← 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: 22-19041137-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=19041137&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 19041137,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_005137.3",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGCR2",
"gene_hgnc_id": 2845,
"hgvs_c": "c.1317G>A",
"hgvs_p": "p.Pro439Pro",
"transcript": "NM_005137.3",
"protein_id": "NP_005128.1",
"transcript_support_level": null,
"aa_start": 439,
"aa_end": null,
"aa_length": 550,
"cds_start": 1317,
"cds_end": null,
"cds_length": 1653,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000263196.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005137.3"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGCR2",
"gene_hgnc_id": 2845,
"hgvs_c": "c.1317G>A",
"hgvs_p": "p.Pro439Pro",
"transcript": "ENST00000263196.12",
"protein_id": "ENSP00000263196.7",
"transcript_support_level": 1,
"aa_start": 439,
"aa_end": null,
"aa_length": 550,
"cds_start": 1317,
"cds_end": null,
"cds_length": 1653,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005137.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000263196.12"
},
{
"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": "DGCR2",
"gene_hgnc_id": 2845,
"hgvs_c": "n.*888G>A",
"hgvs_p": null,
"transcript": "ENST00000389262.8",
"protein_id": "ENSP00000373914.5",
"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": "ENST00000389262.8"
},
{
"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": "DGCR2",
"gene_hgnc_id": 2845,
"hgvs_c": "n.*888G>A",
"hgvs_p": null,
"transcript": "ENST00000389262.8",
"protein_id": "ENSP00000373914.5",
"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": "ENST00000389262.8"
},
{
"aa_ref": "P",
"aa_alt": "P",
"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": "DGCR2",
"gene_hgnc_id": 2845,
"hgvs_c": "c.1449G>A",
"hgvs_p": "p.Pro483Pro",
"transcript": "ENST00000935670.1",
"protein_id": "ENSP00000605729.1",
"transcript_support_level": null,
"aa_start": 483,
"aa_end": null,
"aa_length": 594,
"cds_start": 1449,
"cds_end": null,
"cds_length": 1785,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935670.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"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": "DGCR2",
"gene_hgnc_id": 2845,
"hgvs_c": "c.1440G>A",
"hgvs_p": "p.Pro480Pro",
"transcript": "ENST00000907546.1",
"protein_id": "ENSP00000577605.1",
"transcript_support_level": null,
"aa_start": 480,
"aa_end": null,
"aa_length": 591,
"cds_start": 1440,
"cds_end": null,
"cds_length": 1776,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907546.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"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": "DGCR2",
"gene_hgnc_id": 2845,
"hgvs_c": "c.1437G>A",
"hgvs_p": "p.Pro479Pro",
"transcript": "ENST00000955016.1",
"protein_id": "ENSP00000625075.1",
"transcript_support_level": null,
"aa_start": 479,
"aa_end": null,
"aa_length": 590,
"cds_start": 1437,
"cds_end": null,
"cds_length": 1773,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955016.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGCR2",
"gene_hgnc_id": 2845,
"hgvs_c": "c.1341G>A",
"hgvs_p": "p.Pro447Pro",
"transcript": "ENST00000907547.1",
"protein_id": "ENSP00000577606.1",
"transcript_support_level": null,
"aa_start": 447,
"aa_end": null,
"aa_length": 558,
"cds_start": 1341,
"cds_end": null,
"cds_length": 1677,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907547.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGCR2",
"gene_hgnc_id": 2845,
"hgvs_c": "c.1332G>A",
"hgvs_p": "p.Pro444Pro",
"transcript": "ENST00000907549.1",
"protein_id": "ENSP00000577608.1",
"transcript_support_level": null,
"aa_start": 444,
"aa_end": null,
"aa_length": 555,
"cds_start": 1332,
"cds_end": null,
"cds_length": 1668,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907549.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGCR2",
"gene_hgnc_id": 2845,
"hgvs_c": "c.1326G>A",
"hgvs_p": "p.Pro442Pro",
"transcript": "ENST00000907539.1",
"protein_id": "ENSP00000577598.1",
"transcript_support_level": null,
"aa_start": 442,
"aa_end": null,
"aa_length": 553,
"cds_start": 1326,
"cds_end": null,
"cds_length": 1662,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907539.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGCR2",
"gene_hgnc_id": 2845,
"hgvs_c": "c.1323G>A",
"hgvs_p": "p.Pro441Pro",
"transcript": "ENST00000955010.1",
"protein_id": "ENSP00000625069.1",
"transcript_support_level": null,
"aa_start": 441,
"aa_end": null,
"aa_length": 552,
"cds_start": 1323,
"cds_end": null,
"cds_length": 1659,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955010.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGCR2",
"gene_hgnc_id": 2845,
"hgvs_c": "c.1314G>A",
"hgvs_p": "p.Pro438Pro",
"transcript": "ENST00000935666.1",
"protein_id": "ENSP00000605725.1",
"transcript_support_level": null,
"aa_start": 438,
"aa_end": null,
"aa_length": 549,
"cds_start": 1314,
"cds_end": null,
"cds_length": 1650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935666.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGCR2",
"gene_hgnc_id": 2845,
"hgvs_c": "c.1308G>A",
"hgvs_p": "p.Pro436Pro",
"transcript": "NM_001184781.2",
"protein_id": "NP_001171710.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 547,
"cds_start": 1308,
"cds_end": null,
"cds_length": 1644,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001184781.2"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGCR2",
"gene_hgnc_id": 2845,
"hgvs_c": "c.1308G>A",
"hgvs_p": "p.Pro436Pro",
"transcript": "ENST00000907534.1",
"protein_id": "ENSP00000577593.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 547,
"cds_start": 1308,
"cds_end": null,
"cds_length": 1644,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907534.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGCR2",
"gene_hgnc_id": 2845,
"hgvs_c": "c.1308G>A",
"hgvs_p": "p.Pro436Pro",
"transcript": "ENST00000907548.1",
"protein_id": "ENSP00000577607.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 547,
"cds_start": 1308,
"cds_end": null,
"cds_length": 1644,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907548.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGCR2",
"gene_hgnc_id": 2845,
"hgvs_c": "c.1305G>A",
"hgvs_p": "p.Pro435Pro",
"transcript": "ENST00000935667.1",
"protein_id": "ENSP00000605726.1",
"transcript_support_level": null,
"aa_start": 435,
"aa_end": null,
"aa_length": 546,
"cds_start": 1305,
"cds_end": null,
"cds_length": 1641,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935667.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGCR2",
"gene_hgnc_id": 2845,
"hgvs_c": "c.1299G>A",
"hgvs_p": "p.Pro433Pro",
"transcript": "ENST00000955012.1",
"protein_id": "ENSP00000625071.1",
"transcript_support_level": null,
"aa_start": 433,
"aa_end": null,
"aa_length": 544,
"cds_start": 1299,
"cds_end": null,
"cds_length": 1635,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955012.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGCR2",
"gene_hgnc_id": 2845,
"hgvs_c": "c.1317G>A",
"hgvs_p": "p.Pro439Pro",
"transcript": "ENST00000935669.1",
"protein_id": "ENSP00000605728.1",
"transcript_support_level": null,
"aa_start": 439,
"aa_end": null,
"aa_length": 543,
"cds_start": 1317,
"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": "ENST00000935669.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGCR2",
"gene_hgnc_id": 2845,
"hgvs_c": "c.1308G>A",
"hgvs_p": "p.Pro436Pro",
"transcript": "ENST00000907545.1",
"protein_id": "ENSP00000577604.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 540,
"cds_start": 1308,
"cds_end": null,
"cds_length": 1623,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907545.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGCR2",
"gene_hgnc_id": 2845,
"hgvs_c": "c.1194G>A",
"hgvs_p": "p.Pro398Pro",
"transcript": "NM_001173533.2",
"protein_id": "NP_001167004.1",
"transcript_support_level": null,
"aa_start": 398,
"aa_end": null,
"aa_length": 509,
"cds_start": 1194,
"cds_end": null,
"cds_length": 1530,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001173533.2"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGCR2",
"gene_hgnc_id": 2845,
"hgvs_c": "c.1194G>A",
"hgvs_p": "p.Pro398Pro",
"transcript": "ENST00000537045.5",
"protein_id": "ENSP00000440062.1",
"transcript_support_level": 2,
"aa_start": 398,
"aa_end": null,
"aa_length": 509,
"cds_start": 1194,
"cds_end": null,
"cds_length": 1530,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000537045.5"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGCR2",
"gene_hgnc_id": 2845,
"hgvs_c": "c.1185G>A",
"hgvs_p": "p.Pro395Pro",
"transcript": "NM_001173534.2",
"protein_id": "NP_001167005.1",
"transcript_support_level": null,
"aa_start": 395,
"aa_end": null,
"aa_length": 506,
"cds_start": 1185,
"cds_end": null,
"cds_length": 1521,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001173534.2"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGCR2",
"gene_hgnc_id": 2845,
"hgvs_c": "c.1185G>A",
"hgvs_p": "p.Pro395Pro",
"transcript": "ENST00000907538.1",
"protein_id": "ENSP00000577597.1",
"transcript_support_level": null,
"aa_start": 395,
"aa_end": null,
"aa_length": 506,
"cds_start": 1185,
"cds_end": null,
"cds_length": 1521,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907538.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGCR2",
"gene_hgnc_id": 2845,
"hgvs_c": "c.1182G>A",
"hgvs_p": "p.Pro394Pro",
"transcript": "ENST00000907544.1",
"protein_id": "ENSP00000577603.1",
"transcript_support_level": null,
"aa_start": 394,
"aa_end": null,
"aa_length": 505,
"cds_start": 1182,
"cds_end": null,
"cds_length": 1518,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907544.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGCR2",
"gene_hgnc_id": 2845,
"hgvs_c": "c.1140G>A",
"hgvs_p": "p.Pro380Pro",
"transcript": "ENST00000907535.1",
"protein_id": "ENSP00000577594.1",
"transcript_support_level": null,
"aa_start": 380,
"aa_end": null,
"aa_length": 491,
"cds_start": 1140,
"cds_end": null,
"cds_length": 1476,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907535.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGCR2",
"gene_hgnc_id": 2845,
"hgvs_c": "c.1131G>A",
"hgvs_p": "p.Pro377Pro",
"transcript": "ENST00000907542.1",
"protein_id": "ENSP00000577601.1",
"transcript_support_level": null,
"aa_start": 377,
"aa_end": null,
"aa_length": 488,
"cds_start": 1131,
"cds_end": null,
"cds_length": 1467,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907542.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGCR2",
"gene_hgnc_id": 2845,
"hgvs_c": "c.1113G>A",
"hgvs_p": "p.Pro371Pro",
"transcript": "ENST00000907540.1",
"protein_id": "ENSP00000577599.1",
"transcript_support_level": null,
"aa_start": 371,
"aa_end": null,
"aa_length": 482,
"cds_start": 1113,
"cds_end": null,
"cds_length": 1449,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907540.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGCR2",
"gene_hgnc_id": 2845,
"hgvs_c": "c.1104G>A",
"hgvs_p": "p.Pro368Pro",
"transcript": "ENST00000955009.1",
"protein_id": "ENSP00000625068.1",
"transcript_support_level": null,
"aa_start": 368,
"aa_end": null,
"aa_length": 479,
"cds_start": 1104,
"cds_end": null,
"cds_length": 1440,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955009.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGCR2",
"gene_hgnc_id": 2845,
"hgvs_c": "c.1059G>A",
"hgvs_p": "p.Pro353Pro",
"transcript": "ENST00000935668.1",
"protein_id": "ENSP00000605727.1",
"transcript_support_level": null,
"aa_start": 353,
"aa_end": null,
"aa_length": 464,
"cds_start": 1059,
"cds_end": null,
"cds_length": 1395,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935668.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGCR2",
"gene_hgnc_id": 2845,
"hgvs_c": "c.936G>A",
"hgvs_p": "p.Pro312Pro",
"transcript": "ENST00000955008.1",
"protein_id": "ENSP00000625067.1",
"transcript_support_level": null,
"aa_start": 312,
"aa_end": null,
"aa_length": 423,
"cds_start": 936,
"cds_end": null,
"cds_length": 1272,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955008.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGCR2",
"gene_hgnc_id": 2845,
"hgvs_c": "c.927G>A",
"hgvs_p": "p.Pro309Pro",
"transcript": "ENST00000955014.1",
"protein_id": "ENSP00000625073.1",
"transcript_support_level": null,
"aa_start": 309,
"aa_end": null,
"aa_length": 420,
"cds_start": 927,
"cds_end": null,
"cds_length": 1263,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955014.1"
},
{
"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": 9,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "DGCR2",
"gene_hgnc_id": 2845,
"hgvs_c": "c.1159+670G>A",
"hgvs_p": null,
"transcript": "ENST00000907541.1",
"protein_id": "ENSP00000577600.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 471,
"cds_start": null,
"cds_end": null,
"cds_length": 1416,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907541.1"
},
{
"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": 9,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "DGCR2",
"gene_hgnc_id": 2845,
"hgvs_c": "c.1150+670G>A",
"hgvs_p": null,
"transcript": "ENST00000907543.1",
"protein_id": "ENSP00000577602.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 468,
"cds_start": null,
"cds_end": null,
"cds_length": 1407,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907543.1"
},
{
"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": 8,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "DGCR2",
"gene_hgnc_id": 2845,
"hgvs_c": "c.1036+670G>A",
"hgvs_p": null,
"transcript": "ENST00000955007.1",
"protein_id": "ENSP00000625066.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 430,
"cds_start": null,
"cds_end": null,
"cds_length": 1293,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955007.1"
},
{
"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": 8,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "DGCR2",
"gene_hgnc_id": 2845,
"hgvs_c": "c.1007-2016G>A",
"hgvs_p": null,
"transcript": "ENST00000907536.1",
"protein_id": "ENSP00000577595.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 420,
"cds_start": null,
"cds_end": null,
"cds_length": 1263,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907536.1"
},
{
"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": 8,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "DGCR2",
"gene_hgnc_id": 2845,
"hgvs_c": "c.998-2016G>A",
"hgvs_p": null,
"transcript": "ENST00000907537.1",
"protein_id": "ENSP00000577596.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 417,
"cds_start": null,
"cds_end": null,
"cds_length": 1254,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907537.1"
},
{
"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": 8,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "DGCR2",
"gene_hgnc_id": 2845,
"hgvs_c": "c.982+670G>A",
"hgvs_p": null,
"transcript": "ENST00000955006.1",
"protein_id": "ENSP00000625065.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 412,
"cds_start": null,
"cds_end": null,
"cds_length": 1239,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955006.1"
},
{
"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": 8,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "DGCR2",
"gene_hgnc_id": 2845,
"hgvs_c": "c.973+670G>A",
"hgvs_p": null,
"transcript": "ENST00000955013.1",
"protein_id": "ENSP00000625072.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 409,
"cds_start": null,
"cds_end": null,
"cds_length": 1230,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955013.1"
},
{
"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": 8,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "DGCR2",
"gene_hgnc_id": 2845,
"hgvs_c": "c.955+670G>A",
"hgvs_p": null,
"transcript": "ENST00000955015.1",
"protein_id": "ENSP00000625074.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 403,
"cds_start": null,
"cds_end": null,
"cds_length": 1212,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955015.1"
},
{
"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": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "DGCR2",
"gene_hgnc_id": 2845,
"hgvs_c": "c.794-2016G>A",
"hgvs_p": null,
"transcript": "ENST00000955011.1",
"protein_id": "ENSP00000625070.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 349,
"cds_start": null,
"cds_end": null,
"cds_length": 1050,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955011.1"
},
{
"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": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "DGCR2",
"gene_hgnc_id": 2845,
"hgvs_c": "c.778+670G>A",
"hgvs_p": null,
"transcript": "ENST00000955017.1",
"protein_id": "ENSP00000625076.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 344,
"cds_start": null,
"cds_end": null,
"cds_length": 1035,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955017.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGCR2",
"gene_hgnc_id": 2845,
"hgvs_c": "n.1095G>A",
"hgvs_p": null,
"transcript": "ENST00000467659.1",
"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": "retained_intron",
"feature": "ENST00000467659.1"
},
{
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGCR2",
"gene_hgnc_id": 2845,
"hgvs_c": "n.1408G>A",
"hgvs_p": null,
"transcript": "NR_033674.2",
"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": "NR_033674.2"
}
],
"gene_symbol": "DGCR2",
"gene_hgnc_id": 2845,
"dbsnp": "rs146218436",
"frequency_reference_population": 0.0059158253,
"hom_count_reference_population": 42,
"allele_count_reference_population": 9548,
"gnomad_exomes_af": 0.0061353,
"gnomad_genomes_af": 0.00380902,
"gnomad_exomes_ac": 8968,
"gnomad_genomes_ac": 580,
"gnomad_exomes_homalt": 40,
"gnomad_genomes_homalt": 2,
"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,
"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": -2.42,
"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": -17,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BS2",
"acmg_by_gene": [
{
"score": -17,
"benign_score": 17,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_005137.3",
"gene_symbol": "DGCR2",
"hgnc_id": 2845,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1317G>A",
"hgvs_p": "p.Pro439Pro"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:1 B:2",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}