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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: 2-43823981-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=43823981&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 43823981,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000405322.8",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCG5",
"gene_hgnc_id": 13886,
"hgvs_c": "c.1256G>C",
"hgvs_p": "p.Arg419Pro",
"transcript": "NM_022436.3",
"protein_id": "NP_071881.1",
"transcript_support_level": null,
"aa_start": 419,
"aa_end": null,
"aa_length": 651,
"cds_start": 1256,
"cds_end": null,
"cds_length": 1956,
"cdna_start": 1416,
"cdna_end": null,
"cdna_length": 2760,
"mane_select": "ENST00000405322.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCG5",
"gene_hgnc_id": 13886,
"hgvs_c": "c.1256G>C",
"hgvs_p": "p.Arg419Pro",
"transcript": "ENST00000405322.8",
"protein_id": "ENSP00000384513.2",
"transcript_support_level": 1,
"aa_start": 419,
"aa_end": null,
"aa_length": 651,
"cds_start": 1256,
"cds_end": null,
"cds_length": 1956,
"cdna_start": 1416,
"cdna_end": null,
"cdna_length": 2760,
"mane_select": "NM_022436.3",
"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": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCG5",
"gene_hgnc_id": 13886,
"hgvs_c": "n.1777G>C",
"hgvs_p": null,
"transcript": "ENST00000486512.5",
"protein_id": null,
"transcript_support_level": 1,
"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": 3033,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCG5",
"gene_hgnc_id": 13886,
"hgvs_c": "c.1256G>C",
"hgvs_p": "p.Arg419Pro",
"transcript": "XM_006712073.4",
"protein_id": "XP_006712136.1",
"transcript_support_level": null,
"aa_start": 419,
"aa_end": null,
"aa_length": 593,
"cds_start": 1256,
"cds_end": null,
"cds_length": 1782,
"cdna_start": 1416,
"cdna_end": null,
"cdna_length": 2123,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCG5",
"gene_hgnc_id": 13886,
"hgvs_c": "c.1013G>C",
"hgvs_p": "p.Arg338Pro",
"transcript": "XM_011533025.4",
"protein_id": "XP_011531327.1",
"transcript_support_level": null,
"aa_start": 338,
"aa_end": null,
"aa_length": 570,
"cds_start": 1013,
"cds_end": null,
"cds_length": 1713,
"cdna_start": 1916,
"cdna_end": null,
"cdna_length": 3260,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCG5",
"gene_hgnc_id": 13886,
"hgvs_c": "c.1013G>C",
"hgvs_p": "p.Arg338Pro",
"transcript": "XM_047445409.1",
"protein_id": "XP_047301365.1",
"transcript_support_level": null,
"aa_start": 338,
"aa_end": null,
"aa_length": 570,
"cds_start": 1013,
"cds_end": null,
"cds_length": 1713,
"cdna_start": 1498,
"cdna_end": null,
"cdna_length": 2842,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCG5",
"gene_hgnc_id": 13886,
"hgvs_c": "c.986G>C",
"hgvs_p": "p.Arg329Pro",
"transcript": "XM_011533026.3",
"protein_id": "XP_011531328.1",
"transcript_support_level": null,
"aa_start": 329,
"aa_end": null,
"aa_length": 561,
"cds_start": 986,
"cds_end": null,
"cds_length": 1686,
"cdna_start": 1146,
"cdna_end": null,
"cdna_length": 2490,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCG5",
"gene_hgnc_id": 13886,
"hgvs_c": "c.1256G>C",
"hgvs_p": "p.Arg419Pro",
"transcript": "XM_005264480.5",
"protein_id": "XP_005264537.1",
"transcript_support_level": null,
"aa_start": 419,
"aa_end": null,
"aa_length": 558,
"cds_start": 1256,
"cds_end": null,
"cds_length": 1677,
"cdna_start": 1416,
"cdna_end": null,
"cdna_length": 2647,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCG5",
"gene_hgnc_id": 13886,
"hgvs_c": "c.743G>C",
"hgvs_p": "p.Arg248Pro",
"transcript": "XM_011533027.4",
"protein_id": "XP_011531329.1",
"transcript_support_level": null,
"aa_start": 248,
"aa_end": null,
"aa_length": 480,
"cds_start": 743,
"cds_end": null,
"cds_length": 1443,
"cdna_start": 1761,
"cdna_end": null,
"cdna_length": 3105,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCG5",
"gene_hgnc_id": 13886,
"hgvs_c": "c.743G>C",
"hgvs_p": "p.Arg248Pro",
"transcript": "XM_047445410.1",
"protein_id": "XP_047301366.1",
"transcript_support_level": null,
"aa_start": 248,
"aa_end": null,
"aa_length": 422,
"cds_start": 743,
"cds_end": null,
"cds_length": 1269,
"cdna_start": 1727,
"cdna_end": null,
"cdna_length": 2434,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCG5",
"gene_hgnc_id": 13886,
"hgvs_c": "c.743G>C",
"hgvs_p": "p.Arg248Pro",
"transcript": "XM_047445411.1",
"protein_id": "XP_047301367.1",
"transcript_support_level": null,
"aa_start": 248,
"aa_end": null,
"aa_length": 387,
"cds_start": 743,
"cds_end": null,
"cds_length": 1164,
"cdna_start": 1727,
"cdna_end": null,
"cdna_length": 2958,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCG5",
"gene_hgnc_id": 13886,
"hgvs_c": "c.419G>C",
"hgvs_p": "p.Arg140Pro",
"transcript": "XM_011533028.3",
"protein_id": "XP_011531330.1",
"transcript_support_level": null,
"aa_start": 140,
"aa_end": null,
"aa_length": 372,
"cds_start": 419,
"cds_end": null,
"cds_length": 1119,
"cdna_start": 571,
"cdna_end": null,
"cdna_length": 1915,
"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": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCG5",
"gene_hgnc_id": 13886,
"hgvs_c": "n.1539G>C",
"hgvs_p": null,
"transcript": "ENST00000409962.1",
"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": 2512,
"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": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCG5",
"gene_hgnc_id": 13886,
"hgvs_c": "n.1640G>C",
"hgvs_p": null,
"transcript": "ENST00000644754.1",
"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": 2896,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "DYNC2LI1",
"gene_hgnc_id": 24595,
"hgvs_c": "c.*16-3405C>G",
"hgvs_p": null,
"transcript": "NM_001348913.2",
"protein_id": "NP_001335842.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 374,
"cds_start": -4,
"cds_end": null,
"cds_length": 1125,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2202,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "DYNC2LI1",
"gene_hgnc_id": 24595,
"hgvs_c": "c.*16-3405C>G",
"hgvs_p": null,
"transcript": "NM_001348912.2",
"protein_id": "NP_001335841.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 373,
"cds_start": -4,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2199,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "ABCG5",
"gene_hgnc_id": 13886,
"hgvs_c": "c.1189+67G>C",
"hgvs_p": null,
"transcript": "XM_011533024.3",
"protein_id": "XP_011531326.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 606,
"cds_start": -4,
"cds_end": null,
"cds_length": 1821,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2625,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ABCG5",
"gene_hgnc_id": 13886,
"dbsnp": "rs119479067",
"frequency_reference_population": 0.0000065715976,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.0000065716,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9856973886489868,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.702,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9816,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.23,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 4.719,
"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": 11,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PM1,PM2,PM5,PP3_Strong,PP5",
"acmg_by_gene": [
{
"score": 11,
"benign_score": 0,
"pathogenic_score": 11,
"criteria": [
"PM1",
"PM2",
"PM5",
"PP3_Strong",
"PP5"
],
"verdict": "Pathogenic",
"transcript": "ENST00000405322.8",
"gene_symbol": "ABCG5",
"hgnc_id": 13886,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1256G>C",
"hgvs_p": "p.Arg419Pro"
},
{
"score": 7,
"benign_score": 0,
"pathogenic_score": 7,
"criteria": [
"PM2",
"PP3_Strong",
"PP5"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_001348913.2",
"gene_symbol": "DYNC2LI1",
"hgnc_id": 24595,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.*16-3405C>G",
"hgvs_p": null
}
],
"clinvar_disease": "Sitosterolemia 2",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Sitosterolemia 2",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}