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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: 22-37978081-A-AAGGAGC (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=37978081&ref=A&alt=AAGGAGC&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 37978081,
"ref": "A",
"alt": "AAGGAGC",
"effect": "disruptive_inframe_insertion",
"transcript": "ENST00000396884.8",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "RLL",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOX10",
"gene_hgnc_id": 11190,
"hgvs_c": "c.482_483insGCTCCT",
"hgvs_p": "p.Arg161_Met162insLeuLeu",
"transcript": "NM_006941.4",
"protein_id": "NP_008872.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 466,
"cds_start": 482,
"cds_end": null,
"cds_length": 1401,
"cdna_start": 783,
"cdna_end": null,
"cdna_length": 2885,
"mane_select": "ENST00000396884.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "RLL",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOX10",
"gene_hgnc_id": 11190,
"hgvs_c": "c.482_483insGCTCCT",
"hgvs_p": "p.Arg161_Met162insLeuLeu",
"transcript": "ENST00000396884.8",
"protein_id": "ENSP00000380093.2",
"transcript_support_level": 1,
"aa_start": 161,
"aa_end": null,
"aa_length": 466,
"cds_start": 482,
"cds_end": null,
"cds_length": 1401,
"cdna_start": 783,
"cdna_end": null,
"cdna_length": 2885,
"mane_select": "NM_006941.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "RLL",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOX10",
"gene_hgnc_id": 11190,
"hgvs_c": "c.482_483insGCTCCT",
"hgvs_p": "p.Arg161_Met162insLeuLeu",
"transcript": "ENST00000360880.6",
"protein_id": "ENSP00000354130.2",
"transcript_support_level": 1,
"aa_start": 161,
"aa_end": null,
"aa_length": 466,
"cds_start": 482,
"cds_end": null,
"cds_length": 1401,
"cdna_start": 747,
"cdna_end": null,
"cdna_length": 2861,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "RLL",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOX10",
"gene_hgnc_id": 11190,
"hgvs_c": "c.698_699insGCTCCT",
"hgvs_p": "p.Arg233_Met234insLeuLeu",
"transcript": "ENST00000698177.1",
"protein_id": "ENSP00000513596.1",
"transcript_support_level": null,
"aa_start": 233,
"aa_end": null,
"aa_length": 538,
"cds_start": 698,
"cds_end": null,
"cds_length": 1617,
"cdna_start": 1354,
"cdna_end": null,
"cdna_length": 3468,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "RLL",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOX10",
"gene_hgnc_id": 11190,
"hgvs_c": "c.482_483insGCTCCT",
"hgvs_p": "p.Arg161_Met162insLeuLeu",
"transcript": "ENST00000427770.1",
"protein_id": "ENSP00000414853.1",
"transcript_support_level": 3,
"aa_start": 161,
"aa_end": null,
"aa_length": 212,
"cds_start": 482,
"cds_end": null,
"cds_length": 641,
"cdna_start": 714,
"cdna_end": null,
"cdna_length": 873,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "RLL",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOX10",
"gene_hgnc_id": 11190,
"hgvs_c": "c.110_111insGCTCCT",
"hgvs_p": "p.Arg37_Met38insLeuLeu",
"transcript": "ENST00000446929.5",
"protein_id": "ENSP00000399777.1",
"transcript_support_level": 2,
"aa_start": 37,
"aa_end": null,
"aa_length": 178,
"cds_start": 110,
"cds_end": null,
"cds_length": 537,
"cdna_start": 112,
"cdna_end": null,
"cdna_length": 1095,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOX10",
"gene_hgnc_id": 11190,
"hgvs_c": "n.124_*1insGCTCCT",
"hgvs_p": null,
"transcript": "ENST00000470555.1",
"protein_id": null,
"transcript_support_level": 5,
"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": 124,
"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": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOX10",
"gene_hgnc_id": 11190,
"hgvs_c": "n.*104_*105insGCTCCT",
"hgvs_p": null,
"transcript": "ENST00000690831.1",
"protein_id": "ENSP00000510381.1",
"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": 3054,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOX10",
"gene_hgnc_id": 11190,
"hgvs_c": "n.*104_*105insGCTCCT",
"hgvs_p": null,
"transcript": "ENST00000690831.1",
"protein_id": "ENSP00000510381.1",
"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": 3054,
"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": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "POLR2F",
"gene_hgnc_id": 9193,
"hgvs_c": "c.294-8073_294-8072insAGGAGC",
"hgvs_p": null,
"transcript": "NM_001301130.2",
"protein_id": "NP_001288059.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 158,
"cds_start": -4,
"cds_end": null,
"cds_length": 477,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1389,
"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": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "POLR2F",
"gene_hgnc_id": 9193,
"hgvs_c": "c.294-8073_294-8072insAGGAGC",
"hgvs_p": null,
"transcript": "ENST00000407936.5",
"protein_id": "ENSP00000385725.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 158,
"cds_start": -4,
"cds_end": null,
"cds_length": 477,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 582,
"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": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "POLR2F",
"gene_hgnc_id": 9193,
"hgvs_c": "c.293+10911_293+10912insAGGAGC",
"hgvs_p": null,
"transcript": "ENST00000405557.5",
"protein_id": "ENSP00000384112.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 126,
"cds_start": -4,
"cds_end": null,
"cds_length": 381,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 560,
"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": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "POLR2F",
"gene_hgnc_id": 9193,
"hgvs_c": "c.*38+5771_*38+5772insAGGAGC",
"hgvs_p": null,
"transcript": "NM_001363825.1",
"protein_id": "NP_001350754.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 111,
"cds_start": -4,
"cds_end": null,
"cds_length": 336,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1347,
"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": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "POLR2F",
"gene_hgnc_id": 9193,
"hgvs_c": "c.293+10911_293+10912insAGGAGC",
"hgvs_p": null,
"transcript": "NM_001301131.2",
"protein_id": "NP_001288060.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 105,
"cds_start": -4,
"cds_end": null,
"cds_length": 318,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1230,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "POLR2F",
"gene_hgnc_id": 9193,
"hgvs_c": "n.*38+5771_*38+5772insAGGAGC",
"hgvs_p": null,
"transcript": "ENST00000443002.5",
"protein_id": "ENSP00000406826.1",
"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": 1890,
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOX10",
"gene_hgnc_id": 11190,
"hgvs_c": "c.-53_-52insGCTCCT",
"hgvs_p": null,
"transcript": "ENST00000651746.1",
"protein_id": "ENSP00000498686.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 72,
"cds_start": -4,
"cds_end": null,
"cds_length": 219,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 484,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SOX10",
"gene_hgnc_id": 11190,
"dbsnp": "rs397515366",
"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": 7.9,
"phylop100way_prediction": "Pathogenic",
"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": 8,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM1,PM2,PM4,PP3,PP5",
"acmg_by_gene": [
{
"score": 8,
"benign_score": 0,
"pathogenic_score": 8,
"criteria": [
"PM1",
"PM2",
"PM4",
"PP3",
"PP5"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000396884.8",
"gene_symbol": "SOX10",
"hgnc_id": 11190,
"effects": [
"disruptive_inframe_insertion"
],
"inheritance_mode": "AD",
"hgvs_c": "c.482_483insGCTCCT",
"hgvs_p": "p.Arg161_Met162insLeuLeu"
},
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3",
"PP5"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001301130.2",
"gene_symbol": "POLR2F",
"hgnc_id": 9193,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.294-8073_294-8072insAGGAGC",
"hgvs_p": null
}
],
"clinvar_disease": "Waardenburg syndrome type 4C",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Waardenburg syndrome type 4C",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}