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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: 19-17862107-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=17862107&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 17862107,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_000980.4",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL18A",
"gene_hgnc_id": 10311,
"hgvs_c": "c.212C>G",
"hgvs_p": "p.Ser71Cys",
"transcript": "NM_000980.4",
"protein_id": "NP_000971.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 176,
"cds_start": 212,
"cds_end": null,
"cds_length": 531,
"cdna_start": 259,
"cdna_end": null,
"cdna_length": 634,
"mane_select": "ENST00000222247.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL18A",
"gene_hgnc_id": 10311,
"hgvs_c": "c.212C>G",
"hgvs_p": "p.Ser71Cys",
"transcript": "ENST00000222247.10",
"protein_id": "ENSP00000222247.4",
"transcript_support_level": 1,
"aa_start": 71,
"aa_end": null,
"aa_length": 176,
"cds_start": 212,
"cds_end": null,
"cds_length": 531,
"cdna_start": 259,
"cdna_end": null,
"cdna_length": 634,
"mane_select": "NM_000980.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL18A",
"gene_hgnc_id": 10311,
"hgvs_c": "c.212C>G",
"hgvs_p": "p.Ser71Cys",
"transcript": "ENST00000600147.5",
"protein_id": "ENSP00000471584.1",
"transcript_support_level": 5,
"aa_start": 71,
"aa_end": null,
"aa_length": 154,
"cds_start": 212,
"cds_end": null,
"cds_length": 465,
"cdna_start": 248,
"cdna_end": null,
"cdna_length": 1391,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL18A",
"gene_hgnc_id": 10311,
"hgvs_c": "c.125C>G",
"hgvs_p": "p.Ser42Cys",
"transcript": "ENST00000599870.1",
"protein_id": "ENSP00000471748.1",
"transcript_support_level": 2,
"aa_start": 42,
"aa_end": null,
"aa_length": 147,
"cds_start": 125,
"cds_end": null,
"cds_length": 444,
"cdna_start": 724,
"cdna_end": null,
"cdna_length": 1084,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL18A",
"gene_hgnc_id": 10311,
"hgvs_c": "c.125C>G",
"hgvs_p": "p.Ser42Cys",
"transcript": "ENST00000597648.5",
"protein_id": "ENSP00000473155.1",
"transcript_support_level": 3,
"aa_start": 42,
"aa_end": null,
"aa_length": 140,
"cds_start": 125,
"cds_end": null,
"cds_length": 424,
"cdna_start": 384,
"cdna_end": null,
"cdna_length": 683,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL18A",
"gene_hgnc_id": 10311,
"hgvs_c": "c.95C>G",
"hgvs_p": "p.Ser32Cys",
"transcript": "ENST00000599898.5",
"protein_id": "ENSP00000471360.1",
"transcript_support_level": 2,
"aa_start": 32,
"aa_end": null,
"aa_length": 137,
"cds_start": 95,
"cds_end": null,
"cds_length": 414,
"cdna_start": 120,
"cdna_end": null,
"cdna_length": 491,
"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": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL18A",
"gene_hgnc_id": 10311,
"hgvs_c": "n.154C>G",
"hgvs_p": null,
"transcript": "ENST00000600238.1",
"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": 954,
"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": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL18A",
"gene_hgnc_id": 10311,
"hgvs_c": "n.837C>G",
"hgvs_p": null,
"transcript": "ENST00000602216.1",
"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": 907,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "RPL18A",
"gene_hgnc_id": 10311,
"dbsnp": "rs199974927",
"frequency_reference_population": 0.000011647266,
"hom_count_reference_population": 0,
"allele_count_reference_population": 17,
"gnomad_exomes_af": 0.0000116473,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 17,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.38376712799072266,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.075,
"revel_prediction": "Benign",
"alphamissense_score": 0.1238,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.29,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.652,
"phylop100way_prediction": "Uncertain_significance",
"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": -3,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM1,BP4,BS2",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 5,
"pathogenic_score": 2,
"criteria": [
"PM1",
"BP4",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_000980.4",
"gene_symbol": "RPL18A",
"hgnc_id": 10311,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.212C>G",
"hgvs_p": "p.Ser71Cys"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}