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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: 7-151376710-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=151376710&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 151376710,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001243351.2",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUB1",
"gene_hgnc_id": 17623,
"hgvs_c": "c.1568C>T",
"hgvs_p": "p.Ala523Val",
"transcript": "NM_001243351.2",
"protein_id": "NP_001230280.2",
"transcript_support_level": null,
"aa_start": 523,
"aa_end": null,
"aa_length": 615,
"cds_start": 1568,
"cds_end": null,
"cds_length": 1848,
"cdna_start": 1605,
"cdna_end": null,
"cdna_length": 3109,
"mane_select": "ENST00000568733.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUB1",
"gene_hgnc_id": 17623,
"hgvs_c": "c.1568C>T",
"hgvs_p": "p.Ala523Val",
"transcript": "ENST00000568733.6",
"protein_id": "ENSP00000454264.2",
"transcript_support_level": 1,
"aa_start": 523,
"aa_end": null,
"aa_length": 615,
"cds_start": 1568,
"cds_end": null,
"cds_length": 1848,
"cdna_start": 1605,
"cdna_end": null,
"cdna_length": 3109,
"mane_select": "NM_001243351.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUB1",
"gene_hgnc_id": 17623,
"hgvs_c": "c.1526C>T",
"hgvs_p": "p.Ala509Val",
"transcript": "ENST00000413040.7",
"protein_id": "ENSP00000398644.3",
"transcript_support_level": 1,
"aa_start": 509,
"aa_end": null,
"aa_length": 601,
"cds_start": 1526,
"cds_end": null,
"cds_length": 1806,
"cdna_start": 1603,
"cdna_end": null,
"cdna_length": 3107,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUB1",
"gene_hgnc_id": 17623,
"hgvs_c": "c.1568C>T",
"hgvs_p": "p.Ala523Val",
"transcript": "NM_001363529.2",
"protein_id": "NP_001350458.1",
"transcript_support_level": null,
"aa_start": 523,
"aa_end": null,
"aa_length": 615,
"cds_start": 1568,
"cds_end": null,
"cds_length": 1848,
"cdna_start": 1724,
"cdna_end": null,
"cdna_length": 3228,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUB1",
"gene_hgnc_id": 17623,
"hgvs_c": "c.1568C>T",
"hgvs_p": "p.Ala523Val",
"transcript": "ENST00000470229.6",
"protein_id": "ENSP00000418234.2",
"transcript_support_level": 2,
"aa_start": 523,
"aa_end": null,
"aa_length": 615,
"cds_start": 1568,
"cds_end": null,
"cds_length": 1848,
"cdna_start": 1724,
"cdna_end": null,
"cdna_length": 3210,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUB1",
"gene_hgnc_id": 17623,
"hgvs_c": "c.1526C>T",
"hgvs_p": "p.Ala509Val",
"transcript": "NM_001385353.1",
"protein_id": "NP_001372282.1",
"transcript_support_level": null,
"aa_start": 509,
"aa_end": null,
"aa_length": 601,
"cds_start": 1526,
"cds_end": null,
"cds_length": 1806,
"cdna_start": 1682,
"cdna_end": null,
"cdna_length": 3186,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUB1",
"gene_hgnc_id": 17623,
"hgvs_c": "c.1526C>T",
"hgvs_p": "p.Ala509Val",
"transcript": "NM_016118.5",
"protein_id": "NP_057202.4",
"transcript_support_level": null,
"aa_start": 509,
"aa_end": null,
"aa_length": 601,
"cds_start": 1526,
"cds_end": null,
"cds_length": 1806,
"cdna_start": 1563,
"cdna_end": null,
"cdna_length": 3067,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUB1",
"gene_hgnc_id": 17623,
"hgvs_c": "c.1523C>T",
"hgvs_p": "p.Ala508Val",
"transcript": "NM_001385354.1",
"protein_id": "NP_001372283.1",
"transcript_support_level": null,
"aa_start": 508,
"aa_end": null,
"aa_length": 600,
"cds_start": 1523,
"cds_end": null,
"cds_length": 1803,
"cdna_start": 1560,
"cdna_end": null,
"cdna_length": 3064,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUB1",
"gene_hgnc_id": 17623,
"hgvs_c": "c.1523C>T",
"hgvs_p": "p.Ala508Val",
"transcript": "NM_001385355.1",
"protein_id": "NP_001372284.1",
"transcript_support_level": null,
"aa_start": 508,
"aa_end": null,
"aa_length": 600,
"cds_start": 1523,
"cds_end": null,
"cds_length": 1803,
"cdna_start": 1679,
"cdna_end": null,
"cdna_length": 3183,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUB1",
"gene_hgnc_id": 17623,
"hgvs_c": "c.1421C>T",
"hgvs_p": "p.Ala474Val",
"transcript": "NM_001385356.1",
"protein_id": "NP_001372285.1",
"transcript_support_level": null,
"aa_start": 474,
"aa_end": null,
"aa_length": 566,
"cds_start": 1421,
"cds_end": null,
"cds_length": 1701,
"cdna_start": 1577,
"cdna_end": null,
"cdna_length": 3081,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUB1",
"gene_hgnc_id": 17623,
"hgvs_c": "c.1421C>T",
"hgvs_p": "p.Ala474Val",
"transcript": "NM_001385361.1",
"protein_id": "NP_001372290.1",
"transcript_support_level": null,
"aa_start": 474,
"aa_end": null,
"aa_length": 566,
"cds_start": 1421,
"cds_end": null,
"cds_length": 1701,
"cdna_start": 1458,
"cdna_end": null,
"cdna_length": 2962,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUB1",
"gene_hgnc_id": 17623,
"hgvs_c": "c.326C>T",
"hgvs_p": "p.Ala109Val",
"transcript": "ENST00000460712.1",
"protein_id": "ENSP00000420344.1",
"transcript_support_level": 2,
"aa_start": 109,
"aa_end": null,
"aa_length": 201,
"cds_start": 326,
"cds_end": null,
"cds_length": 606,
"cdna_start": 328,
"cdna_end": null,
"cdna_length": 664,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUB1",
"gene_hgnc_id": 17623,
"hgvs_c": "c.1565C>T",
"hgvs_p": "p.Ala522Val",
"transcript": "XM_017012304.2",
"protein_id": "XP_016867793.2",
"transcript_support_level": null,
"aa_start": 522,
"aa_end": null,
"aa_length": 614,
"cds_start": 1565,
"cds_end": null,
"cds_length": 1845,
"cdna_start": 1602,
"cdna_end": null,
"cdna_length": 3106,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUB1",
"gene_hgnc_id": 17623,
"hgvs_c": "c.1418C>T",
"hgvs_p": "p.Ala473Val",
"transcript": "XM_017012308.2",
"protein_id": "XP_016867797.2",
"transcript_support_level": null,
"aa_start": 473,
"aa_end": null,
"aa_length": 565,
"cds_start": 1418,
"cds_end": null,
"cds_length": 1698,
"cdna_start": 1455,
"cdna_end": null,
"cdna_length": 2959,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUB1",
"gene_hgnc_id": 17623,
"hgvs_c": "c.1109C>T",
"hgvs_p": "p.Ala370Val",
"transcript": "XM_024446798.2",
"protein_id": "XP_024302566.1",
"transcript_support_level": null,
"aa_start": 370,
"aa_end": null,
"aa_length": 462,
"cds_start": 1109,
"cds_end": null,
"cds_length": 1389,
"cdna_start": 1451,
"cdna_end": null,
"cdna_length": 2955,
"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": "WDR86",
"gene_hgnc_id": 28020,
"hgvs_c": "n.580G>A",
"hgvs_p": null,
"transcript": "ENST00000463000.1",
"protein_id": null,
"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": 1381,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"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": "WDR86",
"gene_hgnc_id": 28020,
"hgvs_c": "c.*3663G>A",
"hgvs_p": null,
"transcript": "XM_047420328.1",
"protein_id": "XP_047276284.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 197,
"cds_start": -4,
"cds_end": null,
"cds_length": 594,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 12353,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "NUB1",
"gene_hgnc_id": 17623,
"dbsnp": "rs1798292031",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": 0,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 0,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.24807026982307434,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.201,
"revel_prediction": "Benign",
"alphamissense_score": 0.1468,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.38,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.978,
"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": 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": "NM_001243351.2",
"gene_symbol": "NUB1",
"hgnc_id": 17623,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1568C>T",
"hgvs_p": "p.Ala523Val"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000463000.1",
"gene_symbol": "WDR86",
"hgnc_id": 28020,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "n.580G>A",
"hgvs_p": null
}
],
"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
}