← 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: 11-674638-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=674638&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 674638,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_021008.4",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEAF1",
"gene_hgnc_id": 14677,
"hgvs_c": "c.1401G>A",
"hgvs_p": "p.Ala467Ala",
"transcript": "NM_021008.4",
"protein_id": "NP_066288.2",
"transcript_support_level": null,
"aa_start": 467,
"aa_end": null,
"aa_length": 565,
"cds_start": 1401,
"cds_end": null,
"cds_length": 1698,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000382409.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_021008.4"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEAF1",
"gene_hgnc_id": 14677,
"hgvs_c": "c.1401G>A",
"hgvs_p": "p.Ala467Ala",
"transcript": "ENST00000382409.4",
"protein_id": "ENSP00000371846.3",
"transcript_support_level": 1,
"aa_start": 467,
"aa_end": null,
"aa_length": 565,
"cds_start": 1401,
"cds_end": null,
"cds_length": 1698,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_021008.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000382409.4"
},
{
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEAF1",
"gene_hgnc_id": 14677,
"hgvs_c": "n.762G>A",
"hgvs_p": null,
"transcript": "ENST00000527170.5",
"protein_id": "ENSP00000431563.1",
"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": "ENST00000527170.5"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEAF1",
"gene_hgnc_id": 14677,
"hgvs_c": "c.1527G>A",
"hgvs_p": "p.Ala509Ala",
"transcript": "ENST00000882097.1",
"protein_id": "ENSP00000552156.1",
"transcript_support_level": null,
"aa_start": 509,
"aa_end": null,
"aa_length": 607,
"cds_start": 1527,
"cds_end": null,
"cds_length": 1824,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882097.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEAF1",
"gene_hgnc_id": 14677,
"hgvs_c": "c.1197G>A",
"hgvs_p": "p.Ala399Ala",
"transcript": "ENST00000685854.1",
"protein_id": "ENSP00000508801.1",
"transcript_support_level": null,
"aa_start": 399,
"aa_end": null,
"aa_length": 599,
"cds_start": 1197,
"cds_end": null,
"cds_length": 1800,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000685854.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEAF1",
"gene_hgnc_id": 14677,
"hgvs_c": "c.1401G>A",
"hgvs_p": "p.Ala467Ala",
"transcript": "ENST00000917805.1",
"protein_id": "ENSP00000587864.1",
"transcript_support_level": null,
"aa_start": 467,
"aa_end": null,
"aa_length": 564,
"cds_start": 1401,
"cds_end": null,
"cds_length": 1695,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917805.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEAF1",
"gene_hgnc_id": 14677,
"hgvs_c": "c.1335G>A",
"hgvs_p": "p.Ala445Ala",
"transcript": "ENST00000942422.1",
"protein_id": "ENSP00000612481.1",
"transcript_support_level": null,
"aa_start": 445,
"aa_end": null,
"aa_length": 543,
"cds_start": 1335,
"cds_end": null,
"cds_length": 1632,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942422.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEAF1",
"gene_hgnc_id": 14677,
"hgvs_c": "c.1401G>A",
"hgvs_p": "p.Ala467Ala",
"transcript": "NM_001440883.1",
"protein_id": "NP_001427812.1",
"transcript_support_level": null,
"aa_start": 467,
"aa_end": null,
"aa_length": 535,
"cds_start": 1401,
"cds_end": null,
"cds_length": 1608,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440883.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEAF1",
"gene_hgnc_id": 14677,
"hgvs_c": "c.1401G>A",
"hgvs_p": "p.Ala467Ala",
"transcript": "ENST00000917806.1",
"protein_id": "ENSP00000587865.1",
"transcript_support_level": null,
"aa_start": 467,
"aa_end": null,
"aa_length": 535,
"cds_start": 1401,
"cds_end": null,
"cds_length": 1608,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917806.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEAF1",
"gene_hgnc_id": 14677,
"hgvs_c": "c.1272G>A",
"hgvs_p": "p.Ala424Ala",
"transcript": "NM_001440884.1",
"protein_id": "NP_001427813.1",
"transcript_support_level": null,
"aa_start": 424,
"aa_end": null,
"aa_length": 522,
"cds_start": 1272,
"cds_end": null,
"cds_length": 1569,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440884.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEAF1",
"gene_hgnc_id": 14677,
"hgvs_c": "c.1251G>A",
"hgvs_p": "p.Ala417Ala",
"transcript": "ENST00000942421.1",
"protein_id": "ENSP00000612480.1",
"transcript_support_level": null,
"aa_start": 417,
"aa_end": null,
"aa_length": 515,
"cds_start": 1251,
"cds_end": null,
"cds_length": 1548,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942421.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEAF1",
"gene_hgnc_id": 14677,
"hgvs_c": "c.1134G>A",
"hgvs_p": "p.Ala378Ala",
"transcript": "NM_001293634.2",
"protein_id": "NP_001280563.1",
"transcript_support_level": null,
"aa_start": 378,
"aa_end": null,
"aa_length": 490,
"cds_start": 1134,
"cds_end": null,
"cds_length": 1473,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001293634.2"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEAF1",
"gene_hgnc_id": 14677,
"hgvs_c": "c.1197G>A",
"hgvs_p": "p.Ala399Ala",
"transcript": "ENST00000686001.1",
"protein_id": "ENSP00000508459.1",
"transcript_support_level": null,
"aa_start": 399,
"aa_end": null,
"aa_length": 489,
"cds_start": 1197,
"cds_end": null,
"cds_length": 1470,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000686001.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEAF1",
"gene_hgnc_id": 14677,
"hgvs_c": "c.1197G>A",
"hgvs_p": "p.Ala399Ala",
"transcript": "ENST00000689835.1",
"protein_id": "ENSP00000510621.1",
"transcript_support_level": null,
"aa_start": 399,
"aa_end": null,
"aa_length": 470,
"cds_start": 1197,
"cds_end": null,
"cds_length": 1413,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000689835.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEAF1",
"gene_hgnc_id": 14677,
"hgvs_c": "c.1068G>A",
"hgvs_p": "p.Ala356Ala",
"transcript": "ENST00000690068.1",
"protein_id": "ENSP00000509089.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 454,
"cds_start": 1068,
"cds_end": null,
"cds_length": 1365,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000690068.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEAF1",
"gene_hgnc_id": 14677,
"hgvs_c": "c.675G>A",
"hgvs_p": "p.Ala225Ala",
"transcript": "NM_001367390.1",
"protein_id": "NP_001354319.1",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 323,
"cds_start": 675,
"cds_end": null,
"cds_length": 972,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001367390.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEAF1",
"gene_hgnc_id": 14677,
"hgvs_c": "c.675G>A",
"hgvs_p": "p.Ala225Ala",
"transcript": "NM_001440885.1",
"protein_id": "NP_001427814.1",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 323,
"cds_start": 675,
"cds_end": null,
"cds_length": 972,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440885.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEAF1",
"gene_hgnc_id": 14677,
"hgvs_c": "c.675G>A",
"hgvs_p": "p.Ala225Ala",
"transcript": "NM_001440886.1",
"protein_id": "NP_001427815.1",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 323,
"cds_start": 675,
"cds_end": null,
"cds_length": 972,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440886.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEAF1",
"gene_hgnc_id": 14677,
"hgvs_c": "c.675G>A",
"hgvs_p": "p.Ala225Ala",
"transcript": "NM_001440887.1",
"protein_id": "NP_001427816.1",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 323,
"cds_start": 675,
"cds_end": null,
"cds_length": 972,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440887.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEAF1",
"gene_hgnc_id": 14677,
"hgvs_c": "c.675G>A",
"hgvs_p": "p.Ala225Ala",
"transcript": "ENST00000683307.1",
"protein_id": "ENSP00000507198.1",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 323,
"cds_start": 675,
"cds_end": null,
"cds_length": 972,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000683307.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEAF1",
"gene_hgnc_id": 14677,
"hgvs_c": "c.1401G>A",
"hgvs_p": "p.Ala467Ala",
"transcript": "XM_047426248.1",
"protein_id": "XP_047282204.1",
"transcript_support_level": null,
"aa_start": 467,
"aa_end": null,
"aa_length": 561,
"cds_start": 1401,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047426248.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEAF1",
"gene_hgnc_id": 14677,
"hgvs_c": "c.1401G>A",
"hgvs_p": "p.Ala467Ala",
"transcript": "XM_011519842.4",
"protein_id": "XP_011518144.1",
"transcript_support_level": null,
"aa_start": 467,
"aa_end": null,
"aa_length": 551,
"cds_start": 1401,
"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": "XM_011519842.4"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEAF1",
"gene_hgnc_id": 14677,
"hgvs_c": "c.1401G>A",
"hgvs_p": "p.Ala467Ala",
"transcript": "XM_047426249.1",
"protein_id": "XP_047282205.1",
"transcript_support_level": null,
"aa_start": 467,
"aa_end": null,
"aa_length": 539,
"cds_start": 1401,
"cds_end": null,
"cds_length": 1620,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047426249.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEAF1",
"gene_hgnc_id": 14677,
"hgvs_c": "c.675G>A",
"hgvs_p": "p.Ala225Ala",
"transcript": "XM_047426250.1",
"protein_id": "XP_047282206.1",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 309,
"cds_start": 675,
"cds_end": null,
"cds_length": 930,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047426250.1"
},
{
"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": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEAF1",
"gene_hgnc_id": 14677,
"hgvs_c": "n.1286G>A",
"hgvs_p": null,
"transcript": "ENST00000525626.6",
"protein_id": null,
"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": "pseudogene",
"feature": "ENST00000525626.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEAF1",
"gene_hgnc_id": 14677,
"hgvs_c": "n.584G>A",
"hgvs_p": null,
"transcript": "ENST00000525904.5",
"protein_id": null,
"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": "pseudogene",
"feature": "ENST00000525904.5"
},
{
"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": "DEAF1",
"gene_hgnc_id": 14677,
"hgvs_c": "n.232G>A",
"hgvs_p": null,
"transcript": "ENST00000526790.1",
"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": "ENST00000526790.1"
},
{
"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": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEAF1",
"gene_hgnc_id": 14677,
"hgvs_c": "n.1287G>A",
"hgvs_p": null,
"transcript": "ENST00000528864.6",
"protein_id": null,
"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": "pseudogene",
"feature": "ENST00000528864.6"
},
{
"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": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEAF1",
"gene_hgnc_id": 14677,
"hgvs_c": "n.*1024G>A",
"hgvs_p": null,
"transcript": "ENST00000530813.2",
"protein_id": "ENSP00000508507.1",
"transcript_support_level": 5,
"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": "ENST00000530813.2"
},
{
"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": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEAF1",
"gene_hgnc_id": 14677,
"hgvs_c": "n.1161G>A",
"hgvs_p": null,
"transcript": "ENST00000682936.1",
"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": "retained_intron",
"feature": "ENST00000682936.1"
},
{
"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": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEAF1",
"gene_hgnc_id": 14677,
"hgvs_c": "n.1197G>A",
"hgvs_p": null,
"transcript": "ENST00000687329.1",
"protein_id": "ENSP00000510598.1",
"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": "ENST00000687329.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEAF1",
"gene_hgnc_id": 14677,
"hgvs_c": "n.*146G>A",
"hgvs_p": null,
"transcript": "ENST00000692634.1",
"protein_id": "ENSP00000508859.1",
"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": "ENST00000692634.1"
},
{
"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": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEAF1",
"gene_hgnc_id": 14677,
"hgvs_c": "n.1576G>A",
"hgvs_p": null,
"transcript": "XR_007062436.1",
"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_007062436.1"
},
{
"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": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEAF1",
"gene_hgnc_id": 14677,
"hgvs_c": "n.1342G>A",
"hgvs_p": null,
"transcript": "XR_007062437.1",
"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_007062437.1"
},
{
"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": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEAF1",
"gene_hgnc_id": 14677,
"hgvs_c": "n.*1024G>A",
"hgvs_p": null,
"transcript": "ENST00000530813.2",
"protein_id": "ENSP00000508507.1",
"transcript_support_level": 5,
"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": "ENST00000530813.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEAF1",
"gene_hgnc_id": 14677,
"hgvs_c": "n.*146G>A",
"hgvs_p": null,
"transcript": "ENST00000692634.1",
"protein_id": "ENSP00000508859.1",
"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": "ENST00000692634.1"
},
{
"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": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000255158",
"gene_hgnc_id": null,
"hgvs_c": "n.843+379C>T",
"hgvs_p": null,
"transcript": "ENST00000527799.1",
"protein_id": null,
"transcript_support_level": 5,
"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": "ENST00000527799.1"
}
],
"gene_symbol": "DEAF1",
"gene_hgnc_id": 14677,
"dbsnp": "rs35303725",
"frequency_reference_population": 0.018858362,
"hom_count_reference_population": 536,
"allele_count_reference_population": 30440,
"gnomad_exomes_af": 0.0193212,
"gnomad_genomes_af": 0.0144164,
"gnomad_exomes_ac": 28244,
"gnomad_genomes_ac": 2196,
"gnomad_exomes_homalt": 502,
"gnomad_genomes_homalt": 34,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.6899999976158142,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.69,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -3.783,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"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": -21,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BA1",
"acmg_by_gene": [
{
"score": -21,
"benign_score": 21,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_021008.4",
"gene_symbol": "DEAF1",
"hgnc_id": 14677,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD,AR,SD",
"hgvs_c": "c.1401G>A",
"hgvs_p": "p.Ala467Ala"
},
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000527799.1",
"gene_symbol": "ENSG00000255158",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.843+379C>T",
"hgvs_p": null
}
],
"clinvar_disease": "not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:4",
"phenotype_combined": "not provided|not specified",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}