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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: X-48895094-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=48895094&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 48895094,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001395498.1",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIMM17B",
"gene_hgnc_id": 17310,
"hgvs_c": "c.134G>T",
"hgvs_p": "p.Arg45Leu",
"transcript": "NM_001395498.1",
"protein_id": "NP_001382427.1",
"transcript_support_level": null,
"aa_start": 45,
"aa_end": null,
"aa_length": 172,
"cds_start": 134,
"cds_end": null,
"cds_length": 519,
"cdna_start": 153,
"cdna_end": null,
"cdna_length": 818,
"mane_select": "ENST00000696123.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIMM17B",
"gene_hgnc_id": 17310,
"hgvs_c": "c.134G>T",
"hgvs_p": "p.Arg45Leu",
"transcript": "ENST00000696123.1",
"protein_id": "ENSP00000512416.1",
"transcript_support_level": null,
"aa_start": 45,
"aa_end": null,
"aa_length": 172,
"cds_start": 134,
"cds_end": null,
"cds_length": 519,
"cdna_start": 153,
"cdna_end": null,
"cdna_length": 818,
"mane_select": "NM_001395498.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIMM17B",
"gene_hgnc_id": 17310,
"hgvs_c": "c.134G>T",
"hgvs_p": "p.Arg45Leu",
"transcript": "ENST00000376582.7",
"protein_id": "ENSP00000365766.3",
"transcript_support_level": 1,
"aa_start": 45,
"aa_end": null,
"aa_length": 172,
"cds_start": 134,
"cds_end": null,
"cds_length": 519,
"cdna_start": 283,
"cdna_end": null,
"cdna_length": 950,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIMM17B",
"gene_hgnc_id": 17310,
"hgvs_c": "c.284G>T",
"hgvs_p": "p.Arg95Leu",
"transcript": "NM_001167947.2",
"protein_id": "NP_001161419.1",
"transcript_support_level": null,
"aa_start": 95,
"aa_end": null,
"aa_length": 222,
"cds_start": 284,
"cds_end": null,
"cds_length": 669,
"cdna_start": 433,
"cdna_end": null,
"cdna_length": 1100,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIMM17B",
"gene_hgnc_id": 17310,
"hgvs_c": "c.284G>T",
"hgvs_p": "p.Arg95Leu",
"transcript": "NM_001395497.1",
"protein_id": "NP_001382426.1",
"transcript_support_level": null,
"aa_start": 95,
"aa_end": null,
"aa_length": 222,
"cds_start": 284,
"cds_end": null,
"cds_length": 669,
"cdna_start": 303,
"cdna_end": null,
"cdna_length": 968,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIMM17B",
"gene_hgnc_id": 17310,
"hgvs_c": "c.284G>T",
"hgvs_p": "p.Arg95Leu",
"transcript": "ENST00000396779.7",
"protein_id": "ENSP00000379999.3",
"transcript_support_level": 5,
"aa_start": 95,
"aa_end": null,
"aa_length": 222,
"cds_start": 284,
"cds_end": null,
"cds_length": 669,
"cdna_start": 433,
"cdna_end": null,
"cdna_length": 1099,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIMM17B",
"gene_hgnc_id": 17310,
"hgvs_c": "c.284G>T",
"hgvs_p": "p.Arg95Leu",
"transcript": "ENST00000465150.6",
"protein_id": "ENSP00000477073.1",
"transcript_support_level": 2,
"aa_start": 95,
"aa_end": null,
"aa_length": 222,
"cds_start": 284,
"cds_end": null,
"cds_length": 669,
"cdna_start": 297,
"cdna_end": null,
"cdna_length": 964,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIMM17B",
"gene_hgnc_id": 17310,
"hgvs_c": "c.194G>T",
"hgvs_p": "p.Arg65Leu",
"transcript": "ENST00000495490.6",
"protein_id": "ENSP00000477027.1",
"transcript_support_level": 5,
"aa_start": 65,
"aa_end": null,
"aa_length": 192,
"cds_start": 194,
"cds_end": null,
"cds_length": 579,
"cdna_start": 278,
"cdna_end": null,
"cdna_length": 939,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIMM17B",
"gene_hgnc_id": 17310,
"hgvs_c": "c.155G>T",
"hgvs_p": "p.Arg52Leu",
"transcript": "ENST00000696124.1",
"protein_id": "ENSP00000512417.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 179,
"cds_start": 155,
"cds_end": null,
"cds_length": 540,
"cdna_start": 266,
"cdna_end": null,
"cdna_length": 931,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIMM17B",
"gene_hgnc_id": 17310,
"hgvs_c": "c.134G>T",
"hgvs_p": "p.Arg45Leu",
"transcript": "NM_005834.5",
"protein_id": "NP_005825.1",
"transcript_support_level": null,
"aa_start": 45,
"aa_end": null,
"aa_length": 172,
"cds_start": 134,
"cds_end": null,
"cds_length": 519,
"cdna_start": 283,
"cdna_end": null,
"cdna_length": 948,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIMM17B",
"gene_hgnc_id": 17310,
"hgvs_c": "c.281G>T",
"hgvs_p": "p.Arg94Leu",
"transcript": "ENST00000490755.2",
"protein_id": "ENSP00000477085.1",
"transcript_support_level": 5,
"aa_start": 94,
"aa_end": null,
"aa_length": 158,
"cds_start": 281,
"cds_end": null,
"cds_length": 477,
"cdna_start": 470,
"cdna_end": null,
"cdna_length": 666,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIMM17B",
"gene_hgnc_id": 17310,
"hgvs_c": "n.*584G>T",
"hgvs_p": null,
"transcript": "ENST00000466995.5",
"protein_id": "ENSP00000476861.1",
"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": 1528,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"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": "TIMM17B",
"gene_hgnc_id": 17310,
"hgvs_c": "n.244G>T",
"hgvs_p": null,
"transcript": "ENST00000472645.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 804,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIMM17B",
"gene_hgnc_id": 17310,
"hgvs_c": "n.*584G>T",
"hgvs_p": null,
"transcript": "ENST00000466995.5",
"protein_id": "ENSP00000476861.1",
"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": 1528,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PQBP1",
"gene_hgnc_id": 9330,
"hgvs_c": "c.-631-2387C>A",
"hgvs_p": null,
"transcript": "ENST00000651767.1",
"protein_id": "ENSP00000498362.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 265,
"cds_start": -4,
"cds_end": null,
"cds_length": 798,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1951,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "TIMM17B",
"gene_hgnc_id": 17310,
"dbsnp": "rs781920385",
"frequency_reference_population": 9.224199e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 9.2242e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.2679658532142639,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.204,
"revel_prediction": "Benign",
"alphamissense_score": 0.1831,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.55,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.808,
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001395498.1",
"gene_symbol": "TIMM17B",
"hgnc_id": 17310,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.134G>T",
"hgvs_p": "p.Arg45Leu"
},
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000651767.1",
"gene_symbol": "PQBP1",
"hgnc_id": 9330,
"effects": [
"intron_variant"
],
"inheritance_mode": "XL",
"hgvs_c": "c.-631-2387C>A",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}