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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: 6-30923211-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=30923211&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 30923211,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000676266.1",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VARS2",
"gene_hgnc_id": 21642,
"hgvs_c": "c.2293G>C",
"hgvs_p": "p.Val765Leu",
"transcript": "NM_020442.6",
"protein_id": "NP_065175.4",
"transcript_support_level": null,
"aa_start": 765,
"aa_end": null,
"aa_length": 1063,
"cds_start": 2293,
"cds_end": null,
"cds_length": 3192,
"cdna_start": 2427,
"cdna_end": null,
"cdna_length": 3575,
"mane_select": "ENST00000676266.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VARS2",
"gene_hgnc_id": 21642,
"hgvs_c": "c.2293G>C",
"hgvs_p": "p.Val765Leu",
"transcript": "ENST00000676266.1",
"protein_id": "ENSP00000502585.1",
"transcript_support_level": null,
"aa_start": 765,
"aa_end": null,
"aa_length": 1063,
"cds_start": 2293,
"cds_end": null,
"cds_length": 3192,
"cdna_start": 2427,
"cdna_end": null,
"cdna_length": 3575,
"mane_select": "NM_020442.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VARS2",
"gene_hgnc_id": 21642,
"hgvs_c": "c.2293G>C",
"hgvs_p": "p.Val765Leu",
"transcript": "ENST00000321897.9",
"protein_id": "ENSP00000316092.5",
"transcript_support_level": 1,
"aa_start": 765,
"aa_end": null,
"aa_length": 1063,
"cds_start": 2293,
"cds_end": null,
"cds_length": 3192,
"cdna_start": 2925,
"cdna_end": null,
"cdna_length": 4073,
"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": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VARS2",
"gene_hgnc_id": 21642,
"hgvs_c": "n.1080G>C",
"hgvs_p": null,
"transcript": "ENST00000476162.5",
"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": 2228,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VARS2",
"gene_hgnc_id": 21642,
"hgvs_c": "c.2383G>C",
"hgvs_p": "p.Val795Leu",
"transcript": "NM_001167734.2",
"protein_id": "NP_001161206.1",
"transcript_support_level": null,
"aa_start": 795,
"aa_end": null,
"aa_length": 1093,
"cds_start": 2383,
"cds_end": null,
"cds_length": 3282,
"cdna_start": 2557,
"cdna_end": null,
"cdna_length": 3705,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VARS2",
"gene_hgnc_id": 21642,
"hgvs_c": "c.2293G>C",
"hgvs_p": "p.Val765Leu",
"transcript": "ENST00000541562.6",
"protein_id": "ENSP00000441000.2",
"transcript_support_level": 2,
"aa_start": 765,
"aa_end": null,
"aa_length": 1063,
"cds_start": 2293,
"cds_end": null,
"cds_length": 3192,
"cdna_start": 2464,
"cdna_end": null,
"cdna_length": 3566,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VARS2",
"gene_hgnc_id": 21642,
"hgvs_c": "c.2287G>C",
"hgvs_p": "p.Val763Leu",
"transcript": "ENST00000672801.1",
"protein_id": "ENSP00000500615.1",
"transcript_support_level": null,
"aa_start": 763,
"aa_end": null,
"aa_length": 1061,
"cds_start": 2287,
"cds_end": null,
"cds_length": 3186,
"cdna_start": 2919,
"cdna_end": null,
"cdna_length": 4064,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VARS2",
"gene_hgnc_id": 21642,
"hgvs_c": "c.1873G>C",
"hgvs_p": "p.Val625Leu",
"transcript": "NM_001167733.3",
"protein_id": "NP_001161205.1",
"transcript_support_level": null,
"aa_start": 625,
"aa_end": null,
"aa_length": 923,
"cds_start": 1873,
"cds_end": null,
"cds_length": 2772,
"cdna_start": 2199,
"cdna_end": null,
"cdna_length": 3347,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VARS2",
"gene_hgnc_id": 21642,
"hgvs_c": "c.1873G>C",
"hgvs_p": "p.Val625Leu",
"transcript": "ENST00000625423.2",
"protein_id": "ENSP00000485818.1",
"transcript_support_level": 2,
"aa_start": 625,
"aa_end": null,
"aa_length": 923,
"cds_start": 1873,
"cds_end": null,
"cds_length": 2772,
"cdna_start": 2217,
"cdna_end": null,
"cdna_length": 3362,
"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": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VARS2",
"gene_hgnc_id": 21642,
"hgvs_c": "n.2281G>C",
"hgvs_p": null,
"transcript": "ENST00000469358.5",
"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": 3429,
"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": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VARS2",
"gene_hgnc_id": 21642,
"hgvs_c": "n.4G>C",
"hgvs_p": null,
"transcript": "ENST00000473916.1",
"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": 2000,
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VARS2",
"gene_hgnc_id": 21642,
"hgvs_c": "n.379G>C",
"hgvs_p": null,
"transcript": "ENST00000477052.1",
"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": 552,
"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": 35,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000288473",
"gene_hgnc_id": null,
"hgvs_c": "n.4906G>C",
"hgvs_p": null,
"transcript": "ENST00000477288.5",
"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": 6054,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "VARS2",
"gene_hgnc_id": 21642,
"dbsnp": "rs55865499",
"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": 0.039625704288482666,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.025,
"revel_prediction": "Benign",
"alphamissense_score": 0.0814,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.7,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.249,
"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_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000676266.1",
"gene_symbol": "VARS2",
"hgnc_id": 21642,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2293G>C",
"hgvs_p": "p.Val765Leu"
},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000477288.5",
"gene_symbol": "ENSG00000288473",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.4906G>C",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}