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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: 1-26557097-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=26557097&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 26557097,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001006665.2",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "E",
"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.1081A>G",
"hgvs_p": "p.Lys361Glu",
"transcript": "NM_002953.4",
"protein_id": "NP_002944.2",
"transcript_support_level": null,
"aa_start": 361,
"aa_end": null,
"aa_length": 735,
"cds_start": 1081,
"cds_end": null,
"cds_length": 2208,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000374168.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002953.4"
},
{
"aa_ref": "K",
"aa_alt": "E",
"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.1081A>G",
"hgvs_p": "p.Lys361Glu",
"transcript": "ENST00000374168.7",
"protein_id": "ENSP00000363283.2",
"transcript_support_level": 1,
"aa_start": 361,
"aa_end": null,
"aa_length": 735,
"cds_start": 1081,
"cds_end": null,
"cds_length": 2208,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002953.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000374168.7"
},
{
"aa_ref": "K",
"aa_alt": "E",
"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.1108A>G",
"hgvs_p": "p.Lys370Glu",
"transcript": "NM_001006665.2",
"protein_id": "NP_001006666.1",
"transcript_support_level": null,
"aa_start": 370,
"aa_end": null,
"aa_length": 744,
"cds_start": 1108,
"cds_end": null,
"cds_length": 2235,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001006665.2"
},
{
"aa_ref": "K",
"aa_alt": "E",
"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.1108A>G",
"hgvs_p": "p.Lys370Glu",
"transcript": "ENST00000531382.5",
"protein_id": "ENSP00000435412.1",
"transcript_support_level": 2,
"aa_start": 370,
"aa_end": null,
"aa_length": 744,
"cds_start": 1108,
"cds_end": null,
"cds_length": 2235,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000531382.5"
},
{
"aa_ref": "K",
"aa_alt": "E",
"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.1081A>G",
"hgvs_p": "p.Lys361Glu",
"transcript": "ENST00000952528.1",
"protein_id": "ENSP00000622587.1",
"transcript_support_level": null,
"aa_start": 361,
"aa_end": null,
"aa_length": 742,
"cds_start": 1081,
"cds_end": null,
"cds_length": 2229,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952528.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"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.1078A>G",
"hgvs_p": "p.Lys360Glu",
"transcript": "ENST00000952527.1",
"protein_id": "ENSP00000622586.1",
"transcript_support_level": null,
"aa_start": 360,
"aa_end": null,
"aa_length": 734,
"cds_start": 1078,
"cds_end": null,
"cds_length": 2205,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952527.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"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.1048A>G",
"hgvs_p": "p.Lys350Glu",
"transcript": "ENST00000374166.8",
"protein_id": "ENSP00000363281.4",
"transcript_support_level": 5,
"aa_start": 350,
"aa_end": null,
"aa_length": 724,
"cds_start": 1048,
"cds_end": null,
"cds_length": 2175,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000374166.8"
},
{
"aa_ref": "K",
"aa_alt": "E",
"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.1033A>G",
"hgvs_p": "p.Lys345Glu",
"transcript": "NM_001330441.2",
"protein_id": "NP_001317370.1",
"transcript_support_level": null,
"aa_start": 345,
"aa_end": null,
"aa_length": 719,
"cds_start": 1033,
"cds_end": null,
"cds_length": 2160,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330441.2"
},
{
"aa_ref": "K",
"aa_alt": "E",
"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.1033A>G",
"hgvs_p": "p.Lys345Glu",
"transcript": "ENST00000530003.5",
"protein_id": "ENSP00000432281.1",
"transcript_support_level": 5,
"aa_start": 345,
"aa_end": null,
"aa_length": 719,
"cds_start": 1033,
"cds_end": null,
"cds_length": 2160,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000530003.5"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA1",
"gene_hgnc_id": 10430,
"hgvs_c": "c.1081A>G",
"hgvs_p": "p.Lys361Glu",
"transcript": "ENST00000892920.1",
"protein_id": "ENSP00000562979.1",
"transcript_support_level": null,
"aa_start": 361,
"aa_end": null,
"aa_length": 682,
"cds_start": 1081,
"cds_end": null,
"cds_length": 2049,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892920.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"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.805A>G",
"hgvs_p": "p.Lys269Glu",
"transcript": "ENST00000526792.5",
"protein_id": "ENSP00000431651.1",
"transcript_support_level": 5,
"aa_start": 269,
"aa_end": null,
"aa_length": 643,
"cds_start": 805,
"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": "ENST00000526792.5"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA1",
"gene_hgnc_id": 10430,
"hgvs_c": "c.55A>G",
"hgvs_p": "p.Lys19Glu",
"transcript": "ENST00000403732.2",
"protein_id": "ENSP00000383967.2",
"transcript_support_level": 5,
"aa_start": 19,
"aa_end": null,
"aa_length": 165,
"cds_start": 55,
"cds_end": null,
"cds_length": 498,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000403732.2"
},
{
"aa_ref": "K",
"aa_alt": "E",
"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.805A>G",
"hgvs_p": "p.Lys269Glu",
"transcript": "XM_024448871.2",
"protein_id": "XP_024304639.1",
"transcript_support_level": null,
"aa_start": 269,
"aa_end": null,
"aa_length": 643,
"cds_start": 805,
"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": "XM_024448871.2"
},
{
"aa_ref": "K",
"aa_alt": "E",
"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.1108A>G",
"hgvs_p": "p.Lys370Glu",
"transcript": "XM_047427258.1",
"protein_id": "XP_047283214.1",
"transcript_support_level": null,
"aa_start": 370,
"aa_end": null,
"aa_length": 584,
"cds_start": 1108,
"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_047427258.1"
},
{
"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.*572A>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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000374163.5"
},
{
"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.1033A>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": 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": "ENST00000531113.5"
},
{
"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.*572A>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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000374163.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_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": "n.*61A>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": 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": "ENST00000488985.1"
}
],
"gene_symbol": "RPS6KA1",
"gene_hgnc_id": 10430,
"dbsnp": "rs779910630",
"frequency_reference_population": 0.000024246192,
"hom_count_reference_population": 0,
"allele_count_reference_population": 39,
"gnomad_exomes_af": 0.0000247181,
"gnomad_genomes_af": 0.0000197267,
"gnomad_exomes_ac": 36,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.23583555221557617,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.157,
"revel_prediction": "Benign",
"alphamissense_score": 0.5222,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.28,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.886,
"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": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_001006665.2",
"gene_symbol": "RPS6KA1",
"hgnc_id": 10430,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1108A>G",
"hgvs_p": "p.Lys370Glu"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}