← 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: 2-99831464-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=99831464&ref=T&alt=C&genome=hg38&allGenes=true"
API Response
json
{
"variants": [
{
"chr": "2",
"pos": 99831464,
"ref": "T",
"alt": "C",
"effect": "intron_variant",
"transcript": "ENST00000672756.2",
"consequences": [
{
"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": 25,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "AFF3",
"gene_hgnc_id": 6473,
"hgvs_c": "c.921+6013A>G",
"hgvs_p": null,
"transcript": "NM_001386135.1",
"protein_id": "NP_001373064.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1226,
"cds_start": -4,
"cds_end": null,
"cds_length": 3681,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10070,
"mane_select": "ENST00000672756.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "AFF3",
"gene_hgnc_id": 6473,
"hgvs_c": "c.921+6013A>G",
"hgvs_p": null,
"transcript": "ENST00000672756.2",
"protein_id": "ENSP00000500419.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1226,
"cds_start": -4,
"cds_end": null,
"cds_length": 3681,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10070,
"mane_select": "NM_001386135.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 24,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "AFF3",
"gene_hgnc_id": 6473,
"hgvs_c": "c.996+6013A>G",
"hgvs_p": null,
"transcript": "NM_001025108.2",
"protein_id": "NP_001020279.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1251,
"cds_start": -4,
"cds_end": null,
"cds_length": 3756,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9955,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 25,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "AFF3",
"gene_hgnc_id": 6473,
"hgvs_c": "c.996+6013A>G",
"hgvs_p": null,
"transcript": "ENST00000409579.5",
"protein_id": "ENSP00000386834.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1251,
"cds_start": -4,
"cds_end": null,
"cds_length": 3756,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4342,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 24,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "AFF3",
"gene_hgnc_id": 6473,
"hgvs_c": "c.921+6013A>G",
"hgvs_p": null,
"transcript": "NM_002285.3",
"protein_id": "NP_002276.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1226,
"cds_start": -4,
"cds_end": null,
"cds_length": 3681,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9987,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 24,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "AFF3",
"gene_hgnc_id": 6473,
"hgvs_c": "c.921+6013A>G",
"hgvs_p": null,
"transcript": "ENST00000317233.8",
"protein_id": "ENSP00000317421.4",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1226,
"cds_start": -4,
"cds_end": null,
"cds_length": 3681,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8135,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 23,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "AFF3",
"gene_hgnc_id": 6473,
"hgvs_c": "c.921+6013A>G",
"hgvs_p": null,
"transcript": "ENST00000409236.6",
"protein_id": "ENSP00000387207.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1226,
"cds_start": -4,
"cds_end": null,
"cds_length": 3681,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9849,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 14,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "AFF3",
"gene_hgnc_id": 6473,
"hgvs_c": "c.921+6013A>G",
"hgvs_p": null,
"transcript": "ENST00000672204.1",
"protein_id": "ENSP00000500616.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 607,
"cds_start": -4,
"cds_end": null,
"cds_length": 1824,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2060,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "AFF3",
"gene_hgnc_id": 6473,
"hgvs_c": "n.261+6013A>G",
"hgvs_p": null,
"transcript": "ENST00000430789.1",
"protein_id": "ENSP00000414099.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 730,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "AFF3",
"gene_hgnc_id": 6473,
"hgvs_c": "n.996+6013A>G",
"hgvs_p": null,
"transcript": "ENST00000672269.1",
"protein_id": "ENSP00000500310.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2488,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "AFF3",
"gene_hgnc_id": 6473,
"hgvs_c": "n.193-5528A>G",
"hgvs_p": null,
"transcript": "ENST00000673529.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 634,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000299017",
"gene_hgnc_id": null,
"hgvs_c": "n.42-766T>C",
"hgvs_p": null,
"transcript": "ENST00000759875.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 694,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 25,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "AFF3",
"gene_hgnc_id": 6473,
"hgvs_c": "c.1383+6013A>G",
"hgvs_p": null,
"transcript": "XM_024452883.2",
"protein_id": "XP_024308651.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1380,
"cds_start": -4,
"cds_end": null,
"cds_length": 4143,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 14190,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 25,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "AFF3",
"gene_hgnc_id": 6473,
"hgvs_c": "c.1383+6013A>G",
"hgvs_p": null,
"transcript": "XM_011511169.4",
"protein_id": "XP_011509471.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1379,
"cds_start": -4,
"cds_end": null,
"cds_length": 4140,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 14187,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 25,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "AFF3",
"gene_hgnc_id": 6473,
"hgvs_c": "c.1383+6013A>G",
"hgvs_p": null,
"transcript": "XM_011511171.4",
"protein_id": "XP_011509473.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1364,
"cds_start": -4,
"cds_end": null,
"cds_length": 4095,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 14141,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 24,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "AFF3",
"gene_hgnc_id": 6473,
"hgvs_c": "c.1308+6013A>G",
"hgvs_p": null,
"transcript": "XM_047444277.1",
"protein_id": "XP_047300233.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1355,
"cds_start": -4,
"cds_end": null,
"cds_length": 4068,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 14114,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 24,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "AFF3",
"gene_hgnc_id": 6473,
"hgvs_c": "c.1308+6013A>G",
"hgvs_p": null,
"transcript": "XM_047444278.1",
"protein_id": "XP_047300234.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1354,
"cds_start": -4,
"cds_end": null,
"cds_length": 4065,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 14111,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 28,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "AFF3",
"gene_hgnc_id": 6473,
"hgvs_c": "c.1191+6013A>G",
"hgvs_p": null,
"transcript": "XM_047444279.1",
"protein_id": "XP_047300235.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1316,
"cds_start": -4,
"cds_end": null,
"cds_length": 3951,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10564,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 25,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "AFF3",
"gene_hgnc_id": 6473,
"hgvs_c": "c.1152+6013A>G",
"hgvs_p": null,
"transcript": "XM_011511170.3",
"protein_id": "XP_011509472.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1303,
"cds_start": -4,
"cds_end": null,
"cds_length": 3912,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10155,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 24,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "AFF3",
"gene_hgnc_id": 6473,
"hgvs_c": "c.996+6013A>G",
"hgvs_p": null,
"transcript": "XM_011511174.4",
"protein_id": "XP_011509476.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1251,
"cds_start": -4,
"cds_end": null,
"cds_length": 3756,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9956,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 26,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "AFF3",
"gene_hgnc_id": 6473,
"hgvs_c": "c.996+6013A>G",
"hgvs_p": null,
"transcript": "XM_047444280.1",
"protein_id": "XP_047300236.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1251,
"cds_start": -4,
"cds_end": null,
"cds_length": 3756,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10314,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 26,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "AFF3",
"gene_hgnc_id": 6473,
"hgvs_c": "c.996+6013A>G",
"hgvs_p": null,
"transcript": "XM_047444281.1",
"protein_id": "XP_047300237.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1251,
"cds_start": -4,
"cds_end": null,
"cds_length": 3756,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10167,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 24,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "AFF3",
"gene_hgnc_id": 6473,
"hgvs_c": "c.996+6013A>G",
"hgvs_p": null,
"transcript": "XM_047444282.1",
"protein_id": "XP_047300238.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1250,
"cds_start": -4,
"cds_end": null,
"cds_length": 3753,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9953,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 23,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "AFF3",
"gene_hgnc_id": 6473,
"hgvs_c": "c.921+6013A>G",
"hgvs_p": null,
"transcript": "XM_005263943.5",
"protein_id": "XP_005264000.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1226,
"cds_start": -4,
"cds_end": null,
"cds_length": 3681,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9881,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 25,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "AFF3",
"gene_hgnc_id": 6473,
"hgvs_c": "c.921+6013A>G",
"hgvs_p": null,
"transcript": "XM_047444283.1",
"protein_id": "XP_047300239.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1226,
"cds_start": -4,
"cds_end": null,
"cds_length": 3681,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10239,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 23,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "AFF3",
"gene_hgnc_id": 6473,
"hgvs_c": "c.921+6013A>G",
"hgvs_p": null,
"transcript": "XM_047444284.1",
"protein_id": "XP_047300240.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1225,
"cds_start": -4,
"cds_end": null,
"cds_length": 3678,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9878,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 23,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "AFF3",
"gene_hgnc_id": 6473,
"hgvs_c": "c.921+6013A>G",
"hgvs_p": null,
"transcript": "XM_047444285.1",
"protein_id": "XP_047300241.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1210,
"cds_start": -4,
"cds_end": null,
"cds_length": 3633,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9833,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 23,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "AFF3",
"gene_hgnc_id": 6473,
"hgvs_c": "c.687+6013A>G",
"hgvs_p": null,
"transcript": "XM_047444286.1",
"protein_id": "XP_047300242.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1148,
"cds_start": -4,
"cds_end": null,
"cds_length": 3447,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9873,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 22,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "AFF3",
"gene_hgnc_id": 6473,
"hgvs_c": "c.687+6013A>G",
"hgvs_p": null,
"transcript": "XM_047444287.1",
"protein_id": "XP_047300243.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1148,
"cds_start": -4,
"cds_end": null,
"cds_length": 3447,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 23729,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "AFF3",
"gene_hgnc_id": 6473,
"dbsnp": "rs17023158",
"frequency_reference_population": 0.03448208,
"hom_count_reference_population": 141,
"allele_count_reference_population": 5251,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.0344821,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 5251,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 141,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.9800000190734863,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.98,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.389,
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000672756.2",
"gene_symbol": "AFF3",
"hgnc_id": 6473,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.921+6013A>G",
"hgvs_p": null
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000759875.1",
"gene_symbol": "ENSG00000299017",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.42-766T>C",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}