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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: 17-4817174-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=4817174&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 4817174,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000263088.11",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLD2",
"gene_hgnc_id": 9068,
"hgvs_c": "c.1730C>T",
"hgvs_p": "p.Thr577Ile",
"transcript": "NM_002663.5",
"protein_id": "NP_002654.3",
"transcript_support_level": null,
"aa_start": 577,
"aa_end": null,
"aa_length": 933,
"cds_start": 1730,
"cds_end": null,
"cds_length": 2802,
"cdna_start": 1805,
"cdna_end": null,
"cdna_length": 3443,
"mane_select": "ENST00000263088.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLD2",
"gene_hgnc_id": 9068,
"hgvs_c": "c.1730C>T",
"hgvs_p": "p.Thr577Ile",
"transcript": "ENST00000263088.11",
"protein_id": "ENSP00000263088.5",
"transcript_support_level": 1,
"aa_start": 577,
"aa_end": null,
"aa_length": 933,
"cds_start": 1730,
"cds_end": null,
"cds_length": 2802,
"cdna_start": 1805,
"cdna_end": null,
"cdna_length": 3443,
"mane_select": "NM_002663.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLD2",
"gene_hgnc_id": 9068,
"hgvs_c": "c.1730C>T",
"hgvs_p": "p.Thr577Ile",
"transcript": "ENST00000572940.5",
"protein_id": "ENSP00000459571.1",
"transcript_support_level": 1,
"aa_start": 577,
"aa_end": null,
"aa_length": 922,
"cds_start": 1730,
"cds_end": null,
"cds_length": 2769,
"cdna_start": 1788,
"cdna_end": null,
"cdna_length": 3391,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLD2",
"gene_hgnc_id": 9068,
"hgvs_c": "c.1730C>T",
"hgvs_p": "p.Thr577Ile",
"transcript": "NM_001243108.2",
"protein_id": "NP_001230037.1",
"transcript_support_level": null,
"aa_start": 577,
"aa_end": null,
"aa_length": 922,
"cds_start": 1730,
"cds_end": null,
"cds_length": 2769,
"cdna_start": 1805,
"cdna_end": null,
"cdna_length": 3410,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLD2",
"gene_hgnc_id": 9068,
"hgvs_c": "c.29C>T",
"hgvs_p": "p.Thr10Ile",
"transcript": "ENST00000576983.5",
"protein_id": "ENSP00000460250.2",
"transcript_support_level": 3,
"aa_start": 10,
"aa_end": null,
"aa_length": 195,
"cds_start": 29,
"cds_end": null,
"cds_length": 589,
"cdna_start": 29,
"cdna_end": null,
"cdna_length": 589,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLD2",
"gene_hgnc_id": 9068,
"hgvs_c": "c.1370C>T",
"hgvs_p": "p.Thr457Ile",
"transcript": "XM_047436300.1",
"protein_id": "XP_047292256.1",
"transcript_support_level": null,
"aa_start": 457,
"aa_end": null,
"aa_length": 813,
"cds_start": 1370,
"cds_end": null,
"cds_length": 2442,
"cdna_start": 1560,
"cdna_end": null,
"cdna_length": 3198,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLD2",
"gene_hgnc_id": 9068,
"hgvs_c": "c.1681C>T",
"hgvs_p": "p.His561Tyr",
"transcript": "XM_047436301.1",
"protein_id": "XP_047292257.1",
"transcript_support_level": null,
"aa_start": 561,
"aa_end": null,
"aa_length": 637,
"cds_start": 1681,
"cds_end": null,
"cds_length": 1914,
"cdna_start": 1756,
"cdna_end": null,
"cdna_length": 2127,
"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": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLD2",
"gene_hgnc_id": 9068,
"hgvs_c": "n.377C>T",
"hgvs_p": null,
"transcript": "ENST00000572199.1",
"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": 578,
"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": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLD2",
"gene_hgnc_id": 9068,
"hgvs_c": "n.*1378C>T",
"hgvs_p": null,
"transcript": "ENST00000575246.6",
"protein_id": "ENSP00000459304.1",
"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": 2278,
"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": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLD2",
"gene_hgnc_id": 9068,
"hgvs_c": "n.*1378C>T",
"hgvs_p": null,
"transcript": "ENST00000575246.6",
"protein_id": "ENSP00000459304.1",
"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": 2278,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLD2",
"gene_hgnc_id": 9068,
"hgvs_c": "n.*37C>T",
"hgvs_p": null,
"transcript": "ENST00000573258.1",
"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": 360,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "PLD2",
"gene_hgnc_id": 9068,
"dbsnp": "rs1052748",
"frequency_reference_population": 0.44030076,
"hom_count_reference_population": 165709,
"allele_count_reference_population": 709358,
"gnomad_exomes_af": 0.449062,
"gnomad_genomes_af": 0.3562,
"gnomad_exomes_ac": 655217,
"gnomad_genomes_ac": 54141,
"gnomad_exomes_homalt": 154417,
"gnomad_genomes_homalt": 11292,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0006729662418365479,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.017,
"revel_prediction": "Benign",
"alphamissense_score": 0.0728,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.62,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.476,
"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": -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": "ENST00000263088.11",
"gene_symbol": "PLD2",
"hgnc_id": 9068,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1730C>T",
"hgvs_p": "p.Thr577Ile"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}