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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: 1-26557020-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=26557020&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 26557020,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000374168.7",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA1",
"gene_hgnc_id": 10430,
"hgvs_c": "c.1004A>G",
"hgvs_p": "p.Lys335Arg",
"transcript": "NM_002953.4",
"protein_id": "NP_002944.2",
"transcript_support_level": null,
"aa_start": 335,
"aa_end": null,
"aa_length": 735,
"cds_start": 1004,
"cds_end": null,
"cds_length": 2208,
"cdna_start": 1164,
"cdna_end": null,
"cdna_length": 3192,
"mane_select": "ENST00000374168.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA1",
"gene_hgnc_id": 10430,
"hgvs_c": "c.1004A>G",
"hgvs_p": "p.Lys335Arg",
"transcript": "ENST00000374168.7",
"protein_id": "ENSP00000363283.2",
"transcript_support_level": 1,
"aa_start": 335,
"aa_end": null,
"aa_length": 735,
"cds_start": 1004,
"cds_end": null,
"cds_length": 2208,
"cdna_start": 1164,
"cdna_end": null,
"cdna_length": 3192,
"mane_select": "NM_002953.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA1",
"gene_hgnc_id": 10430,
"hgvs_c": "c.1031A>G",
"hgvs_p": "p.Lys344Arg",
"transcript": "NM_001006665.2",
"protein_id": "NP_001006666.1",
"transcript_support_level": null,
"aa_start": 344,
"aa_end": null,
"aa_length": 744,
"cds_start": 1031,
"cds_end": null,
"cds_length": 2235,
"cdna_start": 1090,
"cdna_end": null,
"cdna_length": 3118,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA1",
"gene_hgnc_id": 10430,
"hgvs_c": "c.1031A>G",
"hgvs_p": "p.Lys344Arg",
"transcript": "ENST00000531382.5",
"protein_id": "ENSP00000435412.1",
"transcript_support_level": 2,
"aa_start": 344,
"aa_end": null,
"aa_length": 744,
"cds_start": 1031,
"cds_end": null,
"cds_length": 2235,
"cdna_start": 1080,
"cdna_end": null,
"cdna_length": 2359,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA1",
"gene_hgnc_id": 10430,
"hgvs_c": "c.971A>G",
"hgvs_p": "p.Lys324Arg",
"transcript": "ENST00000374166.8",
"protein_id": "ENSP00000363281.4",
"transcript_support_level": 5,
"aa_start": 324,
"aa_end": null,
"aa_length": 724,
"cds_start": 971,
"cds_end": null,
"cds_length": 2175,
"cdna_start": 1114,
"cdna_end": null,
"cdna_length": 3131,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA1",
"gene_hgnc_id": 10430,
"hgvs_c": "c.956A>G",
"hgvs_p": "p.Lys319Arg",
"transcript": "NM_001330441.2",
"protein_id": "NP_001317370.1",
"transcript_support_level": null,
"aa_start": 319,
"aa_end": null,
"aa_length": 719,
"cds_start": 956,
"cds_end": null,
"cds_length": 2160,
"cdna_start": 1006,
"cdna_end": null,
"cdna_length": 3034,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA1",
"gene_hgnc_id": 10430,
"hgvs_c": "c.956A>G",
"hgvs_p": "p.Lys319Arg",
"transcript": "ENST00000530003.5",
"protein_id": "ENSP00000432281.1",
"transcript_support_level": 5,
"aa_start": 319,
"aa_end": null,
"aa_length": 719,
"cds_start": 956,
"cds_end": null,
"cds_length": 2160,
"cdna_start": 1006,
"cdna_end": null,
"cdna_length": 3023,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA1",
"gene_hgnc_id": 10430,
"hgvs_c": "c.728A>G",
"hgvs_p": "p.Lys243Arg",
"transcript": "ENST00000526792.5",
"protein_id": "ENSP00000431651.1",
"transcript_support_level": 5,
"aa_start": 243,
"aa_end": null,
"aa_length": 643,
"cds_start": 728,
"cds_end": null,
"cds_length": 1932,
"cdna_start": 1162,
"cdna_end": null,
"cdna_length": 2596,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA1",
"gene_hgnc_id": 10430,
"hgvs_c": "c.728A>G",
"hgvs_p": "p.Lys243Arg",
"transcript": "XM_024448871.2",
"protein_id": "XP_024304639.1",
"transcript_support_level": null,
"aa_start": 243,
"aa_end": null,
"aa_length": 643,
"cds_start": 728,
"cds_end": null,
"cds_length": 1932,
"cdna_start": 979,
"cdna_end": null,
"cdna_length": 3007,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA1",
"gene_hgnc_id": 10430,
"hgvs_c": "c.1031A>G",
"hgvs_p": "p.Lys344Arg",
"transcript": "XM_047427258.1",
"protein_id": "XP_047283214.1",
"transcript_support_level": null,
"aa_start": 344,
"aa_end": null,
"aa_length": 584,
"cds_start": 1031,
"cds_end": null,
"cds_length": 1755,
"cdna_start": 1090,
"cdna_end": null,
"cdna_length": 1842,
"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": 13,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA1",
"gene_hgnc_id": 10430,
"hgvs_c": "n.*495A>G",
"hgvs_p": null,
"transcript": "ENST00000374163.5",
"protein_id": "ENSP00000363278.1",
"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": 3202,
"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": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA1",
"gene_hgnc_id": 10430,
"hgvs_c": "n.288A>G",
"hgvs_p": null,
"transcript": "ENST00000488985.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 304,
"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": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA1",
"gene_hgnc_id": 10430,
"hgvs_c": "n.956A>G",
"hgvs_p": null,
"transcript": "ENST00000531113.5",
"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": 2089,
"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": 13,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA1",
"gene_hgnc_id": 10430,
"hgvs_c": "n.*495A>G",
"hgvs_p": null,
"transcript": "ENST00000374163.5",
"protein_id": "ENSP00000363278.1",
"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": 3202,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA1",
"gene_hgnc_id": 10430,
"hgvs_c": "c.-23A>G",
"hgvs_p": null,
"transcript": "ENST00000403732.2",
"protein_id": "ENSP00000383967.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 165,
"cds_start": -4,
"cds_end": null,
"cds_length": 498,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 498,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "RPS6KA1",
"gene_hgnc_id": 10430,
"dbsnp": "rs2229712",
"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": 0.23405194282531738,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.109,
"revel_prediction": "Benign",
"alphamissense_score": 0.0804,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.32,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.206,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.01,
"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": "ENST00000374168.7",
"gene_symbol": "RPS6KA1",
"hgnc_id": 10430,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1004A>G",
"hgvs_p": "p.Lys335Arg"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}