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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: 5-119071605-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=119071605&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 119071605,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_001290321.3",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMXL1",
"gene_hgnc_id": 2937,
"hgvs_c": "c.36C>T",
"hgvs_p": "p.Asn12Asn",
"transcript": "NM_001290321.3",
"protein_id": "NP_001277250.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 3048,
"cds_start": 36,
"cds_end": null,
"cds_length": 9147,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000539542.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001290321.3"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMXL1",
"gene_hgnc_id": 2937,
"hgvs_c": "c.36C>T",
"hgvs_p": "p.Asn12Asn",
"transcript": "ENST00000539542.6",
"protein_id": "ENSP00000439479.1",
"transcript_support_level": 1,
"aa_start": 12,
"aa_end": null,
"aa_length": 3048,
"cds_start": 36,
"cds_end": null,
"cds_length": 9147,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001290321.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000539542.6"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMXL1",
"gene_hgnc_id": 2937,
"hgvs_c": "c.36C>T",
"hgvs_p": "p.Asn12Asn",
"transcript": "ENST00000311085.8",
"protein_id": "ENSP00000309690.8",
"transcript_support_level": 1,
"aa_start": 12,
"aa_end": null,
"aa_length": 3027,
"cds_start": 36,
"cds_end": null,
"cds_length": 9084,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000311085.8"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMXL1",
"gene_hgnc_id": 2937,
"hgvs_c": "c.36C>T",
"hgvs_p": "p.Asn12Asn",
"transcript": "ENST00000503802.5",
"protein_id": "ENSP00000427692.1",
"transcript_support_level": 1,
"aa_start": 12,
"aa_end": null,
"aa_length": 588,
"cds_start": 36,
"cds_end": null,
"cds_length": 1767,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000503802.5"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMXL1",
"gene_hgnc_id": 2937,
"hgvs_c": "c.36C>T",
"hgvs_p": "p.Asn12Asn",
"transcript": "NM_001349239.2",
"protein_id": "NP_001336168.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 3048,
"cds_start": 36,
"cds_end": null,
"cds_length": 9147,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349239.2"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMXL1",
"gene_hgnc_id": 2937,
"hgvs_c": "c.36C>T",
"hgvs_p": "p.Asn12Asn",
"transcript": "NM_001349240.2",
"protein_id": "NP_001336169.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 3027,
"cds_start": 36,
"cds_end": null,
"cds_length": 9084,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349240.2"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMXL1",
"gene_hgnc_id": 2937,
"hgvs_c": "c.36C>T",
"hgvs_p": "p.Asn12Asn",
"transcript": "NM_001387933.1",
"protein_id": "NP_001374862.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 3027,
"cds_start": 36,
"cds_end": null,
"cds_length": 9084,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387933.1"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMXL1",
"gene_hgnc_id": 2937,
"hgvs_c": "c.36C>T",
"hgvs_p": "p.Asn12Asn",
"transcript": "NM_005509.6",
"protein_id": "NP_005500.4",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 3027,
"cds_start": 36,
"cds_end": null,
"cds_length": 9084,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005509.6"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMXL1",
"gene_hgnc_id": 2937,
"hgvs_c": "c.36C>T",
"hgvs_p": "p.Asn12Asn",
"transcript": "NM_001387934.1",
"protein_id": "NP_001374863.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 2963,
"cds_start": 36,
"cds_end": null,
"cds_length": 8892,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387934.1"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMXL1",
"gene_hgnc_id": 2937,
"hgvs_c": "c.36C>T",
"hgvs_p": "p.Asn12Asn",
"transcript": "NM_001387937.1",
"protein_id": "NP_001374866.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 2792,
"cds_start": 36,
"cds_end": null,
"cds_length": 8379,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387937.1"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMXL1",
"gene_hgnc_id": 2937,
"hgvs_c": "c.36C>T",
"hgvs_p": "p.Asn12Asn",
"transcript": "NM_001387938.1",
"protein_id": "NP_001374867.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 2719,
"cds_start": 36,
"cds_end": null,
"cds_length": 8160,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387938.1"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMXL1",
"gene_hgnc_id": 2937,
"hgvs_c": "c.36C>T",
"hgvs_p": "p.Asn12Asn",
"transcript": "ENST00000939842.1",
"protein_id": "ENSP00000609901.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 2561,
"cds_start": 36,
"cds_end": null,
"cds_length": 7686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939842.1"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMXL1",
"gene_hgnc_id": 2937,
"hgvs_c": "c.36C>T",
"hgvs_p": "p.Asn12Asn",
"transcript": "XM_005271909.5",
"protein_id": "XP_005271966.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 3086,
"cds_start": 36,
"cds_end": null,
"cds_length": 9261,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005271909.5"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMXL1",
"gene_hgnc_id": 2937,
"hgvs_c": "c.36C>T",
"hgvs_p": "p.Asn12Asn",
"transcript": "XM_011543213.3",
"protein_id": "XP_011541515.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 3086,
"cds_start": 36,
"cds_end": null,
"cds_length": 9261,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011543213.3"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMXL1",
"gene_hgnc_id": 2937,
"hgvs_c": "c.36C>T",
"hgvs_p": "p.Asn12Asn",
"transcript": "XM_047416834.1",
"protein_id": "XP_047272790.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 3086,
"cds_start": 36,
"cds_end": null,
"cds_length": 9261,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416834.1"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMXL1",
"gene_hgnc_id": 2937,
"hgvs_c": "c.36C>T",
"hgvs_p": "p.Asn12Asn",
"transcript": "XM_005271910.6",
"protein_id": "XP_005271967.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 3065,
"cds_start": 36,
"cds_end": null,
"cds_length": 9198,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005271910.6"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMXL1",
"gene_hgnc_id": 2937,
"hgvs_c": "c.36C>T",
"hgvs_p": "p.Asn12Asn",
"transcript": "XM_047416835.1",
"protein_id": "XP_047272791.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 3027,
"cds_start": 36,
"cds_end": null,
"cds_length": 9084,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416835.1"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMXL1",
"gene_hgnc_id": 2937,
"hgvs_c": "c.36C>T",
"hgvs_p": "p.Asn12Asn",
"transcript": "XM_017009147.2",
"protein_id": "XP_016864636.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 2931,
"cds_start": 36,
"cds_end": null,
"cds_length": 8796,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017009147.2"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMXL1",
"gene_hgnc_id": 2937,
"hgvs_c": "c.36C>T",
"hgvs_p": "p.Asn12Asn",
"transcript": "XM_047416838.1",
"protein_id": "XP_047272794.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 2904,
"cds_start": 36,
"cds_end": null,
"cds_length": 8715,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416838.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMXL1",
"gene_hgnc_id": 2937,
"hgvs_c": "c.-287C>T",
"hgvs_p": null,
"transcript": "XM_005271912.3",
"protein_id": "XP_005271969.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 3020,
"cds_start": null,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005271912.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "DMXL1",
"gene_hgnc_id": 2937,
"hgvs_c": "c.-112+348C>T",
"hgvs_p": null,
"transcript": "XM_017009144.2",
"protein_id": "XP_016864633.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 3020,
"cds_start": null,
"cds_end": null,
"cds_length": 9063,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017009144.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "DMXL1",
"gene_hgnc_id": 2937,
"hgvs_c": "c.-112+508C>T",
"hgvs_p": null,
"transcript": "XM_017009145.2",
"protein_id": "XP_016864634.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 3020,
"cds_start": null,
"cds_end": null,
"cds_length": 9063,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017009145.2"
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{
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},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
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"exon_count": 5,
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"gene_symbol": "DMXL1",
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"hgvs_c": "n.77C>T",
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"biotype": "pseudogene",
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},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
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"exon_count": 42,
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"gene_symbol": "DMXL1",
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"biotype": "pseudogene",
"feature": "NR_170867.1"
},
{
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"protein_coding": false,
"strand": true,
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"non_coding_transcript_exon_variant"
],
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{
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"gene_symbol": "DMXL1",
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},
{
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"intron_variant"
],
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"gene_symbol": "DMXL1",
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"hgvs_c": "n.227-26374C>T",
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"transcript": "ENST00000509902.5",
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"biotype": "pseudogene",
"feature": "ENST00000509902.5"
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],
"gene_symbol": "DMXL1",
"gene_hgnc_id": 2937,
"dbsnp": "rs138845349",
"frequency_reference_population": 0.00085158076,
"hom_count_reference_population": 10,
"allele_count_reference_population": 1367,
"gnomad_exomes_af": 0.000571922,
"gnomad_genomes_af": 0.00352043,
"gnomad_exomes_ac": 831,
"gnomad_genomes_ac": 536,
"gnomad_exomes_homalt": 6,
"gnomad_genomes_homalt": 4,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.4399999976158142,
"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": -0.44,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.975,
"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": -9,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6_Moderate,BP7,BS2",
"acmg_by_gene": [
{
"score": -9,
"benign_score": 9,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6_Moderate",
"BP7",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001290321.3",
"gene_symbol": "DMXL1",
"hgnc_id": 2937,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.36C>T",
"hgvs_p": "p.Asn12Asn"
}
],
"clinvar_disease": "DMXL1-related disorder,not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "B:1",
"phenotype_combined": "not provided|DMXL1-related disorder",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}