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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: 19-58552409-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=58552409&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 58552409,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_014453.4",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHMP2A",
"gene_hgnc_id": 30216,
"hgvs_c": "c.198G>C",
"hgvs_p": "p.Leu66Phe",
"transcript": "NM_014453.4",
"protein_id": "NP_055268.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 222,
"cds_start": 198,
"cds_end": null,
"cds_length": 669,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000312547.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014453.4"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHMP2A",
"gene_hgnc_id": 30216,
"hgvs_c": "c.198G>C",
"hgvs_p": "p.Leu66Phe",
"transcript": "ENST00000312547.7",
"protein_id": "ENSP00000310440.1",
"transcript_support_level": 1,
"aa_start": 66,
"aa_end": null,
"aa_length": 222,
"cds_start": 198,
"cds_end": null,
"cds_length": 669,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_014453.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000312547.7"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHMP2A",
"gene_hgnc_id": 30216,
"hgvs_c": "c.198G>C",
"hgvs_p": "p.Leu66Phe",
"transcript": "ENST00000600118.6",
"protein_id": "ENSP00000469240.1",
"transcript_support_level": 1,
"aa_start": 66,
"aa_end": null,
"aa_length": 222,
"cds_start": 198,
"cds_end": null,
"cds_length": 669,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000600118.6"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHMP2A",
"gene_hgnc_id": 30216,
"hgvs_c": "c.198G>C",
"hgvs_p": "p.Leu66Phe",
"transcript": "ENST00000601220.5",
"protein_id": "ENSP00000472680.1",
"transcript_support_level": 1,
"aa_start": 66,
"aa_end": null,
"aa_length": 222,
"cds_start": 198,
"cds_end": null,
"cds_length": 669,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000601220.5"
},
{
"aa_ref": "L",
"aa_alt": "F",
"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": "CHMP2A",
"gene_hgnc_id": 30216,
"hgvs_c": "c.198G>C",
"hgvs_p": "p.Leu66Phe",
"transcript": "ENST00000600006.6",
"protein_id": "ENSP00000472097.2",
"transcript_support_level": 2,
"aa_start": 66,
"aa_end": null,
"aa_length": 265,
"cds_start": 198,
"cds_end": null,
"cds_length": 798,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000600006.6"
},
{
"aa_ref": "L",
"aa_alt": "F",
"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": "CHMP2A",
"gene_hgnc_id": 30216,
"hgvs_c": "c.198G>C",
"hgvs_p": "p.Leu66Phe",
"transcript": "ENST00000884949.1",
"protein_id": "ENSP00000555008.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 265,
"cds_start": 198,
"cds_end": null,
"cds_length": 798,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884949.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"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": "CHMP2A",
"gene_hgnc_id": 30216,
"hgvs_c": "c.198G>C",
"hgvs_p": "p.Leu66Phe",
"transcript": "ENST00000884958.1",
"protein_id": "ENSP00000555017.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 265,
"cds_start": 198,
"cds_end": null,
"cds_length": 798,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884958.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"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": "CHMP2A",
"gene_hgnc_id": 30216,
"hgvs_c": "c.198G>C",
"hgvs_p": "p.Leu66Phe",
"transcript": "ENST00000917470.1",
"protein_id": "ENSP00000587529.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 265,
"cds_start": 198,
"cds_end": null,
"cds_length": 798,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917470.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"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": "CHMP2A",
"gene_hgnc_id": 30216,
"hgvs_c": "c.198G>C",
"hgvs_p": "p.Leu66Phe",
"transcript": "ENST00000917473.1",
"protein_id": "ENSP00000587532.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 265,
"cds_start": 198,
"cds_end": null,
"cds_length": 798,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917473.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"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": "CHMP2A",
"gene_hgnc_id": 30216,
"hgvs_c": "c.198G>C",
"hgvs_p": "p.Leu66Phe",
"transcript": "ENST00000917474.1",
"protein_id": "ENSP00000587533.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 265,
"cds_start": 198,
"cds_end": null,
"cds_length": 798,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917474.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHMP2A",
"gene_hgnc_id": 30216,
"hgvs_c": "c.243G>C",
"hgvs_p": "p.Leu81Phe",
"transcript": "ENST00000884953.1",
"protein_id": "ENSP00000555012.1",
"transcript_support_level": null,
"aa_start": 81,
"aa_end": null,
"aa_length": 237,
"cds_start": 243,
"cds_end": null,
"cds_length": 714,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884953.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHMP2A",
"gene_hgnc_id": 30216,
"hgvs_c": "c.243G>C",
"hgvs_p": "p.Leu81Phe",
"transcript": "ENST00000944519.1",
"protein_id": "ENSP00000614578.1",
"transcript_support_level": null,
"aa_start": 81,
"aa_end": null,
"aa_length": 237,
"cds_start": 243,
"cds_end": null,
"cds_length": 714,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944519.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHMP2A",
"gene_hgnc_id": 30216,
"hgvs_c": "c.198G>C",
"hgvs_p": "p.Leu66Phe",
"transcript": "NM_198426.3",
"protein_id": "NP_940818.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 222,
"cds_start": 198,
"cds_end": null,
"cds_length": 669,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_198426.3"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHMP2A",
"gene_hgnc_id": 30216,
"hgvs_c": "c.198G>C",
"hgvs_p": "p.Leu66Phe",
"transcript": "ENST00000596708.2",
"protein_id": "ENSP00000471961.2",
"transcript_support_level": 3,
"aa_start": 66,
"aa_end": null,
"aa_length": 222,
"cds_start": 198,
"cds_end": null,
"cds_length": 669,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000596708.2"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHMP2A",
"gene_hgnc_id": 30216,
"hgvs_c": "c.198G>C",
"hgvs_p": "p.Leu66Phe",
"transcript": "ENST00000597848.2",
"protein_id": "ENSP00000469453.2",
"transcript_support_level": 3,
"aa_start": 66,
"aa_end": null,
"aa_length": 222,
"cds_start": 198,
"cds_end": null,
"cds_length": 669,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000597848.2"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHMP2A",
"gene_hgnc_id": 30216,
"hgvs_c": "c.198G>C",
"hgvs_p": "p.Leu66Phe",
"transcript": "ENST00000884944.1",
"protein_id": "ENSP00000555003.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 222,
"cds_start": 198,
"cds_end": null,
"cds_length": 669,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884944.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHMP2A",
"gene_hgnc_id": 30216,
"hgvs_c": "c.198G>C",
"hgvs_p": "p.Leu66Phe",
"transcript": "ENST00000884947.1",
"protein_id": "ENSP00000555006.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 222,
"cds_start": 198,
"cds_end": null,
"cds_length": 669,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884947.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHMP2A",
"gene_hgnc_id": 30216,
"hgvs_c": "c.198G>C",
"hgvs_p": "p.Leu66Phe",
"transcript": "ENST00000884948.1",
"protein_id": "ENSP00000555007.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 222,
"cds_start": 198,
"cds_end": null,
"cds_length": 669,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884948.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHMP2A",
"gene_hgnc_id": 30216,
"hgvs_c": "c.198G>C",
"hgvs_p": "p.Leu66Phe",
"transcript": "ENST00000884950.1",
"protein_id": "ENSP00000555009.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 222,
"cds_start": 198,
"cds_end": null,
"cds_length": 669,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884950.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHMP2A",
"gene_hgnc_id": 30216,
"hgvs_c": "c.198G>C",
"hgvs_p": "p.Leu66Phe",
"transcript": "ENST00000884952.1",
"protein_id": "ENSP00000555011.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 222,
"cds_start": 198,
"cds_end": null,
"cds_length": 669,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884952.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHMP2A",
"gene_hgnc_id": 30216,
"hgvs_c": "c.198G>C",
"hgvs_p": "p.Leu66Phe",
"transcript": "ENST00000884954.1",
"protein_id": "ENSP00000555013.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 222,
"cds_start": 198,
"cds_end": null,
"cds_length": 669,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884954.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHMP2A",
"gene_hgnc_id": 30216,
"hgvs_c": "c.198G>C",
"hgvs_p": "p.Leu66Phe",
"transcript": "ENST00000884955.1",
"protein_id": "ENSP00000555014.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 222,
"cds_start": 198,
"cds_end": null,
"cds_length": 669,
"cdna_start": null,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000597209.1"
},
{
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHMP2A",
"gene_hgnc_id": 30216,
"hgvs_c": "n.983G>C",
"hgvs_p": null,
"transcript": "ENST00000686722.1",
"protein_id": null,
"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": "retained_intron",
"feature": "ENST00000686722.1"
},
{
"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": "CHMP2A",
"gene_hgnc_id": 30216,
"hgvs_c": "n.624G>C",
"hgvs_p": null,
"transcript": "ENST00000688139.1",
"protein_id": null,
"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": "retained_intron",
"feature": "ENST00000688139.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHMP2A",
"gene_hgnc_id": 30216,
"hgvs_c": "n.2603G>C",
"hgvs_p": null,
"transcript": "ENST00000691588.1",
"protein_id": null,
"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": "retained_intron",
"feature": "ENST00000691588.1"
}
],
"gene_symbol": "CHMP2A",
"gene_hgnc_id": 30216,
"dbsnp": "rs779096961",
"frequency_reference_population": 0.000002478324,
"hom_count_reference_population": 0,
"allele_count_reference_population": 4,
"gnomad_exomes_af": 0.00000205231,
"gnomad_genomes_af": 0.00000656918,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9010270237922668,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.628,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9886,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.25,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 1.223,
"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": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_014453.4",
"gene_symbol": "CHMP2A",
"hgnc_id": 30216,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.198G>C",
"hgvs_p": "p.Leu66Phe"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}