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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: 1-170074763-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=170074763&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 170074763,
"ref": "G",
"alt": "C",
"effect": "intron_variant",
"transcript": "ENST00000490550.2",
"consequences": [
{
"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": 20,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "KIFAP3",
"gene_hgnc_id": 17060,
"hgvs_c": "c.77+10272C>G",
"hgvs_p": null,
"transcript": "ENST00000490550.2",
"protein_id": "ENSP00000518914.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 807,
"cds_start": -4,
"cds_end": null,
"cds_length": 2424,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2871,
"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": 20,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "KIFAP3",
"gene_hgnc_id": 17060,
"hgvs_c": "c.77+10272C>G",
"hgvs_p": null,
"transcript": "XM_024454186.2",
"protein_id": "XP_024309954.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 807,
"cds_start": -4,
"cds_end": null,
"cds_length": 2424,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2844,
"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": 20,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "KIFAP3",
"gene_hgnc_id": 17060,
"hgvs_c": "c.77+10272C>G",
"hgvs_p": null,
"transcript": "XM_047449531.1",
"protein_id": "XP_047305487.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 787,
"cds_start": -4,
"cds_end": null,
"cds_length": 2364,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2466,
"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": 12,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "KIFAP3",
"gene_hgnc_id": 17060,
"hgvs_c": "c.77+10272C>G",
"hgvs_p": null,
"transcript": "XM_047449537.1",
"protein_id": "XP_047305493.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 446,
"cds_start": -4,
"cds_end": null,
"cds_length": 1341,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1535,
"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": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIFAP3",
"gene_hgnc_id": 17060,
"hgvs_c": "c.-296C>G",
"hgvs_p": null,
"transcript": "NM_014970.4",
"protein_id": "NP_055785.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 792,
"cds_start": -4,
"cds_end": null,
"cds_length": 2379,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2954,
"mane_select": "ENST00000361580.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIFAP3",
"gene_hgnc_id": 17060,
"hgvs_c": "c.-296C>G",
"hgvs_p": null,
"transcript": "ENST00000361580.7",
"protein_id": "ENSP00000354560.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 792,
"cds_start": -4,
"cds_end": null,
"cds_length": 2379,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2954,
"mane_select": "NM_014970.4",
"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": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIFAP3",
"gene_hgnc_id": 17060,
"hgvs_c": "c.-296C>G",
"hgvs_p": null,
"transcript": "ENST00000367767.5",
"protein_id": "ENSP00000356741.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 748,
"cds_start": -4,
"cds_end": null,
"cds_length": 2247,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2718,
"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": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIFAP3",
"gene_hgnc_id": 17060,
"hgvs_c": "c.-296C>G",
"hgvs_p": null,
"transcript": "NM_001375830.1",
"protein_id": "NP_001362759.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 794,
"cds_start": -4,
"cds_end": null,
"cds_length": 2385,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2991,
"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": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIFAP3",
"gene_hgnc_id": 17060,
"hgvs_c": "c.-296C>G",
"hgvs_p": null,
"transcript": "NM_001375831.1",
"protein_id": "NP_001362760.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 772,
"cds_start": -4,
"cds_end": null,
"cds_length": 2319,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3023,
"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": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIFAP3",
"gene_hgnc_id": 17060,
"hgvs_c": "c.-296C>G",
"hgvs_p": null,
"transcript": "NM_001204516.2",
"protein_id": "NP_001191445.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 748,
"cds_start": -4,
"cds_end": null,
"cds_length": 2247,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2822,
"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": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIFAP3",
"gene_hgnc_id": 17060,
"hgvs_c": "c.-694C>G",
"hgvs_p": null,
"transcript": "NM_001204514.2",
"protein_id": "NP_001191443.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 714,
"cds_start": -4,
"cds_end": null,
"cds_length": 2145,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3118,
"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": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIFAP3",
"gene_hgnc_id": 17060,
"hgvs_c": "c.-694C>G",
"hgvs_p": null,
"transcript": "ENST00000538366.5",
"protein_id": "ENSP00000444622.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 714,
"cds_start": -4,
"cds_end": null,
"cds_length": 2145,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3159,
"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": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIFAP3",
"gene_hgnc_id": 17060,
"hgvs_c": "c.-296C>G",
"hgvs_p": null,
"transcript": "XM_047449532.1",
"protein_id": "XP_047305488.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 772,
"cds_start": -4,
"cds_end": null,
"cds_length": 2319,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2576,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "KIFAP3",
"gene_hgnc_id": 17060,
"dbsnp": "rs522444",
"frequency_reference_population": 0.7240581,
"hom_count_reference_population": 330385,
"allele_count_reference_population": 904964,
"gnomad_exomes_af": 0.718739,
"gnomad_genomes_af": 0.762428,
"gnomad_exomes_ac": 788953,
"gnomad_genomes_ac": 116011,
"gnomad_exomes_homalt": 285705,
"gnomad_genomes_homalt": 44680,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8100000023841858,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"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": -0.81,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.243,
"phylop100way_prediction": "Benign",
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000490550.2",
"gene_symbol": "KIFAP3",
"hgnc_id": 17060,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.77+10272C>G",
"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
}