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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: 5-180529281-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=180529281&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 180529281,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001370472.1",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNOT6",
"gene_hgnc_id": 14099,
"hgvs_c": "c.5C>T",
"hgvs_p": "p.Pro2Leu",
"transcript": "NM_001370472.1",
"protein_id": "NP_001357401.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 557,
"cds_start": 5,
"cds_end": null,
"cds_length": 1674,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000261951.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370472.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNOT6",
"gene_hgnc_id": 14099,
"hgvs_c": "c.5C>T",
"hgvs_p": "p.Pro2Leu",
"transcript": "ENST00000261951.9",
"protein_id": "ENSP00000261951.4",
"transcript_support_level": 5,
"aa_start": 2,
"aa_end": null,
"aa_length": 557,
"cds_start": 5,
"cds_end": null,
"cds_length": 1674,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001370472.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000261951.9"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNOT6",
"gene_hgnc_id": 14099,
"hgvs_c": "c.5C>T",
"hgvs_p": "p.Pro2Leu",
"transcript": "ENST00000393356.7",
"protein_id": "ENSP00000377024.1",
"transcript_support_level": 1,
"aa_start": 2,
"aa_end": null,
"aa_length": 557,
"cds_start": 5,
"cds_end": null,
"cds_length": 1674,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000393356.7"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNOT6",
"gene_hgnc_id": 14099,
"hgvs_c": "c.5C>T",
"hgvs_p": "p.Pro2Leu",
"transcript": "ENST00000618123.4",
"protein_id": "ENSP00000481893.1",
"transcript_support_level": 1,
"aa_start": 2,
"aa_end": null,
"aa_length": 557,
"cds_start": 5,
"cds_end": null,
"cds_length": 1674,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000618123.4"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNOT6",
"gene_hgnc_id": 14099,
"hgvs_c": "c.5C>T",
"hgvs_p": "p.Pro2Leu",
"transcript": "ENST00000968018.1",
"protein_id": "ENSP00000638077.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 557,
"cds_start": 5,
"cds_end": null,
"cds_length": 1674,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968018.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNOT6",
"gene_hgnc_id": 14099,
"hgvs_c": "c.5C>T",
"hgvs_p": "p.Pro2Leu",
"transcript": "NM_001370473.1",
"protein_id": "NP_001357402.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 552,
"cds_start": 5,
"cds_end": null,
"cds_length": 1659,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370473.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNOT6",
"gene_hgnc_id": 14099,
"hgvs_c": "c.5C>T",
"hgvs_p": "p.Pro2Leu",
"transcript": "ENST00000968017.1",
"protein_id": "ENSP00000638076.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 552,
"cds_start": 5,
"cds_end": null,
"cds_length": 1659,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968017.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNOT6",
"gene_hgnc_id": 14099,
"hgvs_c": "c.5C>T",
"hgvs_p": "p.Pro2Leu",
"transcript": "ENST00000968019.1",
"protein_id": "ENSP00000638078.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 466,
"cds_start": 5,
"cds_end": null,
"cds_length": 1401,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968019.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNOT6",
"gene_hgnc_id": 14099,
"hgvs_c": "c.5C>T",
"hgvs_p": "p.Pro2Leu",
"transcript": "ENST00000504343.1",
"protein_id": "ENSP00000422087.1",
"transcript_support_level": 3,
"aa_start": 2,
"aa_end": null,
"aa_length": 233,
"cds_start": 5,
"cds_end": null,
"cds_length": 704,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000504343.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNOT6",
"gene_hgnc_id": 14099,
"hgvs_c": "c.5C>T",
"hgvs_p": "p.Pro2Leu",
"transcript": "XM_047417436.1",
"protein_id": "XP_047273392.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 557,
"cds_start": 5,
"cds_end": null,
"cds_length": 1674,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417436.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNOT6",
"gene_hgnc_id": 14099,
"hgvs_c": "c.5C>T",
"hgvs_p": "p.Pro2Leu",
"transcript": "XM_047417437.1",
"protein_id": "XP_047273393.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 552,
"cds_start": 5,
"cds_end": null,
"cds_length": 1659,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417437.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNOT6",
"gene_hgnc_id": 14099,
"hgvs_c": "c.5C>T",
"hgvs_p": "p.Pro2Leu",
"transcript": "XM_047417438.1",
"protein_id": "XP_047273394.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 552,
"cds_start": 5,
"cds_end": null,
"cds_length": 1659,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417438.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNOT6",
"gene_hgnc_id": 14099,
"hgvs_c": "c.5C>T",
"hgvs_p": "p.Pro2Leu",
"transcript": "XM_017009672.2",
"protein_id": "XP_016865161.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 428,
"cds_start": 5,
"cds_end": null,
"cds_length": 1287,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017009672.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNOT6",
"gene_hgnc_id": 14099,
"hgvs_c": "c.5C>T",
"hgvs_p": "p.Pro2Leu",
"transcript": "XM_047417440.1",
"protein_id": "XP_047273396.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 428,
"cds_start": 5,
"cds_end": null,
"cds_length": 1287,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417440.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNOT6",
"gene_hgnc_id": 14099,
"hgvs_c": "c.5C>T",
"hgvs_p": "p.Pro2Leu",
"transcript": "XM_047417439.1",
"protein_id": "XP_047273395.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 423,
"cds_start": 5,
"cds_end": null,
"cds_length": 1272,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417439.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNOT6",
"gene_hgnc_id": 14099,
"hgvs_c": "c.5C>T",
"hgvs_p": "p.Pro2Leu",
"transcript": "XM_047417442.1",
"protein_id": "XP_047273398.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 301,
"cds_start": 5,
"cds_end": null,
"cds_length": 906,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417442.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNOT6",
"gene_hgnc_id": 14099,
"hgvs_c": "n.64C>T",
"hgvs_p": null,
"transcript": "ENST00000502447.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000502447.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNOT6",
"gene_hgnc_id": 14099,
"hgvs_c": "n.496C>T",
"hgvs_p": null,
"transcript": "NR_163437.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_163437.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNOT6",
"gene_hgnc_id": 14099,
"hgvs_c": "n.392C>T",
"hgvs_p": null,
"transcript": "NR_163438.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_163438.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CNOT6",
"gene_hgnc_id": 14099,
"hgvs_c": "n.318-20650C>T",
"hgvs_p": null,
"transcript": "ENST00000507016.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000507016.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNOT6",
"gene_hgnc_id": 14099,
"hgvs_c": "c.-307C>T",
"hgvs_p": null,
"transcript": "XM_017009671.3",
"protein_id": "XP_016865160.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 462,
"cds_start": null,
"cds_end": null,
"cds_length": 1389,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017009671.3"
}
],
"gene_symbol": "CNOT6",
"gene_hgnc_id": 14099,
"dbsnp": "rs772817399",
"frequency_reference_population": 0.00001002122,
"hom_count_reference_population": 0,
"allele_count_reference_population": 16,
"gnomad_exomes_af": 0.00000968929,
"gnomad_genomes_af": 0.0000131824,
"gnomad_exomes_ac": 14,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6317628622055054,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.273,
"revel_prediction": "Benign",
"alphamissense_score": 0.4319,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.09,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 6.822,
"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": 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_001370472.1",
"gene_symbol": "CNOT6",
"hgnc_id": 14099,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.5C>T",
"hgvs_p": "p.Pro2Leu"
}
],
"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
}