← 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: 11-644561-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=644561&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 644561,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_021008.4",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEAF1",
"gene_hgnc_id": 14677,
"hgvs_c": "c.1687G>A",
"hgvs_p": "p.Val563Met",
"transcript": "NM_021008.4",
"protein_id": "NP_066288.2",
"transcript_support_level": null,
"aa_start": 563,
"aa_end": null,
"aa_length": 565,
"cds_start": 1687,
"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": "V",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEAF1",
"gene_hgnc_id": 14677,
"hgvs_c": "c.1687G>A",
"hgvs_p": "p.Val563Met",
"transcript": "ENST00000382409.4",
"protein_id": "ENSP00000371846.3",
"transcript_support_level": 1,
"aa_start": 563,
"aa_end": null,
"aa_length": 565,
"cds_start": 1687,
"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": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEAF1",
"gene_hgnc_id": 14677,
"hgvs_c": "n.*247G>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": 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": "DEAF1",
"gene_hgnc_id": 14677,
"hgvs_c": "n.*247G>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": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEAF1",
"gene_hgnc_id": 14677,
"hgvs_c": "c.1813G>A",
"hgvs_p": "p.Val605Met",
"transcript": "ENST00000882097.1",
"protein_id": "ENSP00000552156.1",
"transcript_support_level": null,
"aa_start": 605,
"aa_end": null,
"aa_length": 607,
"cds_start": 1813,
"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": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEAF1",
"gene_hgnc_id": 14677,
"hgvs_c": "c.1789G>A",
"hgvs_p": "p.Val597Met",
"transcript": "ENST00000685854.1",
"protein_id": "ENSP00000508801.1",
"transcript_support_level": null,
"aa_start": 597,
"aa_end": null,
"aa_length": 599,
"cds_start": 1789,
"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": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEAF1",
"gene_hgnc_id": 14677,
"hgvs_c": "c.1684G>A",
"hgvs_p": "p.Val562Met",
"transcript": "ENST00000917805.1",
"protein_id": "ENSP00000587864.1",
"transcript_support_level": null,
"aa_start": 562,
"aa_end": null,
"aa_length": 564,
"cds_start": 1684,
"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": "V",
"aa_alt": "M",
"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": "DEAF1",
"gene_hgnc_id": 14677,
"hgvs_c": "c.1621G>A",
"hgvs_p": "p.Val541Met",
"transcript": "ENST00000942422.1",
"protein_id": "ENSP00000612481.1",
"transcript_support_level": null,
"aa_start": 541,
"aa_end": null,
"aa_length": 543,
"cds_start": 1621,
"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": "V",
"aa_alt": "M",
"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": "DEAF1",
"gene_hgnc_id": 14677,
"hgvs_c": "c.1597G>A",
"hgvs_p": "p.Val533Met",
"transcript": "NM_001440883.1",
"protein_id": "NP_001427812.1",
"transcript_support_level": null,
"aa_start": 533,
"aa_end": null,
"aa_length": 535,
"cds_start": 1597,
"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": "V",
"aa_alt": "M",
"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": "DEAF1",
"gene_hgnc_id": 14677,
"hgvs_c": "c.1597G>A",
"hgvs_p": "p.Val533Met",
"transcript": "ENST00000917806.1",
"protein_id": "ENSP00000587865.1",
"transcript_support_level": null,
"aa_start": 533,
"aa_end": null,
"aa_length": 535,
"cds_start": 1597,
"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": "V",
"aa_alt": "M",
"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": "DEAF1",
"gene_hgnc_id": 14677,
"hgvs_c": "c.1558G>A",
"hgvs_p": "p.Val520Met",
"transcript": "NM_001440884.1",
"protein_id": "NP_001427813.1",
"transcript_support_level": null,
"aa_start": 520,
"aa_end": null,
"aa_length": 522,
"cds_start": 1558,
"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": "V",
"aa_alt": "M",
"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": "DEAF1",
"gene_hgnc_id": 14677,
"hgvs_c": "c.1537G>A",
"hgvs_p": "p.Val513Met",
"transcript": "ENST00000942421.1",
"protein_id": "ENSP00000612480.1",
"transcript_support_level": null,
"aa_start": 513,
"aa_end": null,
"aa_length": 515,
"cds_start": 1537,
"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": "V",
"aa_alt": "M",
"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": "DEAF1",
"gene_hgnc_id": 14677,
"hgvs_c": "c.1462G>A",
"hgvs_p": "p.Val488Met",
"transcript": "NM_001293634.2",
"protein_id": "NP_001280563.1",
"transcript_support_level": null,
"aa_start": 488,
"aa_end": null,
"aa_length": 490,
"cds_start": 1462,
"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": "V",
"aa_alt": "M",
"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": "DEAF1",
"gene_hgnc_id": 14677,
"hgvs_c": "c.1354G>A",
"hgvs_p": "p.Val452Met",
"transcript": "ENST00000690068.1",
"protein_id": "ENSP00000509089.1",
"transcript_support_level": null,
"aa_start": 452,
"aa_end": null,
"aa_length": 454,
"cds_start": 1354,
"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": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEAF1",
"gene_hgnc_id": 14677,
"hgvs_c": "c.961G>A",
"hgvs_p": "p.Val321Met",
"transcript": "NM_001367390.1",
"protein_id": "NP_001354319.1",
"transcript_support_level": null,
"aa_start": 321,
"aa_end": null,
"aa_length": 323,
"cds_start": 961,
"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": "V",
"aa_alt": "M",
"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": "DEAF1",
"gene_hgnc_id": 14677,
"hgvs_c": "c.961G>A",
"hgvs_p": "p.Val321Met",
"transcript": "NM_001440885.1",
"protein_id": "NP_001427814.1",
"transcript_support_level": null,
"aa_start": 321,
"aa_end": null,
"aa_length": 323,
"cds_start": 961,
"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": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEAF1",
"gene_hgnc_id": 14677,
"hgvs_c": "c.961G>A",
"hgvs_p": "p.Val321Met",
"transcript": "NM_001440886.1",
"protein_id": "NP_001427815.1",
"transcript_support_level": null,
"aa_start": 321,
"aa_end": null,
"aa_length": 323,
"cds_start": 961,
"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": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEAF1",
"gene_hgnc_id": 14677,
"hgvs_c": "c.961G>A",
"hgvs_p": "p.Val321Met",
"transcript": "NM_001440887.1",
"protein_id": "NP_001427816.1",
"transcript_support_level": null,
"aa_start": 321,
"aa_end": null,
"aa_length": 323,
"cds_start": 961,
"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": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEAF1",
"gene_hgnc_id": 14677,
"hgvs_c": "c.961G>A",
"hgvs_p": "p.Val321Met",
"transcript": "ENST00000683307.1",
"protein_id": "ENSP00000507198.1",
"transcript_support_level": null,
"aa_start": 321,
"aa_end": null,
"aa_length": 323,
"cds_start": 961,
"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": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEAF1",
"gene_hgnc_id": 14677,
"hgvs_c": "c.*132G>A",
"hgvs_p": null,
"transcript": "ENST00000686001.1",
"protein_id": "ENSP00000508459.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 489,
"cds_start": null,
"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": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEAF1",
"gene_hgnc_id": 14677,
"hgvs_c": "n.1572G>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": 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.364G>A",
"hgvs_p": null,
"transcript": "ENST00000527658.1",
"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": "ENST00000527658.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEAF1",
"gene_hgnc_id": 14677,
"hgvs_c": "n.1573G>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": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEAF1",
"gene_hgnc_id": 14677,
"hgvs_c": "n.1447G>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": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEAF1",
"gene_hgnc_id": 14677,
"hgvs_c": "n.*522G>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": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEAF1",
"gene_hgnc_id": 14677,
"hgvs_c": "n.*432G>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": [
"3_prime_UTR_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEAF1",
"gene_hgnc_id": 14677,
"hgvs_c": "n.*522G>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": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEAF1",
"gene_hgnc_id": 14677,
"hgvs_c": "n.*432G>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"
}
],
"gene_symbol": "DEAF1",
"gene_hgnc_id": 14677,
"dbsnp": "rs148729216",
"frequency_reference_population": 0.00006262603,
"hom_count_reference_population": 0,
"allele_count_reference_population": 101,
"gnomad_exomes_af": 0.0000616195,
"gnomad_genomes_af": 0.0000722866,
"gnomad_exomes_ac": 90,
"gnomad_genomes_ac": 11,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.12967059016227722,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.224,
"revel_prediction": "Benign",
"alphamissense_score": 0.2672,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.2,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 6.697,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BP6_Moderate",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_021008.4",
"gene_symbol": "DEAF1",
"hgnc_id": 14677,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR,SD",
"hgvs_c": "c.1687G>A",
"hgvs_p": "p.Val563Met"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}