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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: 17-81572047-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=81572047&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 81572047,
"ref": "C",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "NM_017921.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPLOC4",
"gene_hgnc_id": 18261,
"hgvs_c": "c.1323G>T",
"hgvs_p": "p.Arg441Arg",
"transcript": "NM_017921.4",
"protein_id": "NP_060391.2",
"transcript_support_level": null,
"aa_start": 441,
"aa_end": null,
"aa_length": 608,
"cds_start": 1323,
"cds_end": null,
"cds_length": 1827,
"cdna_start": 1505,
"cdna_end": null,
"cdna_length": 4381,
"mane_select": "ENST00000331134.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPLOC4",
"gene_hgnc_id": 18261,
"hgvs_c": "c.1323G>T",
"hgvs_p": "p.Arg441Arg",
"transcript": "ENST00000331134.11",
"protein_id": "ENSP00000331487.5",
"transcript_support_level": 1,
"aa_start": 441,
"aa_end": null,
"aa_length": 608,
"cds_start": 1323,
"cds_end": null,
"cds_length": 1827,
"cdna_start": 1505,
"cdna_end": null,
"cdna_length": 4381,
"mane_select": "NM_017921.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPLOC4",
"gene_hgnc_id": 18261,
"hgvs_c": "c.1162G>T",
"hgvs_p": "p.Ala388Ser",
"transcript": "XM_047436367.1",
"protein_id": "XP_047292323.1",
"transcript_support_level": null,
"aa_start": 388,
"aa_end": null,
"aa_length": 419,
"cds_start": 1162,
"cds_end": null,
"cds_length": 1260,
"cdna_start": 1344,
"cdna_end": null,
"cdna_length": 1578,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPLOC4",
"gene_hgnc_id": 18261,
"hgvs_c": "c.1452G>T",
"hgvs_p": "p.Arg484Arg",
"transcript": "ENST00000705719.1",
"protein_id": "ENSP00000516165.1",
"transcript_support_level": null,
"aa_start": 484,
"aa_end": null,
"aa_length": 651,
"cds_start": 1452,
"cds_end": null,
"cds_length": 1956,
"cdna_start": 1505,
"cdna_end": null,
"cdna_length": 4381,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPLOC4",
"gene_hgnc_id": 18261,
"hgvs_c": "c.1323G>T",
"hgvs_p": "p.Arg441Arg",
"transcript": "NM_001437986.1",
"protein_id": "NP_001424915.1",
"transcript_support_level": null,
"aa_start": 441,
"aa_end": null,
"aa_length": 617,
"cds_start": 1323,
"cds_end": null,
"cds_length": 1854,
"cdna_start": 1505,
"cdna_end": null,
"cdna_length": 6473,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPLOC4",
"gene_hgnc_id": 18261,
"hgvs_c": "c.1323G>T",
"hgvs_p": "p.Arg441Arg",
"transcript": "ENST00000374747.9",
"protein_id": "ENSP00000363879.5",
"transcript_support_level": 2,
"aa_start": 441,
"aa_end": null,
"aa_length": 617,
"cds_start": 1323,
"cds_end": null,
"cds_length": 1854,
"cdna_start": 1453,
"cdna_end": null,
"cdna_length": 5538,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPLOC4",
"gene_hgnc_id": 18261,
"hgvs_c": "c.1338G>T",
"hgvs_p": "p.Arg446Arg",
"transcript": "NM_001369698.1",
"protein_id": "NP_001356627.1",
"transcript_support_level": null,
"aa_start": 446,
"aa_end": null,
"aa_length": 613,
"cds_start": 1338,
"cds_end": null,
"cds_length": 1842,
"cdna_start": 1520,
"cdna_end": null,
"cdna_length": 4396,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPLOC4",
"gene_hgnc_id": 18261,
"hgvs_c": "c.1323G>T",
"hgvs_p": "p.Arg441Arg",
"transcript": "NM_001438810.1",
"protein_id": "NP_001425739.1",
"transcript_support_level": null,
"aa_start": 441,
"aa_end": null,
"aa_length": 611,
"cds_start": 1323,
"cds_end": null,
"cds_length": 1836,
"cdna_start": 1505,
"cdna_end": null,
"cdna_length": 4440,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPLOC4",
"gene_hgnc_id": 18261,
"hgvs_c": "c.27G>T",
"hgvs_p": "p.Arg9Arg",
"transcript": "ENST00000571714.5",
"protein_id": "ENSP00000460465.1",
"transcript_support_level": 5,
"aa_start": 9,
"aa_end": null,
"aa_length": 182,
"cds_start": 27,
"cds_end": null,
"cds_length": 549,
"cdna_start": 27,
"cdna_end": null,
"cdna_length": 676,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPLOC4",
"gene_hgnc_id": 18261,
"hgvs_c": "c.1338G>T",
"hgvs_p": "p.Arg446Arg",
"transcript": "XM_011524980.2",
"protein_id": "XP_011523282.1",
"transcript_support_level": null,
"aa_start": 446,
"aa_end": null,
"aa_length": 616,
"cds_start": 1338,
"cds_end": null,
"cds_length": 1851,
"cdna_start": 1520,
"cdna_end": null,
"cdna_length": 4457,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPLOC4",
"gene_hgnc_id": 18261,
"hgvs_c": "c.1338G>T",
"hgvs_p": "p.Arg446Arg",
"transcript": "XM_011524982.3",
"protein_id": "XP_011523284.1",
"transcript_support_level": null,
"aa_start": 446,
"aa_end": null,
"aa_length": 576,
"cds_start": 1338,
"cds_end": null,
"cds_length": 1731,
"cdna_start": 1520,
"cdna_end": null,
"cdna_length": 2058,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPLOC4",
"gene_hgnc_id": 18261,
"hgvs_c": "c.1323G>T",
"hgvs_p": "p.Arg441Arg",
"transcript": "XM_047436366.1",
"protein_id": "XP_047292322.1",
"transcript_support_level": null,
"aa_start": 441,
"aa_end": null,
"aa_length": 571,
"cds_start": 1323,
"cds_end": null,
"cds_length": 1716,
"cdna_start": 1505,
"cdna_end": null,
"cdna_length": 2042,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPLOC4",
"gene_hgnc_id": 18261,
"hgvs_c": "c.660G>T",
"hgvs_p": "p.Arg220Arg",
"transcript": "XM_047436368.1",
"protein_id": "XP_047292324.1",
"transcript_support_level": null,
"aa_start": 220,
"aa_end": null,
"aa_length": 390,
"cds_start": 660,
"cds_end": null,
"cds_length": 1173,
"cdna_start": 827,
"cdna_end": null,
"cdna_length": 3764,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPLOC4",
"gene_hgnc_id": 18261,
"hgvs_c": "n.*866G>T",
"hgvs_p": null,
"transcript": "ENST00000574897.5",
"protein_id": "ENSP00000461543.1",
"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": 2365,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPLOC4",
"gene_hgnc_id": 18261,
"hgvs_c": "n.62G>T",
"hgvs_p": null,
"transcript": "ENST00000576713.6",
"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": 571,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPLOC4",
"gene_hgnc_id": 18261,
"hgvs_c": "n.118G>T",
"hgvs_p": null,
"transcript": "NR_130139.1",
"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": 2996,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPLOC4",
"gene_hgnc_id": 18261,
"hgvs_c": "n.*866G>T",
"hgvs_p": null,
"transcript": "ENST00000574897.5",
"protein_id": "ENSP00000461543.1",
"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": 2365,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "NPLOC4",
"gene_hgnc_id": 18261,
"dbsnp": "rs17852307",
"frequency_reference_population": 0.0067185108,
"hom_count_reference_population": 53,
"allele_count_reference_population": 10794,
"gnomad_exomes_af": 0.00689692,
"gnomad_genomes_af": 0.00499542,
"gnomad_exomes_ac": 10041,
"gnomad_genomes_ac": 753,
"gnomad_exomes_homalt": 45,
"gnomad_genomes_homalt": 8,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.6499999761581421,
"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": -0.65,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.359,
"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": -17,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BS2",
"acmg_by_gene": [
{
"score": -17,
"benign_score": 17,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_017921.4",
"gene_symbol": "NPLOC4",
"hgnc_id": 18261,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1323G>T",
"hgvs_p": "p.Arg441Arg"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}