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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: 19-48867592-AGGCTGCTGC-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=48867592&ref=AGGCTGCTGC&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 48867592,
"ref": "AGGCTGCTGC",
"alt": "A",
"effect": "disruptive_inframe_deletion",
"transcript": "ENST00000263265.11",
"consequences": [
{
"aa_ref": "RSSL",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHA4",
"gene_hgnc_id": 14339,
"hgvs_c": "c.20_28delGCAGCAGCC",
"hgvs_p": "p.Arg7_Ser9del",
"transcript": "NM_020904.3",
"protein_id": "NP_065955.2",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 779,
"cds_start": 20,
"cds_end": null,
"cds_length": 2340,
"cdna_start": 569,
"cdna_end": null,
"cdna_length": 3073,
"mane_select": "ENST00000263265.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "RSSL",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHA4",
"gene_hgnc_id": 14339,
"hgvs_c": "c.20_28delGCAGCAGCC",
"hgvs_p": "p.Arg7_Ser9del",
"transcript": "ENST00000263265.11",
"protein_id": "ENSP00000263265.5",
"transcript_support_level": 1,
"aa_start": 7,
"aa_end": null,
"aa_length": 779,
"cds_start": 20,
"cds_end": null,
"cds_length": 2340,
"cdna_start": 569,
"cdna_end": null,
"cdna_length": 3073,
"mane_select": "NM_020904.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "RSSL",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHA4",
"gene_hgnc_id": 14339,
"hgvs_c": "c.20_28delGCAGCAGCC",
"hgvs_p": "p.Arg7_Ser9del",
"transcript": "ENST00000355496.9",
"protein_id": "ENSP00000347683.4",
"transcript_support_level": 1,
"aa_start": 7,
"aa_end": null,
"aa_length": 583,
"cds_start": 20,
"cds_end": null,
"cds_length": 1752,
"cdna_start": 406,
"cdna_end": null,
"cdna_length": 2614,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "RSSL",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHA4",
"gene_hgnc_id": 14339,
"hgvs_c": "c.20_28delGCAGCAGCC",
"hgvs_p": "p.Arg7_Ser9del",
"transcript": "NM_001438306.1",
"protein_id": "NP_001425235.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 783,
"cds_start": 20,
"cds_end": null,
"cds_length": 2352,
"cdna_start": 569,
"cdna_end": null,
"cdna_length": 3085,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "RSSL",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHA4",
"gene_hgnc_id": 14339,
"hgvs_c": "c.20_28delGCAGCAGCC",
"hgvs_p": "p.Arg7_Ser9del",
"transcript": "NM_001438307.1",
"protein_id": "NP_001425236.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 754,
"cds_start": 20,
"cds_end": null,
"cds_length": 2265,
"cdna_start": 569,
"cdna_end": null,
"cdna_length": 2998,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "RSSL",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHA4",
"gene_hgnc_id": 14339,
"hgvs_c": "c.20_28delGCAGCAGCC",
"hgvs_p": "p.Arg7_Ser9del",
"transcript": "ENST00000594100.2",
"protein_id": "ENSP00000471274.2",
"transcript_support_level": 3,
"aa_start": 7,
"aa_end": null,
"aa_length": 747,
"cds_start": 20,
"cds_end": null,
"cds_length": 2244,
"cdna_start": 521,
"cdna_end": null,
"cdna_length": 2934,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "RSSL",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHA4",
"gene_hgnc_id": 14339,
"hgvs_c": "c.20_28delGCAGCAGCC",
"hgvs_p": "p.Arg7_Ser9del",
"transcript": "NM_001438308.1",
"protein_id": "NP_001425237.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 743,
"cds_start": 20,
"cds_end": null,
"cds_length": 2232,
"cdna_start": 569,
"cdna_end": null,
"cdna_length": 2965,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "RSSL",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHA4",
"gene_hgnc_id": 14339,
"hgvs_c": "c.20_28delGCAGCAGCC",
"hgvs_p": "p.Arg7_Ser9del",
"transcript": "NM_001161354.2",
"protein_id": "NP_001154826.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 583,
"cds_start": 20,
"cds_end": null,
"cds_length": 1752,
"cdna_start": 569,
"cdna_end": null,
"cdna_length": 2777,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "RSSL",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHA4",
"gene_hgnc_id": 14339,
"hgvs_c": "c.20_28delGCAGCAGCC",
"hgvs_p": "p.Arg7_Ser9del",
"transcript": "XM_011527158.4",
"protein_id": "XP_011525460.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 747,
"cds_start": 20,
"cds_end": null,
"cds_length": 2244,
"cdna_start": 569,
"cdna_end": null,
"cdna_length": 2977,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "RSSL",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHA4",
"gene_hgnc_id": 14339,
"hgvs_c": "c.20_28delGCAGCAGCC",
"hgvs_p": "p.Arg7_Ser9del",
"transcript": "XM_047439136.1",
"protein_id": "XP_047295092.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 718,
"cds_start": 20,
"cds_end": null,
"cds_length": 2157,
"cdna_start": 569,
"cdna_end": null,
"cdna_length": 2890,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "RSSL",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHA4",
"gene_hgnc_id": 14339,
"hgvs_c": "c.20_28delGCAGCAGCC",
"hgvs_p": "p.Arg7_Ser9del",
"transcript": "XM_047439137.1",
"protein_id": "XP_047295093.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 666,
"cds_start": 20,
"cds_end": null,
"cds_length": 2001,
"cdna_start": 569,
"cdna_end": null,
"cdna_length": 2568,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "RSSL",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHA4",
"gene_hgnc_id": 14339,
"hgvs_c": "c.20_28delGCAGCAGCC",
"hgvs_p": "p.Arg7_Ser9del",
"transcript": "XM_047439138.1",
"protein_id": "XP_047295094.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 637,
"cds_start": 20,
"cds_end": null,
"cds_length": 1914,
"cdna_start": 569,
"cdna_end": null,
"cdna_length": 2481,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHA4",
"gene_hgnc_id": 14339,
"hgvs_c": "n.526_534delGCAGCAGCC",
"hgvs_p": null,
"transcript": "ENST00000706736.1",
"protein_id": null,
"transcript_support_level": null,
"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": 4580,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHA4",
"gene_hgnc_id": 14339,
"hgvs_c": "n.20_28delGCAGCAGCC",
"hgvs_p": null,
"transcript": "ENST00000706738.1",
"protein_id": "ENSP00000516522.1",
"transcript_support_level": null,
"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": 2103,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHA4",
"gene_hgnc_id": 14339,
"hgvs_c": "n.294_302delGCAGCAGCC",
"hgvs_p": null,
"transcript": "ENST00000706740.1",
"protein_id": null,
"transcript_support_level": null,
"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": 714,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHA4",
"gene_hgnc_id": 14339,
"hgvs_c": "c.-114_-106delGCAGCAGCC",
"hgvs_p": null,
"transcript": "XM_011527159.2",
"protein_id": "XP_011525461.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 743,
"cds_start": -4,
"cds_end": null,
"cds_length": 2232,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2563,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "PLEKHA4",
"gene_hgnc_id": 14339,
"dbsnp": "rs193920946",
"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": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 3.878,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PM4",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PM4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000263265.11",
"gene_symbol": "PLEKHA4",
"hgnc_id": 14339,
"effects": [
"disruptive_inframe_deletion"
],
"inheritance_mode": "AR",
"hgvs_c": "c.20_28delGCAGCAGCC",
"hgvs_p": "p.Arg7_Ser9del"
}
],
"clinvar_disease": "Prostate cancer",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Prostate cancer",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}