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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: 5-55259871-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=55259871&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 55259871,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_019030.4",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX29",
"gene_hgnc_id": 15815,
"hgvs_c": "c.4034A>C",
"hgvs_p": "p.Glu1345Ala",
"transcript": "NM_019030.4",
"protein_id": "NP_061903.2",
"transcript_support_level": null,
"aa_start": 1345,
"aa_end": null,
"aa_length": 1369,
"cds_start": 4034,
"cds_end": null,
"cds_length": 4110,
"cdna_start": 4155,
"cdna_end": null,
"cdna_length": 4664,
"mane_select": "ENST00000251636.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_019030.4"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX29",
"gene_hgnc_id": 15815,
"hgvs_c": "c.4034A>C",
"hgvs_p": "p.Glu1345Ala",
"transcript": "ENST00000251636.10",
"protein_id": "ENSP00000251636.5",
"transcript_support_level": 1,
"aa_start": 1345,
"aa_end": null,
"aa_length": 1369,
"cds_start": 4034,
"cds_end": null,
"cds_length": 4110,
"cdna_start": 4155,
"cdna_end": null,
"cdna_length": 4664,
"mane_select": "NM_019030.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000251636.10"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX29",
"gene_hgnc_id": 15815,
"hgvs_c": "n.4242A>C",
"hgvs_p": null,
"transcript": "ENST00000504778.5",
"protein_id": null,
"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": 4557,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000504778.5"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX29",
"gene_hgnc_id": 15815,
"hgvs_c": "c.4052A>C",
"hgvs_p": "p.Glu1351Ala",
"transcript": "ENST00000867273.1",
"protein_id": "ENSP00000537332.1",
"transcript_support_level": null,
"aa_start": 1351,
"aa_end": null,
"aa_length": 1375,
"cds_start": 4052,
"cds_end": null,
"cds_length": 4128,
"cdna_start": 4173,
"cdna_end": null,
"cdna_length": 4492,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867273.1"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX29",
"gene_hgnc_id": 15815,
"hgvs_c": "c.3986A>C",
"hgvs_p": "p.Glu1329Ala",
"transcript": "ENST00000912931.1",
"protein_id": "ENSP00000582990.1",
"transcript_support_level": null,
"aa_start": 1329,
"aa_end": null,
"aa_length": 1353,
"cds_start": 3986,
"cds_end": null,
"cds_length": 4062,
"cdna_start": 4093,
"cdna_end": null,
"cdna_length": 4406,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912931.1"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX29",
"gene_hgnc_id": 15815,
"hgvs_c": "c.3965A>C",
"hgvs_p": "p.Glu1322Ala",
"transcript": "ENST00000962095.1",
"protein_id": "ENSP00000632154.1",
"transcript_support_level": null,
"aa_start": 1322,
"aa_end": null,
"aa_length": 1346,
"cds_start": 3965,
"cds_end": null,
"cds_length": 4041,
"cdna_start": 4099,
"cdna_end": null,
"cdna_length": 4416,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962095.1"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX29",
"gene_hgnc_id": 15815,
"hgvs_c": "c.3920A>C",
"hgvs_p": "p.Glu1307Ala",
"transcript": "ENST00000867272.1",
"protein_id": "ENSP00000537331.1",
"transcript_support_level": null,
"aa_start": 1307,
"aa_end": null,
"aa_length": 1331,
"cds_start": 3920,
"cds_end": null,
"cds_length": 3996,
"cdna_start": 4046,
"cdna_end": null,
"cdna_length": 4363,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867272.1"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX29",
"gene_hgnc_id": 15815,
"hgvs_c": "c.3881A>C",
"hgvs_p": "p.Glu1294Ala",
"transcript": "NM_001345964.2",
"protein_id": "NP_001332893.1",
"transcript_support_level": null,
"aa_start": 1294,
"aa_end": null,
"aa_length": 1318,
"cds_start": 3881,
"cds_end": null,
"cds_length": 3957,
"cdna_start": 4002,
"cdna_end": null,
"cdna_length": 4511,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001345964.2"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX29",
"gene_hgnc_id": 15815,
"hgvs_c": "c.3881A>C",
"hgvs_p": "p.Glu1294Ala",
"transcript": "ENST00000867274.1",
"protein_id": "ENSP00000537333.1",
"transcript_support_level": null,
"aa_start": 1294,
"aa_end": null,
"aa_length": 1318,
"cds_start": 3881,
"cds_end": null,
"cds_length": 3957,
"cdna_start": 3993,
"cdna_end": null,
"cdna_length": 4312,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867274.1"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX29",
"gene_hgnc_id": 15815,
"hgvs_c": "c.3875A>C",
"hgvs_p": "p.Glu1292Ala",
"transcript": "ENST00000962096.1",
"protein_id": "ENSP00000632155.1",
"transcript_support_level": null,
"aa_start": 1292,
"aa_end": null,
"aa_length": 1316,
"cds_start": 3875,
"cds_end": null,
"cds_length": 3951,
"cdna_start": 3969,
"cdna_end": null,
"cdna_length": 4286,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962096.1"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX29",
"gene_hgnc_id": 15815,
"hgvs_c": "c.3731A>C",
"hgvs_p": "p.Glu1244Ala",
"transcript": "ENST00000867275.1",
"protein_id": "ENSP00000537334.1",
"transcript_support_level": null,
"aa_start": 1244,
"aa_end": null,
"aa_length": 1268,
"cds_start": 3731,
"cds_end": null,
"cds_length": 3807,
"cdna_start": 3843,
"cdna_end": null,
"cdna_length": 4161,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867275.1"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX29",
"gene_hgnc_id": 15815,
"hgvs_c": "c.3599A>C",
"hgvs_p": "p.Glu1200Ala",
"transcript": "ENST00000867276.1",
"protein_id": "ENSP00000537335.1",
"transcript_support_level": null,
"aa_start": 1200,
"aa_end": null,
"aa_length": 1224,
"cds_start": 3599,
"cds_end": null,
"cds_length": 3675,
"cdna_start": 3685,
"cdna_end": null,
"cdna_length": 4004,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867276.1"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX29",
"gene_hgnc_id": 15815,
"hgvs_c": "c.2126A>C",
"hgvs_p": "p.Glu709Ala",
"transcript": "NM_001345965.2",
"protein_id": "NP_001332894.1",
"transcript_support_level": null,
"aa_start": 709,
"aa_end": null,
"aa_length": 733,
"cds_start": 2126,
"cds_end": null,
"cds_length": 2202,
"cdna_start": 4242,
"cdna_end": null,
"cdna_length": 4751,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001345965.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "DHX29",
"gene_hgnc_id": 15815,
"hgvs_c": "c.3563-3331A>C",
"hgvs_p": null,
"transcript": "ENST00000912930.1",
"protein_id": "ENSP00000582989.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1204,
"cds_start": null,
"cds_end": null,
"cds_length": 3615,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3965,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912930.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX29",
"gene_hgnc_id": 15815,
"hgvs_c": "n.4235A>C",
"hgvs_p": null,
"transcript": "NR_144323.2",
"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": 4744,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_144323.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX29",
"gene_hgnc_id": 15815,
"hgvs_c": "n.4204A>C",
"hgvs_p": null,
"transcript": "NR_144324.2",
"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": 4713,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_144324.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX29",
"gene_hgnc_id": 15815,
"hgvs_c": "n.4051A>C",
"hgvs_p": null,
"transcript": "NR_144325.2",
"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": 4560,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_144325.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CCNO-DT",
"gene_hgnc_id": 55543,
"hgvs_c": "n.129-19662T>G",
"hgvs_p": null,
"transcript": "ENST00000506435.2",
"protein_id": null,
"transcript_support_level": 3,
"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": 892,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000506435.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CCNO-DT",
"gene_hgnc_id": 55543,
"hgvs_c": "n.148-19662T>G",
"hgvs_p": null,
"transcript": "ENST00000749850.1",
"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": 610,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000749850.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CCNO-DT",
"gene_hgnc_id": 55543,
"hgvs_c": "n.107-19662T>G",
"hgvs_p": null,
"transcript": "ENST00000749851.1",
"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": 943,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000749851.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CCNO-DT",
"gene_hgnc_id": 55543,
"hgvs_c": "n.131-19662T>G",
"hgvs_p": null,
"transcript": "ENST00000749852.1",
"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": 740,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000749852.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CCNO-DT",
"gene_hgnc_id": 55543,
"hgvs_c": "n.185-19662T>G",
"hgvs_p": null,
"transcript": "ENST00000749853.1",
"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": 500,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000749853.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
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{
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{
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{
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{
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},
{
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],
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"gene_symbol": "CCNO-DT",
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"transcript": "NR_185977.1",
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],
"gene_symbol": "DHX29",
"gene_hgnc_id": 15815,
"dbsnp": "rs1746226866",
"frequency_reference_population": 0.000004974679,
"hom_count_reference_population": 0,
"allele_count_reference_population": 8,
"gnomad_exomes_af": 0.00000480803,
"gnomad_genomes_af": 0.00000656832,
"gnomad_exomes_ac": 7,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.38452279567718506,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.187,
"revel_prediction": "Benign",
"alphamissense_score": 0.1293,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.24,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 6.489,
"phylop100way_prediction": "Uncertain_significance",
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_019030.4",
"gene_symbol": "DHX29",
"hgnc_id": 15815,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.4034A>C",
"hgvs_p": "p.Glu1345Ala"
},
{
"score": 1,
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000506435.2",
"gene_symbol": "CCNO-DT",
"hgnc_id": 55543,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.129-19662T>G",
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}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}