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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: 2-10419953-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=10419953&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 10419953,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_002149.4",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPCAL1",
"gene_hgnc_id": 5145,
"hgvs_c": "c.196G>A",
"hgvs_p": "p.Glu66Lys",
"transcript": "NM_002149.4",
"protein_id": "NP_002140.2",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 193,
"cds_start": 196,
"cds_end": null,
"cds_length": 582,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000307845.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002149.4"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPCAL1",
"gene_hgnc_id": 5145,
"hgvs_c": "c.196G>A",
"hgvs_p": "p.Glu66Lys",
"transcript": "ENST00000307845.8",
"protein_id": "ENSP00000310749.3",
"transcript_support_level": 1,
"aa_start": 66,
"aa_end": null,
"aa_length": 193,
"cds_start": 196,
"cds_end": null,
"cds_length": 582,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002149.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000307845.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPCAL1",
"gene_hgnc_id": 5145,
"hgvs_c": "n.196G>A",
"hgvs_p": null,
"transcript": "ENST00000419810.6",
"protein_id": "ENSP00000416359.2",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000419810.6"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPCAL1",
"gene_hgnc_id": 5145,
"hgvs_c": "c.196G>A",
"hgvs_p": "p.Glu66Lys",
"transcript": "ENST00000904548.1",
"protein_id": "ENSP00000574607.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 194,
"cds_start": 196,
"cds_end": null,
"cds_length": 585,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904548.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPCAL1",
"gene_hgnc_id": 5145,
"hgvs_c": "c.196G>A",
"hgvs_p": "p.Glu66Lys",
"transcript": "ENST00000959396.1",
"protein_id": "ENSP00000629455.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 194,
"cds_start": 196,
"cds_end": null,
"cds_length": 585,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959396.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPCAL1",
"gene_hgnc_id": 5145,
"hgvs_c": "c.196G>A",
"hgvs_p": "p.Glu66Lys",
"transcript": "ENST00000959410.1",
"protein_id": "ENSP00000629469.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 194,
"cds_start": 196,
"cds_end": null,
"cds_length": 585,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959410.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPCAL1",
"gene_hgnc_id": 5145,
"hgvs_c": "c.196G>A",
"hgvs_p": "p.Glu66Lys",
"transcript": "NM_001258357.2",
"protein_id": "NP_001245286.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 193,
"cds_start": 196,
"cds_end": null,
"cds_length": 582,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001258357.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPCAL1",
"gene_hgnc_id": 5145,
"hgvs_c": "c.196G>A",
"hgvs_p": "p.Glu66Lys",
"transcript": "NM_001258358.2",
"protein_id": "NP_001245287.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 193,
"cds_start": 196,
"cds_end": null,
"cds_length": 582,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001258358.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPCAL1",
"gene_hgnc_id": 5145,
"hgvs_c": "c.196G>A",
"hgvs_p": "p.Glu66Lys",
"transcript": "NM_001258359.2",
"protein_id": "NP_001245288.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 193,
"cds_start": 196,
"cds_end": null,
"cds_length": 582,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001258359.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPCAL1",
"gene_hgnc_id": 5145,
"hgvs_c": "c.196G>A",
"hgvs_p": "p.Glu66Lys",
"transcript": "NM_134421.3",
"protein_id": "NP_602293.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 193,
"cds_start": 196,
"cds_end": null,
"cds_length": 582,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_134421.3"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPCAL1",
"gene_hgnc_id": 5145,
"hgvs_c": "c.196G>A",
"hgvs_p": "p.Glu66Lys",
"transcript": "ENST00000381765.7",
"protein_id": "ENSP00000371184.3",
"transcript_support_level": 2,
"aa_start": 66,
"aa_end": null,
"aa_length": 193,
"cds_start": 196,
"cds_end": null,
"cds_length": 582,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000381765.7"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPCAL1",
"gene_hgnc_id": 5145,
"hgvs_c": "c.196G>A",
"hgvs_p": "p.Glu66Lys",
"transcript": "ENST00000613496.4",
"protein_id": "ENSP00000478231.1",
"transcript_support_level": 3,
"aa_start": 66,
"aa_end": null,
"aa_length": 193,
"cds_start": 196,
"cds_end": null,
"cds_length": 582,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000613496.4"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPCAL1",
"gene_hgnc_id": 5145,
"hgvs_c": "c.196G>A",
"hgvs_p": "p.Glu66Lys",
"transcript": "ENST00000620771.4",
"protein_id": "ENSP00000483786.1",
"transcript_support_level": 2,
"aa_start": 66,
"aa_end": null,
"aa_length": 193,
"cds_start": 196,
"cds_end": null,
"cds_length": 582,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000620771.4"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPCAL1",
"gene_hgnc_id": 5145,
"hgvs_c": "c.196G>A",
"hgvs_p": "p.Glu66Lys",
"transcript": "ENST00000622018.4",
"protein_id": "ENSP00000482993.1",
"transcript_support_level": 5,
"aa_start": 66,
"aa_end": null,
"aa_length": 193,
"cds_start": 196,
"cds_end": null,
"cds_length": 582,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000622018.4"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPCAL1",
"gene_hgnc_id": 5145,
"hgvs_c": "c.196G>A",
"hgvs_p": "p.Glu66Lys",
"transcript": "ENST00000904522.1",
"protein_id": "ENSP00000574581.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 193,
"cds_start": 196,
"cds_end": null,
"cds_length": 582,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904522.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPCAL1",
"gene_hgnc_id": 5145,
"hgvs_c": "c.196G>A",
"hgvs_p": "p.Glu66Lys",
"transcript": "ENST00000904523.1",
"protein_id": "ENSP00000574582.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 193,
"cds_start": 196,
"cds_end": null,
"cds_length": 582,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904523.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPCAL1",
"gene_hgnc_id": 5145,
"hgvs_c": "c.196G>A",
"hgvs_p": "p.Glu66Lys",
"transcript": "ENST00000904524.1",
"protein_id": "ENSP00000574583.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 193,
"cds_start": 196,
"cds_end": null,
"cds_length": 582,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904524.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPCAL1",
"gene_hgnc_id": 5145,
"hgvs_c": "c.196G>A",
"hgvs_p": "p.Glu66Lys",
"transcript": "ENST00000904525.1",
"protein_id": "ENSP00000574584.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 193,
"cds_start": 196,
"cds_end": null,
"cds_length": 582,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904525.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPCAL1",
"gene_hgnc_id": 5145,
"hgvs_c": "c.196G>A",
"hgvs_p": "p.Glu66Lys",
"transcript": "ENST00000904526.1",
"protein_id": "ENSP00000574585.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 193,
"cds_start": 196,
"cds_end": null,
"cds_length": 582,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904526.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPCAL1",
"gene_hgnc_id": 5145,
"hgvs_c": "c.196G>A",
"hgvs_p": "p.Glu66Lys",
"transcript": "ENST00000904527.1",
"protein_id": "ENSP00000574586.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 193,
"cds_start": 196,
"cds_end": null,
"cds_length": 582,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904527.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPCAL1",
"gene_hgnc_id": 5145,
"hgvs_c": "c.196G>A",
"hgvs_p": "p.Glu66Lys",
"transcript": "ENST00000904528.1",
"protein_id": "ENSP00000574587.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 193,
"cds_start": 196,
"cds_end": null,
"cds_length": 582,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904528.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPCAL1",
"gene_hgnc_id": 5145,
"hgvs_c": "c.196G>A",
"hgvs_p": "p.Glu66Lys",
"transcript": "ENST00000904529.1",
"protein_id": "ENSP00000574588.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 193,
"cds_start": 196,
"cds_end": null,
"cds_length": 582,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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"aa_start": 66,
"aa_end": null,
"aa_length": 193,
"cds_start": 196,
"cds_end": null,
"cds_length": 582,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047444100.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPCAL1",
"gene_hgnc_id": 5145,
"hgvs_c": "c.196G>A",
"hgvs_p": "p.Glu66Lys",
"transcript": "XM_011510349.3",
"protein_id": "XP_011508651.1",
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"aa_start": 66,
"aa_end": null,
"aa_length": 190,
"cds_start": 196,
"cds_end": null,
"cds_length": 573,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011510349.3"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPCAL1",
"gene_hgnc_id": 5145,
"hgvs_c": "c.196G>A",
"hgvs_p": "p.Glu66Lys",
"transcript": "XM_047444101.1",
"protein_id": "XP_047300057.1",
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"aa_start": 66,
"aa_end": null,
"aa_length": 190,
"cds_start": 196,
"cds_end": null,
"cds_length": 573,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047444101.1"
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPCAL1",
"gene_hgnc_id": 5145,
"hgvs_c": "n.580G>A",
"hgvs_p": null,
"transcript": "XR_007073115.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007073115.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"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": "HPCAL1",
"gene_hgnc_id": 5145,
"hgvs_c": "c.-69G>A",
"hgvs_p": null,
"transcript": "ENST00000422133.1",
"protein_id": "ENSP00000388856.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 102,
"cds_start": null,
"cds_end": null,
"cds_length": 309,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000422133.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPCAL1",
"gene_hgnc_id": 5145,
"hgvs_c": "c.*106G>A",
"hgvs_p": null,
"transcript": "ENST00000423674.5",
"protein_id": "ENSP00000413689.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 29,
"cds_start": null,
"cds_end": null,
"cds_length": 90,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000423674.5"
}
],
"gene_symbol": "HPCAL1",
"gene_hgnc_id": 5145,
"dbsnp": "rs1256159520",
"frequency_reference_population": 0.0000027365995,
"hom_count_reference_population": 0,
"allele_count_reference_population": 4,
"gnomad_exomes_af": 0.0000027366,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 4,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7648006081581116,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.432,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.6032,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.07,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 9.932,
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_002149.4",
"gene_symbol": "HPCAL1",
"hgnc_id": 5145,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.196G>A",
"hgvs_p": "p.Glu66Lys"
}
],
"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
}