← Back to variant description
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: 3-111545079-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=111545079&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 111545079,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_198196.3",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD96",
"gene_hgnc_id": 16892,
"hgvs_c": "c.95A>G",
"hgvs_p": "p.Asn32Ser",
"transcript": "NM_005816.5",
"protein_id": "NP_005807.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 569,
"cds_start": 95,
"cds_end": null,
"cds_length": 1710,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000352690.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005816.5"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD96",
"gene_hgnc_id": 16892,
"hgvs_c": "c.95A>G",
"hgvs_p": "p.Asn32Ser",
"transcript": "ENST00000352690.9",
"protein_id": "ENSP00000342040.3",
"transcript_support_level": 1,
"aa_start": 32,
"aa_end": null,
"aa_length": 569,
"cds_start": 95,
"cds_end": null,
"cds_length": 1710,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005816.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000352690.9"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD96",
"gene_hgnc_id": 16892,
"hgvs_c": "c.95A>G",
"hgvs_p": "p.Asn32Ser",
"transcript": "ENST00000283285.10",
"protein_id": "ENSP00000283285.5",
"transcript_support_level": 1,
"aa_start": 32,
"aa_end": null,
"aa_length": 585,
"cds_start": 95,
"cds_end": null,
"cds_length": 1758,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000283285.10"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD96",
"gene_hgnc_id": 16892,
"hgvs_c": "c.95A>G",
"hgvs_p": "p.Asn32Ser",
"transcript": "ENST00000438817.6",
"protein_id": "ENSP00000389801.2",
"transcript_support_level": 1,
"aa_start": 32,
"aa_end": null,
"aa_length": 402,
"cds_start": 95,
"cds_end": null,
"cds_length": 1209,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000438817.6"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD96",
"gene_hgnc_id": 16892,
"hgvs_c": "c.95A>G",
"hgvs_p": "p.Asn32Ser",
"transcript": "NM_198196.3",
"protein_id": "NP_937839.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 585,
"cds_start": 95,
"cds_end": null,
"cds_length": 1758,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_198196.3"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD96",
"gene_hgnc_id": 16892,
"hgvs_c": "c.95A>G",
"hgvs_p": "p.Asn32Ser",
"transcript": "ENST00000862458.1",
"protein_id": "ENSP00000532517.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 582,
"cds_start": 95,
"cds_end": null,
"cds_length": 1749,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862458.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD96",
"gene_hgnc_id": 16892,
"hgvs_c": "c.95A>G",
"hgvs_p": "p.Asn32Ser",
"transcript": "NM_001410800.1",
"protein_id": "NP_001397729.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 568,
"cds_start": 95,
"cds_end": null,
"cds_length": 1707,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001410800.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD96",
"gene_hgnc_id": 16892,
"hgvs_c": "c.95A>G",
"hgvs_p": "p.Asn32Ser",
"transcript": "ENST00000862455.1",
"protein_id": "ENSP00000532514.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 568,
"cds_start": 95,
"cds_end": null,
"cds_length": 1707,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862455.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD96",
"gene_hgnc_id": 16892,
"hgvs_c": "c.95A>G",
"hgvs_p": "p.Asn32Ser",
"transcript": "ENST00000862454.1",
"protein_id": "ENSP00000532513.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 537,
"cds_start": 95,
"cds_end": null,
"cds_length": 1614,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862454.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD96",
"gene_hgnc_id": 16892,
"hgvs_c": "c.95A>G",
"hgvs_p": "p.Asn32Ser",
"transcript": "ENST00000862456.1",
"protein_id": "ENSP00000532515.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 530,
"cds_start": 95,
"cds_end": null,
"cds_length": 1593,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862456.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD96",
"gene_hgnc_id": 16892,
"hgvs_c": "c.95A>G",
"hgvs_p": "p.Asn32Ser",
"transcript": "ENST00000862457.1",
"protein_id": "ENSP00000532516.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 517,
"cds_start": 95,
"cds_end": null,
"cds_length": 1554,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862457.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD96",
"gene_hgnc_id": 16892,
"hgvs_c": "c.95A>G",
"hgvs_p": "p.Asn32Ser",
"transcript": "ENST00000862459.1",
"protein_id": "ENSP00000532518.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 505,
"cds_start": 95,
"cds_end": null,
"cds_length": 1518,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862459.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD96",
"gene_hgnc_id": 16892,
"hgvs_c": "c.95A>G",
"hgvs_p": "p.Asn32Ser",
"transcript": "ENST00000862460.1",
"protein_id": "ENSP00000532519.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 481,
"cds_start": 95,
"cds_end": null,
"cds_length": 1446,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862460.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD96",
"gene_hgnc_id": 16892,
"hgvs_c": "c.95A>G",
"hgvs_p": "p.Asn32Ser",
"transcript": "NM_001318889.2",
"protein_id": "NP_001305818.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 402,
"cds_start": 95,
"cds_end": null,
"cds_length": 1209,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318889.2"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD96",
"gene_hgnc_id": 16892,
"hgvs_c": "c.95A>G",
"hgvs_p": "p.Asn32Ser",
"transcript": "XM_006713469.4",
"protein_id": "XP_006713532.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 584,
"cds_start": 95,
"cds_end": null,
"cds_length": 1755,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006713469.4"
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD96",
"gene_hgnc_id": 16892,
"hgvs_c": "n.95A>G",
"hgvs_p": null,
"transcript": "ENST00000488054.1",
"protein_id": "ENSP00000417680.1",
"transcript_support_level": 4,
"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": "nonsense_mediated_decay",
"feature": "ENST00000488054.1"
},
{
"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": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD96",
"gene_hgnc_id": 16892,
"hgvs_c": "n.95A>G",
"hgvs_p": null,
"transcript": "ENST00000494798.2",
"protein_id": "ENSP00000417152.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000494798.2"
},
{
"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": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD96",
"gene_hgnc_id": 16892,
"hgvs_c": "n.147A>G",
"hgvs_p": null,
"transcript": "NR_134917.2",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_134917.2"
},
{
"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": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD96",
"gene_hgnc_id": 16892,
"hgvs_c": "n.147A>G",
"hgvs_p": null,
"transcript": "XR_001739977.2",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_001739977.2"
},
{
"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": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD96",
"gene_hgnc_id": 16892,
"hgvs_c": "n.147A>G",
"hgvs_p": null,
"transcript": "XR_007093273.1",
"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": "pseudogene",
"feature": "XR_007093273.1"
},
{
"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": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD96",
"gene_hgnc_id": 16892,
"hgvs_c": "n.147A>G",
"hgvs_p": null,
"transcript": "XR_007093307.1",
"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": "pseudogene",
"feature": "XR_007093307.1"
},
{
"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": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD96",
"gene_hgnc_id": 16892,
"hgvs_c": "n.147A>G",
"hgvs_p": null,
"transcript": "XR_007093316.1",
"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": "pseudogene",
"feature": "XR_007093316.1"
},
{
"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": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD96",
"gene_hgnc_id": 16892,
"hgvs_c": "n.147A>G",
"hgvs_p": null,
"transcript": "XR_007093326.1",
"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": "pseudogene",
"feature": "XR_007093326.1"
},
{
"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": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD96",
"gene_hgnc_id": 16892,
"hgvs_c": "n.147A>G",
"hgvs_p": null,
"transcript": "XR_007093335.1",
"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": "pseudogene",
"feature": "XR_007093335.1"
},
{
"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": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD96",
"gene_hgnc_id": 16892,
"hgvs_c": "n.147A>G",
"hgvs_p": null,
"transcript": "XR_007093366.1",
"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": "pseudogene",
"feature": "XR_007093366.1"
},
{
"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": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD96",
"gene_hgnc_id": 16892,
"hgvs_c": "n.147A>G",
"hgvs_p": null,
"transcript": "XR_241462.2",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_241462.2"
},
{
"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": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD96",
"gene_hgnc_id": 16892,
"hgvs_c": "n.147A>G",
"hgvs_p": null,
"transcript": "XR_924090.2",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_924090.2"
}
],
"gene_symbol": "CD96",
"gene_hgnc_id": 16892,
"dbsnp": "rs757674616",
"frequency_reference_population": 0.00008550016,
"hom_count_reference_population": 1,
"allele_count_reference_population": 138,
"gnomad_exomes_af": 0.0000909809,
"gnomad_genomes_af": 0.0000328545,
"gnomad_exomes_ac": 133,
"gnomad_genomes_ac": 5,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.00958600640296936,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.017,
"revel_prediction": "Benign",
"alphamissense_score": 0.121,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.75,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.405,
"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": "BP4_Strong",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_198196.3",
"gene_symbol": "CD96",
"hgnc_id": 16892,
"effects": [
"missense_variant"
],
"inheritance_mode": "Unknown,AD,AR",
"hgvs_c": "c.95A>G",
"hgvs_p": "p.Asn32Ser"
}
],
"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
}