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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: 18-36159990-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=36159990&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 36159990,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000358232.11",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP2",
"gene_hgnc_id": 18248,
"hgvs_c": "c.1663A>G",
"hgvs_p": "p.Thr555Ala",
"transcript": "NM_018255.4",
"protein_id": "NP_060725.1",
"transcript_support_level": null,
"aa_start": 555,
"aa_end": null,
"aa_length": 826,
"cds_start": 1663,
"cds_end": null,
"cds_length": 2481,
"cdna_start": 1698,
"cdna_end": null,
"cdna_length": 8432,
"mane_select": "ENST00000358232.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP2",
"gene_hgnc_id": 18248,
"hgvs_c": "c.1663A>G",
"hgvs_p": "p.Thr555Ala",
"transcript": "ENST00000358232.11",
"protein_id": "ENSP00000350967.6",
"transcript_support_level": 1,
"aa_start": 555,
"aa_end": null,
"aa_length": 826,
"cds_start": 1663,
"cds_end": null,
"cds_length": 2481,
"cdna_start": 1698,
"cdna_end": null,
"cdna_length": 8432,
"mane_select": "NM_018255.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP2",
"gene_hgnc_id": 18248,
"hgvs_c": "c.1453A>G",
"hgvs_p": "p.Thr485Ala",
"transcript": "ENST00000423854.6",
"protein_id": "ENSP00000391202.2",
"transcript_support_level": 1,
"aa_start": 485,
"aa_end": null,
"aa_length": 756,
"cds_start": 1453,
"cds_end": null,
"cds_length": 2271,
"cdna_start": 1488,
"cdna_end": null,
"cdna_length": 2385,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP2",
"gene_hgnc_id": 18248,
"hgvs_c": "c.1453A>G",
"hgvs_p": "p.Thr485Ala",
"transcript": "ENST00000542824.5",
"protein_id": "ENSP00000443800.1",
"transcript_support_level": 1,
"aa_start": 485,
"aa_end": null,
"aa_length": 756,
"cds_start": 1453,
"cds_end": null,
"cds_length": 2271,
"cdna_start": 1463,
"cdna_end": null,
"cdna_length": 2288,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP2",
"gene_hgnc_id": 18248,
"hgvs_c": "n.1663A>G",
"hgvs_p": null,
"transcript": "ENST00000539560.5",
"protein_id": "ENSP00000443555.1",
"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": 2542,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP2",
"gene_hgnc_id": 18248,
"hgvs_c": "c.1858A>G",
"hgvs_p": "p.Thr620Ala",
"transcript": "NM_001242875.3",
"protein_id": "NP_001229804.1",
"transcript_support_level": null,
"aa_start": 620,
"aa_end": null,
"aa_length": 891,
"cds_start": 1858,
"cds_end": null,
"cds_length": 2676,
"cdna_start": 1893,
"cdna_end": null,
"cdna_length": 8627,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP2",
"gene_hgnc_id": 18248,
"hgvs_c": "c.1858A>G",
"hgvs_p": "p.Thr620Ala",
"transcript": "ENST00000442325.6",
"protein_id": "ENSP00000414851.2",
"transcript_support_level": 2,
"aa_start": 620,
"aa_end": null,
"aa_length": 891,
"cds_start": 1858,
"cds_end": null,
"cds_length": 2676,
"cdna_start": 1894,
"cdna_end": null,
"cdna_length": 2722,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP2",
"gene_hgnc_id": 18248,
"hgvs_c": "c.1780A>G",
"hgvs_p": "p.Thr594Ala",
"transcript": "NM_001324466.2",
"protein_id": "NP_001311395.1",
"transcript_support_level": null,
"aa_start": 594,
"aa_end": null,
"aa_length": 865,
"cds_start": 1780,
"cds_end": null,
"cds_length": 2598,
"cdna_start": 1815,
"cdna_end": null,
"cdna_length": 8549,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP2",
"gene_hgnc_id": 18248,
"hgvs_c": "c.1648A>G",
"hgvs_p": "p.Thr550Ala",
"transcript": "NM_001242876.3",
"protein_id": "NP_001229805.1",
"transcript_support_level": null,
"aa_start": 550,
"aa_end": null,
"aa_length": 821,
"cds_start": 1648,
"cds_end": null,
"cds_length": 2466,
"cdna_start": 1683,
"cdna_end": null,
"cdna_length": 8417,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP2",
"gene_hgnc_id": 18248,
"hgvs_c": "c.1648A>G",
"hgvs_p": "p.Thr550Ala",
"transcript": "ENST00000350494.10",
"protein_id": "ENSP00000316051.6",
"transcript_support_level": 2,
"aa_start": 550,
"aa_end": null,
"aa_length": 821,
"cds_start": 1648,
"cds_end": null,
"cds_length": 2466,
"cdna_start": 1662,
"cdna_end": null,
"cdna_length": 2487,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP2",
"gene_hgnc_id": 18248,
"hgvs_c": "c.1585A>G",
"hgvs_p": "p.Thr529Ala",
"transcript": "NM_001242877.3",
"protein_id": "NP_001229806.1",
"transcript_support_level": null,
"aa_start": 529,
"aa_end": null,
"aa_length": 800,
"cds_start": 1585,
"cds_end": null,
"cds_length": 2403,
"cdna_start": 1620,
"cdna_end": null,
"cdna_length": 8354,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP2",
"gene_hgnc_id": 18248,
"hgvs_c": "c.1585A>G",
"hgvs_p": "p.Thr529Ala",
"transcript": "ENST00000351393.10",
"protein_id": "ENSP00000257191.7",
"transcript_support_level": 2,
"aa_start": 529,
"aa_end": null,
"aa_length": 800,
"cds_start": 1585,
"cds_end": null,
"cds_length": 2403,
"cdna_start": 1628,
"cdna_end": null,
"cdna_length": 2453,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP2",
"gene_hgnc_id": 18248,
"hgvs_c": "c.1531A>G",
"hgvs_p": "p.Thr511Ala",
"transcript": "NM_001324465.2",
"protein_id": "NP_001311394.1",
"transcript_support_level": null,
"aa_start": 511,
"aa_end": null,
"aa_length": 782,
"cds_start": 1531,
"cds_end": null,
"cds_length": 2349,
"cdna_start": 1566,
"cdna_end": null,
"cdna_length": 8300,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP2",
"gene_hgnc_id": 18248,
"hgvs_c": "c.1513A>G",
"hgvs_p": "p.Thr505Ala",
"transcript": "NM_001324467.2",
"protein_id": "NP_001311396.1",
"transcript_support_level": null,
"aa_start": 505,
"aa_end": null,
"aa_length": 776,
"cds_start": 1513,
"cds_end": null,
"cds_length": 2331,
"cdna_start": 1548,
"cdna_end": null,
"cdna_length": 8282,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP2",
"gene_hgnc_id": 18248,
"hgvs_c": "c.1453A>G",
"hgvs_p": "p.Thr485Ala",
"transcript": "NM_001242878.3",
"protein_id": "NP_001229807.1",
"transcript_support_level": null,
"aa_start": 485,
"aa_end": null,
"aa_length": 756,
"cds_start": 1453,
"cds_end": null,
"cds_length": 2271,
"cdna_start": 1488,
"cdna_end": null,
"cdna_length": 8222,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP2",
"gene_hgnc_id": 18248,
"hgvs_c": "c.1453A>G",
"hgvs_p": "p.Thr485Ala",
"transcript": "NM_001242879.3",
"protein_id": "NP_001229808.1",
"transcript_support_level": null,
"aa_start": 485,
"aa_end": null,
"aa_length": 756,
"cds_start": 1453,
"cds_end": null,
"cds_length": 2271,
"cdna_start": 1488,
"cdna_end": null,
"cdna_length": 8222,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP2",
"gene_hgnc_id": 18248,
"hgvs_c": "c.1216A>G",
"hgvs_p": "p.Thr406Ala",
"transcript": "NM_001324468.2",
"protein_id": "NP_001311397.1",
"transcript_support_level": null,
"aa_start": 406,
"aa_end": null,
"aa_length": 677,
"cds_start": 1216,
"cds_end": null,
"cds_length": 2034,
"cdna_start": 1619,
"cdna_end": null,
"cdna_length": 8353,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP2",
"gene_hgnc_id": 18248,
"hgvs_c": "c.1858A>G",
"hgvs_p": "p.Thr620Ala",
"transcript": "XM_047437610.1",
"protein_id": "XP_047293566.1",
"transcript_support_level": null,
"aa_start": 620,
"aa_end": null,
"aa_length": 777,
"cds_start": 1858,
"cds_end": null,
"cds_length": 2334,
"cdna_start": 1893,
"cdna_end": null,
"cdna_length": 2420,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP2",
"gene_hgnc_id": 18248,
"hgvs_c": "n.106A>G",
"hgvs_p": null,
"transcript": "ENST00000540766.5",
"protein_id": "ENSP00000440651.1",
"transcript_support_level": 3,
"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": 1049,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP2",
"gene_hgnc_id": 18248,
"hgvs_c": "n.34A>G",
"hgvs_p": null,
"transcript": "ENST00000541294.1",
"protein_id": null,
"transcript_support_level": 5,
"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": 883,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP2",
"gene_hgnc_id": 18248,
"hgvs_c": "n.311A>G",
"hgvs_p": null,
"transcript": "ENST00000543861.5",
"protein_id": null,
"transcript_support_level": 4,
"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": 555,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP2",
"gene_hgnc_id": 18248,
"hgvs_c": "n.1698A>G",
"hgvs_p": null,
"transcript": "NR_040110.3",
"protein_id": null,
"transcript_support_level": null,
"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": 8380,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP2",
"gene_hgnc_id": 18248,
"hgvs_c": "n.1631A>G",
"hgvs_p": null,
"transcript": "NR_136897.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
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{
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],
"gene_symbol": "ELP2",
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"dbsnp": "rs772450541",
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"hom_count_reference_population": 0,
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"gnomad_exomes_homalt": 0,
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"computational_score_selected": 0.8457897305488586,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.7072,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.11,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 8.812,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.02,
"spliceai_max_prediction": "Benign",
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"apogee2_score": null,
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"acmg_score": 6,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PM5,PP3_Moderate",
"acmg_by_gene": [
{
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"criteria": [
"PM2",
"PM5",
"PP3_Moderate"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000358232.11",
"gene_symbol": "ELP2",
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"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1663A>G",
"hgvs_p": "p.Thr555Ala"
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],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}