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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: 17-67719906-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=67719906&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 67719906,
"ref": "G",
"alt": "C",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_015462.5",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOL11",
"gene_hgnc_id": 24557,
"hgvs_c": "c.256G>C",
"hgvs_p": "p.Val86Leu",
"transcript": "NM_015462.5",
"protein_id": "NP_056277.2",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 719,
"cds_start": 256,
"cds_end": null,
"cds_length": 2160,
"cdna_start": 268,
"cdna_end": null,
"cdna_length": 2844,
"mane_select": "ENST00000253247.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015462.5"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOL11",
"gene_hgnc_id": 24557,
"hgvs_c": "c.256G>C",
"hgvs_p": "p.Val86Leu",
"transcript": "ENST00000253247.9",
"protein_id": "ENSP00000253247.4",
"transcript_support_level": 1,
"aa_start": 86,
"aa_end": null,
"aa_length": 719,
"cds_start": 256,
"cds_end": null,
"cds_length": 2160,
"cdna_start": 268,
"cdna_end": null,
"cdna_length": 2844,
"mane_select": "NM_015462.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000253247.9"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOL11",
"gene_hgnc_id": 24557,
"hgvs_c": "c.406G>C",
"hgvs_p": "p.Val136Leu",
"transcript": "ENST00000918421.1",
"protein_id": "ENSP00000588480.1",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 769,
"cds_start": 406,
"cds_end": null,
"cds_length": 2310,
"cdna_start": 440,
"cdna_end": null,
"cdna_length": 2636,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918421.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOL11",
"gene_hgnc_id": 24557,
"hgvs_c": "c.256G>C",
"hgvs_p": "p.Val86Leu",
"transcript": "ENST00000918420.1",
"protein_id": "ENSP00000588479.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 724,
"cds_start": 256,
"cds_end": null,
"cds_length": 2175,
"cdna_start": 275,
"cdna_end": null,
"cdna_length": 2538,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918420.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOL11",
"gene_hgnc_id": 24557,
"hgvs_c": "c.244G>C",
"hgvs_p": "p.Val82Leu",
"transcript": "ENST00000918418.1",
"protein_id": "ENSP00000588477.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 715,
"cds_start": 244,
"cds_end": null,
"cds_length": 2148,
"cdna_start": 309,
"cdna_end": null,
"cdna_length": 2555,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918418.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOL11",
"gene_hgnc_id": 24557,
"hgvs_c": "c.256G>C",
"hgvs_p": "p.Val86Leu",
"transcript": "ENST00000898240.1",
"protein_id": "ENSP00000568299.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 710,
"cds_start": 256,
"cds_end": null,
"cds_length": 2133,
"cdna_start": 269,
"cdna_end": null,
"cdna_length": 2490,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898240.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOL11",
"gene_hgnc_id": 24557,
"hgvs_c": "c.256G>C",
"hgvs_p": "p.Val86Leu",
"transcript": "ENST00000898239.1",
"protein_id": "ENSP00000568298.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 694,
"cds_start": 256,
"cds_end": null,
"cds_length": 2085,
"cdna_start": 392,
"cdna_end": null,
"cdna_length": 2565,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898239.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOL11",
"gene_hgnc_id": 24557,
"hgvs_c": "c.256G>C",
"hgvs_p": "p.Val86Leu",
"transcript": "ENST00000898242.1",
"protein_id": "ENSP00000568301.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 694,
"cds_start": 256,
"cds_end": null,
"cds_length": 2085,
"cdna_start": 273,
"cdna_end": null,
"cdna_length": 2381,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898242.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOL11",
"gene_hgnc_id": 24557,
"hgvs_c": "c.151G>C",
"hgvs_p": "p.Val51Leu",
"transcript": "ENST00000955840.1",
"protein_id": "ENSP00000625899.1",
"transcript_support_level": null,
"aa_start": 51,
"aa_end": null,
"aa_length": 684,
"cds_start": 151,
"cds_end": null,
"cds_length": 2055,
"cdna_start": 160,
"cdna_end": null,
"cdna_length": 2408,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955840.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOL11",
"gene_hgnc_id": 24557,
"hgvs_c": "c.142G>C",
"hgvs_p": "p.Val48Leu",
"transcript": "ENST00000918419.1",
"protein_id": "ENSP00000588478.1",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 681,
"cds_start": 142,
"cds_end": null,
"cds_length": 2046,
"cdna_start": 181,
"cdna_end": null,
"cdna_length": 2425,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918419.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOL11",
"gene_hgnc_id": 24557,
"hgvs_c": "c.-233G>C",
"hgvs_p": null,
"transcript": "NM_001303272.2",
"protein_id": "NP_001290201.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 537,
"cds_start": null,
"cds_end": null,
"cds_length": 1614,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2786,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001303272.2"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOL11",
"gene_hgnc_id": 24557,
"hgvs_c": "c.313G>C",
"hgvs_p": "p.Val105Leu",
"transcript": "ENST00000581106.5",
"protein_id": "ENSP00000463662.1",
"transcript_support_level": 3,
"aa_start": 105,
"aa_end": null,
"aa_length": 188,
"cds_start": 313,
"cds_end": null,
"cds_length": 567,
"cdna_start": 330,
"cdna_end": null,
"cdna_length": 584,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000581106.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOL11",
"gene_hgnc_id": 24557,
"hgvs_c": "c.-233G>C",
"hgvs_p": null,
"transcript": "NM_001303272.2",
"protein_id": "NP_001290201.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 537,
"cds_start": null,
"cds_end": null,
"cds_length": 1614,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2786,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001303272.2"
},
{
"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": 17,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "NOL11",
"gene_hgnc_id": 24557,
"hgvs_c": "c.255+119G>C",
"hgvs_p": null,
"transcript": "ENST00000918422.1",
"protein_id": "ENSP00000588481.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 700,
"cds_start": null,
"cds_end": null,
"cds_length": 2103,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2405,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918422.1"
},
{
"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": 16,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NOL11",
"gene_hgnc_id": 24557,
"hgvs_c": "c.142-1472G>C",
"hgvs_p": null,
"transcript": "ENST00000898241.1",
"protein_id": "ENSP00000568300.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 662,
"cds_start": null,
"cds_end": null,
"cds_length": 1989,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2317,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898241.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOL11",
"gene_hgnc_id": 24557,
"hgvs_c": "n.256G>C",
"hgvs_p": null,
"transcript": "ENST00000581375.5",
"protein_id": "ENSP00000463219.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2448,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000581375.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOL11",
"gene_hgnc_id": 24557,
"hgvs_c": "n.259G>C",
"hgvs_p": null,
"transcript": "ENST00000581966.5",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 476,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000581966.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOL11",
"gene_hgnc_id": 24557,
"hgvs_c": "n.403G>C",
"hgvs_p": null,
"transcript": "ENST00000584942.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 552,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000584942.1"
},
{
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000288109",
"gene_hgnc_id": null,
"hgvs_c": "n.198-30533C>G",
"hgvs_p": null,
"transcript": "ENST00000832617.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 768,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000832617.1"
},
{
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000288109",
"gene_hgnc_id": null,
"hgvs_c": "n.212-30533C>G",
"hgvs_p": null,
"transcript": "ENST00000832618.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 422,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000832618.1"
}
],
"gene_symbol": "NOL11",
"gene_hgnc_id": 24557,
"dbsnp": "rs781745657",
"frequency_reference_population": 7.056884e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 7.05688e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5447008013725281,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.7540000081062317,
"splice_prediction_selected": "Pathogenic",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.22,
"revel_prediction": "Benign",
"alphamissense_score": 0.5788,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.21,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.088,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.38,
"spliceai_max_prediction": "Uncertain_significance",
"dbscsnv_ada_score": 0.918787282834613,
"dbscsnv_ada_prediction": "Benign",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_015462.5",
"gene_symbol": "NOL11",
"hgnc_id": 24557,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.256G>C",
"hgvs_p": "p.Val86Leu"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000832617.1",
"gene_symbol": "ENSG00000288109",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.198-30533C>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
}