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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: 19-40692176-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=40692176&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 40692176,
"ref": "G",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_024876.4",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ8B",
"gene_hgnc_id": 19041,
"hgvs_c": "c.1494C>A",
"hgvs_p": "p.Ala498Ala",
"transcript": "NM_024876.4",
"protein_id": "NP_079152.3",
"transcript_support_level": null,
"aa_start": 498,
"aa_end": null,
"aa_length": 544,
"cds_start": 1494,
"cds_end": null,
"cds_length": 1635,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000324464.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_024876.4"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ8B",
"gene_hgnc_id": 19041,
"hgvs_c": "c.1494C>A",
"hgvs_p": "p.Ala498Ala",
"transcript": "ENST00000324464.8",
"protein_id": "ENSP00000315118.3",
"transcript_support_level": 1,
"aa_start": 498,
"aa_end": null,
"aa_length": 544,
"cds_start": 1494,
"cds_end": null,
"cds_length": 1635,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_024876.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000324464.8"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ8B",
"gene_hgnc_id": 19041,
"hgvs_c": "c.1371C>A",
"hgvs_p": "p.Ala457Ala",
"transcript": "ENST00000243583.10",
"protein_id": "ENSP00000243583.5",
"transcript_support_level": 1,
"aa_start": 457,
"aa_end": null,
"aa_length": 503,
"cds_start": 1371,
"cds_end": null,
"cds_length": 1512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000243583.10"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ8B",
"gene_hgnc_id": 19041,
"hgvs_c": "c.1539C>A",
"hgvs_p": "p.Ala513Ala",
"transcript": "ENST00000871658.1",
"protein_id": "ENSP00000541717.1",
"transcript_support_level": null,
"aa_start": 513,
"aa_end": null,
"aa_length": 559,
"cds_start": 1539,
"cds_end": null,
"cds_length": 1680,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871658.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ8B",
"gene_hgnc_id": 19041,
"hgvs_c": "c.1494C>A",
"hgvs_p": "p.Ala498Ala",
"transcript": "ENST00000594720.6",
"protein_id": "ENSP00000470876.2",
"transcript_support_level": 5,
"aa_start": 498,
"aa_end": null,
"aa_length": 544,
"cds_start": 1494,
"cds_end": null,
"cds_length": 1635,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000594720.6"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ8B",
"gene_hgnc_id": 19041,
"hgvs_c": "c.1494C>A",
"hgvs_p": "p.Ala498Ala",
"transcript": "ENST00000601967.6",
"protein_id": "ENSP00000470916.2",
"transcript_support_level": 3,
"aa_start": 498,
"aa_end": null,
"aa_length": 544,
"cds_start": 1494,
"cds_end": null,
"cds_length": 1635,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000601967.6"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ8B",
"gene_hgnc_id": 19041,
"hgvs_c": "c.1494C>A",
"hgvs_p": "p.Ala498Ala",
"transcript": "ENST00000677018.1",
"protein_id": "ENSP00000503480.1",
"transcript_support_level": null,
"aa_start": 498,
"aa_end": null,
"aa_length": 544,
"cds_start": 1494,
"cds_end": null,
"cds_length": 1635,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000677018.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ8B",
"gene_hgnc_id": 19041,
"hgvs_c": "c.1494C>A",
"hgvs_p": "p.Ala498Ala",
"transcript": "ENST00000678404.1",
"protein_id": "ENSP00000503944.1",
"transcript_support_level": null,
"aa_start": 498,
"aa_end": null,
"aa_length": 544,
"cds_start": 1494,
"cds_end": null,
"cds_length": 1635,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000678404.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ8B",
"gene_hgnc_id": 19041,
"hgvs_c": "c.1494C>A",
"hgvs_p": "p.Ala498Ala",
"transcript": "ENST00000678419.1",
"protein_id": "ENSP00000504085.1",
"transcript_support_level": null,
"aa_start": 498,
"aa_end": null,
"aa_length": 544,
"cds_start": 1494,
"cds_end": null,
"cds_length": 1635,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000678419.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ8B",
"gene_hgnc_id": 19041,
"hgvs_c": "c.1494C>A",
"hgvs_p": "p.Ala498Ala",
"transcript": "ENST00000678467.1",
"protein_id": "ENSP00000504072.1",
"transcript_support_level": null,
"aa_start": 498,
"aa_end": null,
"aa_length": 544,
"cds_start": 1494,
"cds_end": null,
"cds_length": 1635,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000678467.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ8B",
"gene_hgnc_id": 19041,
"hgvs_c": "c.1494C>A",
"hgvs_p": "p.Ala498Ala",
"transcript": "ENST00000679130.1",
"protein_id": "ENSP00000504845.1",
"transcript_support_level": null,
"aa_start": 498,
"aa_end": null,
"aa_length": 544,
"cds_start": 1494,
"cds_end": null,
"cds_length": 1635,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000679130.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ8B",
"gene_hgnc_id": 19041,
"hgvs_c": "c.1494C>A",
"hgvs_p": "p.Ala498Ala",
"transcript": "ENST00000871645.1",
"protein_id": "ENSP00000541704.1",
"transcript_support_level": null,
"aa_start": 498,
"aa_end": null,
"aa_length": 544,
"cds_start": 1494,
"cds_end": null,
"cds_length": 1635,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871645.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ8B",
"gene_hgnc_id": 19041,
"hgvs_c": "c.1494C>A",
"hgvs_p": "p.Ala498Ala",
"transcript": "ENST00000871646.1",
"protein_id": "ENSP00000541705.1",
"transcript_support_level": null,
"aa_start": 498,
"aa_end": null,
"aa_length": 544,
"cds_start": 1494,
"cds_end": null,
"cds_length": 1635,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871646.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ8B",
"gene_hgnc_id": 19041,
"hgvs_c": "c.1494C>A",
"hgvs_p": "p.Ala498Ala",
"transcript": "ENST00000871649.1",
"protein_id": "ENSP00000541708.1",
"transcript_support_level": null,
"aa_start": 498,
"aa_end": null,
"aa_length": 544,
"cds_start": 1494,
"cds_end": null,
"cds_length": 1635,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871649.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ8B",
"gene_hgnc_id": 19041,
"hgvs_c": "c.1494C>A",
"hgvs_p": "p.Ala498Ala",
"transcript": "ENST00000871650.1",
"protein_id": "ENSP00000541709.1",
"transcript_support_level": null,
"aa_start": 498,
"aa_end": null,
"aa_length": 544,
"cds_start": 1494,
"cds_end": null,
"cds_length": 1635,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871650.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ8B",
"gene_hgnc_id": 19041,
"hgvs_c": "c.1494C>A",
"hgvs_p": "p.Ala498Ala",
"transcript": "ENST00000871651.1",
"protein_id": "ENSP00000541710.1",
"transcript_support_level": null,
"aa_start": 498,
"aa_end": null,
"aa_length": 544,
"cds_start": 1494,
"cds_end": null,
"cds_length": 1635,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871651.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ8B",
"gene_hgnc_id": 19041,
"hgvs_c": "c.1494C>A",
"hgvs_p": "p.Ala498Ala",
"transcript": "ENST00000871652.1",
"protein_id": "ENSP00000541711.1",
"transcript_support_level": null,
"aa_start": 498,
"aa_end": null,
"aa_length": 544,
"cds_start": 1494,
"cds_end": null,
"cds_length": 1635,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871652.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ8B",
"gene_hgnc_id": 19041,
"hgvs_c": "c.1494C>A",
"hgvs_p": "p.Ala498Ala",
"transcript": "ENST00000871653.1",
"protein_id": "ENSP00000541712.1",
"transcript_support_level": null,
"aa_start": 498,
"aa_end": null,
"aa_length": 544,
"cds_start": 1494,
"cds_end": null,
"cds_length": 1635,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871653.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ8B",
"gene_hgnc_id": 19041,
"hgvs_c": "c.1494C>A",
"hgvs_p": "p.Ala498Ala",
"transcript": "ENST00000871655.1",
"protein_id": "ENSP00000541714.1",
"transcript_support_level": null,
"aa_start": 498,
"aa_end": null,
"aa_length": 544,
"cds_start": 1494,
"cds_end": null,
"cds_length": 1635,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871655.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ8B",
"gene_hgnc_id": 19041,
"hgvs_c": "c.1494C>A",
"hgvs_p": "p.Ala498Ala",
"transcript": "ENST00000871661.1",
"protein_id": "ENSP00000541720.1",
"transcript_support_level": null,
"aa_start": 498,
"aa_end": null,
"aa_length": 544,
"cds_start": 1494,
"cds_end": null,
"cds_length": 1635,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871661.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ8B",
"gene_hgnc_id": 19041,
"hgvs_c": "c.1494C>A",
"hgvs_p": "p.Ala498Ala",
"transcript": "ENST00000915176.1",
"protein_id": "ENSP00000585235.1",
"transcript_support_level": null,
"aa_start": 498,
"aa_end": null,
"aa_length": 544,
"cds_start": 1494,
"cds_end": null,
"cds_length": 1635,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915176.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ8B",
"gene_hgnc_id": 19041,
"hgvs_c": "c.1494C>A",
"hgvs_p": "p.Ala498Ala",
"transcript": "ENST00000946424.1",
"protein_id": "ENSP00000616483.1",
"transcript_support_level": null,
"aa_start": 498,
"aa_end": null,
"aa_length": 544,
"cds_start": 1494,
"cds_end": null,
"cds_length": 1635,
"cdna_start": null,
"cdna_end": null,
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{
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"protein_coding": false,
"strand": false,
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},
{
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"protein_coding": false,
"strand": false,
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"exon_count": 13,
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"gene_symbol": "COQ8B",
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"transcript": "ENST00000678057.1",
"protein_id": "ENSP00000503762.1",
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},
{
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"protein_coding": false,
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],
"exon_rank": 15,
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"exon_count": 15,
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"gene_symbol": "COQ8B",
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"transcript": "ENST00000678316.1",
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},
{
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],
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"gene_symbol": "COQ8B",
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},
{
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"gene_symbol": "COQ8B",
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},
{
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"3_prime_UTR_variant"
],
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"gene_symbol": "COQ8B",
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"hgvs_c": "n.*1324C>A",
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"transcript": "ENST00000679315.1",
"protein_id": "ENSP00000503065.1",
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000679315.1"
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],
"gene_symbol": "COQ8B",
"gene_hgnc_id": 19041,
"dbsnp": "rs760132974",
"frequency_reference_population": 0.0000582763,
"hom_count_reference_population": 0,
"allele_count_reference_population": 93,
"gnomad_exomes_af": 0.0000623384,
"gnomad_genomes_af": 0.0000197221,
"gnomad_exomes_ac": 90,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.550000011920929,
"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": -0.55,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.942,
"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": -7,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BP7",
"acmg_by_gene": [
{
"score": -7,
"benign_score": 7,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BP7"
],
"verdict": "Benign",
"transcript": "NM_024876.4",
"gene_symbol": "COQ8B",
"hgnc_id": 19041,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.1494C>A",
"hgvs_p": "p.Ala498Ala"
}
],
"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
}