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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: 16-58521000-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=58521000&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 58521000,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_016284.5",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 49,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNOT1",
"gene_hgnc_id": 7877,
"hgvs_c": "c.7089G>A",
"hgvs_p": "p.Gln2363Gln",
"transcript": "NM_016284.5",
"protein_id": "NP_057368.3",
"transcript_support_level": null,
"aa_start": 2363,
"aa_end": null,
"aa_length": 2376,
"cds_start": 7089,
"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": "Q",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 49,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNOT1",
"gene_hgnc_id": 7877,
"hgvs_c": "c.7089G>A",
"hgvs_p": "p.Gln2363Gln",
"transcript": "ENST00000317147.10",
"protein_id": "ENSP00000320949.5",
"transcript_support_level": 1,
"aa_start": 2363,
"aa_end": null,
"aa_length": 2376,
"cds_start": 7089,
"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": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 49,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNOT1",
"gene_hgnc_id": 7877,
"hgvs_c": "c.7074G>A",
"hgvs_p": "p.Gln2358Gln",
"transcript": "ENST00000569240.5",
"protein_id": "ENSP00000455635.1",
"transcript_support_level": 1,
"aa_start": 2358,
"aa_end": null,
"aa_length": 2371,
"cds_start": 7074,
"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": 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.*1971C>T",
"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.*1971C>T",
"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": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 50,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNOT1",
"gene_hgnc_id": 7877,
"hgvs_c": "n.*804G>A",
"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": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 50,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNOT1",
"gene_hgnc_id": 7877,
"hgvs_c": "n.*804G>A",
"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": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 50,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNOT1",
"gene_hgnc_id": 7877,
"hgvs_c": "c.7089G>A",
"hgvs_p": "p.Gln2363Gln",
"transcript": "ENST00000938268.1",
"protein_id": "ENSP00000608327.1",
"transcript_support_level": null,
"aa_start": 2363,
"aa_end": null,
"aa_length": 2376,
"cds_start": 7089,
"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": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 49,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNOT1",
"gene_hgnc_id": 7877,
"hgvs_c": "c.7074G>A",
"hgvs_p": "p.Gln2358Gln",
"transcript": "NM_001265612.2",
"protein_id": "NP_001252541.1",
"transcript_support_level": null,
"aa_start": 2358,
"aa_end": null,
"aa_length": 2371,
"cds_start": 7074,
"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": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 50,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNOT1",
"gene_hgnc_id": 7877,
"hgvs_c": "c.7074G>A",
"hgvs_p": "p.Gln2358Gln",
"transcript": "ENST00000938270.1",
"protein_id": "ENSP00000608329.1",
"transcript_support_level": null,
"aa_start": 2358,
"aa_end": null,
"aa_length": 2371,
"cds_start": 7074,
"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": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 49,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNOT1",
"gene_hgnc_id": 7877,
"hgvs_c": "c.7071G>A",
"hgvs_p": "p.Gln2357Gln",
"transcript": "ENST00000880845.1",
"protein_id": "ENSP00000550904.1",
"transcript_support_level": null,
"aa_start": 2357,
"aa_end": null,
"aa_length": 2370,
"cds_start": 7071,
"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": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 48,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNOT1",
"gene_hgnc_id": 7877,
"hgvs_c": "c.6840G>A",
"hgvs_p": "p.Gln2280Gln",
"transcript": "ENST00000938267.1",
"protein_id": "ENSP00000608326.1",
"transcript_support_level": null,
"aa_start": 2280,
"aa_end": null,
"aa_length": 2293,
"cds_start": 6840,
"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": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNOT1",
"gene_hgnc_id": 7877,
"hgvs_c": "c.6243G>A",
"hgvs_p": "p.Gln2081Gln",
"transcript": "ENST00000938269.1",
"protein_id": "ENSP00000608328.1",
"transcript_support_level": null,
"aa_start": 2081,
"aa_end": null,
"aa_length": 2094,
"cds_start": 6243,
"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": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETD6",
"gene_hgnc_id": 26116,
"hgvs_c": "c.*1971C>T",
"hgvs_p": null,
"transcript": "ENST00000394266.8",
"protein_id": "ENSP00000377809.4",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 404,
"cds_start": null,
"cds_end": null,
"cds_length": 1215,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000394266.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNOT1",
"gene_hgnc_id": 7877,
"hgvs_c": "n.1964G>A",
"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": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 50,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNOT1",
"gene_hgnc_id": 7877,
"hgvs_c": "n.7530G>A",
"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"
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNOT1",
"gene_hgnc_id": 7877,
"hgvs_c": "n.*15G>A",
"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"
}
],
"gene_symbol": "CNOT1",
"gene_hgnc_id": 7877,
"dbsnp": "rs112325858",
"frequency_reference_population": 0.0000136820245,
"hom_count_reference_population": 0,
"allele_count_reference_population": 20,
"gnomad_exomes_af": 0.000013682,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 20,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.46000000834465027,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.46,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.785,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.02,
"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": -8,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6_Moderate,BS2",
"acmg_by_gene": [
{
"score": -8,
"benign_score": 8,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6_Moderate",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_016284.5",
"gene_symbol": "CNOT1",
"hgnc_id": 7877,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.7089G>A",
"hgvs_p": "p.Gln2363Gln"
},
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_001160305.4",
"gene_symbol": "SETD6",
"hgnc_id": 26116,
"effects": [
"3_prime_UTR_variant"
],
"inheritance_mode": "Unknown",
"hgvs_c": "c.*1971C>T",
"hgvs_p": null
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}