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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: 1-92301481-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=92301481&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 92301481,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_024813.3",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPAP2",
"gene_hgnc_id": 25791,
"hgvs_c": "c.125C>G",
"hgvs_p": "p.Ala42Gly",
"transcript": "NM_024813.3",
"protein_id": "NP_079089.2",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 612,
"cds_start": 125,
"cds_end": null,
"cds_length": 1839,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000610020.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_024813.3"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPAP2",
"gene_hgnc_id": 25791,
"hgvs_c": "c.125C>G",
"hgvs_p": "p.Ala42Gly",
"transcript": "ENST00000610020.2",
"protein_id": "ENSP00000476948.1",
"transcript_support_level": 1,
"aa_start": 42,
"aa_end": null,
"aa_length": 612,
"cds_start": 125,
"cds_end": null,
"cds_length": 1839,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_024813.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000610020.2"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPAP2",
"gene_hgnc_id": 25791,
"hgvs_c": "c.125C>G",
"hgvs_p": "p.Ala42Gly",
"transcript": "ENST00000957713.1",
"protein_id": "ENSP00000627772.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 644,
"cds_start": 125,
"cds_end": null,
"cds_length": 1935,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957713.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPAP2",
"gene_hgnc_id": 25791,
"hgvs_c": "c.125C>G",
"hgvs_p": "p.Ala42Gly",
"transcript": "ENST00000957711.1",
"protein_id": "ENSP00000627770.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 643,
"cds_start": 125,
"cds_end": null,
"cds_length": 1932,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957711.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPAP2",
"gene_hgnc_id": 25791,
"hgvs_c": "c.125C>G",
"hgvs_p": "p.Ala42Gly",
"transcript": "ENST00000957712.1",
"protein_id": "ENSP00000627771.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 628,
"cds_start": 125,
"cds_end": null,
"cds_length": 1887,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957712.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPAP2",
"gene_hgnc_id": 25791,
"hgvs_c": "c.125C>G",
"hgvs_p": "p.Ala42Gly",
"transcript": "ENST00000915697.1",
"protein_id": "ENSP00000585756.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 608,
"cds_start": 125,
"cds_end": null,
"cds_length": 1827,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915697.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPAP2",
"gene_hgnc_id": 25791,
"hgvs_c": "c.125C>G",
"hgvs_p": "p.Ala42Gly",
"transcript": "ENST00000885052.1",
"protein_id": "ENSP00000555111.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 589,
"cds_start": 125,
"cds_end": null,
"cds_length": 1770,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885052.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPAP2",
"gene_hgnc_id": 25791,
"hgvs_c": "c.125C>G",
"hgvs_p": "p.Ala42Gly",
"transcript": "ENST00000957710.1",
"protein_id": "ENSP00000627769.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 585,
"cds_start": 125,
"cds_end": null,
"cds_length": 1758,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957710.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPAP2",
"gene_hgnc_id": 25791,
"hgvs_c": "c.125C>G",
"hgvs_p": "p.Ala42Gly",
"transcript": "ENST00000915698.1",
"protein_id": "ENSP00000585757.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 260,
"cds_start": 125,
"cds_end": null,
"cds_length": 783,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915698.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPAP2",
"gene_hgnc_id": 25791,
"hgvs_c": "c.125C>G",
"hgvs_p": "p.Ala42Gly",
"transcript": "XM_047430820.1",
"protein_id": "XP_047286776.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 584,
"cds_start": 125,
"cds_end": null,
"cds_length": 1755,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430820.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPAP2",
"gene_hgnc_id": 25791,
"hgvs_c": "c.125C>G",
"hgvs_p": "p.Ala42Gly",
"transcript": "XM_017002363.3",
"protein_id": "XP_016857852.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 575,
"cds_start": 125,
"cds_end": null,
"cds_length": 1728,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017002363.3"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPAP2",
"gene_hgnc_id": 25791,
"hgvs_c": "c.125C>G",
"hgvs_p": "p.Ala42Gly",
"transcript": "XM_011542167.4",
"protein_id": "XP_011540469.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 569,
"cds_start": 125,
"cds_end": null,
"cds_length": 1710,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011542167.4"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPAP2",
"gene_hgnc_id": 25791,
"hgvs_c": "c.125C>G",
"hgvs_p": "p.Ala42Gly",
"transcript": "XM_017002364.3",
"protein_id": "XP_016857853.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 569,
"cds_start": 125,
"cds_end": null,
"cds_length": 1710,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017002364.3"
},
{
"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": 12,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "RPAP2",
"gene_hgnc_id": 25791,
"hgvs_c": "c.119+1242C>G",
"hgvs_p": null,
"transcript": "ENST00000957714.1",
"protein_id": "ENSP00000627773.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 570,
"cds_start": null,
"cds_end": null,
"cds_length": 1713,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957714.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GLMN",
"gene_hgnc_id": 14373,
"hgvs_c": "c.-30-3452G>C",
"hgvs_p": null,
"transcript": "XM_011540546.3",
"protein_id": "XP_011538848.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 594,
"cds_start": null,
"cds_end": null,
"cds_length": 1785,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011540546.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "RPAP2",
"gene_hgnc_id": 25791,
"hgvs_c": "n.108+1242C>G",
"hgvs_p": null,
"transcript": "ENST00000484158.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000484158.1"
}
],
"gene_symbol": "RPAP2",
"gene_hgnc_id": 25791,
"dbsnp": "rs1321372503",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.2078428864479065,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.05999999865889549,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.132,
"revel_prediction": "Benign",
"alphamissense_score": 0.1555,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.39,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.425,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.06,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_024813.3",
"gene_symbol": "RPAP2",
"hgnc_id": 25791,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.125C>G",
"hgvs_p": "p.Ala42Gly"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "XM_011540546.3",
"gene_symbol": "GLMN",
"hgnc_id": 14373,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.-30-3452G>C",
"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
}