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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: 15-101177477-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=101177477&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 101177477,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_014918.5",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHSY1",
"gene_hgnc_id": 17198,
"hgvs_c": "c.2320A>T",
"hgvs_p": "p.Thr774Ser",
"transcript": "NM_014918.5",
"protein_id": "NP_055733.2",
"transcript_support_level": null,
"aa_start": 774,
"aa_end": null,
"aa_length": 802,
"cds_start": 2320,
"cds_end": null,
"cds_length": 2409,
"cdna_start": 2912,
"cdna_end": null,
"cdna_length": 4662,
"mane_select": "ENST00000254190.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHSY1",
"gene_hgnc_id": 17198,
"hgvs_c": "c.2320A>T",
"hgvs_p": "p.Thr774Ser",
"transcript": "ENST00000254190.4",
"protein_id": "ENSP00000254190.3",
"transcript_support_level": 1,
"aa_start": 774,
"aa_end": null,
"aa_length": 802,
"cds_start": 2320,
"cds_end": null,
"cds_length": 2409,
"cdna_start": 2912,
"cdna_end": null,
"cdna_length": 4662,
"mane_select": "NM_014918.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHSY1",
"gene_hgnc_id": 17198,
"hgvs_c": "c.2404A>T",
"hgvs_p": "p.Thr802Ser",
"transcript": "XM_011521364.3",
"protein_id": "XP_011519666.1",
"transcript_support_level": null,
"aa_start": 802,
"aa_end": null,
"aa_length": 830,
"cds_start": 2404,
"cds_end": null,
"cds_length": 2493,
"cdna_start": 2996,
"cdna_end": null,
"cdna_length": 4746,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHSY1",
"gene_hgnc_id": 17198,
"hgvs_c": "c.1699A>T",
"hgvs_p": "p.Thr567Ser",
"transcript": "XM_024449873.1",
"protein_id": "XP_024305641.1",
"transcript_support_level": null,
"aa_start": 567,
"aa_end": null,
"aa_length": 595,
"cds_start": 1699,
"cds_end": null,
"cds_length": 1788,
"cdna_start": 1714,
"cdna_end": null,
"cdna_length": 3464,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHSY1",
"gene_hgnc_id": 17198,
"hgvs_c": "c.1504A>T",
"hgvs_p": "p.Thr502Ser",
"transcript": "XM_017022011.2",
"protein_id": "XP_016877500.1",
"transcript_support_level": null,
"aa_start": 502,
"aa_end": null,
"aa_length": 530,
"cds_start": 1504,
"cds_end": null,
"cds_length": 1593,
"cdna_start": 13500,
"cdna_end": null,
"cdna_length": 15250,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHSY1",
"gene_hgnc_id": 17198,
"hgvs_c": "c.1504A>T",
"hgvs_p": "p.Thr502Ser",
"transcript": "XM_047432240.1",
"protein_id": "XP_047288196.1",
"transcript_support_level": null,
"aa_start": 502,
"aa_end": null,
"aa_length": 530,
"cds_start": 1504,
"cds_end": null,
"cds_length": 1593,
"cdna_start": 10135,
"cdna_end": null,
"cdna_length": 11885,
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHSY1",
"gene_hgnc_id": 17198,
"hgvs_c": "n.*1635A>T",
"hgvs_p": null,
"transcript": "ENST00000543813.2",
"protein_id": "ENSP00000496160.1",
"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": 2173,
"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": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHSY1",
"gene_hgnc_id": 17198,
"hgvs_c": "n.*1635A>T",
"hgvs_p": null,
"transcript": "ENST00000543813.2",
"protein_id": "ENSP00000496160.1",
"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": 2173,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CHSY1",
"gene_hgnc_id": 17198,
"dbsnp": "rs556065115",
"frequency_reference_population": 0.000057635316,
"hom_count_reference_population": 1,
"allele_count_reference_population": 93,
"gnomad_exomes_af": 0.0000595337,
"gnomad_genomes_af": 0.000039412,
"gnomad_exomes_ac": 87,
"gnomad_genomes_ac": 6,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0652976930141449,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.11,
"revel_prediction": "Benign",
"alphamissense_score": 0.1119,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.43,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.736,
"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": -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": "NM_014918.5",
"gene_symbol": "CHSY1",
"hgnc_id": 17198,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2320A>T",
"hgvs_p": "p.Thr774Ser"
}
],
"clinvar_disease": "Inborn genetic diseases",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}