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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: X-154405479-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=154405479&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 154405479,
"ref": "T",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "NM_006730.4",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNASE1L1",
"gene_hgnc_id": 2957,
"hgvs_c": "c.90A>G",
"hgvs_p": "p.Thr30Thr",
"transcript": "NM_001303620.2",
"protein_id": "NP_001290549.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 302,
"cds_start": 90,
"cds_end": null,
"cds_length": 909,
"cdna_start": 320,
"cdna_end": null,
"cdna_length": 2610,
"mane_select": "ENST00000369807.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001303620.2"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNASE1L1",
"gene_hgnc_id": 2957,
"hgvs_c": "c.90A>G",
"hgvs_p": "p.Thr30Thr",
"transcript": "ENST00000369807.6",
"protein_id": "ENSP00000358822.1",
"transcript_support_level": 1,
"aa_start": 30,
"aa_end": null,
"aa_length": 302,
"cds_start": 90,
"cds_end": null,
"cds_length": 909,
"cdna_start": 320,
"cdna_end": null,
"cdna_length": 2610,
"mane_select": "NM_001303620.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000369807.6"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNASE1L1",
"gene_hgnc_id": 2957,
"hgvs_c": "c.90A>G",
"hgvs_p": "p.Thr30Thr",
"transcript": "ENST00000309585.9",
"protein_id": "ENSP00000309168.5",
"transcript_support_level": 1,
"aa_start": 30,
"aa_end": null,
"aa_length": 302,
"cds_start": 90,
"cds_end": null,
"cds_length": 909,
"cdna_start": 484,
"cdna_end": null,
"cdna_length": 2249,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000309585.9"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNASE1L1",
"gene_hgnc_id": 2957,
"hgvs_c": "c.90A>G",
"hgvs_p": "p.Thr30Thr",
"transcript": "ENST00000369808.7",
"protein_id": "ENSP00000358823.3",
"transcript_support_level": 1,
"aa_start": 30,
"aa_end": null,
"aa_length": 302,
"cds_start": 90,
"cds_end": null,
"cds_length": 909,
"cdna_start": 898,
"cdna_end": null,
"cdna_length": 2666,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000369808.7"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNASE1L1",
"gene_hgnc_id": 2957,
"hgvs_c": "c.90A>G",
"hgvs_p": "p.Thr30Thr",
"transcript": "ENST00000862494.1",
"protein_id": "ENSP00000532553.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 322,
"cds_start": 90,
"cds_end": null,
"cds_length": 969,
"cdna_start": 320,
"cdna_end": null,
"cdna_length": 2152,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862494.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNASE1L1",
"gene_hgnc_id": 2957,
"hgvs_c": "c.90A>G",
"hgvs_p": "p.Thr30Thr",
"transcript": "NM_001009932.3",
"protein_id": "NP_001009932.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 302,
"cds_start": 90,
"cds_end": null,
"cds_length": 909,
"cdna_start": 731,
"cdna_end": null,
"cdna_length": 3021,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001009932.3"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNASE1L1",
"gene_hgnc_id": 2957,
"hgvs_c": "c.90A>G",
"hgvs_p": "p.Thr30Thr",
"transcript": "NM_001009933.3",
"protein_id": "NP_001009933.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 302,
"cds_start": 90,
"cds_end": null,
"cds_length": 909,
"cdna_start": 473,
"cdna_end": null,
"cdna_length": 2763,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001009933.3"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNASE1L1",
"gene_hgnc_id": 2957,
"hgvs_c": "c.90A>G",
"hgvs_p": "p.Thr30Thr",
"transcript": "NM_001009934.3",
"protein_id": "NP_001009934.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 302,
"cds_start": 90,
"cds_end": null,
"cds_length": 909,
"cdna_start": 388,
"cdna_end": null,
"cdna_length": 2678,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001009934.3"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNASE1L1",
"gene_hgnc_id": 2957,
"hgvs_c": "c.90A>G",
"hgvs_p": "p.Thr30Thr",
"transcript": "NM_006730.4",
"protein_id": "NP_006721.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 302,
"cds_start": 90,
"cds_end": null,
"cds_length": 909,
"cdna_start": 874,
"cdna_end": null,
"cdna_length": 3164,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006730.4"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNASE1L1",
"gene_hgnc_id": 2957,
"hgvs_c": "c.90A>G",
"hgvs_p": "p.Thr30Thr",
"transcript": "ENST00000014935.7",
"protein_id": "ENSP00000014935.3",
"transcript_support_level": 2,
"aa_start": 30,
"aa_end": null,
"aa_length": 302,
"cds_start": 90,
"cds_end": null,
"cds_length": 909,
"cdna_start": 884,
"cdna_end": null,
"cdna_length": 2652,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000014935.7"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNASE1L1",
"gene_hgnc_id": 2957,
"hgvs_c": "c.90A>G",
"hgvs_p": "p.Thr30Thr",
"transcript": "ENST00000369809.5",
"protein_id": "ENSP00000358824.1",
"transcript_support_level": 5,
"aa_start": 30,
"aa_end": null,
"aa_length": 302,
"cds_start": 90,
"cds_end": null,
"cds_length": 909,
"cdna_start": 720,
"cdna_end": null,
"cdna_length": 3008,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000369809.5"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNASE1L1",
"gene_hgnc_id": 2957,
"hgvs_c": "c.90A>G",
"hgvs_p": "p.Thr30Thr",
"transcript": "ENST00000393638.5",
"protein_id": "ENSP00000377255.1",
"transcript_support_level": 5,
"aa_start": 30,
"aa_end": null,
"aa_length": 302,
"cds_start": 90,
"cds_end": null,
"cds_length": 909,
"cdna_start": 377,
"cdna_end": null,
"cdna_length": 2665,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000393638.5"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNASE1L1",
"gene_hgnc_id": 2957,
"hgvs_c": "c.90A>G",
"hgvs_p": "p.Thr30Thr",
"transcript": "ENST00000862481.1",
"protein_id": "ENSP00000532540.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 302,
"cds_start": 90,
"cds_end": null,
"cds_length": 909,
"cdna_start": 734,
"cdna_end": null,
"cdna_length": 2506,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862481.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNASE1L1",
"gene_hgnc_id": 2957,
"hgvs_c": "c.90A>G",
"hgvs_p": "p.Thr30Thr",
"transcript": "ENST00000862482.1",
"protein_id": "ENSP00000532541.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 302,
"cds_start": 90,
"cds_end": null,
"cds_length": 909,
"cdna_start": 474,
"cdna_end": null,
"cdna_length": 2246,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862482.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNASE1L1",
"gene_hgnc_id": 2957,
"hgvs_c": "c.90A>G",
"hgvs_p": "p.Thr30Thr",
"transcript": "ENST00000862483.1",
"protein_id": "ENSP00000532542.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 302,
"cds_start": 90,
"cds_end": null,
"cds_length": 909,
"cdna_start": 993,
"cdna_end": null,
"cdna_length": 2765,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862483.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNASE1L1",
"gene_hgnc_id": 2957,
"hgvs_c": "c.90A>G",
"hgvs_p": "p.Thr30Thr",
"transcript": "ENST00000862484.1",
"protein_id": "ENSP00000532543.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 302,
"cds_start": 90,
"cds_end": null,
"cds_length": 909,
"cdna_start": 594,
"cdna_end": null,
"cdna_length": 2366,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862484.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNASE1L1",
"gene_hgnc_id": 2957,
"hgvs_c": "c.90A>G",
"hgvs_p": "p.Thr30Thr",
"transcript": "ENST00000862485.1",
"protein_id": "ENSP00000532544.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 302,
"cds_start": 90,
"cds_end": null,
"cds_length": 909,
"cdna_start": 942,
"cdna_end": null,
"cdna_length": 2714,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862485.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNASE1L1",
"gene_hgnc_id": 2957,
"hgvs_c": "c.90A>G",
"hgvs_p": "p.Thr30Thr",
"transcript": "ENST00000862486.1",
"protein_id": "ENSP00000532545.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 302,
"cds_start": 90,
"cds_end": null,
"cds_length": 909,
"cdna_start": 1079,
"cdna_end": null,
"cdna_length": 2851,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862486.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNASE1L1",
"gene_hgnc_id": 2957,
"hgvs_c": "c.90A>G",
"hgvs_p": "p.Thr30Thr",
"transcript": "ENST00000862487.1",
"protein_id": "ENSP00000532546.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 302,
"cds_start": 90,
"cds_end": null,
"cds_length": 909,
"cdna_start": 971,
"cdna_end": null,
"cdna_length": 2743,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862487.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNASE1L1",
"gene_hgnc_id": 2957,
"hgvs_c": "c.90A>G",
"hgvs_p": "p.Thr30Thr",
"transcript": "ENST00000862488.1",
"protein_id": "ENSP00000532547.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 302,
"cds_start": 90,
"cds_end": null,
"cds_length": 909,
"cdna_start": 683,
"cdna_end": null,
"cdna_length": 2455,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862488.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNASE1L1",
"gene_hgnc_id": 2957,
"hgvs_c": "c.90A>G",
"hgvs_p": "p.Thr30Thr",
"transcript": "ENST00000862489.1",
"protein_id": "ENSP00000532548.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 302,
"cds_start": 90,
"cds_end": null,
"cds_length": 909,
"cdna_start": 855,
"cdna_end": null,
"cdna_length": 2627,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862489.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNASE1L1",
"gene_hgnc_id": 2957,
"hgvs_c": "c.90A>G",
"hgvs_p": "p.Thr30Thr",
"transcript": "ENST00000862490.1",
"protein_id": "ENSP00000532549.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
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"biotype": "protein_coding",
"feature": "XM_047441891.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
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"exon_count": 10,
"intron_rank": null,
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"gene_symbol": "DNASE1L1",
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"transcript": "XM_047441892.1",
"protein_id": "XP_047297848.1",
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"aa_start": 30,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "XM_047441892.1"
},
{
"aa_ref": "T",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
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"exon_count": 10,
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"gene_symbol": "DNASE1L1",
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"cdna_start": 2481,
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"cdna_length": 4771,
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"biotype": "protein_coding",
"feature": "XM_047441893.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 3,
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"gene_symbol": "RPL10",
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"transcript": "ENST00000428169.1",
"protein_id": "ENSP00000398047.1",
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"biotype": "protein_coding",
"feature": "ENST00000428169.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
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"exon_count": 11,
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"gene_symbol": "DNASE1L1",
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"transcript": "XR_007068182.1",
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"biotype": "pseudogene",
"feature": "XR_007068182.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
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"exon_count": 4,
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"gene_symbol": "DNASE1L1",
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"hgvs_c": "c.*10A>G",
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"transcript": "ENST00000432135.1",
"protein_id": "ENSP00000410281.1",
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"biotype": "protein_coding",
"feature": "ENST00000432135.1"
}
],
"gene_symbol": "DNASE1L1",
"gene_hgnc_id": 2957,
"dbsnp": "rs782345809",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.949999988079071,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.95,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -4.369,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP6_Moderate,BP7",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 7,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_006730.4",
"gene_symbol": "DNASE1L1",
"hgnc_id": 2957,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.90A>G",
"hgvs_p": "p.Thr30Thr"
},
{
"score": -4,
"benign_score": 6,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000428169.1",
"gene_symbol": "RPL10",
"hgnc_id": 10298,
"effects": [
"intron_variant"
],
"inheritance_mode": "XL,Unknown",
"hgvs_c": "c.223-3620T>C",
"hgvs_p": null
}
],
"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
}