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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: 17-61037952-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=61037952&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 61037952,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001353144.2",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAS3",
"gene_hgnc_id": 14347,
"hgvs_c": "c.1826A>G",
"hgvs_p": "p.Glu609Gly",
"transcript": "NM_017679.5",
"protein_id": "NP_060149.3",
"transcript_support_level": null,
"aa_start": 609,
"aa_end": null,
"aa_length": 913,
"cds_start": 1826,
"cds_end": null,
"cds_length": 2742,
"cdna_start": 1895,
"cdna_end": null,
"cdna_length": 3517,
"mane_select": "ENST00000407086.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_017679.5"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAS3",
"gene_hgnc_id": 14347,
"hgvs_c": "c.1826A>G",
"hgvs_p": "p.Glu609Gly",
"transcript": "ENST00000407086.8",
"protein_id": "ENSP00000385323.2",
"transcript_support_level": 1,
"aa_start": 609,
"aa_end": null,
"aa_length": 913,
"cds_start": 1826,
"cds_end": null,
"cds_length": 2742,
"cdna_start": 1895,
"cdna_end": null,
"cdna_length": 3517,
"mane_select": "NM_017679.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000407086.8"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAS3",
"gene_hgnc_id": 14347,
"hgvs_c": "c.1871A>G",
"hgvs_p": "p.Glu624Gly",
"transcript": "ENST00000390652.9",
"protein_id": "ENSP00000375067.4",
"transcript_support_level": 1,
"aa_start": 624,
"aa_end": null,
"aa_length": 928,
"cds_start": 1871,
"cds_end": null,
"cds_length": 2787,
"cdna_start": 1902,
"cdna_end": null,
"cdna_length": 3531,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000390652.9"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAS3",
"gene_hgnc_id": 14347,
"hgvs_c": "c.1826A>G",
"hgvs_p": "p.Glu609Gly",
"transcript": "ENST00000589222.5",
"protein_id": "ENSP00000466078.1",
"transcript_support_level": 1,
"aa_start": 609,
"aa_end": null,
"aa_length": 928,
"cds_start": 1826,
"cds_end": null,
"cds_length": 2787,
"cdna_start": 1894,
"cdna_end": null,
"cdna_length": 3673,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000589222.5"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAS3",
"gene_hgnc_id": 14347,
"hgvs_c": "c.1961A>G",
"hgvs_p": "p.Glu654Gly",
"transcript": "NM_001353144.2",
"protein_id": "NP_001340073.1",
"transcript_support_level": null,
"aa_start": 654,
"aa_end": null,
"aa_length": 958,
"cds_start": 1961,
"cds_end": null,
"cds_length": 2877,
"cdna_start": 2030,
"cdna_end": null,
"cdna_length": 3652,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353144.2"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAS3",
"gene_hgnc_id": 14347,
"hgvs_c": "c.1871A>G",
"hgvs_p": "p.Glu624Gly",
"transcript": "NM_001330413.2",
"protein_id": "NP_001317342.1",
"transcript_support_level": null,
"aa_start": 624,
"aa_end": null,
"aa_length": 950,
"cds_start": 1871,
"cds_end": null,
"cds_length": 2853,
"cdna_start": 1940,
"cdna_end": null,
"cdna_length": 3628,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330413.2"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAS3",
"gene_hgnc_id": 14347,
"hgvs_c": "c.1871A>G",
"hgvs_p": "p.Glu624Gly",
"transcript": "ENST00000588462.5",
"protein_id": "ENSP00000468592.1",
"transcript_support_level": 5,
"aa_start": 624,
"aa_end": null,
"aa_length": 950,
"cds_start": 1871,
"cds_end": null,
"cds_length": 2853,
"cdna_start": 1871,
"cdna_end": null,
"cdna_length": 3559,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000588462.5"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAS3",
"gene_hgnc_id": 14347,
"hgvs_c": "c.1916A>G",
"hgvs_p": "p.Glu639Gly",
"transcript": "NM_001353145.2",
"protein_id": "NP_001340074.1",
"transcript_support_level": null,
"aa_start": 639,
"aa_end": null,
"aa_length": 943,
"cds_start": 1916,
"cds_end": null,
"cds_length": 2832,
"cdna_start": 1985,
"cdna_end": null,
"cdna_length": 3607,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353145.2"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAS3",
"gene_hgnc_id": 14347,
"hgvs_c": "c.1826A>G",
"hgvs_p": "p.Glu609Gly",
"transcript": "NM_001330414.2",
"protein_id": "NP_001317343.1",
"transcript_support_level": null,
"aa_start": 609,
"aa_end": null,
"aa_length": 935,
"cds_start": 1826,
"cds_end": null,
"cds_length": 2808,
"cdna_start": 1895,
"cdna_end": null,
"cdna_length": 3583,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330414.2"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAS3",
"gene_hgnc_id": 14347,
"hgvs_c": "c.1826A>G",
"hgvs_p": "p.Glu609Gly",
"transcript": "ENST00000408905.7",
"protein_id": "ENSP00000386173.2",
"transcript_support_level": 5,
"aa_start": 609,
"aa_end": null,
"aa_length": 935,
"cds_start": 1826,
"cds_end": null,
"cds_length": 2808,
"cdna_start": 1826,
"cdna_end": null,
"cdna_length": 3514,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000408905.7"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAS3",
"gene_hgnc_id": 14347,
"hgvs_c": "c.1871A>G",
"hgvs_p": "p.Glu624Gly",
"transcript": "NM_001099432.3",
"protein_id": "NP_001092902.1",
"transcript_support_level": null,
"aa_start": 624,
"aa_end": null,
"aa_length": 928,
"cds_start": 1871,
"cds_end": null,
"cds_length": 2787,
"cdna_start": 1940,
"cdna_end": null,
"cdna_length": 3562,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001099432.3"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAS3",
"gene_hgnc_id": 14347,
"hgvs_c": "c.1826A>G",
"hgvs_p": "p.Glu609Gly",
"transcript": "NM_001320470.3",
"protein_id": "NP_001307399.1",
"transcript_support_level": null,
"aa_start": 609,
"aa_end": null,
"aa_length": 928,
"cds_start": 1826,
"cds_end": null,
"cds_length": 2787,
"cdna_start": 1895,
"cdna_end": null,
"cdna_length": 3674,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320470.3"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAS3",
"gene_hgnc_id": 14347,
"hgvs_c": "c.1871A>G",
"hgvs_p": "p.Glu624Gly",
"transcript": "NM_001353146.2",
"protein_id": "NP_001340075.1",
"transcript_support_level": null,
"aa_start": 624,
"aa_end": null,
"aa_length": 921,
"cds_start": 1871,
"cds_end": null,
"cds_length": 2766,
"cdna_start": 1940,
"cdna_end": null,
"cdna_length": 3653,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353146.2"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAS3",
"gene_hgnc_id": 14347,
"hgvs_c": "c.1184A>G",
"hgvs_p": "p.Glu395Gly",
"transcript": "ENST00000585744.5",
"protein_id": "ENSP00000468682.1",
"transcript_support_level": 5,
"aa_start": 395,
"aa_end": null,
"aa_length": 699,
"cds_start": 1184,
"cds_end": null,
"cds_length": 2100,
"cdna_start": 1287,
"cdna_end": null,
"cdna_length": 2203,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000585744.5"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAS3",
"gene_hgnc_id": 14347,
"hgvs_c": "c.1139A>G",
"hgvs_p": "p.Glu380Gly",
"transcript": "ENST00000588874.5",
"protein_id": "ENSP00000464825.1",
"transcript_support_level": 2,
"aa_start": 380,
"aa_end": null,
"aa_length": 684,
"cds_start": 1139,
"cds_end": null,
"cds_length": 2055,
"cdna_start": 1327,
"cdna_end": null,
"cdna_length": 2948,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000588874.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAS3",
"gene_hgnc_id": 14347,
"hgvs_c": "n.304A>G",
"hgvs_p": null,
"transcript": "ENST00000585979.5",
"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": 919,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000585979.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAS3",
"gene_hgnc_id": 14347,
"hgvs_c": "n.302A>G",
"hgvs_p": null,
"transcript": "ENST00000592827.1",
"protein_id": null,
"transcript_support_level": 4,
"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": 569,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000592827.1"
},
{
"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": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "BCAS3-AS1",
"gene_hgnc_id": 56376,
"hgvs_c": "n.298-1568T>C",
"hgvs_p": null,
"transcript": "ENST00000588604.2",
"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": 733,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000588604.2"
},
{
"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": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "BCAS3-AS1",
"gene_hgnc_id": 56376,
"hgvs_c": "n.424-1568T>C",
"hgvs_p": null,
"transcript": "ENST00000717192.1",
"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": 954,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000717192.1"
},
{
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "BCAS3-AS1",
"gene_hgnc_id": 56376,
"hgvs_c": "n.275-3178T>C",
"hgvs_p": null,
"transcript": "ENST00000821413.1",
"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": 633,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000821413.1"
},
{
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "BCAS3-AS1",
"gene_hgnc_id": 56376,
"hgvs_c": "n.210-1568T>C",
"hgvs_p": null,
"transcript": "ENST00000821414.1",
"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": 645,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000821414.1"
},
{
"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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "BCAS3-AS1",
"gene_hgnc_id": 56376,
"hgvs_c": "n.350-3178T>C",
"hgvs_p": null,
"transcript": "ENST00000821415.1",
"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": 613,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000821415.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
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"gene_symbol": "BCAS3-AS1",
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"transcript": "ENST00000821416.1",
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"aa_start": null,
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"cdna_start": null,
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"cdna_length": 847,
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"biotype": "pseudogene",
"feature": "ENST00000821416.1"
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 5,
"intron_rank": 3,
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"gene_symbol": "BCAS3-AS1",
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"biotype": "pseudogene",
"feature": "ENST00000821417.1"
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 5,
"intron_rank": 3,
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"gene_symbol": "BCAS3-AS1",
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"hgvs_c": "n.309-1568T>C",
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"transcript": "NR_186505.1",
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"biotype": "pseudogene",
"feature": "NR_186505.1"
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
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"exon_count": 4,
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"gene_symbol": "BCAS3-AS1",
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"hgvs_c": "n.266-1568T>C",
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"transcript": "NR_186506.1",
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"biotype": "pseudogene",
"feature": "NR_186506.1"
},
{
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"strand": false,
"consequences": [
"intron_variant"
],
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"exon_count": 6,
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"gene_symbol": "BCAS3-AS1",
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"hgvs_c": "n.1157-1568T>C",
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"cdna_length": 1590,
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"biotype": "pseudogene",
"feature": "NR_186507.1"
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 5,
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"intron_rank_end": null,
"gene_symbol": "BCAS3",
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"hgvs_c": "n.*49A>G",
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"transcript": "ENST00000587037.5",
"protein_id": null,
"transcript_support_level": 5,
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"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 552,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000587037.5"
}
],
"gene_symbol": "BCAS3",
"gene_hgnc_id": 14347,
"dbsnp": null,
"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": 0.8761428594589233,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.659,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9745,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.17,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 8.947,
"phylop100way_prediction": "Pathogenic",
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001353144.2",
"gene_symbol": "BCAS3",
"hgnc_id": 14347,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1961A>G",
"hgvs_p": "p.Glu654Gly"
},
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NR_186505.1",
"gene_symbol": "BCAS3-AS1",
"hgnc_id": 56376,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.309-1568T>C",
"hgvs_p": null
}
],
"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
}