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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: 12-123690636-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=123690636&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 123690636,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000303372.7",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCTN2",
"gene_hgnc_id": 25774,
"hgvs_c": "c.995G>T",
"hgvs_p": "p.Gly332Val",
"transcript": "NM_024809.5",
"protein_id": "NP_079085.2",
"transcript_support_level": null,
"aa_start": 332,
"aa_end": null,
"aa_length": 697,
"cds_start": 995,
"cds_end": null,
"cds_length": 2094,
"cdna_start": 1123,
"cdna_end": null,
"cdna_length": 2908,
"mane_select": "ENST00000303372.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCTN2",
"gene_hgnc_id": 25774,
"hgvs_c": "c.995G>T",
"hgvs_p": "p.Gly332Val",
"transcript": "ENST00000303372.7",
"protein_id": "ENSP00000304941.5",
"transcript_support_level": 1,
"aa_start": 332,
"aa_end": null,
"aa_length": 697,
"cds_start": 995,
"cds_end": null,
"cds_length": 2094,
"cdna_start": 1123,
"cdna_end": null,
"cdna_length": 2908,
"mane_select": "NM_024809.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCTN2",
"gene_hgnc_id": 25774,
"hgvs_c": "c.992G>T",
"hgvs_p": "p.Gly331Val",
"transcript": "NM_001143850.3",
"protein_id": "NP_001137322.1",
"transcript_support_level": null,
"aa_start": 331,
"aa_end": null,
"aa_length": 696,
"cds_start": 992,
"cds_end": null,
"cds_length": 2091,
"cdna_start": 1120,
"cdna_end": null,
"cdna_length": 2905,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCTN2",
"gene_hgnc_id": 25774,
"hgvs_c": "c.992G>T",
"hgvs_p": "p.Gly331Val",
"transcript": "ENST00000426174.6",
"protein_id": "ENSP00000395171.2",
"transcript_support_level": 2,
"aa_start": 331,
"aa_end": null,
"aa_length": 696,
"cds_start": 992,
"cds_end": null,
"cds_length": 2091,
"cdna_start": 1120,
"cdna_end": null,
"cdna_length": 2513,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCTN2",
"gene_hgnc_id": 25774,
"hgvs_c": "c.992G>T",
"hgvs_p": "p.Gly331Val",
"transcript": "ENST00000679504.1",
"protein_id": "ENSP00000505006.1",
"transcript_support_level": null,
"aa_start": 331,
"aa_end": null,
"aa_length": 669,
"cds_start": 992,
"cds_end": null,
"cds_length": 2010,
"cdna_start": 1120,
"cdna_end": null,
"cdna_length": 2246,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCTN2",
"gene_hgnc_id": 25774,
"hgvs_c": "c.995G>T",
"hgvs_p": "p.Gly332Val",
"transcript": "NM_001410989.1",
"protein_id": "NP_001397918.1",
"transcript_support_level": null,
"aa_start": 332,
"aa_end": null,
"aa_length": 652,
"cds_start": 995,
"cds_end": null,
"cds_length": 1959,
"cdna_start": 1123,
"cdna_end": null,
"cdna_length": 2773,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCTN2",
"gene_hgnc_id": 25774,
"hgvs_c": "c.995G>T",
"hgvs_p": "p.Gly332Val",
"transcript": "ENST00000680574.1",
"protein_id": "ENSP00000505356.1",
"transcript_support_level": null,
"aa_start": 332,
"aa_end": null,
"aa_length": 652,
"cds_start": 995,
"cds_end": null,
"cds_length": 1959,
"cdna_start": 1126,
"cdna_end": null,
"cdna_length": 2374,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCTN2",
"gene_hgnc_id": 25774,
"hgvs_c": "c.992G>T",
"hgvs_p": "p.Gly331Val",
"transcript": "XM_017019974.2",
"protein_id": "XP_016875463.1",
"transcript_support_level": null,
"aa_start": 331,
"aa_end": null,
"aa_length": 651,
"cds_start": 992,
"cds_end": null,
"cds_length": 1956,
"cdna_start": 1120,
"cdna_end": null,
"cdna_length": 2770,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCTN2",
"gene_hgnc_id": 25774,
"hgvs_c": "c.83G>T",
"hgvs_p": "p.Gly28Val",
"transcript": "XM_047429553.1",
"protein_id": "XP_047285509.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 393,
"cds_start": 83,
"cds_end": null,
"cds_length": 1182,
"cdna_start": 195,
"cdna_end": null,
"cdna_length": 1980,
"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": 8,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCTN2",
"gene_hgnc_id": 25774,
"hgvs_c": "n.995G>T",
"hgvs_p": null,
"transcript": "ENST00000680500.1",
"protein_id": "ENSP00000506438.1",
"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": 2497,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "TCTN2",
"gene_hgnc_id": 25774,
"dbsnp": "rs886038687",
"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": 0.12904056906700134,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.237,
"revel_prediction": "Benign",
"alphamissense_score": 0.0996,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.34,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.513,
"phylop100way_prediction": "Benign",
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Moderate,BP6_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000303372.7",
"gene_symbol": "TCTN2",
"hgnc_id": 25774,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.995G>T",
"hgvs_p": "p.Gly332Val"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}