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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: 22-50530509-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=50530509&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 50530509,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001382808.1",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIMAP1B",
"gene_hgnc_id": 34388,
"hgvs_c": "c.733G>A",
"hgvs_p": "p.Ala245Thr",
"transcript": "NM_001014440.4",
"protein_id": "NP_001014440.2",
"transcript_support_level": null,
"aa_start": 245,
"aa_end": null,
"aa_length": 253,
"cds_start": 733,
"cds_end": null,
"cds_length": 762,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000329363.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001014440.4"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIMAP1B",
"gene_hgnc_id": 34388,
"hgvs_c": "c.733G>A",
"hgvs_p": "p.Ala245Thr",
"transcript": "ENST00000329363.9",
"protein_id": "ENSP00000382804.2",
"transcript_support_level": 5,
"aa_start": 245,
"aa_end": null,
"aa_length": 253,
"cds_start": 733,
"cds_end": null,
"cds_length": 762,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001014440.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000329363.9"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIMAP1B",
"gene_hgnc_id": 34388,
"hgvs_c": "c.757G>A",
"hgvs_p": "p.Ala253Thr",
"transcript": "ENST00000428989.3",
"protein_id": "ENSP00000390712.3",
"transcript_support_level": 1,
"aa_start": 253,
"aa_end": null,
"aa_length": 261,
"cds_start": 757,
"cds_end": null,
"cds_length": 786,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000428989.3"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIMAP1B",
"gene_hgnc_id": 34388,
"hgvs_c": "c.662G>A",
"hgvs_p": "p.Gly221Asp",
"transcript": "ENST00000401779.5",
"protein_id": "ENSP00000384310.1",
"transcript_support_level": 1,
"aa_start": 221,
"aa_end": null,
"aa_length": 242,
"cds_start": 662,
"cds_end": null,
"cds_length": 729,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000401779.5"
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIMAP1B",
"gene_hgnc_id": 34388,
"hgvs_c": "n.923G>A",
"hgvs_p": null,
"transcript": "ENST00000468249.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000468249.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIMAP1B",
"gene_hgnc_id": 34388,
"hgvs_c": "c.779G>A",
"hgvs_p": "p.Gly260Asp",
"transcript": "ENST00000405135.5",
"protein_id": "ENSP00000384012.1",
"transcript_support_level": 5,
"aa_start": 260,
"aa_end": null,
"aa_length": 281,
"cds_start": 779,
"cds_end": null,
"cds_length": 846,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000405135.5"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIMAP1B",
"gene_hgnc_id": 34388,
"hgvs_c": "c.757G>A",
"hgvs_p": "p.Ala253Thr",
"transcript": "NM_001382808.1",
"protein_id": "NP_001369737.1",
"transcript_support_level": null,
"aa_start": 253,
"aa_end": null,
"aa_length": 261,
"cds_start": 757,
"cds_end": null,
"cds_length": 786,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001382808.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIMAP1B",
"gene_hgnc_id": 34388,
"hgvs_c": "c.733G>A",
"hgvs_p": "p.Ala245Thr",
"transcript": "ENST00000682240.1",
"protein_id": "ENSP00000507825.1",
"transcript_support_level": null,
"aa_start": 245,
"aa_end": null,
"aa_length": 253,
"cds_start": 733,
"cds_end": null,
"cds_length": 762,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000682240.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIMAP1B",
"gene_hgnc_id": 34388,
"hgvs_c": "c.733G>A",
"hgvs_p": "p.Ala245Thr",
"transcript": "ENST00000857928.1",
"protein_id": "ENSP00000527987.1",
"transcript_support_level": null,
"aa_start": 245,
"aa_end": null,
"aa_length": 253,
"cds_start": 733,
"cds_end": null,
"cds_length": 762,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857928.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIMAP1B",
"gene_hgnc_id": 34388,
"hgvs_c": "c.733G>A",
"hgvs_p": "p.Ala245Thr",
"transcript": "ENST00000857930.1",
"protein_id": "ENSP00000527989.1",
"transcript_support_level": null,
"aa_start": 245,
"aa_end": null,
"aa_length": 253,
"cds_start": 733,
"cds_end": null,
"cds_length": 762,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857930.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIMAP1B",
"gene_hgnc_id": 34388,
"hgvs_c": "c.709G>A",
"hgvs_p": "p.Ala237Thr",
"transcript": "ENST00000857931.1",
"protein_id": "ENSP00000527990.1",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 245,
"cds_start": 709,
"cds_end": null,
"cds_length": 738,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857931.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIMAP1B",
"gene_hgnc_id": 34388,
"hgvs_c": "c.662G>A",
"hgvs_p": "p.Gly221Asp",
"transcript": "NM_001382807.1",
"protein_id": "NP_001369736.1",
"transcript_support_level": null,
"aa_start": 221,
"aa_end": null,
"aa_length": 242,
"cds_start": 662,
"cds_end": null,
"cds_length": 729,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001382807.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIMAP1B",
"gene_hgnc_id": 34388,
"hgvs_c": "c.658G>A",
"hgvs_p": "p.Ala220Thr",
"transcript": "ENST00000857929.1",
"protein_id": "ENSP00000527988.1",
"transcript_support_level": null,
"aa_start": 220,
"aa_end": null,
"aa_length": 228,
"cds_start": 658,
"cds_end": null,
"cds_length": 687,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857929.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIMAP1B",
"gene_hgnc_id": 34388,
"hgvs_c": "c.592G>A",
"hgvs_p": "p.Ala198Thr",
"transcript": "ENST00000857932.1",
"protein_id": "ENSP00000527991.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 206,
"cds_start": 592,
"cds_end": null,
"cds_length": 621,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857932.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIMAP1B",
"gene_hgnc_id": 34388,
"hgvs_c": "c.553G>A",
"hgvs_p": "p.Ala185Thr",
"transcript": "ENST00000913608.1",
"protein_id": "ENSP00000583667.1",
"transcript_support_level": null,
"aa_start": 185,
"aa_end": null,
"aa_length": 193,
"cds_start": 553,
"cds_end": null,
"cds_length": 582,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913608.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIMAP1B",
"gene_hgnc_id": 34388,
"hgvs_c": "c.529G>A",
"hgvs_p": "p.Ala177Thr",
"transcript": "NM_001410791.1",
"protein_id": "NP_001397720.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 185,
"cds_start": 529,
"cds_end": null,
"cds_length": 558,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001410791.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIMAP1B",
"gene_hgnc_id": 34388,
"hgvs_c": "c.529G>A",
"hgvs_p": "p.Ala177Thr",
"transcript": "ENST00000403326.5",
"protein_id": "ENSP00000385123.1",
"transcript_support_level": 3,
"aa_start": 177,
"aa_end": null,
"aa_length": 185,
"cds_start": 529,
"cds_end": null,
"cds_length": 558,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000403326.5"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIMAP1B",
"gene_hgnc_id": 34388,
"hgvs_c": "c.733G>A",
"hgvs_p": "p.Ala245Thr",
"transcript": "XM_047441380.1",
"protein_id": "XP_047297336.1",
"transcript_support_level": null,
"aa_start": 245,
"aa_end": null,
"aa_length": 253,
"cds_start": 733,
"cds_end": null,
"cds_length": 762,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047441380.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIMAP1B",
"gene_hgnc_id": 34388,
"hgvs_c": "c.592G>A",
"hgvs_p": "p.Ala198Thr",
"transcript": "XM_047441381.1",
"protein_id": "XP_047297337.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 206,
"cds_start": 592,
"cds_end": null,
"cds_length": 621,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047441381.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIMAP1B",
"gene_hgnc_id": 34388,
"hgvs_c": "c.*149G>A",
"hgvs_p": null,
"transcript": "XM_047441378.1",
"protein_id": "XP_047297334.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 272,
"cds_start": null,
"cds_end": null,
"cds_length": 819,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047441378.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIMAP1B",
"gene_hgnc_id": 34388,
"hgvs_c": "c.*149G>A",
"hgvs_p": null,
"transcript": "XM_047441379.1",
"protein_id": "XP_047297335.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 272,
"cds_start": null,
"cds_end": null,
"cds_length": 819,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047441379.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIMAP1B",
"gene_hgnc_id": 34388,
"hgvs_c": "c.*149G>A",
"hgvs_p": null,
"transcript": "XM_047441382.1",
"protein_id": "XP_047297338.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 204,
"cds_start": null,
"cds_end": null,
"cds_length": 615,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047441382.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TYMP",
"gene_hgnc_id": 3148,
"hgvs_c": "c.-628G>A",
"hgvs_p": null,
"transcript": "ENST00000893016.1",
"protein_id": "ENSP00000563075.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 488,
"cds_start": null,
"cds_end": null,
"cds_length": 1467,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893016.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TYMP",
"gene_hgnc_id": 3148,
"hgvs_c": "c.-616G>A",
"hgvs_p": null,
"transcript": "ENST00000893015.1",
"protein_id": "ENSP00000563074.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 467,
"cds_start": null,
"cds_end": null,
"cds_length": 1404,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893015.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIMAP1B",
"gene_hgnc_id": 34388,
"hgvs_c": "n.*30G>A",
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"transcript": "ENST00000463472.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000463472.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIMAP1B",
"gene_hgnc_id": 34388,
"hgvs_c": "n.*129G>A",
"hgvs_p": null,
"transcript": "ENST00000469660.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000469660.1"
}
],
"gene_symbol": "CIMAP1B",
"gene_hgnc_id": 34388,
"dbsnp": "rs537094680",
"frequency_reference_population": 0.00012055643,
"hom_count_reference_population": 0,
"allele_count_reference_population": 193,
"gnomad_exomes_af": 0.000120122,
"gnomad_genomes_af": 0.000124688,
"gnomad_exomes_ac": 174,
"gnomad_genomes_ac": 19,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.27755624055862427,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.073,
"revel_prediction": "Benign",
"alphamissense_score": 0.1188,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.43,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.464,
"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": -1,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4",
"acmg_by_gene": [
{
"score": -1,
"benign_score": 1,
"pathogenic_score": 0,
"criteria": [
"BP4"
],
"verdict": "Likely_benign",
"transcript": "NM_001382808.1",
"gene_symbol": "CIMAP1B",
"hgnc_id": 34388,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.757G>A",
"hgvs_p": "p.Ala253Thr"
},
{
"score": -1,
"benign_score": 1,
"pathogenic_score": 0,
"criteria": [
"BP4"
],
"verdict": "Likely_benign",
"transcript": "ENST00000893016.1",
"gene_symbol": "TYMP",
"hgnc_id": 3148,
"effects": [
"upstream_gene_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.-628G>A",
"hgvs_p": null
}
],
"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
}