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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: 22-50580645-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=50580645&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 50580645,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "NM_005198.5",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHKB",
"gene_hgnc_id": 1938,
"hgvs_c": "c.597C>T",
"hgvs_p": "p.Ile199Ile",
"transcript": "NM_005198.5",
"protein_id": "NP_005189.2",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 395,
"cds_start": 597,
"cds_end": null,
"cds_length": 1188,
"cdna_start": 665,
"cdna_end": null,
"cdna_length": 1474,
"mane_select": "ENST00000406938.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005198.5"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHKB",
"gene_hgnc_id": 1938,
"hgvs_c": "c.597C>T",
"hgvs_p": "p.Ile199Ile",
"transcript": "ENST00000406938.3",
"protein_id": "ENSP00000384400.3",
"transcript_support_level": 1,
"aa_start": 199,
"aa_end": null,
"aa_length": 395,
"cds_start": 597,
"cds_end": null,
"cds_length": 1188,
"cdna_start": 665,
"cdna_end": null,
"cdna_length": 1474,
"mane_select": "NM_005198.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000406938.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHKB",
"gene_hgnc_id": 1938,
"hgvs_c": "n.1047C>T",
"hgvs_p": null,
"transcript": "ENST00000481673.5",
"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": 1856,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000481673.5"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHKB",
"gene_hgnc_id": 1938,
"hgvs_c": "c.678C>T",
"hgvs_p": "p.Ile226Ile",
"transcript": "ENST00000939160.1",
"protein_id": "ENSP00000609219.1",
"transcript_support_level": null,
"aa_start": 226,
"aa_end": null,
"aa_length": 422,
"cds_start": 678,
"cds_end": null,
"cds_length": 1269,
"cdna_start": 710,
"cdna_end": null,
"cdna_length": 1514,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939160.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHKB",
"gene_hgnc_id": 1938,
"hgvs_c": "c.645C>T",
"hgvs_p": "p.Ile215Ile",
"transcript": "ENST00000885878.1",
"protein_id": "ENSP00000555937.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 411,
"cds_start": 645,
"cds_end": null,
"cds_length": 1236,
"cdna_start": 712,
"cdna_end": null,
"cdna_length": 1520,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885878.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHKB",
"gene_hgnc_id": 1938,
"hgvs_c": "c.624C>T",
"hgvs_p": "p.Ile208Ile",
"transcript": "ENST00000939159.1",
"protein_id": "ENSP00000609218.1",
"transcript_support_level": null,
"aa_start": 208,
"aa_end": null,
"aa_length": 404,
"cds_start": 624,
"cds_end": null,
"cds_length": 1215,
"cdna_start": 693,
"cdna_end": null,
"cdna_length": 1499,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939159.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHKB",
"gene_hgnc_id": 1938,
"hgvs_c": "c.618C>T",
"hgvs_p": "p.Ile206Ile",
"transcript": "ENST00000885877.1",
"protein_id": "ENSP00000555936.1",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 402,
"cds_start": 618,
"cds_end": null,
"cds_length": 1209,
"cdna_start": 690,
"cdna_end": null,
"cdna_length": 1498,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885877.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHKB",
"gene_hgnc_id": 1938,
"hgvs_c": "c.606C>T",
"hgvs_p": "p.Ile202Ile",
"transcript": "ENST00000949612.1",
"protein_id": "ENSP00000619671.1",
"transcript_support_level": null,
"aa_start": 202,
"aa_end": null,
"aa_length": 398,
"cds_start": 606,
"cds_end": null,
"cds_length": 1197,
"cdna_start": 645,
"cdna_end": null,
"cdna_length": 1453,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949612.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHKB",
"gene_hgnc_id": 1938,
"hgvs_c": "c.543C>T",
"hgvs_p": "p.Ile181Ile",
"transcript": "ENST00000885879.1",
"protein_id": "ENSP00000555938.1",
"transcript_support_level": null,
"aa_start": 181,
"aa_end": null,
"aa_length": 377,
"cds_start": 543,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 595,
"cdna_end": null,
"cdna_length": 1401,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885879.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHKB",
"gene_hgnc_id": 1938,
"hgvs_c": "c.528C>T",
"hgvs_p": "p.Ile176Ile",
"transcript": "ENST00000939157.1",
"protein_id": "ENSP00000609216.1",
"transcript_support_level": null,
"aa_start": 176,
"aa_end": null,
"aa_length": 372,
"cds_start": 528,
"cds_end": null,
"cds_length": 1119,
"cdna_start": 703,
"cdna_end": null,
"cdna_length": 1512,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939157.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHKB",
"gene_hgnc_id": 1938,
"hgvs_c": "c.495C>T",
"hgvs_p": "p.Ile165Ile",
"transcript": "ENST00000949613.1",
"protein_id": "ENSP00000619672.1",
"transcript_support_level": null,
"aa_start": 165,
"aa_end": null,
"aa_length": 361,
"cds_start": 495,
"cds_end": null,
"cds_length": 1086,
"cdna_start": 534,
"cdna_end": null,
"cdna_length": 1341,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949613.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHKB",
"gene_hgnc_id": 1938,
"hgvs_c": "c.597C>T",
"hgvs_p": "p.Ile199Ile",
"transcript": "ENST00000939161.1",
"protein_id": "ENSP00000609220.1",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 324,
"cds_start": 597,
"cds_end": null,
"cds_length": 975,
"cdna_start": 611,
"cdna_end": null,
"cdna_length": 1204,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939161.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHKB",
"gene_hgnc_id": 1938,
"hgvs_c": "c.597C>T",
"hgvs_p": "p.Ile199Ile",
"transcript": "ENST00000949611.1",
"protein_id": "ENSP00000619670.1",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 277,
"cds_start": 597,
"cds_end": null,
"cds_length": 834,
"cdna_start": 663,
"cdna_end": null,
"cdna_length": 1115,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949611.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHKB",
"gene_hgnc_id": 1938,
"hgvs_c": "c.240C>T",
"hgvs_p": "p.Ile80Ile",
"transcript": "ENST00000939158.1",
"protein_id": "ENSP00000609217.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 276,
"cds_start": 240,
"cds_end": null,
"cds_length": 831,
"cdna_start": 313,
"cdna_end": null,
"cdna_length": 1119,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939158.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "CHKB",
"gene_hgnc_id": 1938,
"hgvs_c": "c.582-229C>T",
"hgvs_p": null,
"transcript": "ENST00000885880.1",
"protein_id": "ENSP00000555939.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 363,
"cds_start": null,
"cds_end": null,
"cds_length": 1092,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1355,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885880.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHKB",
"gene_hgnc_id": 1938,
"hgvs_c": "n.746C>T",
"hgvs_p": null,
"transcript": "ENST00000463053.1",
"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": 886,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000463053.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHKB",
"gene_hgnc_id": 1938,
"hgvs_c": "n.474C>T",
"hgvs_p": null,
"transcript": "ENST00000468532.5",
"protein_id": null,
"transcript_support_level": 5,
"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": 1052,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000468532.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHKB",
"gene_hgnc_id": 1938,
"hgvs_c": "n.870C>T",
"hgvs_p": null,
"transcript": "ENST00000476289.5",
"protein_id": null,
"transcript_support_level": 5,
"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": 1010,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000476289.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHKB",
"gene_hgnc_id": 1938,
"hgvs_c": "n.1222C>T",
"hgvs_p": null,
"transcript": "ENST00000479003.5",
"protein_id": null,
"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": 2114,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000479003.5"
},
{
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHKB",
"gene_hgnc_id": 1938,
"hgvs_c": "n.592C>T",
"hgvs_p": null,
"transcript": "ENST00000484266.5",
"protein_id": null,
"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": 1401,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000484266.5"
},
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHKB",
"gene_hgnc_id": 1938,
"hgvs_c": "n.136C>T",
"hgvs_p": null,
"transcript": "ENST00000489453.1",
"protein_id": null,
"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": 722,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000489453.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHKB-CPT1B",
"gene_hgnc_id": 41998,
"hgvs_c": "n.1367C>T",
"hgvs_p": null,
"transcript": "ENST00000492556.5",
"protein_id": null,
"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": 4906,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000492556.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHKB",
"gene_hgnc_id": 1938,
"hgvs_c": "n.1256C>T",
"hgvs_p": null,
"transcript": "ENST00000492582.5",
"protein_id": null,
"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": 2069,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000492582.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHKB-CPT1B",
"gene_hgnc_id": 41998,
"hgvs_c": "n.815C>T",
"hgvs_p": null,
"transcript": "NR_027928.2",
"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": 4276,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_027928.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHKB",
"gene_hgnc_id": 1938,
"hgvs_c": "n.-42C>T",
"hgvs_p": null,
"transcript": "ENST00000471515.5",
"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": 657,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000471515.5"
}
],
"gene_symbol": "CHKB",
"gene_hgnc_id": 1938,
"dbsnp": "rs146409721",
"frequency_reference_population": 0.0006604472,
"hom_count_reference_population": 2,
"allele_count_reference_population": 1066,
"gnomad_exomes_af": 0.00069779,
"gnomad_genomes_af": 0.000302035,
"gnomad_exomes_ac": 1020,
"gnomad_genomes_ac": 46,
"gnomad_exomes_homalt": 2,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.41999998688697815,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.42,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.938,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": -19,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6_Very_Strong,BP7,BS1,BS2",
"acmg_by_gene": [
{
"score": -19,
"benign_score": 19,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6_Very_Strong",
"BP7",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_005198.5",
"gene_symbol": "CHKB",
"hgnc_id": 1938,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.597C>T",
"hgvs_p": "p.Ile199Ile"
},
{
"score": -14,
"benign_score": 14,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6_Very_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000492556.5",
"gene_symbol": "CHKB-CPT1B",
"hgnc_id": 41998,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.1367C>T",
"hgvs_p": null
}
],
"clinvar_disease": "CHKB-related disorder,Megaconial type congenital muscular dystrophy,not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2",
"phenotype_combined": "Megaconial type congenital muscular dystrophy|CHKB-related disorder|not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}