length": 1489,
"mane_select": "NM_207327.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000314567.8"
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDPF1",
"gene_hgnc_id": 33710,
"hgvs_c": "n.55A>G",
"hgvs_p": null,
"transcript": "ENST00000381037.4",
"protein_id": "ENSP00000370425.4",
"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": 1600,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000381037.4"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDPF1",
"gene_hgnc_id": 33710,
"hgvs_c": "c.55A>G",
"hgvs_p": "p.Thr19Ala",
"transcript": "ENST00000904360.1",
"protein_id": "ENSP00000574419.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 123,
"cds_start": 55,
"cds_end": null,
"cds_length": 372,
"cdna_start": 160,
"cdna_end": null,
"cdna_length": 1558,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904360.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDPF1",
"gene_hgnc_id": 33710,
"hgvs_c": "c.55A>G",
"hgvs_p": "p.Thr19Ala",
"transcript": "ENST00000904363.1",
"protein_id": "ENSP00000574422.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 123,
"cds_start": 55,
"cds_end": null,
"cds_length": 372,
"cdna_start": 338,
"cdna_end": null,
"cdna_length": 1724,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904363.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDPF1",
"gene_hgnc_id": 33710,
"hgvs_c": "c.55A>G",
"hgvs_p": "p.Thr19Ala",
"transcript": "ENST00000904364.1",
"protein_id": "ENSP00000574423.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 123,
"cds_start": 55,
"cds_end": null,
"cds_length": 372,
"cdna_start": 945,
"cdna_end": null,
"cdna_length": 2333,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904364.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDPF1",
"gene_hgnc_id": 33710,
"hgvs_c": "c.55A>G",
"hgvs_p": "p.Thr19Ala",
"transcript": "ENST00000904365.1",
"protein_id": "ENSP00000574424.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 123,
"cds_start": 55,
"cds_end": null,
"cds_length": 372,
"cdna_start": 2043,
"cdna_end": null,
"cdna_length": 3430,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904365.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDPF1",
"gene_hgnc_id": 33710,
"hgvs_c": "c.55A>G",
"hgvs_p": "p.Thr19Ala",
"transcript": "ENST00000904366.1",
"protein_id": "ENSP00000574425.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 123,
"cds_start": 55,
"cds_end": null,
"cds_length": 372,
"cdna_start": 426,
"cdna_end": null,
"cdna_length": 1818,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904366.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDPF1",
"gene_hgnc_id": 33710,
"hgvs_c": "c.55A>G",
"hgvs_p": "p.Thr19Ala",
"transcript": "ENST00000904367.1",
"protein_id": "ENSP00000574426.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 123,
"cds_start": 55,
"cds_end": null,
"cds_length": 372,
"cdna_start": 1888,
"cdna_end": null,
"cdna_length": 3275,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904367.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDPF1",
"gene_hgnc_id": 33710,
"hgvs_c": "c.55A>G",
"hgvs_p": "p.Thr19Ala",
"transcript": "ENST00000931570.1",
"protein_id": "ENSP00000601629.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 123,
"cds_start": 55,
"cds_end": null,
"cds_length": 372,
"cdna_start": 276,
"cdna_end": null,
"cdna_length": 1669,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931570.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDPF1",
"gene_hgnc_id": 33710,
"hgvs_c": "c.55A>G",
"hgvs_p": "p.Thr19Ala",
"transcript": "ENST00000931571.1",
"protein_id": "ENSP00000601630.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 123,
"cds_start": 55,
"cds_end": null,
"cds_length": 372,
"cdna_start": 916,
"cdna_end": null,
"cdna_length": 2308,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931571.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDPF1",
"gene_hgnc_id": 33710,
"hgvs_c": "c.55A>G",
"hgvs_p": "p.Thr19Ala",
"transcript": "ENST00000931572.1",
"protein_id": "ENSP00000601631.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 123,
"cds_start": 55,
"cds_end": null,
"cds_length": 372,
"cdna_start": 188,
"cdna_end": null,
"cdna_length": 1574,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931572.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDPF1",
"gene_hgnc_id": 33710,
"hgvs_c": "c.55A>G",
"hgvs_p": "p.Thr19Ala",
"transcript": "ENST00000931573.1",
"protein_id": "ENSP00000601632.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 123,
"cds_start": 55,
"cds_end": null,
"cds_length": 372,
"cdna_start": 153,
"cdna_end": null,
"cdna_length": 1541,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931573.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDPF1",
"gene_hgnc_id": 33710,
"hgvs_c": "c.55A>G",
"hgvs_p": "p.Thr19Ala",
"transcript": "ENST00000962067.1",
"protein_id": "ENSP00000632126.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 123,
"cds_start": 55,
"cds_end": null,
"cds_length": 372,
"cdna_start": 271,
"cdna_end": null,
"cdna_length": 1654,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962067.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDPF1",
"gene_hgnc_id": 33710,
"hgvs_c": "c.55A>G",
"hgvs_p": "p.Thr19Ala",
"transcript": "ENST00000404583.5",
"protein_id": "ENSP00000384451.1",
"transcript_support_level": 2,
"aa_start": 19,
"aa_end": null,
"aa_length": 118,
"cds_start": 55,
"cds_end": null,
"cds_length": 357,
"cdna_start": 56,
"cdna_end": null,
"cdna_length": 1439,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000404583.5"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDPF1",
"gene_hgnc_id": 33710,
"hgvs_c": "c.55A>G",
"hgvs_p": "p.Thr19Ala",
"transcript": "ENST00000904358.1",
"protein_id": "ENSP00000574417.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 118,
"cds_start": 55,
"cds_end": null,
"cds_length": 357,
"cdna_start": 108,
"cdna_end": null,
"cdna_length": 1491,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904358.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDPF1",
"gene_hgnc_id": 33710,
"hgvs_c": "c.55A>G",
"hgvs_p": "p.Thr19Ala",
"transcript": "ENST00000904361.1",
"protein_id": "ENSP00000574420.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 118,
"cds_start": 55,
"cds_end": null,
"cds_length": 357,
"cdna_start": 960,
"cdna_end": null,
"cdna_length": 2337,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904361.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDPF1",
"gene_hgnc_id": 33710,
"hgvs_c": "c.55A>G",
"hgvs_p": "p.Thr19Ala",
"transcript": "ENST00000404744.1",
"protein_id": "ENSP00000385460.1",
"transcript_support_level": 3,
"aa_start": 19,
"aa_end": null,
"aa_length": 115,
"cds_start": 55,
"cds_end": null,
"cds_length": 348,
"cdna_start": 56,
"cdna_end": null,
"cdna_length": 1541,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000404744.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDPF1",
"gene_hgnc_id": 33710,
"hgvs_c": "c.55A>G",
"hgvs_p": "p.Thr19Ala",
"transcript": "ENST00000904362.1",
"protein_id": "ENSP00000574421.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 99,
"cds_start": 55,
"cds_end": null,
"cds_length": 300,
"cdna_start": 84,
"cdna_end": null,
"cdna_length": 1406,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904362.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDPF1",
"gene_hgnc_id": 33710,
"hgvs_c": "c.55A>G",
"hgvs_p": "p.Thr19Ala",
"transcript": "ENST00000962068.1",
"protein_id": "ENSP00000632127.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 85,
"cds_start": 55,
"cds_end": null,
"cds_length": 258,
"cdna_start": 56,
"cdna_end": null,
"cdna_length": 1329,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962068.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDPF1",
"gene_hgnc_id": 33710,
"hgvs_c": "c.55A>G",
"hgvs_p": "p.Thr19Ala",
"transcript": "ENST00000904359.1",
"protein_id": "ENSP00000574418.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 83,
"cds_start": 55,
"cds_end": null,
"cds_length": 252,
"cdna_start": 108,
"cdna_end": null,
"cdna_length": 1376,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904359.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDPF1",
"gene_hgnc_id": 33710,
"hgvs_c": "c.55A>G",
"hgvs_p": "p.Thr19Ala",
"transcript": "XM_011529960.3",
"protein_id": "XP_011528262.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 217,
"cds_start": 55,
"cds_end": null,
"cds_length": 654,
"cdna_start": 93,
"cdna_end": null,
"cdna_length": 1493,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
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{
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],
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},
{
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],
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"gene_symbol": "CDPF1",
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},
{
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],
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"gene_symbol": "CDPF1",
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"biotype": "pseudogene",
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},
{
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],
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"gene_symbol": "CDPF1",
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},
{
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],
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"biotype": "pseudogene",
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],
"gene_symbol": "CDPF1",
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"dbsnp": "rs1232967321",
"frequency_reference_population": 0.0000020526265,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 0.00000205263,
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"gnomad_exomes_ac": 3,
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"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.01929241418838501,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.037,
"revel_prediction": "Benign",
"alphamissense_score": 0.0495,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.72,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.174,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP6_Moderate",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 6,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_207327.5",
"gene_symbol": "CDPF1",
"hgnc_id": 33710,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.55A>G",
"hgvs_p": "p.Thr19Ala"
},
{
"score": -4,
"benign_score": 6,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000848528.1",
"gene_symbol": "ENSG00000310243",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.137+2187T>C",
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}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}