← 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: 22-37128233-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=37128233&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 37128233,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_000878.5",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL2RB",
"gene_hgnc_id": 6009,
"hgvs_c": "c.1519G>A",
"hgvs_p": "p.Glu507Lys",
"transcript": "NM_000878.5",
"protein_id": "NP_000869.1",
"transcript_support_level": null,
"aa_start": 507,
"aa_end": null,
"aa_length": 551,
"cds_start": 1519,
"cds_end": null,
"cds_length": 1656,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000216223.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000878.5"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL2RB",
"gene_hgnc_id": 6009,
"hgvs_c": "c.1519G>A",
"hgvs_p": "p.Glu507Lys",
"transcript": "ENST00000216223.10",
"protein_id": "ENSP00000216223.5",
"transcript_support_level": 1,
"aa_start": 507,
"aa_end": null,
"aa_length": 551,
"cds_start": 1519,
"cds_end": null,
"cds_length": 1656,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000878.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000216223.10"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL2RB",
"gene_hgnc_id": 6009,
"hgvs_c": "c.1537G>A",
"hgvs_p": "p.Glu513Lys",
"transcript": "ENST00000698894.2",
"protein_id": "ENSP00000514013.1",
"transcript_support_level": null,
"aa_start": 513,
"aa_end": null,
"aa_length": 557,
"cds_start": 1537,
"cds_end": null,
"cds_length": 1674,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000698894.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL2RB",
"gene_hgnc_id": 6009,
"hgvs_c": "c.1519G>A",
"hgvs_p": "p.Glu507Lys",
"transcript": "NM_001346222.1",
"protein_id": "NP_001333151.1",
"transcript_support_level": null,
"aa_start": 507,
"aa_end": null,
"aa_length": 551,
"cds_start": 1519,
"cds_end": null,
"cds_length": 1656,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001346222.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL2RB",
"gene_hgnc_id": 6009,
"hgvs_c": "c.1519G>A",
"hgvs_p": "p.Glu507Lys",
"transcript": "NM_001346223.2",
"protein_id": "NP_001333152.1",
"transcript_support_level": null,
"aa_start": 507,
"aa_end": null,
"aa_length": 551,
"cds_start": 1519,
"cds_end": null,
"cds_length": 1656,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001346223.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL2RB",
"gene_hgnc_id": 6009,
"hgvs_c": "c.1519G>A",
"hgvs_p": "p.Glu507Lys",
"transcript": "ENST00000429622.6",
"protein_id": "ENSP00000402685.2",
"transcript_support_level": 4,
"aa_start": 507,
"aa_end": null,
"aa_length": 551,
"cds_start": 1519,
"cds_end": null,
"cds_length": 1656,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000429622.6"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL2RB",
"gene_hgnc_id": 6009,
"hgvs_c": "c.1519G>A",
"hgvs_p": "p.Glu507Lys",
"transcript": "ENST00000445595.2",
"protein_id": "ENSP00000401020.2",
"transcript_support_level": 4,
"aa_start": 507,
"aa_end": null,
"aa_length": 551,
"cds_start": 1519,
"cds_end": null,
"cds_length": 1656,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000445595.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL2RB",
"gene_hgnc_id": 6009,
"hgvs_c": "c.1519G>A",
"hgvs_p": "p.Glu507Lys",
"transcript": "ENST00000453962.6",
"protein_id": "ENSP00000403731.2",
"transcript_support_level": 4,
"aa_start": 507,
"aa_end": null,
"aa_length": 551,
"cds_start": 1519,
"cds_end": null,
"cds_length": 1656,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000453962.6"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL2RB",
"gene_hgnc_id": 6009,
"hgvs_c": "c.1519G>A",
"hgvs_p": "p.Glu507Lys",
"transcript": "ENST00000698883.1",
"protein_id": "ENSP00000514005.1",
"transcript_support_level": null,
"aa_start": 507,
"aa_end": null,
"aa_length": 551,
"cds_start": 1519,
"cds_end": null,
"cds_length": 1656,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000698883.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL2RB",
"gene_hgnc_id": 6009,
"hgvs_c": "c.1519G>A",
"hgvs_p": "p.Glu507Lys",
"transcript": "ENST00000698890.1",
"protein_id": "ENSP00000514009.1",
"transcript_support_level": null,
"aa_start": 507,
"aa_end": null,
"aa_length": 551,
"cds_start": 1519,
"cds_end": null,
"cds_length": 1656,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000698890.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL2RB",
"gene_hgnc_id": 6009,
"hgvs_c": "c.1519G>A",
"hgvs_p": "p.Glu507Lys",
"transcript": "ENST00000698892.1",
"protein_id": "ENSP00000514011.1",
"transcript_support_level": null,
"aa_start": 507,
"aa_end": null,
"aa_length": 551,
"cds_start": 1519,
"cds_end": null,
"cds_length": 1656,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000698892.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL2RB",
"gene_hgnc_id": 6009,
"hgvs_c": "c.1519G>A",
"hgvs_p": "p.Glu507Lys",
"transcript": "ENST00000698893.1",
"protein_id": "ENSP00000514012.1",
"transcript_support_level": null,
"aa_start": 507,
"aa_end": null,
"aa_length": 551,
"cds_start": 1519,
"cds_end": null,
"cds_length": 1656,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000698893.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL2RB",
"gene_hgnc_id": 6009,
"hgvs_c": "c.1519G>A",
"hgvs_p": "p.Glu507Lys",
"transcript": "ENST00000858141.1",
"protein_id": "ENSP00000528200.1",
"transcript_support_level": null,
"aa_start": 507,
"aa_end": null,
"aa_length": 551,
"cds_start": 1519,
"cds_end": null,
"cds_length": 1656,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858141.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL2RB",
"gene_hgnc_id": 6009,
"hgvs_c": "c.1519G>A",
"hgvs_p": "p.Glu507Lys",
"transcript": "ENST00000858142.1",
"protein_id": "ENSP00000528201.1",
"transcript_support_level": null,
"aa_start": 507,
"aa_end": null,
"aa_length": 551,
"cds_start": 1519,
"cds_end": null,
"cds_length": 1656,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858142.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL2RB",
"gene_hgnc_id": 6009,
"hgvs_c": "c.1519G>A",
"hgvs_p": "p.Glu507Lys",
"transcript": "ENST00000858144.1",
"protein_id": "ENSP00000528203.1",
"transcript_support_level": null,
"aa_start": 507,
"aa_end": null,
"aa_length": 551,
"cds_start": 1519,
"cds_end": null,
"cds_length": 1656,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858144.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL2RB",
"gene_hgnc_id": 6009,
"hgvs_c": "c.1516G>A",
"hgvs_p": "p.Glu506Lys",
"transcript": "ENST00000698902.1",
"protein_id": "ENSP00000514017.1",
"transcript_support_level": null,
"aa_start": 506,
"aa_end": null,
"aa_length": 550,
"cds_start": 1516,
"cds_end": null,
"cds_length": 1653,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000698902.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL2RB",
"gene_hgnc_id": 6009,
"hgvs_c": "c.1516G>A",
"hgvs_p": "p.Glu506Lys",
"transcript": "ENST00000698903.1",
"protein_id": "ENSP00000514018.1",
"transcript_support_level": null,
"aa_start": 506,
"aa_end": null,
"aa_length": 550,
"cds_start": 1516,
"cds_end": null,
"cds_length": 1653,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000698903.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL2RB",
"gene_hgnc_id": 6009,
"hgvs_c": "c.1492G>A",
"hgvs_p": "p.Glu498Lys",
"transcript": "ENST00000698904.1",
"protein_id": "ENSP00000514019.1",
"transcript_support_level": null,
"aa_start": 498,
"aa_end": null,
"aa_length": 542,
"cds_start": 1492,
"cds_end": null,
"cds_length": 1629,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000698904.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL2RB",
"gene_hgnc_id": 6009,
"hgvs_c": "c.1447G>A",
"hgvs_p": "p.Glu483Lys",
"transcript": "ENST00000858143.1",
"protein_id": "ENSP00000528202.1",
"transcript_support_level": null,
"aa_start": 483,
"aa_end": null,
"aa_length": 527,
"cds_start": 1447,
"cds_end": null,
"cds_length": 1584,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858143.1"
},
{
"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": 9,
"intron_rank_end": null,
"gene_symbol": "IL2RB",
"gene_hgnc_id": 6009,
"hgvs_c": "c.903+4151G>A",
"hgvs_p": null,
"transcript": "ENST00000703410.1",
"protein_id": "ENSP00000516411.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 322,
"cds_start": null,
"cds_end": null,
"cds_length": 969,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000703410.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL2RB",
"gene_hgnc_id": 6009,
"hgvs_c": "n.*1511G>A",
"hgvs_p": null,
"transcript": "ENST00000698891.1",
"protein_id": "ENSP00000514010.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000698891.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL2RB",
"gene_hgnc_id": 6009,
"hgvs_c": "n.*1319G>A",
"hgvs_p": null,
"transcript": "ENST00000698895.1",
"protein_id": "ENSP00000514014.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000698895.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL2RB",
"gene_hgnc_id": 6009,
"hgvs_c": "n.*1278G>A",
"hgvs_p": null,
"transcript": "ENST00000698896.1",
"protein_id": "ENSP00000514015.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000698896.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL2RB",
"gene_hgnc_id": 6009,
"hgvs_c": "n.*693G>A",
"hgvs_p": null,
"transcript": "ENST00000698905.1",
"protein_id": "ENSP00000514020.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000698905.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL2RB",
"gene_hgnc_id": 6009,
"hgvs_c": "n.*1511G>A",
"hgvs_p": null,
"transcript": "ENST00000698891.1",
"protein_id": "ENSP00000514010.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000698891.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL2RB",
"gene_hgnc_id": 6009,
"hgvs_c": "n.*1319G>A",
"hgvs_p": null,
"transcript": "ENST00000698895.1",
"protein_id": "ENSP00000514014.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000698895.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL2RB",
"gene_hgnc_id": 6009,
"hgvs_c": "n.*1278G>A",
"hgvs_p": null,
"transcript": "ENST00000698896.1",
"protein_id": "ENSP00000514015.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000698896.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL2RB",
"gene_hgnc_id": 6009,
"hgvs_c": "n.*693G>A",
"hgvs_p": null,
"transcript": "ENST00000698905.1",
"protein_id": "ENSP00000514020.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000698905.1"
}
],
"gene_symbol": "IL2RB",
"gene_hgnc_id": 6009,
"dbsnp": null,
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": 0,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 0,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.15385979413986206,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.14,
"revel_prediction": "Benign",
"alphamissense_score": 0.1066,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.68,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.155,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_000878.5",
"gene_symbol": "IL2RB",
"hgnc_id": 6009,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1519G>A",
"hgvs_p": "p.Glu507Lys"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}