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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: 2-182934830-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=182934830&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 182934830,
"ref": "G",
"alt": "C",
"effect": "splice_region_variant,synonymous_variant",
"transcript": "ENST00000361354.9",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCKAP1",
"gene_hgnc_id": 7666,
"hgvs_c": "c.2781C>G",
"hgvs_p": "p.Val927Val",
"transcript": "NM_013436.5",
"protein_id": "NP_038464.1",
"transcript_support_level": null,
"aa_start": 927,
"aa_end": null,
"aa_length": 1128,
"cds_start": 2781,
"cds_end": null,
"cds_length": 3387,
"cdna_start": 3139,
"cdna_end": null,
"cdna_length": 20332,
"mane_select": "ENST00000361354.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCKAP1",
"gene_hgnc_id": 7666,
"hgvs_c": "c.2781C>G",
"hgvs_p": "p.Val927Val",
"transcript": "ENST00000361354.9",
"protein_id": "ENSP00000355348.3",
"transcript_support_level": 1,
"aa_start": 927,
"aa_end": null,
"aa_length": 1128,
"cds_start": 2781,
"cds_end": null,
"cds_length": 3387,
"cdna_start": 3139,
"cdna_end": null,
"cdna_length": 20332,
"mane_select": "NM_013436.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCKAP1",
"gene_hgnc_id": 7666,
"hgvs_c": "c.2799C>G",
"hgvs_p": "p.Val933Val",
"transcript": "ENST00000360982.2",
"protein_id": "ENSP00000354251.2",
"transcript_support_level": 1,
"aa_start": 933,
"aa_end": null,
"aa_length": 1134,
"cds_start": 2799,
"cds_end": null,
"cds_length": 3405,
"cdna_start": 3558,
"cdna_end": null,
"cdna_length": 4989,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCKAP1",
"gene_hgnc_id": 7666,
"hgvs_c": "c.2799C>G",
"hgvs_p": "p.Val933Val",
"transcript": "NM_205842.3",
"protein_id": "NP_995314.1",
"transcript_support_level": null,
"aa_start": 933,
"aa_end": null,
"aa_length": 1134,
"cds_start": 2799,
"cds_end": null,
"cds_length": 3405,
"cdna_start": 3157,
"cdna_end": null,
"cdna_length": 20350,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCKAP1",
"gene_hgnc_id": 7666,
"hgvs_c": "c.2793C>G",
"hgvs_p": "p.Val931Val",
"transcript": "NM_001437267.1",
"protein_id": "NP_001424196.1",
"transcript_support_level": null,
"aa_start": 931,
"aa_end": null,
"aa_length": 1132,
"cds_start": 2793,
"cds_end": null,
"cds_length": 3399,
"cdna_start": 3151,
"cdna_end": null,
"cdna_length": 20344,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCKAP1",
"gene_hgnc_id": 7666,
"hgvs_c": "c.2793C>G",
"hgvs_p": "p.Val931Val",
"transcript": "ENST00000703824.1",
"protein_id": "ENSP00000515489.1",
"transcript_support_level": null,
"aa_start": 931,
"aa_end": null,
"aa_length": 1132,
"cds_start": 2793,
"cds_end": null,
"cds_length": 3399,
"cdna_start": 2793,
"cdna_end": null,
"cdna_length": 5793,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCKAP1",
"gene_hgnc_id": 7666,
"hgvs_c": "c.2775C>G",
"hgvs_p": "p.Val925Val",
"transcript": "NM_001437266.1",
"protein_id": "NP_001424195.1",
"transcript_support_level": null,
"aa_start": 925,
"aa_end": null,
"aa_length": 1126,
"cds_start": 2775,
"cds_end": null,
"cds_length": 3381,
"cdna_start": 3133,
"cdna_end": null,
"cdna_length": 20326,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCKAP1",
"gene_hgnc_id": 7666,
"hgvs_c": "c.2775C>G",
"hgvs_p": "p.Val925Val",
"transcript": "ENST00000703825.1",
"protein_id": "ENSP00000515490.1",
"transcript_support_level": null,
"aa_start": 925,
"aa_end": null,
"aa_length": 1126,
"cds_start": 2775,
"cds_end": null,
"cds_length": 3381,
"cdna_start": 3028,
"cdna_end": null,
"cdna_length": 6028,
"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": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCKAP1",
"gene_hgnc_id": 7666,
"hgvs_c": "n.164C>G",
"hgvs_p": null,
"transcript": "ENST00000471640.1",
"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": 306,
"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": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCKAP1",
"gene_hgnc_id": 7666,
"hgvs_c": "n.316C>G",
"hgvs_p": null,
"transcript": "ENST00000478449.5",
"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": 713,
"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": "NCKAP1",
"gene_hgnc_id": 7666,
"hgvs_c": "n.214C>G",
"hgvs_p": null,
"transcript": "ENST00000492058.1",
"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": 642,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "NCKAP1",
"gene_hgnc_id": 7666,
"dbsnp": "rs9288088",
"frequency_reference_population": 0.7683992,
"hom_count_reference_population": 430417,
"allele_count_reference_population": 1094935,
"gnomad_exomes_af": 0.779846,
"gnomad_genomes_af": 0.672577,
"gnomad_exomes_ac": 992663,
"gnomad_genomes_ac": 102272,
"gnomad_exomes_homalt": 392737,
"gnomad_genomes_homalt": 37680,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.4699999988079071,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.47,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.341,
"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": -21,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BA1",
"acmg_by_gene": [
{
"score": -21,
"benign_score": 21,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000361354.9",
"gene_symbol": "NCKAP1",
"hgnc_id": 7666,
"effects": [
"splice_region_variant",
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2781C>G",
"hgvs_p": "p.Val927Val"
}
],
"clinvar_disease": "NCKAP1-related disorder,not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"phenotype_combined": "not provided|NCKAP1-related disorder",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}