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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: 1-226983568-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=226983568&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 226983568,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_020247.5",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ8A",
"gene_hgnc_id": 16812,
"hgvs_c": "c.1097A>G",
"hgvs_p": "p.Gln366Arg",
"transcript": "NM_020247.5",
"protein_id": "NP_064632.2",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 647,
"cds_start": 1097,
"cds_end": null,
"cds_length": 1944,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000366777.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_020247.5"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ8A",
"gene_hgnc_id": 16812,
"hgvs_c": "c.1097A>G",
"hgvs_p": "p.Gln366Arg",
"transcript": "ENST00000366777.4",
"protein_id": "ENSP00000355739.3",
"transcript_support_level": 1,
"aa_start": 366,
"aa_end": null,
"aa_length": 647,
"cds_start": 1097,
"cds_end": null,
"cds_length": 1944,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_020247.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000366777.4"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ8A",
"gene_hgnc_id": 16812,
"hgvs_c": "c.941A>G",
"hgvs_p": "p.Gln314Arg",
"transcript": "ENST00000366778.5",
"protein_id": "ENSP00000355740.1",
"transcript_support_level": 1,
"aa_start": 314,
"aa_end": null,
"aa_length": 595,
"cds_start": 941,
"cds_end": null,
"cds_length": 1788,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000366778.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000288674",
"gene_hgnc_id": null,
"hgvs_c": "n.*5824A>G",
"hgvs_p": null,
"transcript": "ENST00000366779.6",
"protein_id": "ENSP00000355741.2",
"transcript_support_level": 2,
"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": "ENST00000366779.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ8A",
"gene_hgnc_id": 16812,
"hgvs_c": "n.45A>G",
"hgvs_p": null,
"transcript": "ENST00000479852.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000479852.1"
},
{
"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": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ8A",
"gene_hgnc_id": 16812,
"hgvs_c": "n.487A>G",
"hgvs_p": null,
"transcript": "ENST00000485462.5",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000485462.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000288674",
"gene_hgnc_id": null,
"hgvs_c": "n.*5824A>G",
"hgvs_p": null,
"transcript": "ENST00000366779.6",
"protein_id": "ENSP00000355741.2",
"transcript_support_level": 2,
"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": "ENST00000366779.6"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"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": "COQ8A",
"gene_hgnc_id": 16812,
"hgvs_c": "c.1253A>G",
"hgvs_p": "p.Gln418Arg",
"transcript": "ENST00000950277.1",
"protein_id": "ENSP00000620336.1",
"transcript_support_level": null,
"aa_start": 418,
"aa_end": null,
"aa_length": 699,
"cds_start": 1253,
"cds_end": null,
"cds_length": 2100,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950277.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"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": "COQ8A",
"gene_hgnc_id": 16812,
"hgvs_c": "c.1235A>G",
"hgvs_p": "p.Gln412Arg",
"transcript": "ENST00000950276.1",
"protein_id": "ENSP00000620335.1",
"transcript_support_level": null,
"aa_start": 412,
"aa_end": null,
"aa_length": 693,
"cds_start": 1235,
"cds_end": null,
"cds_length": 2082,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950276.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ8A",
"gene_hgnc_id": 16812,
"hgvs_c": "c.1097A>G",
"hgvs_p": "p.Gln366Arg",
"transcript": "ENST00000950279.1",
"protein_id": "ENSP00000620338.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 651,
"cds_start": 1097,
"cds_end": null,
"cds_length": 1956,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950279.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"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": "COQ8A",
"gene_hgnc_id": 16812,
"hgvs_c": "c.1097A>G",
"hgvs_p": "p.Gln366Arg",
"transcript": "ENST00000873690.1",
"protein_id": "ENSP00000543749.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 647,
"cds_start": 1097,
"cds_end": null,
"cds_length": 1944,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873690.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ8A",
"gene_hgnc_id": 16812,
"hgvs_c": "c.1097A>G",
"hgvs_p": "p.Gln366Arg",
"transcript": "ENST00000873691.1",
"protein_id": "ENSP00000543750.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 647,
"cds_start": 1097,
"cds_end": null,
"cds_length": 1944,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873691.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"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": "COQ8A",
"gene_hgnc_id": 16812,
"hgvs_c": "c.1097A>G",
"hgvs_p": "p.Gln366Arg",
"transcript": "ENST00000873693.1",
"protein_id": "ENSP00000543752.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 647,
"cds_start": 1097,
"cds_end": null,
"cds_length": 1944,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873693.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"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": "COQ8A",
"gene_hgnc_id": 16812,
"hgvs_c": "c.1097A>G",
"hgvs_p": "p.Gln366Arg",
"transcript": "ENST00000873694.1",
"protein_id": "ENSP00000543753.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 647,
"cds_start": 1097,
"cds_end": null,
"cds_length": 1944,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873694.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ8A",
"gene_hgnc_id": 16812,
"hgvs_c": "c.1097A>G",
"hgvs_p": "p.Gln366Arg",
"transcript": "ENST00000873696.1",
"protein_id": "ENSP00000543755.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 647,
"cds_start": 1097,
"cds_end": null,
"cds_length": 1944,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873696.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"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": "COQ8A",
"gene_hgnc_id": 16812,
"hgvs_c": "c.1097A>G",
"hgvs_p": "p.Gln366Arg",
"transcript": "ENST00000873697.1",
"protein_id": "ENSP00000543756.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 647,
"cds_start": 1097,
"cds_end": null,
"cds_length": 1944,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873697.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"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": "COQ8A",
"gene_hgnc_id": 16812,
"hgvs_c": "c.1097A>G",
"hgvs_p": "p.Gln366Arg",
"transcript": "ENST00000873698.1",
"protein_id": "ENSP00000543757.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 647,
"cds_start": 1097,
"cds_end": null,
"cds_length": 1944,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873698.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"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": "COQ8A",
"gene_hgnc_id": 16812,
"hgvs_c": "c.1097A>G",
"hgvs_p": "p.Gln366Arg",
"transcript": "ENST00000873699.1",
"protein_id": "ENSP00000543758.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 647,
"cds_start": 1097,
"cds_end": null,
"cds_length": 1944,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873699.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"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": "COQ8A",
"gene_hgnc_id": 16812,
"hgvs_c": "c.1097A>G",
"hgvs_p": "p.Gln366Arg",
"transcript": "ENST00000873700.1",
"protein_id": "ENSP00000543759.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 647,
"cds_start": 1097,
"cds_end": null,
"cds_length": 1944,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873700.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"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": "COQ8A",
"gene_hgnc_id": 16812,
"hgvs_c": "c.1097A>G",
"hgvs_p": "p.Gln366Arg",
"transcript": "ENST00000873701.1",
"protein_id": "ENSP00000543760.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 647,
"cds_start": 1097,
"cds_end": null,
"cds_length": 1944,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873701.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"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": "COQ8A",
"gene_hgnc_id": 16812,
"hgvs_c": "c.1097A>G",
"hgvs_p": "p.Gln366Arg",
"transcript": "ENST00000873702.1",
"protein_id": "ENSP00000543761.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 647,
"cds_start": 1097,
"cds_end": null,
"cds_length": 1944,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873702.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ8A",
"gene_hgnc_id": 16812,
"hgvs_c": "c.1097A>G",
"hgvs_p": "p.Gln366Arg",
"transcript": "ENST00000873703.1",
"protein_id": "ENSP00000543762.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 647,
"cds_start": 1097,
"cds_end": null,
"cds_length": 1944,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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{
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"benign_score": 1,
"pathogenic_score": 0,
"criteria": [
"BP4"
],
"verdict": "Likely_benign",
"transcript": "NM_020247.5",
"gene_symbol": "COQ8A",
"hgnc_id": 16812,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1097A>G",
"hgvs_p": "p.Gln366Arg"
},
{
"score": -1,
"benign_score": 1,
"pathogenic_score": 0,
"criteria": [
"BP4"
],
"verdict": "Likely_benign",
"transcript": "ENST00000366779.6",
"gene_symbol": "ENSG00000288674",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.*5824A>G",
"hgvs_p": null
}
],
"clinvar_disease": "Autosomal recessive ataxia due to ubiquinone deficiency,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:4",
"phenotype_combined": "not provided|Autosomal recessive ataxia due to ubiquinone deficiency",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}