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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: 17-81559375-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=81559375&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 81559375,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_017921.4",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPLOC4",
"gene_hgnc_id": 18261,
"hgvs_c": "c.1711G>A",
"hgvs_p": "p.Ala571Thr",
"transcript": "NM_017921.4",
"protein_id": "NP_060391.2",
"transcript_support_level": null,
"aa_start": 571,
"aa_end": null,
"aa_length": 608,
"cds_start": 1711,
"cds_end": null,
"cds_length": 1827,
"cdna_start": 1893,
"cdna_end": null,
"cdna_length": 4381,
"mane_select": "ENST00000331134.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPLOC4",
"gene_hgnc_id": 18261,
"hgvs_c": "c.1711G>A",
"hgvs_p": "p.Ala571Thr",
"transcript": "ENST00000331134.11",
"protein_id": "ENSP00000331487.5",
"transcript_support_level": 1,
"aa_start": 571,
"aa_end": null,
"aa_length": 608,
"cds_start": 1711,
"cds_end": null,
"cds_length": 1827,
"cdna_start": 1893,
"cdna_end": null,
"cdna_length": 4381,
"mane_select": "NM_017921.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPLOC4",
"gene_hgnc_id": 18261,
"hgvs_c": "c.369G>A",
"hgvs_p": "p.Ala123Ala",
"transcript": "ENST00000573519.5",
"protein_id": "ENSP00000459457.1",
"transcript_support_level": 1,
"aa_start": 123,
"aa_end": null,
"aa_length": 144,
"cds_start": 369,
"cds_end": null,
"cds_length": 435,
"cdna_start": 370,
"cdna_end": null,
"cdna_length": 654,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPLOC4",
"gene_hgnc_id": 18261,
"hgvs_c": "c.105G>A",
"hgvs_p": "p.Ala35Ala",
"transcript": "ENST00000572760.5",
"protein_id": "ENSP00000467400.1",
"transcript_support_level": 1,
"aa_start": 35,
"aa_end": null,
"aa_length": 56,
"cds_start": 105,
"cds_end": null,
"cds_length": 171,
"cdna_start": 360,
"cdna_end": null,
"cdna_length": 946,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPLOC4",
"gene_hgnc_id": 18261,
"hgvs_c": "c.1840G>A",
"hgvs_p": "p.Ala614Thr",
"transcript": "ENST00000705719.1",
"protein_id": "ENSP00000516165.1",
"transcript_support_level": null,
"aa_start": 614,
"aa_end": null,
"aa_length": 651,
"cds_start": 1840,
"cds_end": null,
"cds_length": 1956,
"cdna_start": 1893,
"cdna_end": null,
"cdna_length": 4381,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPLOC4",
"gene_hgnc_id": 18261,
"hgvs_c": "c.1726G>A",
"hgvs_p": "p.Ala576Thr",
"transcript": "NM_001369698.1",
"protein_id": "NP_001356627.1",
"transcript_support_level": null,
"aa_start": 576,
"aa_end": null,
"aa_length": 613,
"cds_start": 1726,
"cds_end": null,
"cds_length": 1842,
"cdna_start": 1908,
"cdna_end": null,
"cdna_length": 4396,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPLOC4",
"gene_hgnc_id": 18261,
"hgvs_c": "c.1770G>A",
"hgvs_p": "p.Ala590Ala",
"transcript": "NM_001438810.1",
"protein_id": "NP_001425739.1",
"transcript_support_level": null,
"aa_start": 590,
"aa_end": null,
"aa_length": 611,
"cds_start": 1770,
"cds_end": null,
"cds_length": 1836,
"cdna_start": 1952,
"cdna_end": null,
"cdna_length": 4440,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPLOC4",
"gene_hgnc_id": 18261,
"hgvs_c": "c.483G>A",
"hgvs_p": "p.Ala161Ala",
"transcript": "ENST00000571714.5",
"protein_id": "ENSP00000460465.1",
"transcript_support_level": 5,
"aa_start": 161,
"aa_end": null,
"aa_length": 182,
"cds_start": 483,
"cds_end": null,
"cds_length": 549,
"cdna_start": 483,
"cdna_end": null,
"cdna_length": 676,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPLOC4",
"gene_hgnc_id": 18261,
"hgvs_c": "c.450G>A",
"hgvs_p": "p.Ala150Ala",
"transcript": "ENST00000572824.1",
"protein_id": "ENSP00000458384.1",
"transcript_support_level": 4,
"aa_start": 150,
"aa_end": null,
"aa_length": 171,
"cds_start": 450,
"cds_end": null,
"cds_length": 516,
"cdna_start": 452,
"cdna_end": null,
"cdna_length": 559,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPLOC4",
"gene_hgnc_id": 18261,
"hgvs_c": "c.105G>A",
"hgvs_p": "p.Ala35Ala",
"transcript": "ENST00000573876.1",
"protein_id": "ENSP00000465247.1",
"transcript_support_level": 4,
"aa_start": 35,
"aa_end": null,
"aa_length": 56,
"cds_start": 105,
"cds_end": null,
"cds_length": 171,
"cdna_start": 310,
"cdna_end": null,
"cdna_length": 560,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPLOC4",
"gene_hgnc_id": 18261,
"hgvs_c": "c.1785G>A",
"hgvs_p": "p.Ala595Ala",
"transcript": "XM_011524980.2",
"protein_id": "XP_011523282.1",
"transcript_support_level": null,
"aa_start": 595,
"aa_end": null,
"aa_length": 616,
"cds_start": 1785,
"cds_end": null,
"cds_length": 1851,
"cdna_start": 1967,
"cdna_end": null,
"cdna_length": 4457,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPLOC4",
"gene_hgnc_id": 18261,
"hgvs_c": "c.1107G>A",
"hgvs_p": "p.Ala369Ala",
"transcript": "XM_047436368.1",
"protein_id": "XP_047292324.1",
"transcript_support_level": null,
"aa_start": 369,
"aa_end": null,
"aa_length": 390,
"cds_start": 1107,
"cds_end": null,
"cds_length": 1173,
"cdna_start": 1274,
"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": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPLOC4",
"gene_hgnc_id": 18261,
"hgvs_c": "n.256G>A",
"hgvs_p": null,
"transcript": "ENST00000572346.5",
"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": 567,
"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": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPLOC4",
"gene_hgnc_id": 18261,
"hgvs_c": "n.*172G>A",
"hgvs_p": null,
"transcript": "ENST00000573212.5",
"protein_id": "ENSP00000459462.1",
"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": 564,
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPLOC4",
"gene_hgnc_id": 18261,
"hgvs_c": "n.211G>A",
"hgvs_p": null,
"transcript": "ENST00000574964.1",
"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": 572,
"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": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPLOC4",
"gene_hgnc_id": 18261,
"hgvs_c": "n.506G>A",
"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": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPLOC4",
"gene_hgnc_id": 18261,
"hgvs_c": "n.277G>A",
"hgvs_p": null,
"transcript": "NR_130140.2",
"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": 2765,
"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": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPLOC4",
"gene_hgnc_id": 18261,
"hgvs_c": "n.*172G>A",
"hgvs_p": null,
"transcript": "ENST00000573212.5",
"protein_id": "ENSP00000459462.1",
"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": 564,
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPLOC4",
"gene_hgnc_id": 18261,
"hgvs_c": "n.*21G>A",
"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
}
],
"gene_symbol": "NPLOC4",
"gene_hgnc_id": 18261,
"dbsnp": "rs760752376",
"frequency_reference_population": 0.000020499365,
"hom_count_reference_population": 0,
"allele_count_reference_population": 33,
"gnomad_exomes_af": 0.0000205818,
"gnomad_genomes_af": 0.0000197099,
"gnomad_exomes_ac": 30,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.3561716079711914,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.225,
"revel_prediction": "Benign",
"alphamissense_score": 0.0737,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.16,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 6.742,
"phylop100way_prediction": "Uncertain_significance",
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_017921.4",
"gene_symbol": "NPLOC4",
"hgnc_id": 18261,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1711G>A",
"hgvs_p": "p.Ala571Thr"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}