← 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: 20-47259646-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=47259646&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 47259646,
"ref": "C",
"alt": "G",
"effect": "intron_variant",
"transcript": "ENST00000471951.7",
"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": 23,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "ZMYND8",
"gene_hgnc_id": 9397,
"hgvs_c": "c.1621+2642G>C",
"hgvs_p": null,
"transcript": "NM_001281775.3",
"protein_id": "NP_001268704.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1234,
"cds_start": -4,
"cds_end": null,
"cds_length": 3705,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5281,
"mane_select": "ENST00000471951.7",
"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": 23,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "ZMYND8",
"gene_hgnc_id": 9397,
"hgvs_c": "c.1621+2642G>C",
"hgvs_p": null,
"transcript": "ENST00000471951.7",
"protein_id": "ENSP00000420095.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1234,
"cds_start": -4,
"cds_end": null,
"cds_length": 3705,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5281,
"mane_select": "NM_001281775.3",
"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": 12,
"intron_rank_end": null,
"gene_symbol": "ZMYND8",
"gene_hgnc_id": 9397,
"hgvs_c": "c.1561+2642G>C",
"hgvs_p": null,
"transcript": "ENST00000446994.6",
"protein_id": "ENSP00000396725.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1214,
"cds_start": -4,
"cds_end": null,
"cds_length": 3645,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5471,
"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": 12,
"intron_rank_end": null,
"gene_symbol": "ZMYND8",
"gene_hgnc_id": 9397,
"hgvs_c": "c.1621+2642G>C",
"hgvs_p": null,
"transcript": "ENST00000461685.5",
"protein_id": "ENSP00000418210.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1188,
"cds_start": -4,
"cds_end": null,
"cds_length": 3567,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3567,
"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": 12,
"intron_rank_end": null,
"gene_symbol": "ZMYND8",
"gene_hgnc_id": 9397,
"hgvs_c": "c.1561+2642G>C",
"hgvs_p": null,
"transcript": "ENST00000311275.11",
"protein_id": "ENSP00000312237.7",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1186,
"cds_start": -4,
"cds_end": null,
"cds_length": 3561,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5362,
"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": 13,
"intron_rank_end": null,
"gene_symbol": "ZMYND8",
"gene_hgnc_id": 9397,
"hgvs_c": "c.1561+2642G>C",
"hgvs_p": null,
"transcript": "ENST00000262975.8",
"protein_id": "ENSP00000262975.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1168,
"cds_start": -4,
"cds_end": null,
"cds_length": 3507,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4139,
"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": 12,
"intron_rank_end": null,
"gene_symbol": "ZMYND8",
"gene_hgnc_id": 9397,
"hgvs_c": "c.1621+2642G>C",
"hgvs_p": null,
"transcript": "ENST00000352431.6",
"protein_id": "ENSP00000335537.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1160,
"cds_start": -4,
"cds_end": null,
"cds_length": 3483,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3832,
"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": 12,
"intron_rank_end": null,
"gene_symbol": "ZMYND8",
"gene_hgnc_id": 9397,
"hgvs_c": "c.1546+2642G>C",
"hgvs_p": null,
"transcript": "ENST00000617418.4",
"protein_id": "ENSP00000479806.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1136,
"cds_start": -4,
"cds_end": null,
"cds_length": 3411,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3411,
"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": 12,
"intron_rank_end": null,
"gene_symbol": "ZMYND8",
"gene_hgnc_id": 9397,
"hgvs_c": "c.1546+2642G>C",
"hgvs_p": null,
"transcript": "ENST00000360911.7",
"protein_id": "ENSP00000354166.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1135,
"cds_start": -4,
"cds_end": null,
"cds_length": 3408,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4991,
"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": 21,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "ZMYND8",
"gene_hgnc_id": 9397,
"hgvs_c": "c.1406-10207G>C",
"hgvs_p": null,
"transcript": "ENST00000540497.5",
"protein_id": "ENSP00000443086.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1134,
"cds_start": -4,
"cds_end": null,
"cds_length": 3405,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3405,
"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": 20,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "ZMYND8",
"gene_hgnc_id": 9397,
"hgvs_c": "c.1339+2642G>C",
"hgvs_p": null,
"transcript": "ENST00000467200.6",
"protein_id": "ENSP00000418495.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1094,
"cds_start": -4,
"cds_end": null,
"cds_length": 3285,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3634,
"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": 12,
"intron_rank_end": null,
"gene_symbol": "ZMYND8",
"gene_hgnc_id": 9397,
"hgvs_c": "c.1561+2642G>C",
"hgvs_p": null,
"transcript": "ENST00000611941.4",
"protein_id": "ENSP00000482048.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1087,
"cds_start": -4,
"cds_end": null,
"cds_length": 3264,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5090,
"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": 21,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "ZMYND8",
"gene_hgnc_id": 9397,
"hgvs_c": "c.1546+2642G>C",
"hgvs_p": null,
"transcript": "ENST00000458360.6",
"protein_id": "ENSP00000392964.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1054,
"cds_start": -4,
"cds_end": null,
"cds_length": 3165,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3729,
"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": 14,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "ZMYND8",
"gene_hgnc_id": 9397,
"hgvs_c": "n.1572+2642G>C",
"hgvs_p": null,
"transcript": "ENST00000468376.2",
"protein_id": null,
"transcript_support_level": 1,
"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": 4064,
"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": 12,
"intron_rank_end": null,
"gene_symbol": "ZMYND8",
"gene_hgnc_id": 9397,
"hgvs_c": "c.1642+2642G>C",
"hgvs_p": null,
"transcript": "NM_001363714.1",
"protein_id": "NP_001350643.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1241,
"cds_start": -4,
"cds_end": null,
"cds_length": 3726,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5295,
"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": 12,
"intron_rank_end": null,
"gene_symbol": "ZMYND8",
"gene_hgnc_id": 9397,
"hgvs_c": "c.1642+2642G>C",
"hgvs_p": null,
"transcript": "ENST00000536340.5",
"protein_id": "ENSP00000439800.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 1241,
"cds_start": -4,
"cds_end": null,
"cds_length": 3726,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5273,
"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": 13,
"intron_rank_end": null,
"gene_symbol": "ZMYND8",
"gene_hgnc_id": 9397,
"hgvs_c": "c.1561+2642G>C",
"hgvs_p": null,
"transcript": "NM_001281773.3",
"protein_id": "NP_001268702.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1214,
"cds_start": -4,
"cds_end": null,
"cds_length": 3645,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5352,
"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": 13,
"intron_rank_end": null,
"gene_symbol": "ZMYND8",
"gene_hgnc_id": 9397,
"hgvs_c": "c.1561+2642G>C",
"hgvs_p": null,
"transcript": "ENST00000355972.8",
"protein_id": "ENSP00000348246.4",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 1214,
"cds_start": -4,
"cds_end": null,
"cds_length": 3645,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5542,
"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": 12,
"intron_rank_end": null,
"gene_symbol": "ZMYND8",
"gene_hgnc_id": 9397,
"hgvs_c": "c.1621+2642G>C",
"hgvs_p": null,
"transcript": "NM_001281783.3",
"protein_id": "NP_001268712.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1206,
"cds_start": -4,
"cds_end": null,
"cds_length": 3621,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5197,
"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": 12,
"intron_rank_end": null,
"gene_symbol": "ZMYND8",
"gene_hgnc_id": 9397,
"hgvs_c": "c.1621+2642G>C",
"hgvs_p": null,
"transcript": "NM_183047.4",
"protein_id": "NP_898868.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1188,
"cds_start": -4,
"cds_end": null,
"cds_length": 3567,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5143,
"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": 14,
"intron_rank_end": null,
"gene_symbol": "ZMYND8",
"gene_hgnc_id": 9397,
"hgvs_c": "c.1561+2642G>C",
"hgvs_p": null,
"transcript": "NM_001281772.3",
"protein_id": "NP_001268701.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1186,
"cds_start": -4,
"cds_end": null,
"cds_length": 3561,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5321,
"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": 13,
"intron_rank_end": null,
"gene_symbol": "ZMYND8",
"gene_hgnc_id": 9397,
"hgvs_c": "c.1561+2642G>C",
"hgvs_p": null,
"transcript": "NM_001363741.2",
"protein_id": "NP_001350670.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1186,
"cds_start": -4,
"cds_end": null,
"cds_length": 3561,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5279,
"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": 14,
"intron_rank_end": null,
"gene_symbol": "ZMYND8",
"gene_hgnc_id": 9397,
"hgvs_c": "c.1561+2642G>C",
"hgvs_p": null,
"transcript": "ENST00000396281.8",
"protein_id": "ENSP00000379577.4",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 1186,
"cds_start": -4,
"cds_end": null,
"cds_length": 3561,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5511,
"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": 12,
"intron_rank_end": null,
"gene_symbol": "ZMYND8",
"gene_hgnc_id": 9397,
"hgvs_c": "c.1546+2642G>C",
"hgvs_p": null,
"transcript": "NM_001281778.3",
"protein_id": "NP_001268707.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1181,
"cds_start": -4,
"cds_end": null,
"cds_length": 3546,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5122,
"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": 13,
"intron_rank_end": null,
"gene_symbol": "ZMYND8",
"gene_hgnc_id": 9397,
"hgvs_c": "c.1561+2642G>C",
"hgvs_p": null,
"transcript": "NM_001281774.3",
"protein_id": "NP_001268703.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1168,
"cds_start": -4,
"cds_end": null,
"cds_length": 3507,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5214,
"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": 12,
"intron_rank_end": null,
"gene_symbol": "ZMYND8",
"gene_hgnc_id": 9397,
"hgvs_c": "c.1546+2642G>C",
"hgvs_p": null,
"transcript": "NM_001281777.3",
"protein_id": "NP_001268706.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1163,
"cds_start": -4,
"cds_end": null,
"cds_length": 3492,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5068,
"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": 12,
"intron_rank_end": null,
"gene_symbol": "ZMYND8",
"gene_hgnc_id": 9397,
"hgvs_c": "c.1621+2642G>C",
"hgvs_p": null,
"transcript": "NM_012408.6",
"protein_id": "NP_036540.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1160,
"cds_start": -4,
"cds_end": null,
"cds_length": 3483,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5059,
"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": 12,
"intron_rank_end": null,
"gene_symbol": "ZMYND8",
"gene_hgnc_id": 9397,
"hgvs_c": "c.1546+2642G>C",
"hgvs_p": null,
"transcript": "NM_001281782.3",
"protein_id": "NP_001268711.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1136,
"cds_start": -4,
"cds_end": null,
"cds_length": 3411,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4987,
"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": 12,
"intron_rank_end": null,
"gene_symbol": "ZMYND8",
"gene_hgnc_id": 9397,
"hgvs_c": "c.1546+2642G>C",
"hgvs_p": null,
"transcript": "NM_183048.4",
"protein_id": "NP_898869.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1135,
"cds_start": -4,
"cds_end": null,
"cds_length": 3408,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4984,
"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": 21,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "ZMYND8",
"gene_hgnc_id": 9397,
"hgvs_c": "c.1406-10207G>C",
"hgvs_p": null,
"transcript": "NM_001281784.3",
"protein_id": "NP_001268713.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1134,
"cds_start": -4,
"cds_end": null,
"cds_length": 3405,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4981,
"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": 12,
"intron_rank_end": null,
"gene_symbol": "ZMYND8",
"gene_hgnc_id": 9397,
"hgvs_c": "c.1621+2642G>C",
"hgvs_p": null,
"transcript": "NM_001281776.3",
"protein_id": "NP_001268705.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1107,
"cds_start": -4,
"cds_end": null,
"cds_length": 3324,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4900,
"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": 11,
"intron_rank_end": null,
"gene_symbol": "ZMYND8",
"gene_hgnc_id": 9397,
"hgvs_c": "c.1372+2642G>C",
"hgvs_p": null,
"transcript": "ENST00000372023.7",
"protein_id": "ENSP00000361093.5",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1105,
"cds_start": -4,
"cds_end": null,
"cds_length": 3318,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5144,
"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": 21,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "ZMYND8",
"gene_hgnc_id": 9397,
"hgvs_c": "c.1406-10207G>C",
"hgvs_p": null,
"transcript": "NM_001281781.3",
"protein_id": "NP_001268710.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1088,
"cds_start": -4,
"cds_end": null,
"cds_length": 3267,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4843,
"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": 21,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "ZMYND8",
"gene_hgnc_id": 9397,
"hgvs_c": "c.1546+2642G>C",
"hgvs_p": null,
"transcript": "NM_001281771.3",
"protein_id": "NP_001268700.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1054,
"cds_start": -4,
"cds_end": null,
"cds_length": 3165,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4741,
"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": 13,
"intron_rank_end": null,
"gene_symbol": "ZMYND8",
"gene_hgnc_id": 9397,
"hgvs_c": "c.817+2642G>C",
"hgvs_p": null,
"transcript": "NM_001281779.3",
"protein_id": "NP_001268708.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 920,
"cds_start": -4,
"cds_end": null,
"cds_length": 2763,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5274,
"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": 13,
"intron_rank_end": null,
"gene_symbol": "ZMYND8",
"gene_hgnc_id": 9397,
"hgvs_c": "c.817+2642G>C",
"hgvs_p": null,
"transcript": "NM_001281780.3",
"protein_id": "NP_001268709.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 892,
"cds_start": -4,
"cds_end": null,
"cds_length": 2679,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5190,
"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": 15,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "ZMYND8",
"gene_hgnc_id": 9397,
"hgvs_c": "c.1486+2642G>C",
"hgvs_p": null,
"transcript": "ENST00000619049.4",
"protein_id": "ENSP00000479197.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 767,
"cds_start": -4,
"cds_end": null,
"cds_length": 2304,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4027,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ZMYND8",
"gene_hgnc_id": 9397,
"dbsnp": "rs11696358",
"frequency_reference_population": 0.07332352,
"hom_count_reference_population": 546,
"allele_count_reference_population": 11155,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.0733235,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 11155,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 546,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8399999737739563,
"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": -0.84,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.077,
"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": "ENST00000471951.7",
"gene_symbol": "ZMYND8",
"hgnc_id": 9397,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1621+2642G>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
}