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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: 21-46416194-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=21&pos=46416194&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "21",
"pos": 46416194,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "ENST00000359568.10",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCNT",
"gene_hgnc_id": 16068,
"hgvs_c": "c.6276C>T",
"hgvs_p": "p.Ala2092Ala",
"transcript": "NM_006031.6",
"protein_id": "NP_006022.3",
"transcript_support_level": null,
"aa_start": 2092,
"aa_end": null,
"aa_length": 3336,
"cds_start": 6276,
"cds_end": null,
"cds_length": 10011,
"cdna_start": 6349,
"cdna_end": null,
"cdna_length": 10526,
"mane_select": "ENST00000359568.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCNT",
"gene_hgnc_id": 16068,
"hgvs_c": "c.6276C>T",
"hgvs_p": "p.Ala2092Ala",
"transcript": "ENST00000359568.10",
"protein_id": "ENSP00000352572.5",
"transcript_support_level": 1,
"aa_start": 2092,
"aa_end": null,
"aa_length": 3336,
"cds_start": 6276,
"cds_end": null,
"cds_length": 10011,
"cdna_start": 6349,
"cdna_end": null,
"cdna_length": 10526,
"mane_select": "NM_006031.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCNT",
"gene_hgnc_id": 16068,
"hgvs_c": "c.5922C>T",
"hgvs_p": "p.Ala1974Ala",
"transcript": "ENST00000480896.5",
"protein_id": "ENSP00000511989.1",
"transcript_support_level": 1,
"aa_start": 1974,
"aa_end": null,
"aa_length": 3139,
"cds_start": 5922,
"cds_end": null,
"cds_length": 9420,
"cdna_start": 6545,
"cdna_end": null,
"cdna_length": 10485,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCNT",
"gene_hgnc_id": 16068,
"hgvs_c": "c.6309C>T",
"hgvs_p": "p.Ala2103Ala",
"transcript": "ENST00000695558.1",
"protein_id": "ENSP00000512015.1",
"transcript_support_level": null,
"aa_start": 2103,
"aa_end": null,
"aa_length": 3347,
"cds_start": 6309,
"cds_end": null,
"cds_length": 10044,
"cdna_start": 6382,
"cdna_end": null,
"cdna_length": 10559,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCNT",
"gene_hgnc_id": 16068,
"hgvs_c": "c.5922C>T",
"hgvs_p": "p.Ala1974Ala",
"transcript": "NM_001315529.2",
"protein_id": "NP_001302458.1",
"transcript_support_level": null,
"aa_start": 1974,
"aa_end": null,
"aa_length": 3139,
"cds_start": 5922,
"cds_end": null,
"cds_length": 9420,
"cdna_start": 6766,
"cdna_end": null,
"cdna_length": 10706,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCNT",
"gene_hgnc_id": 16068,
"hgvs_c": "c.450C>T",
"hgvs_p": "p.Ala150Ala",
"transcript": "ENST00000695528.1",
"protein_id": "ENSP00000511990.1",
"transcript_support_level": null,
"aa_start": 150,
"aa_end": null,
"aa_length": 1347,
"cds_start": 450,
"cds_end": null,
"cds_length": 4044,
"cdna_start": 450,
"cdna_end": null,
"cdna_length": 4468,
"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": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCNT",
"gene_hgnc_id": 16068,
"hgvs_c": "n.621C>T",
"hgvs_p": null,
"transcript": "ENST00000695527.1",
"protein_id": null,
"transcript_support_level": null,
"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": 6761,
"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": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCNT",
"gene_hgnc_id": 16068,
"hgvs_c": "n.450C>T",
"hgvs_p": null,
"transcript": "ENST00000695529.1",
"protein_id": null,
"transcript_support_level": null,
"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": 4976,
"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": 32,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCNT",
"gene_hgnc_id": 16068,
"hgvs_c": "n.*5519C>T",
"hgvs_p": null,
"transcript": "ENST00000703224.1",
"protein_id": "ENSP00000515242.1",
"transcript_support_level": null,
"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": 10699,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCNT",
"gene_hgnc_id": 16068,
"hgvs_c": "n.*5519C>T",
"hgvs_p": null,
"transcript": "ENST00000703224.1",
"protein_id": "ENSP00000515242.1",
"transcript_support_level": null,
"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": 10699,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "PCNT",
"gene_hgnc_id": 16068,
"dbsnp": "rs755726044",
"frequency_reference_population": 0.000031597963,
"hom_count_reference_population": 0,
"allele_count_reference_population": 51,
"gnomad_exomes_af": 0.0000273618,
"gnomad_genomes_af": 0.0000723028,
"gnomad_exomes_ac": 40,
"gnomad_genomes_ac": 11,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.699999988079071,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.7,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.42,
"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": -11,
"acmg_classification": "Benign",
"acmg_criteria": "PM2,BP4_Strong,BP6_Very_Strong,BP7",
"acmg_by_gene": [
{
"score": -11,
"benign_score": 13,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Very_Strong",
"BP7"
],
"verdict": "Benign",
"transcript": "ENST00000359568.10",
"gene_symbol": "PCNT",
"hgnc_id": 16068,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.6276C>T",
"hgvs_p": "p.Ala2092Ala"
}
],
"clinvar_disease": "PCNT-related disorder,not provided,not specified",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2",
"phenotype_combined": "PCNT-related disorder|not specified|not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}