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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: 11-66241524-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=66241524&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 66241524,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000320580.9",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PACS1",
"gene_hgnc_id": 30032,
"hgvs_c": "c.2527G>A",
"hgvs_p": "p.Ala843Thr",
"transcript": "NM_018026.4",
"protein_id": "NP_060496.2",
"transcript_support_level": null,
"aa_start": 843,
"aa_end": null,
"aa_length": 963,
"cds_start": 2527,
"cds_end": null,
"cds_length": 2892,
"cdna_start": 2742,
"cdna_end": null,
"cdna_length": 4571,
"mane_select": "ENST00000320580.9",
"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": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PACS1",
"gene_hgnc_id": 30032,
"hgvs_c": "c.2527G>A",
"hgvs_p": "p.Ala843Thr",
"transcript": "ENST00000320580.9",
"protein_id": "ENSP00000316454.4",
"transcript_support_level": 1,
"aa_start": 843,
"aa_end": null,
"aa_length": 963,
"cds_start": 2527,
"cds_end": null,
"cds_length": 2892,
"cdna_start": 2742,
"cdna_end": null,
"cdna_length": 4571,
"mane_select": "NM_018026.4",
"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": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PACS1",
"gene_hgnc_id": 30032,
"hgvs_c": "c.1135G>A",
"hgvs_p": "p.Ala379Thr",
"transcript": "ENST00000529757.5",
"protein_id": "ENSP00000432858.1",
"transcript_support_level": 1,
"aa_start": 379,
"aa_end": null,
"aa_length": 499,
"cds_start": 1135,
"cds_end": null,
"cds_length": 1500,
"cdna_start": 1321,
"cdna_end": null,
"cdna_length": 1688,
"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": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PACS1",
"gene_hgnc_id": 30032,
"hgvs_c": "c.76G>A",
"hgvs_p": "p.Ala26Thr",
"transcript": "ENST00000529677.1",
"protein_id": "ENSP00000432365.1",
"transcript_support_level": 3,
"aa_start": 26,
"aa_end": null,
"aa_length": 106,
"cds_start": 76,
"cds_end": null,
"cds_length": 321,
"cdna_start": 77,
"cdna_end": null,
"cdna_length": 679,
"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": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PACS1",
"gene_hgnc_id": 30032,
"hgvs_c": "c.2233G>A",
"hgvs_p": "p.Ala745Thr",
"transcript": "XM_011545162.2",
"protein_id": "XP_011543464.2",
"transcript_support_level": null,
"aa_start": 745,
"aa_end": null,
"aa_length": 865,
"cds_start": 2233,
"cds_end": null,
"cds_length": 2598,
"cdna_start": 2265,
"cdna_end": null,
"cdna_length": 4094,
"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": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PACS1",
"gene_hgnc_id": 30032,
"hgvs_c": "c.2188G>A",
"hgvs_p": "p.Ala730Thr",
"transcript": "XM_011545164.3",
"protein_id": "XP_011543466.1",
"transcript_support_level": null,
"aa_start": 730,
"aa_end": null,
"aa_length": 850,
"cds_start": 2188,
"cds_end": null,
"cds_length": 2553,
"cdna_start": 2424,
"cdna_end": null,
"cdna_length": 4253,
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PACS1",
"gene_hgnc_id": 30032,
"hgvs_c": "n.565G>A",
"hgvs_p": null,
"transcript": "ENST00000525798.1",
"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": 589,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PACS1",
"gene_hgnc_id": 30032,
"hgvs_c": "c.-90G>A",
"hgvs_p": null,
"transcript": "ENST00000524815.5",
"protein_id": "ENSP00000433991.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 91,
"cds_start": -4,
"cds_end": null,
"cds_length": 276,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 628,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PACS1",
"gene_hgnc_id": 30032,
"hgvs_c": "c.-90G>A",
"hgvs_p": null,
"transcript": "ENST00000531597.1",
"protein_id": "ENSP00000434012.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 75,
"cds_start": -4,
"cds_end": null,
"cds_length": 230,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 617,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "PACS1",
"gene_hgnc_id": 30032,
"dbsnp": "rs369846760",
"frequency_reference_population": 0.000040891635,
"hom_count_reference_population": 2,
"allele_count_reference_population": 66,
"gnomad_exomes_af": 0.0000424133,
"gnomad_genomes_af": 0.0000262781,
"gnomad_exomes_ac": 62,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 2,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.051311612129211426,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.079,
"revel_prediction": "Benign",
"alphamissense_score": 0.0684,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.56,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.289,
"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": -9,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6,BS2",
"acmg_by_gene": [
{
"score": -9,
"benign_score": 9,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000320580.9",
"gene_symbol": "PACS1",
"hgnc_id": 30032,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2527G>A",
"hgvs_p": "p.Ala843Thr"
}
],
"clinvar_disease": "Schuurs-Hoeijmakers syndrome,not provided",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:2",
"phenotype_combined": "Schuurs-Hoeijmakers syndrome|not provided",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}