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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: 5-169917676-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=169917676&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 169917676,
"ref": "T",
"alt": "C",
"effect": "intron_variant",
"transcript": "ENST00000520908.7",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 52,
"intron_rank": 27,
"intron_rank_end": null,
"gene_symbol": "DOCK2",
"gene_hgnc_id": 2988,
"hgvs_c": "c.2800-65392T>C",
"hgvs_p": null,
"transcript": "NM_004946.3",
"protein_id": "NP_004937.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1830,
"cds_start": -4,
"cds_end": null,
"cds_length": 5493,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6069,
"mane_select": "ENST00000520908.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 52,
"intron_rank": 27,
"intron_rank_end": null,
"gene_symbol": "DOCK2",
"gene_hgnc_id": 2988,
"hgvs_c": "c.2800-65392T>C",
"hgvs_p": null,
"transcript": "ENST00000520908.7",
"protein_id": "ENSP00000429283.3",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 1830,
"cds_start": -4,
"cds_end": null,
"cds_length": 5493,
"cdna_start": null,
"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": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "INSYN2B",
"gene_hgnc_id": 37271,
"hgvs_c": "c.-918-32860A>G",
"hgvs_p": null,
"transcript": "NM_001129891.3",
"protein_id": "NP_001123363.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 535,
"cds_start": -4,
"cds_end": null,
"cds_length": 1608,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5715,
"mane_select": "ENST00000377365.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "INSYN2B",
"gene_hgnc_id": 37271,
"hgvs_c": "c.-918-32860A>G",
"hgvs_p": null,
"transcript": "ENST00000377365.4",
"protein_id": "ENSP00000366582.3",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 535,
"cds_start": -4,
"cds_end": null,
"cds_length": 1608,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5715,
"mane_select": "NM_001129891.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": 27,
"intron_rank_end": null,
"gene_symbol": "DOCK2",
"gene_hgnc_id": 2988,
"hgvs_c": "n.2800-65392T>C",
"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": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 27,
"intron_rank_end": null,
"gene_symbol": "DOCK2",
"gene_hgnc_id": 2988,
"hgvs_c": "c.2800-16976T>C",
"hgvs_p": null,
"transcript": "ENST00000519628.2",
"protein_id": "ENSP00000428841.2",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 957,
"cds_start": -4,
"cds_end": null,
"cds_length": 2874,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3019,
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "INSYN2B",
"gene_hgnc_id": 37271,
"hgvs_c": "c.-918-32860A>G",
"hgvs_p": null,
"transcript": "NM_001346304.2",
"protein_id": "NP_001333233.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 535,
"cds_start": -4,
"cds_end": null,
"cds_length": 1608,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5696,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 52,
"intron_rank": 27,
"intron_rank_end": null,
"gene_symbol": "DOCK2",
"gene_hgnc_id": 2988,
"hgvs_c": "n.*2310-65392T>C",
"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": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "DOCK2",
"gene_hgnc_id": 2988,
"hgvs_c": "n.1440-65392T>C",
"hgvs_p": null,
"transcript": "ENST00000523351.6",
"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": 4654,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "INSYN2B",
"gene_hgnc_id": 37271,
"hgvs_c": "n.154-32860A>G",
"hgvs_p": null,
"transcript": "ENST00000523970.1",
"protein_id": null,
"transcript_support_level": 4,
"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": 595,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": 27,
"intron_rank_end": null,
"gene_symbol": "DOCK2",
"gene_hgnc_id": 2988,
"hgvs_c": "n.2852-65392T>C",
"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": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 27,
"intron_rank_end": null,
"gene_symbol": "DOCK2",
"gene_hgnc_id": 2988,
"hgvs_c": "c.2800-16976T>C",
"hgvs_p": null,
"transcript": "XM_011534449.3",
"protein_id": "XP_011532751.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 957,
"cds_start": -4,
"cds_end": null,
"cds_length": 2874,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3071,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 27,
"intron_rank_end": null,
"gene_symbol": "DOCK2",
"gene_hgnc_id": 2988,
"hgvs_c": "c.2800-14373T>C",
"hgvs_p": null,
"transcript": "XM_017009190.3",
"protein_id": "XP_016864679.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 951,
"cds_start": -4,
"cds_end": null,
"cds_length": 2856,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5419,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 27,
"intron_rank_end": null,
"gene_symbol": "DOCK2",
"gene_hgnc_id": 2988,
"hgvs_c": "c.2800-3695T>C",
"hgvs_p": null,
"transcript": "XM_011534451.3",
"protein_id": "XP_011532753.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 946,
"cds_start": -4,
"cds_end": null,
"cds_length": 2841,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 11238,
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "INSYN2B",
"gene_hgnc_id": 37271,
"hgvs_c": "c.-918-32860A>G",
"hgvs_p": null,
"transcript": "XM_017008908.2",
"protein_id": "XP_016864397.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 510,
"cds_start": -4,
"cds_end": null,
"cds_length": 1533,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5822,
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "INSYN2B",
"gene_hgnc_id": 37271,
"hgvs_c": "c.-918-32860A>G",
"hgvs_p": null,
"transcript": "XM_047416585.1",
"protein_id": "XP_047272541.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 510,
"cds_start": -4,
"cds_end": null,
"cds_length": 1533,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5803,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "DOCK2",
"gene_hgnc_id": 2988,
"dbsnp": "rs33368",
"frequency_reference_population": 0.35262942,
"hom_count_reference_population": 9929,
"allele_count_reference_population": 53563,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.352629,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 53563,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 9929,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8299999833106995,
"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": -0.83,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.685,
"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": -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": "ENST00000520908.7",
"gene_symbol": "DOCK2",
"hgnc_id": 2988,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2800-65392T>C",
"hgvs_p": null
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000377365.4",
"gene_symbol": "INSYN2B",
"hgnc_id": 37271,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.-918-32860A>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
}