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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: 16-58523363-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=58523363&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 58523363,
"ref": "C",
"alt": "A",
"effect": "splice_region_variant,intron_variant",
"transcript": "NM_016284.5",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETD6",
"gene_hgnc_id": 26116,
"hgvs_c": "c.*4334C>A",
"hgvs_p": null,
"transcript": "NM_001160305.4",
"protein_id": "NP_001153777.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 473,
"cds_start": null,
"cds_end": null,
"cds_length": 1422,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000219315.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001160305.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETD6",
"gene_hgnc_id": 26116,
"hgvs_c": "c.*4334C>A",
"hgvs_p": null,
"transcript": "ENST00000219315.9",
"protein_id": "ENSP00000219315.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 473,
"cds_start": null,
"cds_end": null,
"cds_length": 1422,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001160305.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000219315.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": 47,
"intron_rank_end": null,
"gene_symbol": "CNOT1",
"gene_hgnc_id": 7877,
"hgvs_c": "c.6917+7G>T",
"hgvs_p": null,
"transcript": "NM_016284.5",
"protein_id": "NP_057368.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2376,
"cds_start": null,
"cds_end": null,
"cds_length": 7131,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000317147.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016284.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": 47,
"intron_rank_end": null,
"gene_symbol": "CNOT1",
"gene_hgnc_id": 7877,
"hgvs_c": "c.6917+7G>T",
"hgvs_p": null,
"transcript": "ENST00000317147.10",
"protein_id": "ENSP00000320949.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 2376,
"cds_start": null,
"cds_end": null,
"cds_length": 7131,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_016284.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000317147.10"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": 47,
"intron_rank_end": null,
"gene_symbol": "CNOT1",
"gene_hgnc_id": 7877,
"hgvs_c": "c.6902+7G>T",
"hgvs_p": null,
"transcript": "ENST00000569240.5",
"protein_id": "ENSP00000455635.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 2371,
"cds_start": null,
"cds_end": null,
"cds_length": 7116,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000569240.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": 48,
"intron_rank_end": null,
"gene_symbol": "CNOT1",
"gene_hgnc_id": 7877,
"hgvs_c": "n.*632+7G>T",
"hgvs_p": null,
"transcript": "ENST00000567188.5",
"protein_id": "ENSP00000456649.1",
"transcript_support_level": 1,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000567188.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": 48,
"intron_rank_end": null,
"gene_symbol": "CNOT1",
"gene_hgnc_id": 7877,
"hgvs_c": "c.6917+7G>T",
"hgvs_p": null,
"transcript": "ENST00000938268.1",
"protein_id": "ENSP00000608327.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2376,
"cds_start": null,
"cds_end": null,
"cds_length": 7131,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938268.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": 47,
"intron_rank_end": null,
"gene_symbol": "CNOT1",
"gene_hgnc_id": 7877,
"hgvs_c": "c.6902+7G>T",
"hgvs_p": null,
"transcript": "NM_001265612.2",
"protein_id": "NP_001252541.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2371,
"cds_start": null,
"cds_end": null,
"cds_length": 7116,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001265612.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": 48,
"intron_rank_end": null,
"gene_symbol": "CNOT1",
"gene_hgnc_id": 7877,
"hgvs_c": "c.6902+7G>T",
"hgvs_p": null,
"transcript": "ENST00000938270.1",
"protein_id": "ENSP00000608329.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2371,
"cds_start": null,
"cds_end": null,
"cds_length": 7116,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938270.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": 47,
"intron_rank_end": null,
"gene_symbol": "CNOT1",
"gene_hgnc_id": 7877,
"hgvs_c": "c.6899+7G>T",
"hgvs_p": null,
"transcript": "ENST00000880845.1",
"protein_id": "ENSP00000550904.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2370,
"cds_start": null,
"cds_end": null,
"cds_length": 7113,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880845.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": 46,
"intron_rank_end": null,
"gene_symbol": "CNOT1",
"gene_hgnc_id": 7877,
"hgvs_c": "c.6668+7G>T",
"hgvs_p": null,
"transcript": "ENST00000938267.1",
"protein_id": "ENSP00000608326.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2293,
"cds_start": null,
"cds_end": null,
"cds_length": 6882,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938267.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": 42,
"intron_rank_end": null,
"gene_symbol": "CNOT1",
"gene_hgnc_id": 7877,
"hgvs_c": "c.6071+7G>T",
"hgvs_p": null,
"transcript": "ENST00000938269.1",
"protein_id": "ENSP00000608328.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2094,
"cds_start": null,
"cds_end": null,
"cds_length": 6285,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938269.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000276259",
"gene_hgnc_id": null,
"hgvs_c": "n.394C>A",
"hgvs_p": null,
"transcript": "ENST00000622896.1",
"protein_id": null,
"transcript_support_level": 6,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000622896.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "CNOT1",
"gene_hgnc_id": 7877,
"hgvs_c": "n.1792+7G>T",
"hgvs_p": null,
"transcript": "ENST00000563130.5",
"protein_id": null,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000563130.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CNOT1",
"gene_hgnc_id": 7877,
"hgvs_c": "n.336+7G>T",
"hgvs_p": null,
"transcript": "ENST00000569924.1",
"protein_id": null,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000569924.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": 48,
"intron_rank_end": null,
"gene_symbol": "CNOT1",
"gene_hgnc_id": 7877,
"hgvs_c": "n.7358+7G>T",
"hgvs_p": null,
"transcript": "NR_049763.2",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_049763.2"
}
],
"gene_symbol": "CNOT1",
"gene_hgnc_id": 7877,
"dbsnp": "rs200707564",
"frequency_reference_population": 7.068836e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 7.06884e-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": -0.8100000023841858,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.81,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.078,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.0000334303792003554,
"dbscsnv_ada_prediction": "Benign",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_016284.5",
"gene_symbol": "CNOT1",
"hgnc_id": 7877,
"effects": [
"splice_region_variant",
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.6917+7G>T",
"hgvs_p": null
},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_001160305.4",
"gene_symbol": "SETD6",
"hgnc_id": 26116,
"effects": [
"3_prime_UTR_variant"
],
"inheritance_mode": "Unknown",
"hgvs_c": "c.*4334C>A",
"hgvs_p": null
},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000622896.1",
"gene_symbol": "ENSG00000276259",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.394C>A",
"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
}