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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: 1-226986504-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=226986504&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 226986504,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000366777.4",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ8A",
"gene_hgnc_id": 16812,
"hgvs_c": "c.1711G>A",
"hgvs_p": "p.Ala571Thr",
"transcript": "NM_020247.5",
"protein_id": "NP_064632.2",
"transcript_support_level": null,
"aa_start": 571,
"aa_end": null,
"aa_length": 647,
"cds_start": 1711,
"cds_end": null,
"cds_length": 1944,
"cdna_start": 1826,
"cdna_end": null,
"cdna_length": 2866,
"mane_select": "ENST00000366777.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ8A",
"gene_hgnc_id": 16812,
"hgvs_c": "c.1711G>A",
"hgvs_p": "p.Ala571Thr",
"transcript": "ENST00000366777.4",
"protein_id": "ENSP00000355739.3",
"transcript_support_level": 1,
"aa_start": 571,
"aa_end": null,
"aa_length": 647,
"cds_start": 1711,
"cds_end": null,
"cds_length": 1944,
"cdna_start": 1826,
"cdna_end": null,
"cdna_length": 2866,
"mane_select": "NM_020247.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ8A",
"gene_hgnc_id": 16812,
"hgvs_c": "c.1555G>A",
"hgvs_p": "p.Ala519Thr",
"transcript": "ENST00000366778.5",
"protein_id": "ENSP00000355740.1",
"transcript_support_level": 1,
"aa_start": 519,
"aa_end": null,
"aa_length": 595,
"cds_start": 1555,
"cds_end": null,
"cds_length": 1788,
"cdna_start": 1703,
"cdna_end": null,
"cdna_length": 2743,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000288674",
"gene_hgnc_id": null,
"hgvs_c": "n.*6438G>A",
"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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9497,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ8A",
"gene_hgnc_id": 16812,
"hgvs_c": "n.898G>A",
"hgvs_p": null,
"transcript": "ENST00000479852.1",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1938,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ8A",
"gene_hgnc_id": 16812,
"hgvs_c": "n.1101G>A",
"hgvs_p": null,
"transcript": "ENST00000485462.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2141,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000288674",
"gene_hgnc_id": null,
"hgvs_c": "n.*6438G>A",
"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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9497,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ8A",
"gene_hgnc_id": 16812,
"hgvs_c": "c.1711G>A",
"hgvs_p": "p.Ala571Thr",
"transcript": "XM_005273201.2",
"protein_id": "XP_005273258.1",
"transcript_support_level": null,
"aa_start": 571,
"aa_end": null,
"aa_length": 647,
"cds_start": 1711,
"cds_end": null,
"cds_length": 1944,
"cdna_start": 1809,
"cdna_end": null,
"cdna_length": 2849,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ8A",
"gene_hgnc_id": 16812,
"hgvs_c": "c.1711G>A",
"hgvs_p": "p.Ala571Thr",
"transcript": "XM_011544238.2",
"protein_id": "XP_011542540.1",
"transcript_support_level": null,
"aa_start": 571,
"aa_end": null,
"aa_length": 647,
"cds_start": 1711,
"cds_end": null,
"cds_length": 1944,
"cdna_start": 1979,
"cdna_end": null,
"cdna_length": 3019,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ8A",
"gene_hgnc_id": 16812,
"hgvs_c": "c.1711G>A",
"hgvs_p": "p.Ala571Thr",
"transcript": "XM_011544239.3",
"protein_id": "XP_011542541.1",
"transcript_support_level": null,
"aa_start": 571,
"aa_end": null,
"aa_length": 647,
"cds_start": 1711,
"cds_end": null,
"cds_length": 1944,
"cdna_start": 2004,
"cdna_end": null,
"cdna_length": 3044,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ8A",
"gene_hgnc_id": 16812,
"hgvs_c": "c.1711G>A",
"hgvs_p": "p.Ala571Thr",
"transcript": "XM_024448517.2",
"protein_id": "XP_024304285.1",
"transcript_support_level": null,
"aa_start": 571,
"aa_end": null,
"aa_length": 647,
"cds_start": 1711,
"cds_end": null,
"cds_length": 1944,
"cdna_start": 1926,
"cdna_end": null,
"cdna_length": 2966,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ8A",
"gene_hgnc_id": 16812,
"hgvs_c": "c.1711G>A",
"hgvs_p": "p.Ala571Thr",
"transcript": "XM_024448518.2",
"protein_id": "XP_024304286.1",
"transcript_support_level": null,
"aa_start": 571,
"aa_end": null,
"aa_length": 647,
"cds_start": 1711,
"cds_end": null,
"cds_length": 1944,
"cdna_start": 1898,
"cdna_end": null,
"cdna_length": 2938,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ8A",
"gene_hgnc_id": 16812,
"hgvs_c": "c.1711G>A",
"hgvs_p": "p.Ala571Thr",
"transcript": "XM_047425732.1",
"protein_id": "XP_047281688.1",
"transcript_support_level": null,
"aa_start": 571,
"aa_end": null,
"aa_length": 647,
"cds_start": 1711,
"cds_end": null,
"cds_length": 1944,
"cdna_start": 2032,
"cdna_end": null,
"cdna_length": 3072,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ8A",
"gene_hgnc_id": 16812,
"hgvs_c": "c.1711G>A",
"hgvs_p": "p.Ala571Thr",
"transcript": "XM_047425739.1",
"protein_id": "XP_047281695.1",
"transcript_support_level": null,
"aa_start": 571,
"aa_end": null,
"aa_length": 647,
"cds_start": 1711,
"cds_end": null,
"cds_length": 1944,
"cdna_start": 1893,
"cdna_end": null,
"cdna_length": 2933,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ8A",
"gene_hgnc_id": 16812,
"hgvs_c": "c.1711G>A",
"hgvs_p": "p.Ala571Thr",
"transcript": "XM_047425745.1",
"protein_id": "XP_047281701.1",
"transcript_support_level": null,
"aa_start": 571,
"aa_end": null,
"aa_length": 647,
"cds_start": 1711,
"cds_end": null,
"cds_length": 1944,
"cdna_start": 2253,
"cdna_end": null,
"cdna_length": 3293,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ8A",
"gene_hgnc_id": 16812,
"hgvs_c": "c.1711G>A",
"hgvs_p": "p.Ala571Thr",
"transcript": "XM_047425749.1",
"protein_id": "XP_047281705.1",
"transcript_support_level": null,
"aa_start": 571,
"aa_end": null,
"aa_length": 647,
"cds_start": 1711,
"cds_end": null,
"cds_length": 1944,
"cdna_start": 1865,
"cdna_end": null,
"cdna_length": 2905,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ8A",
"gene_hgnc_id": 16812,
"hgvs_c": "n.2573G>A",
"hgvs_p": null,
"transcript": "ENST00000478406.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3612,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "COQ8A",
"gene_hgnc_id": 16812,
"dbsnp": "rs762900727",
"frequency_reference_population": 0.0000446314,
"hom_count_reference_population": 1,
"allele_count_reference_population": 72,
"gnomad_exomes_af": 0.0000451595,
"gnomad_genomes_af": 0.0000395444,
"gnomad_exomes_ac": 66,
"gnomad_genomes_ac": 6,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.04031458497047424,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.286,
"revel_prediction": "Benign",
"alphamissense_score": 0.1325,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.16,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.712,
"phylop100way_prediction": "Benign",
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000366777.4",
"gene_symbol": "COQ8A",
"hgnc_id": 16812,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1711G>A",
"hgvs_p": "p.Ala571Thr"
},
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000366779.6",
"gene_symbol": "ENSG00000288674",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.*6438G>A",
"hgvs_p": null
}
],
"clinvar_disease": "Autosomal recessive ataxia due to ubiquinone deficiency,Autosomal recessive cerebellar ataxia,not provided",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:4 LB:1",
"phenotype_combined": "Autosomal recessive ataxia due to ubiquinone deficiency|Autosomal recessive cerebellar ataxia|not provided",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}