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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: 16-57230715-T-TA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=57230715&ref=T&alt=TA&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 57230715,
"ref": "T",
"alt": "TA",
"effect": "frameshift_variant",
"transcript": "ENST00000394420.9",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "N?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RSPRY1",
"gene_hgnc_id": 29420,
"hgvs_c": "c.1279dupA",
"hgvs_p": "p.Thr427fs",
"transcript": "NM_133368.3",
"protein_id": "NP_588609.1",
"transcript_support_level": null,
"aa_start": 427,
"aa_end": null,
"aa_length": 576,
"cds_start": 1280,
"cds_end": null,
"cds_length": 1731,
"cdna_start": 1558,
"cdna_end": null,
"cdna_length": 3503,
"mane_select": "ENST00000394420.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N?",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RSPRY1",
"gene_hgnc_id": 29420,
"hgvs_c": "c.1279dupA",
"hgvs_p": "p.Thr427fs",
"transcript": "ENST00000394420.9",
"protein_id": "ENSP00000377942.4",
"transcript_support_level": 1,
"aa_start": 427,
"aa_end": null,
"aa_length": 576,
"cds_start": 1280,
"cds_end": null,
"cds_length": 1731,
"cdna_start": 1558,
"cdna_end": null,
"cdna_length": 3503,
"mane_select": "NM_133368.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RSPRY1",
"gene_hgnc_id": 29420,
"hgvs_c": "c.1279dupA",
"hgvs_p": "p.Thr427fs",
"transcript": "NM_001305163.2",
"protein_id": "NP_001292092.1",
"transcript_support_level": null,
"aa_start": 427,
"aa_end": null,
"aa_length": 576,
"cds_start": 1280,
"cds_end": null,
"cds_length": 1731,
"cdna_start": 2157,
"cdna_end": null,
"cdna_length": 4102,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RSPRY1",
"gene_hgnc_id": 29420,
"hgvs_c": "c.1279dupA",
"hgvs_p": "p.Thr427fs",
"transcript": "NM_001305164.2",
"protein_id": "NP_001292093.1",
"transcript_support_level": null,
"aa_start": 427,
"aa_end": null,
"aa_length": 576,
"cds_start": 1280,
"cds_end": null,
"cds_length": 1731,
"cdna_start": 1536,
"cdna_end": null,
"cdna_length": 3481,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RSPRY1",
"gene_hgnc_id": 29420,
"hgvs_c": "c.1279dupA",
"hgvs_p": "p.Thr427fs",
"transcript": "ENST00000537866.5",
"protein_id": "ENSP00000443176.1",
"transcript_support_level": 2,
"aa_start": 427,
"aa_end": null,
"aa_length": 576,
"cds_start": 1280,
"cds_end": null,
"cds_length": 1731,
"cdna_start": 2153,
"cdna_end": null,
"cdna_length": 3586,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RSPRY1",
"gene_hgnc_id": 29420,
"hgvs_c": "c.1372dupA",
"hgvs_p": "p.Thr458fs",
"transcript": "XM_011523427.3",
"protein_id": "XP_011521729.1",
"transcript_support_level": null,
"aa_start": 458,
"aa_end": null,
"aa_length": 607,
"cds_start": 1373,
"cds_end": null,
"cds_length": 1824,
"cdna_start": 1651,
"cdna_end": null,
"cdna_length": 3596,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RSPRY1",
"gene_hgnc_id": 29420,
"hgvs_c": "c.1372dupA",
"hgvs_p": "p.Thr458fs",
"transcript": "XM_011523428.3",
"protein_id": "XP_011521730.1",
"transcript_support_level": null,
"aa_start": 458,
"aa_end": null,
"aa_length": 607,
"cds_start": 1373,
"cds_end": null,
"cds_length": 1824,
"cdna_start": 1985,
"cdna_end": null,
"cdna_length": 3930,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RSPRY1",
"gene_hgnc_id": 29420,
"hgvs_c": "c.1372dupA",
"hgvs_p": "p.Thr458fs",
"transcript": "XM_011523430.2",
"protein_id": "XP_011521732.1",
"transcript_support_level": null,
"aa_start": 458,
"aa_end": null,
"aa_length": 607,
"cds_start": 1373,
"cds_end": null,
"cds_length": 1824,
"cdna_start": 1629,
"cdna_end": null,
"cdna_length": 3574,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RSPRY1",
"gene_hgnc_id": 29420,
"hgvs_c": "c.1372dupA",
"hgvs_p": "p.Thr458fs",
"transcript": "XM_024450482.2",
"protein_id": "XP_024306250.1",
"transcript_support_level": null,
"aa_start": 458,
"aa_end": null,
"aa_length": 607,
"cds_start": 1373,
"cds_end": null,
"cds_length": 1824,
"cdna_start": 2250,
"cdna_end": null,
"cdna_length": 4195,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RSPRY1",
"gene_hgnc_id": 29420,
"hgvs_c": "c.1372dupA",
"hgvs_p": "p.Thr458fs",
"transcript": "XM_024450483.2",
"protein_id": "XP_024306251.1",
"transcript_support_level": null,
"aa_start": 458,
"aa_end": null,
"aa_length": 607,
"cds_start": 1373,
"cds_end": null,
"cds_length": 1824,
"cdna_start": 1612,
"cdna_end": null,
"cdna_length": 3557,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RSPRY1",
"gene_hgnc_id": 29420,
"hgvs_c": "c.1372dupA",
"hgvs_p": "p.Thr458fs",
"transcript": "XM_047434853.1",
"protein_id": "XP_047290809.1",
"transcript_support_level": null,
"aa_start": 458,
"aa_end": null,
"aa_length": 607,
"cds_start": 1373,
"cds_end": null,
"cds_length": 1824,
"cdna_start": 2118,
"cdna_end": null,
"cdna_length": 4063,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RSPRY1",
"gene_hgnc_id": 29420,
"hgvs_c": "c.1372dupA",
"hgvs_p": "p.Thr458fs",
"transcript": "XM_047434854.1",
"protein_id": "XP_047290810.1",
"transcript_support_level": null,
"aa_start": 458,
"aa_end": null,
"aa_length": 607,
"cds_start": 1373,
"cds_end": null,
"cds_length": 1824,
"cdna_start": 2275,
"cdna_end": null,
"cdna_length": 4220,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RSPRY1",
"gene_hgnc_id": 29420,
"hgvs_c": "c.1279dupA",
"hgvs_p": "p.Thr427fs",
"transcript": "XM_005256220.3",
"protein_id": "XP_005256277.1",
"transcript_support_level": null,
"aa_start": 427,
"aa_end": null,
"aa_length": 576,
"cds_start": 1280,
"cds_end": null,
"cds_length": 1731,
"cdna_start": 1892,
"cdna_end": null,
"cdna_length": 3837,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RSPRY1",
"gene_hgnc_id": 29420,
"hgvs_c": "c.1279dupA",
"hgvs_p": "p.Thr427fs",
"transcript": "XM_024450484.2",
"protein_id": "XP_024306252.1",
"transcript_support_level": null,
"aa_start": 427,
"aa_end": null,
"aa_length": 576,
"cds_start": 1280,
"cds_end": null,
"cds_length": 1731,
"cdna_start": 1519,
"cdna_end": null,
"cdna_length": 3464,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RSPRY1",
"gene_hgnc_id": 29420,
"hgvs_c": "c.1279dupA",
"hgvs_p": "p.Thr427fs",
"transcript": "XM_047434855.1",
"protein_id": "XP_047290811.1",
"transcript_support_level": null,
"aa_start": 427,
"aa_end": null,
"aa_length": 576,
"cds_start": 1280,
"cds_end": null,
"cds_length": 1731,
"cdna_start": 2033,
"cdna_end": null,
"cdna_length": 3978,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RSPRY1",
"gene_hgnc_id": 29420,
"hgvs_c": "c.1279dupA",
"hgvs_p": "p.Thr427fs",
"transcript": "XM_047434856.1",
"protein_id": "XP_047290812.1",
"transcript_support_level": null,
"aa_start": 427,
"aa_end": null,
"aa_length": 576,
"cds_start": 1280,
"cds_end": null,
"cds_length": 1731,
"cdna_start": 1455,
"cdna_end": null,
"cdna_length": 3400,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RSPRY1",
"gene_hgnc_id": 29420,
"hgvs_c": "c.907dupA",
"hgvs_p": "p.Thr303fs",
"transcript": "XM_047434858.1",
"protein_id": "XP_047290814.1",
"transcript_support_level": null,
"aa_start": 303,
"aa_end": null,
"aa_length": 452,
"cds_start": 908,
"cds_end": null,
"cds_length": 1359,
"cdna_start": 2002,
"cdna_end": null,
"cdna_length": 3947,
"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": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RSPRY1",
"gene_hgnc_id": 29420,
"hgvs_c": "n.176dupA",
"hgvs_p": null,
"transcript": "ENST00000563073.1",
"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": 699,
"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": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RSPRY1",
"gene_hgnc_id": 29420,
"hgvs_c": "n.1438dupA",
"hgvs_p": null,
"transcript": "ENST00000564530.5",
"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": 3361,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "RSPRY1",
"gene_hgnc_id": 29420,
"dbsnp": "rs864309651",
"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": 0.03999999910593033,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 5.951,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.04,
"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": 11,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5",
"acmg_by_gene": [
{
"score": 11,
"benign_score": 0,
"pathogenic_score": 11,
"criteria": [
"PVS1",
"PM2",
"PP5"
],
"verdict": "Pathogenic",
"transcript": "ENST00000394420.9",
"gene_symbol": "RSPRY1",
"hgnc_id": 29420,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1279dupA",
"hgvs_p": "p.Thr427fs"
}
],
"clinvar_disease": "Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}