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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: 21-43093182-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=21&pos=43093182&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "21",
"pos": 43093182,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_006758.3",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "U2AF1",
"gene_hgnc_id": 12453,
"hgvs_c": "c.643G>A",
"hgvs_p": "p.Gly215Ser",
"transcript": "NM_006758.3",
"protein_id": "NP_006749.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 240,
"cds_start": 643,
"cds_end": null,
"cds_length": 723,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000291552.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006758.3"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "U2AF1",
"gene_hgnc_id": 12453,
"hgvs_c": "c.643G>A",
"hgvs_p": "p.Gly215Ser",
"transcript": "ENST00000291552.9",
"protein_id": "ENSP00000291552.4",
"transcript_support_level": 1,
"aa_start": 215,
"aa_end": null,
"aa_length": 240,
"cds_start": 643,
"cds_end": null,
"cds_length": 723,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006758.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000291552.9"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "U2AF1",
"gene_hgnc_id": 12453,
"hgvs_c": "c.643G>A",
"hgvs_p": "p.Gly215Ser",
"transcript": "ENST00000380276.6",
"protein_id": "ENSP00000369629.2",
"transcript_support_level": 1,
"aa_start": 215,
"aa_end": null,
"aa_length": 240,
"cds_start": 643,
"cds_end": null,
"cds_length": 723,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000380276.6"
},
{
"aa_ref": "G",
"aa_alt": "S",
"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": "U2AF1",
"gene_hgnc_id": 12453,
"hgvs_c": "c.424G>A",
"hgvs_p": "p.Gly142Ser",
"transcript": "ENST00000459639.5",
"protein_id": "ENSP00000418705.1",
"transcript_support_level": 1,
"aa_start": 142,
"aa_end": null,
"aa_length": 167,
"cds_start": 424,
"cds_end": null,
"cds_length": 504,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000459639.5"
},
{
"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": "U2AF1",
"gene_hgnc_id": 12453,
"hgvs_c": "n.*482G>A",
"hgvs_p": null,
"transcript": "ENST00000464750.5",
"protein_id": "ENSP00000420672.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000464750.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "U2AF1",
"gene_hgnc_id": 12453,
"hgvs_c": "n.4468G>A",
"hgvs_p": null,
"transcript": "ENST00000475639.5",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000475639.5"
},
{
"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": "U2AF1",
"gene_hgnc_id": 12453,
"hgvs_c": "n.*482G>A",
"hgvs_p": null,
"transcript": "ENST00000464750.5",
"protein_id": "ENSP00000420672.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000464750.5"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "U2AF1",
"gene_hgnc_id": 12453,
"hgvs_c": "c.643G>A",
"hgvs_p": "p.Gly215Ser",
"transcript": "NM_001025203.1",
"protein_id": "NP_001020374.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 240,
"cds_start": 643,
"cds_end": null,
"cds_length": 723,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001025203.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "U2AF1",
"gene_hgnc_id": 12453,
"hgvs_c": "c.640G>A",
"hgvs_p": "p.Gly214Ser",
"transcript": "ENST00000887979.1",
"protein_id": "ENSP00000558038.1",
"transcript_support_level": null,
"aa_start": 214,
"aa_end": null,
"aa_length": 239,
"cds_start": 640,
"cds_end": null,
"cds_length": 720,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887979.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "U2AF1",
"gene_hgnc_id": 12453,
"hgvs_c": "c.640G>A",
"hgvs_p": "p.Gly214Ser",
"transcript": "ENST00000887981.1",
"protein_id": "ENSP00000558040.1",
"transcript_support_level": null,
"aa_start": 214,
"aa_end": null,
"aa_length": 239,
"cds_start": 640,
"cds_end": null,
"cds_length": 720,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887981.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "U2AF1",
"gene_hgnc_id": 12453,
"hgvs_c": "c.637G>A",
"hgvs_p": "p.Gly213Ser",
"transcript": "ENST00000887980.1",
"protein_id": "ENSP00000558039.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 238,
"cds_start": 637,
"cds_end": null,
"cds_length": 717,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887980.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "U2AF1",
"gene_hgnc_id": 12453,
"hgvs_c": "c.637G>A",
"hgvs_p": "p.Gly213Ser",
"transcript": "ENST00000921413.1",
"protein_id": "ENSP00000591472.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 238,
"cds_start": 637,
"cds_end": null,
"cds_length": 717,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921413.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "U2AF1",
"gene_hgnc_id": 12453,
"hgvs_c": "c.631G>A",
"hgvs_p": "p.Gly211Ser",
"transcript": "ENST00000887978.1",
"protein_id": "ENSP00000558037.1",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 236,
"cds_start": 631,
"cds_end": null,
"cds_length": 711,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887978.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "U2AF1",
"gene_hgnc_id": 12453,
"hgvs_c": "c.622G>A",
"hgvs_p": "p.Gly208Ser",
"transcript": "ENST00000921415.1",
"protein_id": "ENSP00000591474.1",
"transcript_support_level": null,
"aa_start": 208,
"aa_end": null,
"aa_length": 233,
"cds_start": 622,
"cds_end": null,
"cds_length": 702,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921415.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"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": "U2AF1",
"gene_hgnc_id": 12453,
"hgvs_c": "c.544G>A",
"hgvs_p": "p.Gly182Ser",
"transcript": "ENST00000887982.1",
"protein_id": "ENSP00000558041.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 207,
"cds_start": 544,
"cds_end": null,
"cds_length": 624,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887982.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"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": "U2AF1",
"gene_hgnc_id": 12453,
"hgvs_c": "c.544G>A",
"hgvs_p": "p.Gly182Ser",
"transcript": "ENST00000921416.1",
"protein_id": "ENSP00000591475.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 207,
"cds_start": 544,
"cds_end": null,
"cds_length": 624,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921416.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"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": "U2AF1",
"gene_hgnc_id": 12453,
"hgvs_c": "c.526G>A",
"hgvs_p": "p.Gly176Ser",
"transcript": "ENST00000887983.1",
"protein_id": "ENSP00000558042.1",
"transcript_support_level": null,
"aa_start": 176,
"aa_end": null,
"aa_length": 201,
"cds_start": 526,
"cds_end": null,
"cds_length": 606,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887983.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"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": "U2AF1",
"gene_hgnc_id": 12453,
"hgvs_c": "c.427G>A",
"hgvs_p": "p.Gly143Ser",
"transcript": "ENST00000887984.1",
"protein_id": "ENSP00000558043.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 168,
"cds_start": 427,
"cds_end": null,
"cds_length": 507,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887984.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "U2AF1",
"gene_hgnc_id": 12453,
"hgvs_c": "c.424G>A",
"hgvs_p": "p.Gly142Ser",
"transcript": "NM_001025204.2",
"protein_id": "NP_001020375.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 167,
"cds_start": 424,
"cds_end": null,
"cds_length": 504,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001025204.2"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "U2AF1",
"gene_hgnc_id": 12453,
"hgvs_c": "c.112G>A",
"hgvs_p": "p.Gly38Ser",
"transcript": "ENST00000921414.1",
"protein_id": "ENSP00000591473.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 63,
"cds_start": 112,
"cds_end": null,
"cds_length": 192,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921414.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"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": "U2AF1",
"gene_hgnc_id": 12453,
"hgvs_c": "c.544G>A",
"hgvs_p": "p.Gly182Ser",
"transcript": "XM_011529743.4",
"protein_id": "XP_011528045.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 207,
"cds_start": 544,
"cds_end": null,
"cds_length": 624,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011529743.4"
},
{
"aa_ref": "G",
"aa_alt": "S",
"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": "U2AF1",
"gene_hgnc_id": 12453,
"hgvs_c": "c.544G>A",
"hgvs_p": "p.Gly182Ser",
"transcript": "XM_017028468.3",
"protein_id": "XP_016883957.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 207,
"cds_start": 544,
"cds_end": null,
"cds_length": 624,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017028468.3"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "U2AF1",
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"hgvs_c": "c.424G>A",
"hgvs_p": "p.Gly142Ser",
"transcript": "XM_024452129.2",
"protein_id": "XP_024307897.1",
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"aa_start": 142,
"aa_end": null,
"aa_length": 167,
"cds_start": 424,
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"cds_length": 504,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024452129.2"
},
{
"aa_ref": "G",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
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"exon_count": 10,
"intron_rank": null,
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"gene_symbol": "U2AF1",
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"hgvs_c": "c.424G>A",
"hgvs_p": "p.Gly142Ser",
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"protein_id": "XP_024307898.1",
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"aa_end": null,
"aa_length": 167,
"cds_start": 424,
"cds_end": null,
"cds_length": 504,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024452130.2"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "U2AF1",
"gene_hgnc_id": 12453,
"hgvs_c": "c.424G>A",
"hgvs_p": "p.Gly142Ser",
"transcript": "XM_024452131.2",
"protein_id": "XP_024307899.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 167,
"cds_start": 424,
"cds_end": null,
"cds_length": 504,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024452131.2"
},
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "U2AF1",
"gene_hgnc_id": 12453,
"hgvs_c": "n.1450G>A",
"hgvs_p": null,
"transcript": "ENST00000471250.5",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000471250.5"
},
{
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "U2AF1",
"gene_hgnc_id": 12453,
"hgvs_c": "n.3118G>A",
"hgvs_p": null,
"transcript": "ENST00000478282.1",
"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": "ENST00000478282.1"
},
{
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "U2AF1",
"gene_hgnc_id": 12453,
"hgvs_c": "n.*476G>A",
"hgvs_p": null,
"transcript": "ENST00000486519.5",
"protein_id": "ENSP00000489632.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000486519.5"
},
{
"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": "ENSG00000295227",
"gene_hgnc_id": null,
"hgvs_c": "n.*1C>T",
"hgvs_p": null,
"transcript": "ENST00000728699.1",
"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": "ENST00000728699.1"
}
],
"gene_symbol": "U2AF1",
"gene_hgnc_id": 12453,
"dbsnp": "rs1450304522",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.32032033801078796,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.376,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1189,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.04,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 4.431,
"phylop100way_prediction": "Uncertain_significance",
"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": "PP2,BP4",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 1,
"pathogenic_score": 1,
"criteria": [
"PP2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_006758.3",
"gene_symbol": "U2AF1",
"hgnc_id": 12453,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.643G>A",
"hgvs_p": "p.Gly215Ser"
},
{
"score": -1,
"benign_score": 1,
"pathogenic_score": 0,
"criteria": [
"BP4"
],
"verdict": "Likely_benign",
"transcript": "ENST00000728699.1",
"gene_symbol": "ENSG00000295227",
"hgnc_id": null,
"effects": [
"downstream_gene_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.*1C>T",
"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
}