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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: 5-169702332-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=169702332&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 169702332,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000520908.7",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 52,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK2",
"gene_hgnc_id": 2988,
"hgvs_c": "c.1288C>G",
"hgvs_p": "p.Leu430Val",
"transcript": "NM_004946.3",
"protein_id": "NP_004937.1",
"transcript_support_level": null,
"aa_start": 430,
"aa_end": null,
"aa_length": 1830,
"cds_start": 1288,
"cds_end": null,
"cds_length": 5493,
"cdna_start": 1340,
"cdna_end": null,
"cdna_length": 6069,
"mane_select": "ENST00000520908.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 52,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK2",
"gene_hgnc_id": 2988,
"hgvs_c": "c.1288C>G",
"hgvs_p": "p.Leu430Val",
"transcript": "ENST00000520908.7",
"protein_id": "ENSP00000429283.3",
"transcript_support_level": 2,
"aa_start": 430,
"aa_end": null,
"aa_length": 1830,
"cds_start": 1288,
"cds_end": null,
"cds_length": 5493,
"cdna_start": 1340,
"cdna_end": null,
"cdna_length": 6069,
"mane_select": "NM_004946.3",
"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": 14,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK2",
"gene_hgnc_id": 2988,
"hgvs_c": "n.1288C>G",
"hgvs_p": null,
"transcript": "ENST00000524185.5",
"protein_id": "ENSP00000428850.1",
"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": 5656,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK2",
"gene_hgnc_id": 2988,
"hgvs_c": "c.1288C>G",
"hgvs_p": "p.Leu430Val",
"transcript": "ENST00000519628.2",
"protein_id": "ENSP00000428841.2",
"transcript_support_level": 3,
"aa_start": 430,
"aa_end": null,
"aa_length": 957,
"cds_start": 1288,
"cds_end": null,
"cds_length": 2874,
"cdna_start": 1288,
"cdna_end": null,
"cdna_length": 3019,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK2",
"gene_hgnc_id": 2988,
"hgvs_c": "c.376C>G",
"hgvs_p": "p.Leu126Val",
"transcript": "ENST00000523684.5",
"protein_id": "ENSP00000497194.1",
"transcript_support_level": 4,
"aa_start": 126,
"aa_end": null,
"aa_length": 156,
"cds_start": 376,
"cds_end": null,
"cds_length": 471,
"cdna_start": 483,
"cdna_end": null,
"cdna_length": 578,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK2",
"gene_hgnc_id": 2988,
"hgvs_c": "c.1288C>G",
"hgvs_p": "p.Leu430Val",
"transcript": "XM_011534448.3",
"protein_id": "XP_011532750.1",
"transcript_support_level": null,
"aa_start": 430,
"aa_end": null,
"aa_length": 960,
"cds_start": 1288,
"cds_end": null,
"cds_length": 2883,
"cdna_start": 1340,
"cdna_end": null,
"cdna_length": 6849,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK2",
"gene_hgnc_id": 2988,
"hgvs_c": "c.1288C>G",
"hgvs_p": "p.Leu430Val",
"transcript": "XM_011534449.3",
"protein_id": "XP_011532751.1",
"transcript_support_level": null,
"aa_start": 430,
"aa_end": null,
"aa_length": 957,
"cds_start": 1288,
"cds_end": null,
"cds_length": 2874,
"cdna_start": 1340,
"cdna_end": null,
"cdna_length": 3071,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK2",
"gene_hgnc_id": 2988,
"hgvs_c": "c.1288C>G",
"hgvs_p": "p.Leu430Val",
"transcript": "XM_011534450.3",
"protein_id": "XP_011532752.1",
"transcript_support_level": null,
"aa_start": 430,
"aa_end": null,
"aa_length": 955,
"cds_start": 1288,
"cds_end": null,
"cds_length": 2868,
"cdna_start": 1340,
"cdna_end": null,
"cdna_length": 3518,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK2",
"gene_hgnc_id": 2988,
"hgvs_c": "c.1288C>G",
"hgvs_p": "p.Leu430Val",
"transcript": "XM_017009190.3",
"protein_id": "XP_016864679.1",
"transcript_support_level": null,
"aa_start": 430,
"aa_end": null,
"aa_length": 951,
"cds_start": 1288,
"cds_end": null,
"cds_length": 2856,
"cdna_start": 1340,
"cdna_end": null,
"cdna_length": 5419,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK2",
"gene_hgnc_id": 2988,
"hgvs_c": "c.1288C>G",
"hgvs_p": "p.Leu430Val",
"transcript": "XM_011534451.3",
"protein_id": "XP_011532753.1",
"transcript_support_level": null,
"aa_start": 430,
"aa_end": null,
"aa_length": 946,
"cds_start": 1288,
"cds_end": null,
"cds_length": 2841,
"cdna_start": 1340,
"cdna_end": null,
"cdna_length": 11238,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK2",
"gene_hgnc_id": 2988,
"hgvs_c": "c.1288C>G",
"hgvs_p": "p.Leu430Val",
"transcript": "XM_005265830.5",
"protein_id": "XP_005265887.1",
"transcript_support_level": null,
"aa_start": 430,
"aa_end": null,
"aa_length": 939,
"cds_start": 1288,
"cds_end": null,
"cds_length": 2820,
"cdna_start": 1340,
"cdna_end": null,
"cdna_length": 3036,
"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": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK2",
"gene_hgnc_id": 2988,
"hgvs_c": "n.399C>G",
"hgvs_p": null,
"transcript": "ENST00000519223.1",
"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": 690,
"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": 14,
"exon_rank_end": null,
"exon_count": 52,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK2",
"gene_hgnc_id": 2988,
"hgvs_c": "n.*798C>G",
"hgvs_p": null,
"transcript": "ENST00000522138.2",
"protein_id": "ENSP00000512484.1",
"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": 6072,
"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": 14,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK2",
"gene_hgnc_id": 2988,
"hgvs_c": "n.1340C>G",
"hgvs_p": null,
"transcript": "NR_156756.1",
"protein_id": null,
"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": 6120,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 52,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK2",
"gene_hgnc_id": 2988,
"hgvs_c": "n.*798C>G",
"hgvs_p": null,
"transcript": "ENST00000522138.2",
"protein_id": "ENSP00000512484.1",
"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": 6072,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "DOCK2",
"gene_hgnc_id": 2988,
"dbsnp": "rs370264550",
"frequency_reference_population": 0.000024166115,
"hom_count_reference_population": 0,
"allele_count_reference_population": 39,
"gnomad_exomes_af": 0.0000225769,
"gnomad_genomes_af": 0.0000394322,
"gnomad_exomes_ac": 33,
"gnomad_genomes_ac": 6,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.2358165979385376,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.156,
"revel_prediction": "Benign",
"alphamissense_score": 0.1041,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.37,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.188,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000520908.7",
"gene_symbol": "DOCK2",
"hgnc_id": 2988,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1288C>G",
"hgvs_p": "p.Leu430Val"
}
],
"clinvar_disease": "DOCK2 deficiency,Inborn genetic diseases",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2 O:2",
"phenotype_combined": "DOCK2 deficiency|Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}