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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: 1-226965719-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=226965719&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PS3",
"PM2",
"PM5",
"PP3_Strong",
"PP5_Very_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "COQ8A",
"hgnc_id": 16812,
"hgvs_c": "c.637C>T",
"hgvs_p": "p.Arg213Trp",
"inheritance_mode": "AR",
"pathogenic_score": 20,
"score": 20,
"transcript": "NM_020247.5",
"verdict": "Pathogenic"
},
{
"benign_score": 0,
"criteria": [
"PS3",
"PM2",
"PP3_Strong",
"PP5_Very_Strong"
],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "ENSG00000288674",
"hgnc_id": null,
"hgvs_c": "n.*5364C>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 18,
"score": 18,
"transcript": "ENST00000366779.6",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PS3,PM2,PM5,PP3_Strong,PP5_Very_Strong",
"acmg_score": 20,
"allele_count_reference_population": 13,
"alphamissense_prediction": null,
"alphamissense_score": 0.9198,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0.11,
"chr": "1",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_disease": "Autosomal recessive ataxia due to ubiquinone deficiency,not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:2 LP:1 O:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.9815454483032227,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 647,
"aa_ref": "R",
"aa_start": 213,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2866,
"cdna_start": 752,
"cds_end": null,
"cds_length": 1944,
"cds_start": 637,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_020247.5",
"gene_hgnc_id": 16812,
"gene_symbol": "COQ8A",
"hgvs_c": "c.637C>T",
"hgvs_p": "p.Arg213Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000366777.4",
"protein_coding": true,
"protein_id": "NP_064632.2",
"strand": true,
"transcript": "NM_020247.5",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 647,
"aa_ref": "R",
"aa_start": 213,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2866,
"cdna_start": 752,
"cds_end": null,
"cds_length": 1944,
"cds_start": 637,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000366777.4",
"gene_hgnc_id": 16812,
"gene_symbol": "COQ8A",
"hgvs_c": "c.637C>T",
"hgvs_p": "p.Arg213Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_020247.5",
"protein_coding": true,
"protein_id": "ENSP00000355739.3",
"strand": true,
"transcript": "ENST00000366777.4",
"transcript_support_level": 1
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 595,
"aa_ref": "R",
"aa_start": 161,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2743,
"cdna_start": 629,
"cds_end": null,
"cds_length": 1788,
"cds_start": 481,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000366778.5",
"gene_hgnc_id": 16812,
"gene_symbol": "COQ8A",
"hgvs_c": "c.481C>T",
"hgvs_p": "p.Arg161Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000355740.1",
"strand": true,
"transcript": "ENST00000366778.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": true,
"cdna_end": null,
"cdna_length": 9497,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 32,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000366779.6",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000288674",
"hgvs_c": "n.*5364C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000355741.2",
"strand": true,
"transcript": "ENST00000366779.6",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": true,
"cdna_end": null,
"cdna_length": 9497,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 32,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000366779.6",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000288674",
"hgvs_c": "n.*5364C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000355741.2",
"strand": true,
"transcript": "ENST00000366779.6",
"transcript_support_level": 2
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 699,
"aa_ref": "R",
"aa_start": 213,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3019,
"cdna_start": 749,
"cds_end": null,
"cds_length": 2100,
"cds_start": 637,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000950277.1",
"gene_hgnc_id": 16812,
"gene_symbol": "COQ8A",
"hgvs_c": "c.637C>T",
"hgvs_p": "p.Arg213Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000620336.1",
"strand": true,
"transcript": "ENST00000950277.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 693,
"aa_ref": "R",
"aa_start": 213,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3002,
"cdna_start": 752,
"cds_end": null,
"cds_length": 2082,
"cds_start": 637,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000950276.1",
"gene_hgnc_id": 16812,
"gene_symbol": "COQ8A",
"hgvs_c": "c.637C>T",
"hgvs_p": "p.Arg213Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000620335.1",
"strand": true,
"transcript": "ENST00000950276.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 651,
"aa_ref": "R",
"aa_start": 213,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2874,
"cdna_start": 748,
"cds_end": null,
"cds_length": 1956,
"cds_start": 637,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000950279.1",
"gene_hgnc_id": 16812,
"gene_symbol": "COQ8A",
"hgvs_c": "c.637C>T",
"hgvs_p": "p.Arg213Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000620338.1",
"strand": true,
"transcript": "ENST00000950279.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 647,
"aa_ref": "R",
"aa_start": 213,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3149,
"cdna_start": 1010,
"cds_end": null,
"cds_length": 1944,
"cds_start": 637,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000873690.1",
"gene_hgnc_id": 16812,
"gene_symbol": "COQ8A",
"hgvs_c": "c.637C>T",
"hgvs_p": "p.Arg213Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000543749.1",
"strand": true,
"transcript": "ENST00000873690.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 647,
"aa_ref": "R",
"aa_start": 213,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3133,
"cdna_start": 1018,
"cds_end": null,
"cds_length": 1944,
"cds_start": 637,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000873691.1",
"gene_hgnc_id": 16812,
"gene_symbol": "COQ8A",
"hgvs_c": "c.637C>T",
"hgvs_p": "p.Arg213Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000543750.1",
"strand": true,
"transcript": "ENST00000873691.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 647,
"aa_ref": "R",
"aa_start": 213,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3052,
"cdna_start": 938,
"cds_end": null,
"cds_length": 1944,
"cds_start": 637,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000873693.1",
"gene_hgnc_id": 16812,
"gene_symbol": "COQ8A",
"hgvs_c": "c.637C>T",
"hgvs_p": "p.Arg213Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000543752.1",
"strand": true,
"transcript": "ENST00000873693.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 647,
"aa_ref": "R",
"aa_start": 213,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2974,
"cdna_start": 860,
"cds_end": null,
"cds_length": 1944,
"cds_start": 637,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000873694.1",
"gene_hgnc_id": 16812,
"gene_symbol": "COQ8A",
"hgvs_c": "c.637C>T",
"hgvs_p": "p.Arg213Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000543753.1",
"strand": true,
"transcript": "ENST00000873694.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 647,
"aa_ref": "R",
"aa_start": 213,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3020,
"cdna_start": 906,
"cds_end": null,
"cds_length": 1944,
"cds_start": 637,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000873696.1",
"gene_hgnc_id": 16812,
"gene_symbol": "COQ8A",
"hgvs_c": "c.637C>T",
"hgvs_p": "p.Arg213Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000543755.1",
"strand": true,
"transcript": "ENST00000873696.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 647,
"aa_ref": "R",
"aa_start": 213,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3006,
"cdna_start": 893,
"cds_end": null,
"cds_length": 1944,
"cds_start": 637,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000873697.1",
"gene_hgnc_id": 16812,
"gene_symbol": "COQ8A",
"hgvs_c": "c.637C>T",
"hgvs_p": "p.Arg213Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000543756.1",
"strand": true,
"transcript": "ENST00000873697.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 647,
"aa_ref": "R",
"aa_start": 213,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2905,
"cdna_start": 792,
"cds_end": null,
"cds_length": 1944,
"cds_start": 637,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000873698.1",
"gene_hgnc_id": 16812,
"gene_symbol": "COQ8A",
"hgvs_c": "c.637C>T",
"hgvs_p": "p.Arg213Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000543757.1",
"strand": true,
"transcript": "ENST00000873698.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 647,
"aa_ref": "R",
"aa_start": 213,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3123,
"cdna_start": 1009,
"cds_end": null,
"cds_length": 1944,
"cds_start": 637,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000873699.1",
"gene_hgnc_id": 16812,
"gene_symbol": "COQ8A",
"hgvs_c": "c.637C>T",
"hgvs_p": "p.Arg213Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000543758.1",
"strand": true,
"transcript": "ENST00000873699.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 647,
"aa_ref": "R",
"aa_start": 213,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3072,
"cdna_start": 958,
"cds_end": null,
"cds_length": 1944,
"cds_start": 637,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000873700.1",
"gene_hgnc_id": 16812,
"gene_symbol": "COQ8A",
"hgvs_c": "c.637C>T",
"hgvs_p": "p.Arg213Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000543759.1",
"strand": true,
"transcript": "ENST00000873700.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 647,
"aa_ref": "R",
"aa_start": 213,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3237,
"cdna_start": 1123,
"cds_end": null,
"cds_length": 1944,
"cds_start": 637,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000873701.1",
"gene_hgnc_id": 16812,
"gene_symbol": "COQ8A",
"hgvs_c": "c.637C>T",
"hgvs_p": "p.Arg213Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000543760.1",
"strand": true,
"transcript": "ENST00000873701.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 647,
"aa_ref": "R",
"aa_start": 213,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2933,
"cdna_start": 819,
"cds_end": null,
"cds_length": 1944,
"cds_start": 637,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000873702.1",
"gene_hgnc_id": 16812,
"gene_symbol": "COQ8A",
"hgvs_c": "c.637C>T",
"hgvs_p": "p.Arg213Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000543761.1",
"strand": true,
"transcript": "ENST00000873702.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 647,
"aa_ref": "R",
"aa_start": 213,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2835,
"cdna_start": 721,
"cds_end": null,
"cds_length": 1944,
"cds_start": 637,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000873703.1",
"gene_hgnc_id": 16812,
"gene_symbol": "COQ8A",
"hgvs_c": "c.637C>T",
"hgvs_p": "p.Arg213Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000543762.1",
"strand": true,
"transcript": "ENST00000873703.1",
"transcript_support_level": null
},
{
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"phenotype_combined": "Autosomal recessive ataxia due to ubiquinone deficiency|not provided",
"phylop100way_prediction": "Benign",
"phylop100way_score": 0.932,
"pos": 226965719,
"ref": "C",
"revel_prediction": "Uncertain_significance",
"revel_score": 0.615,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_020247.5"
}
]
}