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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: 22-37978043-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=37978043&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 37978043,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000396884.8",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"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.521A>C",
"hgvs_p": "p.Gln174Pro",
"transcript": "NM_006941.4",
"protein_id": "NP_008872.1",
"transcript_support_level": null,
"aa_start": 174,
"aa_end": null,
"aa_length": 466,
"cds_start": 521,
"cds_end": null,
"cds_length": 1401,
"cdna_start": 822,
"cdna_end": null,
"cdna_length": 2885,
"mane_select": "ENST00000396884.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"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.521A>C",
"hgvs_p": "p.Gln174Pro",
"transcript": "ENST00000396884.8",
"protein_id": "ENSP00000380093.2",
"transcript_support_level": 1,
"aa_start": 174,
"aa_end": null,
"aa_length": 466,
"cds_start": 521,
"cds_end": null,
"cds_length": 1401,
"cdna_start": 822,
"cdna_end": null,
"cdna_length": 2885,
"mane_select": "NM_006941.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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": "c.521A>C",
"hgvs_p": "p.Gln174Pro",
"transcript": "ENST00000360880.6",
"protein_id": "ENSP00000354130.2",
"transcript_support_level": 1,
"aa_start": 174,
"aa_end": null,
"aa_length": 466,
"cds_start": 521,
"cds_end": null,
"cds_length": 1401,
"cdna_start": 786,
"cdna_end": null,
"cdna_length": 2861,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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": "c.737A>C",
"hgvs_p": "p.Gln246Pro",
"transcript": "ENST00000698177.1",
"protein_id": "ENSP00000513596.1",
"transcript_support_level": null,
"aa_start": 246,
"aa_end": null,
"aa_length": 538,
"cds_start": 737,
"cds_end": null,
"cds_length": 1617,
"cdna_start": 1393,
"cdna_end": null,
"cdna_length": 3468,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"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.521A>C",
"hgvs_p": "p.Gln174Pro",
"transcript": "ENST00000427770.1",
"protein_id": "ENSP00000414853.1",
"transcript_support_level": 3,
"aa_start": 174,
"aa_end": null,
"aa_length": 212,
"cds_start": 521,
"cds_end": null,
"cds_length": 641,
"cdna_start": 753,
"cdna_end": null,
"cdna_length": 873,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"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.149A>C",
"hgvs_p": "p.Gln50Pro",
"transcript": "ENST00000446929.5",
"protein_id": "ENSP00000399777.1",
"transcript_support_level": 2,
"aa_start": 50,
"aa_end": null,
"aa_length": 178,
"cds_start": 149,
"cds_end": null,
"cds_length": 537,
"cdna_start": 151,
"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": [
"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.*143A>C",
"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.*143A>C",
"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.294-8111T>G",
"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.294-8111T>G",
"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+10873T>G",
"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+5733T>G",
"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+10873T>G",
"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+5733T>G",
"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.-14A>C",
"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
},
{
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOX10",
"gene_hgnc_id": 11190,
"hgvs_c": "n.*39A>C",
"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
}
],
"gene_symbol": "SOX10",
"gene_hgnc_id": 11190,
"dbsnp": "rs267607081",
"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": 0.886807918548584,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.939,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9984,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.5,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 8.012,
"phylop100way_prediction": "Pathogenic",
"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": 7,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM1,PM2,PP3_Moderate,PP5",
"acmg_by_gene": [
{
"score": 7,
"benign_score": 0,
"pathogenic_score": 7,
"criteria": [
"PM1",
"PM2",
"PP3_Moderate",
"PP5"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000396884.8",
"gene_symbol": "SOX10",
"hgnc_id": 11190,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.521A>C",
"hgvs_p": "p.Gln174Pro"
},
{
"score": 5,
"benign_score": 0,
"pathogenic_score": 5,
"criteria": [
"PM2",
"PP3_Moderate",
"PP5"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001301130.2",
"gene_symbol": "POLR2F",
"hgnc_id": 9193,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.294-8111T>G",
"hgvs_p": null
}
],
"clinvar_disease": " with neurologic involvement,Waardenburg syndrome type 2E",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Waardenburg syndrome type 2E, with neurologic involvement",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}