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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: 19-1440069-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=1440069&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 1440069,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001308226.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS15",
"gene_hgnc_id": 10388,
"hgvs_c": "c.140G>C",
"hgvs_p": "p.Arg47Pro",
"transcript": "NM_001018.5",
"protein_id": "NP_001009.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 145,
"cds_start": 140,
"cds_end": null,
"cds_length": 438,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000592588.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001018.5"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS15",
"gene_hgnc_id": 10388,
"hgvs_c": "c.140G>C",
"hgvs_p": "p.Arg47Pro",
"transcript": "ENST00000592588.7",
"protein_id": "ENSP00000467466.3",
"transcript_support_level": 1,
"aa_start": 47,
"aa_end": null,
"aa_length": 145,
"cds_start": 140,
"cds_end": null,
"cds_length": 438,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001018.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000592588.7"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS15",
"gene_hgnc_id": 10388,
"hgvs_c": "c.59G>C",
"hgvs_p": "p.Arg20Pro",
"transcript": "ENST00000592623.5",
"protein_id": "ENSP00000474433.2",
"transcript_support_level": 1,
"aa_start": 20,
"aa_end": null,
"aa_length": 118,
"cds_start": 59,
"cds_end": null,
"cds_length": 357,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000592623.5"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS15",
"gene_hgnc_id": 10388,
"hgvs_c": "c.161G>C",
"hgvs_p": "p.Arg54Pro",
"transcript": "NM_001308226.2",
"protein_id": "NP_001295155.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 152,
"cds_start": 161,
"cds_end": null,
"cds_length": 459,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001308226.2"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS15",
"gene_hgnc_id": 10388,
"hgvs_c": "c.161G>C",
"hgvs_p": "p.Arg54Pro",
"transcript": "ENST00000593052.5",
"protein_id": "ENSP00000466010.1",
"transcript_support_level": 2,
"aa_start": 54,
"aa_end": null,
"aa_length": 152,
"cds_start": 161,
"cds_end": null,
"cds_length": 459,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000593052.5"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS15",
"gene_hgnc_id": 10388,
"hgvs_c": "c.140G>C",
"hgvs_p": "p.Arg47Pro",
"transcript": "ENST00000927775.1",
"protein_id": "ENSP00000597834.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 143,
"cds_start": 140,
"cds_end": null,
"cds_length": 432,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927775.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS15",
"gene_hgnc_id": 10388,
"hgvs_c": "c.140G>C",
"hgvs_p": "p.Arg47Pro",
"transcript": "ENST00000589656.6",
"protein_id": "ENSP00000467855.2",
"transcript_support_level": 5,
"aa_start": 47,
"aa_end": null,
"aa_length": 141,
"cds_start": 140,
"cds_end": null,
"cds_length": 426,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000589656.6"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS15",
"gene_hgnc_id": 10388,
"hgvs_c": "c.110G>C",
"hgvs_p": "p.Arg37Pro",
"transcript": "ENST00000591032.1",
"protein_id": "ENSP00000474970.2",
"transcript_support_level": 3,
"aa_start": 37,
"aa_end": null,
"aa_length": 135,
"cds_start": 110,
"cds_end": null,
"cds_length": 408,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000591032.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS15",
"gene_hgnc_id": 10388,
"hgvs_c": "c.140G>C",
"hgvs_p": "p.Arg47Pro",
"transcript": "ENST00000586096.3",
"protein_id": "ENSP00000465055.2",
"transcript_support_level": 2,
"aa_start": 47,
"aa_end": null,
"aa_length": 129,
"cds_start": 140,
"cds_end": null,
"cds_length": 390,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000586096.3"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS15",
"gene_hgnc_id": 10388,
"hgvs_c": "c.140G>C",
"hgvs_p": "p.Arg47Pro",
"transcript": "ENST00000927776.1",
"protein_id": "ENSP00000597835.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 129,
"cds_start": 140,
"cds_end": null,
"cds_length": 390,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927776.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS15",
"gene_hgnc_id": 10388,
"hgvs_c": "c.59G>C",
"hgvs_p": "p.Arg20Pro",
"transcript": "ENST00000233609.8",
"protein_id": "ENSP00000473953.1",
"transcript_support_level": 2,
"aa_start": 20,
"aa_end": null,
"aa_length": 118,
"cds_start": 59,
"cds_end": null,
"cds_length": 357,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000233609.8"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS15",
"gene_hgnc_id": 10388,
"hgvs_c": "c.41G>C",
"hgvs_p": "p.Arg14Pro",
"transcript": "ENST00000585665.2",
"protein_id": "ENSP00000466366.2",
"transcript_support_level": 3,
"aa_start": 14,
"aa_end": null,
"aa_length": 112,
"cds_start": 41,
"cds_end": null,
"cds_length": 339,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000585665.2"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS15",
"gene_hgnc_id": 10388,
"hgvs_c": "c.41G>C",
"hgvs_p": "p.Arg14Pro",
"transcript": "ENST00000586686.6",
"protein_id": "ENSP00000467676.2",
"transcript_support_level": 5,
"aa_start": 14,
"aa_end": null,
"aa_length": 112,
"cds_start": 41,
"cds_end": null,
"cds_length": 339,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000586686.6"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS15",
"gene_hgnc_id": 10388,
"hgvs_c": "c.41G>C",
"hgvs_p": "p.Arg14Pro",
"transcript": "ENST00000591804.6",
"protein_id": "ENSP00000474543.1",
"transcript_support_level": 5,
"aa_start": 14,
"aa_end": null,
"aa_length": 112,
"cds_start": 41,
"cds_end": null,
"cds_length": 339,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000591804.6"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS15",
"gene_hgnc_id": 10388,
"hgvs_c": "c.41G>C",
"hgvs_p": "p.Arg14Pro",
"transcript": "ENST00000586656.5",
"protein_id": "ENSP00000475096.1",
"transcript_support_level": 3,
"aa_start": 14,
"aa_end": null,
"aa_length": 67,
"cds_start": 41,
"cds_end": null,
"cds_length": 205,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000586656.5"
},
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS15",
"gene_hgnc_id": 10388,
"hgvs_c": "n.1272G>C",
"hgvs_p": null,
"transcript": "ENST00000592700.2",
"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": "retained_intron",
"feature": "ENST00000592700.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS15",
"gene_hgnc_id": 10388,
"hgvs_c": "c.*20G>C",
"hgvs_p": null,
"transcript": "ENST00000617694.4",
"protein_id": "ENSP00000483399.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 6,
"cds_start": null,
"cds_end": null,
"cds_length": 21,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000617694.4"
}
],
"gene_symbol": "RPS15",
"gene_hgnc_id": 10388,
"dbsnp": "rs201657403",
"frequency_reference_population": 0.000079698206,
"hom_count_reference_population": 0,
"allele_count_reference_population": 12,
"gnomad_exomes_af": 0.109636,
"gnomad_genomes_af": 0.0000796982,
"gnomad_exomes_ac": 99241,
"gnomad_genomes_ac": 12,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0024139881134033203,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.264,
"revel_prediction": "Benign",
"alphamissense_score": 0.9946,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.01,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 9.321,
"phylop100way_prediction": "Pathogenic",
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong"
],
"verdict": "Benign",
"transcript": "NM_001308226.2",
"gene_symbol": "RPS15",
"hgnc_id": 10388,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.161G>C",
"hgvs_p": "p.Arg54Pro"
}
],
"clinvar_disease": "RPS15-related disorder,not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:3",
"phenotype_combined": "not specified|not provided|RPS15-related disorder",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}