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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: 6-7542020-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=7542020&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 7542020,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000379802.8",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSP",
"gene_hgnc_id": 3052,
"hgvs_c": "c.105G>A",
"hgvs_p": "p.Gly35Gly",
"transcript": "NM_004415.4",
"protein_id": "NP_004406.2",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 2871,
"cds_start": 105,
"cds_end": null,
"cds_length": 8616,
"cdna_start": 350,
"cdna_end": null,
"cdna_length": 9697,
"mane_select": "ENST00000379802.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSP",
"gene_hgnc_id": 3052,
"hgvs_c": "c.105G>A",
"hgvs_p": "p.Gly35Gly",
"transcript": "ENST00000379802.8",
"protein_id": "ENSP00000369129.3",
"transcript_support_level": 1,
"aa_start": 35,
"aa_end": null,
"aa_length": 2871,
"cds_start": 105,
"cds_end": null,
"cds_length": 8616,
"cdna_start": 350,
"cdna_end": null,
"cdna_length": 9697,
"mane_select": "NM_004415.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSP",
"gene_hgnc_id": 3052,
"hgvs_c": "c.105G>A",
"hgvs_p": "p.Gly35Gly",
"transcript": "ENST00000418664.3",
"protein_id": "ENSP00000396591.2",
"transcript_support_level": 1,
"aa_start": 35,
"aa_end": null,
"aa_length": 2272,
"cds_start": 105,
"cds_end": null,
"cds_length": 6819,
"cdna_start": 695,
"cdna_end": null,
"cdna_length": 8248,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSP",
"gene_hgnc_id": 3052,
"hgvs_c": "c.105G>A",
"hgvs_p": "p.Gly35Gly",
"transcript": "NM_001319034.2",
"protein_id": "NP_001305963.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 2428,
"cds_start": 105,
"cds_end": null,
"cds_length": 7287,
"cdna_start": 350,
"cdna_end": null,
"cdna_length": 8368,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSP",
"gene_hgnc_id": 3052,
"hgvs_c": "c.105G>A",
"hgvs_p": "p.Gly35Gly",
"transcript": "ENST00000710359.2",
"protein_id": "ENSP00000518230.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 2428,
"cds_start": 105,
"cds_end": null,
"cds_length": 7287,
"cdna_start": 683,
"cdna_end": null,
"cdna_length": 8700,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSP",
"gene_hgnc_id": 3052,
"hgvs_c": "c.105G>A",
"hgvs_p": "p.Gly35Gly",
"transcript": "NM_001008844.3",
"protein_id": "NP_001008844.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 2272,
"cds_start": 105,
"cds_end": null,
"cds_length": 6819,
"cdna_start": 350,
"cdna_end": null,
"cdna_length": 7900,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSP",
"gene_hgnc_id": 3052,
"hgvs_c": "c.105G>A",
"hgvs_p": "p.Gly35Gly",
"transcript": "ENST00000713909.1",
"protein_id": "ENSP00000519208.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 2106,
"cds_start": 105,
"cds_end": null,
"cds_length": 6321,
"cdna_start": 574,
"cdna_end": null,
"cdna_length": 7486,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSP",
"gene_hgnc_id": 3052,
"hgvs_c": "c.105G>A",
"hgvs_p": "p.Gly35Gly",
"transcript": "NM_001406591.1",
"protein_id": "NP_001393520.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 479,
"cds_start": 105,
"cds_end": null,
"cds_length": 1440,
"cdna_start": 350,
"cdna_end": null,
"cdna_length": 2067,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSP",
"gene_hgnc_id": 3052,
"hgvs_c": "c.105G>A",
"hgvs_p": "p.Gly35Gly",
"transcript": "ENST00000713910.1",
"protein_id": "ENSP00000519209.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 479,
"cds_start": 105,
"cds_end": null,
"cds_length": 1440,
"cdna_start": 523,
"cdna_end": null,
"cdna_length": 2242,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSP",
"gene_hgnc_id": 3052,
"hgvs_c": "c.105G>A",
"hgvs_p": "p.Gly35Gly",
"transcript": "ENST00000683682.2",
"protein_id": "ENSP00000508162.2",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 112,
"cds_start": 105,
"cds_end": null,
"cds_length": 339,
"cdna_start": 350,
"cdna_end": null,
"cdna_length": 807,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSP",
"gene_hgnc_id": 3052,
"hgvs_c": "c.105G>A",
"hgvs_p": "p.Gly35Gly",
"transcript": "ENST00000713918.1",
"protein_id": "ENSP00000519218.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 111,
"cds_start": 105,
"cds_end": null,
"cds_length": 336,
"cdna_start": 522,
"cdna_end": null,
"cdna_length": 3157,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSP",
"gene_hgnc_id": 3052,
"hgvs_c": "n.105G>A",
"hgvs_p": null,
"transcript": "ENST00000713869.1",
"protein_id": "ENSP00000519174.1",
"transcript_support_level": null,
"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": 9736,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSP",
"gene_hgnc_id": 3052,
"hgvs_c": "n.105G>A",
"hgvs_p": null,
"transcript": "ENST00000713903.1",
"protein_id": "ENSP00000519202.1",
"transcript_support_level": null,
"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": 8072,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSP",
"gene_hgnc_id": 3052,
"hgvs_c": "n.105G>A",
"hgvs_p": null,
"transcript": "ENST00000713911.1",
"protein_id": "ENSP00000519210.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"cdna_length": 4547,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSP",
"gene_hgnc_id": 3052,
"hgvs_c": "n.105G>A",
"hgvs_p": null,
"transcript": "ENST00000713912.1",
"protein_id": "ENSP00000519211.1",
"transcript_support_level": null,
"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": 9662,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSP",
"gene_hgnc_id": 3052,
"hgvs_c": "n.105G>A",
"hgvs_p": null,
"transcript": "ENST00000713913.1",
"protein_id": "ENSP00000519212.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 9633,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSP",
"gene_hgnc_id": 3052,
"hgvs_c": "n.105G>A",
"hgvs_p": null,
"transcript": "ENST00000713924.1",
"protein_id": "ENSP00000519221.1",
"transcript_support_level": null,
"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": 9546,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSP-AS1",
"gene_hgnc_id": 56039,
"hgvs_c": "n.53C>T",
"hgvs_p": null,
"transcript": "ENST00000837671.1",
"protein_id": null,
"transcript_support_level": null,
"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": 685,
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "DSP-AS1",
"gene_hgnc_id": 56039,
"hgvs_c": "n.348+751C>T",
"hgvs_p": null,
"transcript": "ENST00000690863.3",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 1039,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "DSP-AS1",
"gene_hgnc_id": 56039,
"hgvs_c": "n.75-967C>T",
"hgvs_p": null,
"transcript": "ENST00000837668.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 677,
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "DSP-AS1",
"gene_hgnc_id": 56039,
"hgvs_c": "n.183+284C>T",
"hgvs_p": null,
"transcript": "ENST00000837669.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "DSP-AS1",
"gene_hgnc_id": 56039,
"hgvs_c": "n.276+46C>T",
"hgvs_p": null,
"transcript": "ENST00000837670.1",
"protein_id": null,
"transcript_support_level": null,
"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": 967,
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "DSP-AS1",
"gene_hgnc_id": 56039,
"hgvs_c": "n.118+791C>T",
"hgvs_p": null,
"transcript": "NR_183328.1",
"protein_id": null,
"transcript_support_level": null,
"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": 721,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "DSP-AS1",
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"hgvs_c": "n.158+751C>T",
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"transcript": "NR_183329.1",
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"transcript_support_level": null,
"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": 761,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "DSP-AS1",
"gene_hgnc_id": 56039,
"hgvs_c": "n.625+284C>T",
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"transcript": "NR_183330.1",
"protein_id": null,
"transcript_support_level": null,
"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": 1228,
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"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "DSP-AS1",
"gene_hgnc_id": 56039,
"hgvs_c": "n.39-967C>T",
"hgvs_p": null,
"transcript": "NR_183331.1",
"protein_id": null,
"transcript_support_level": null,
"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": 641,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSP",
"gene_hgnc_id": 3052,
"hgvs_c": "n.-4G>A",
"hgvs_p": null,
"transcript": "ENST00000683563.1",
"protein_id": null,
"transcript_support_level": null,
"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": 1910,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "DSP",
"gene_hgnc_id": 3052,
"dbsnp": "rs77445784",
"frequency_reference_population": 0.007847794,
"hom_count_reference_population": 62,
"allele_count_reference_population": 12438,
"gnomad_exomes_af": 0.00807069,
"gnomad_genomes_af": 0.00575135,
"gnomad_exomes_ac": 11562,
"gnomad_genomes_ac": 876,
"gnomad_exomes_homalt": 58,
"gnomad_genomes_homalt": 4,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.5,
"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": -0.5,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.489,
"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": -21,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BS1,BS2",
"acmg_by_gene": [
{
"score": -21,
"benign_score": 21,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000379802.8",
"gene_symbol": "DSP",
"hgnc_id": 3052,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.105G>A",
"hgvs_p": "p.Gly35Gly"
},
{
"score": -16,
"benign_score": 16,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000837671.1",
"gene_symbol": "DSP-AS1",
"hgnc_id": 56039,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.53C>T",
"hgvs_p": null
}
],
"clinvar_disease": "6 conditions,Arrhythmogenic cardiomyopathy with wooly hair and keratoderma,Arrhythmogenic right ventricular dysplasia 8,Cardiomyopathy,Lethal acantholytic epidermolysis bullosa,Woolly hair-skin fragility syndrome,not provided,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:4 B:9",
"phenotype_combined": "Cardiomyopathy|not specified|not provided|Woolly hair-skin fragility syndrome|Lethal acantholytic epidermolysis bullosa|Arrhythmogenic right ventricular dysplasia 8|Arrhythmogenic right ventricular dysplasia 8;Arrhythmogenic cardiomyopathy with wooly hair and keratoderma|6 conditions",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}