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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: 16-69339368-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=69339368&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 69339368,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001379261.1",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COG8",
"gene_hgnc_id": 18623,
"hgvs_c": "c.185G>C",
"hgvs_p": "p.Arg62Pro",
"transcript": "NM_032382.5",
"protein_id": "NP_115758.3",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 612,
"cds_start": 185,
"cds_end": null,
"cds_length": 1839,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000306875.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_032382.5"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COG8",
"gene_hgnc_id": 18623,
"hgvs_c": "c.185G>C",
"hgvs_p": "p.Arg62Pro",
"transcript": "ENST00000306875.10",
"protein_id": "ENSP00000305459.6",
"transcript_support_level": 1,
"aa_start": 62,
"aa_end": null,
"aa_length": 612,
"cds_start": 185,
"cds_end": null,
"cds_length": 1839,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_032382.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000306875.10"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000260371",
"gene_hgnc_id": null,
"hgvs_c": "c.3-2656G>C",
"hgvs_p": null,
"transcript": "ENST00000563634.1",
"protein_id": "ENSP00000454500.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 155,
"cds_start": null,
"cds_end": null,
"cds_length": 468,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000563634.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ENSG00000259900",
"gene_hgnc_id": null,
"hgvs_c": "n.466-2656G>C",
"hgvs_p": null,
"transcript": "ENST00000564737.1",
"protein_id": "ENSP00000462747.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000564737.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COG8",
"gene_hgnc_id": 18623,
"hgvs_c": "c.185G>C",
"hgvs_p": "p.Arg62Pro",
"transcript": "NM_001379261.1",
"protein_id": "NP_001366190.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 659,
"cds_start": 185,
"cds_end": null,
"cds_length": 1980,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001379261.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COG8",
"gene_hgnc_id": 18623,
"hgvs_c": "c.185G>C",
"hgvs_p": "p.Arg62Pro",
"transcript": "NM_001379262.1",
"protein_id": "NP_001366191.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 638,
"cds_start": 185,
"cds_end": null,
"cds_length": 1917,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001379262.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COG8",
"gene_hgnc_id": 18623,
"hgvs_c": "c.185G>C",
"hgvs_p": "p.Arg62Pro",
"transcript": "NM_001379263.1",
"protein_id": "NP_001366192.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 625,
"cds_start": 185,
"cds_end": null,
"cds_length": 1878,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001379263.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COG8",
"gene_hgnc_id": 18623,
"hgvs_c": "c.185G>C",
"hgvs_p": "p.Arg62Pro",
"transcript": "NM_001379264.1",
"protein_id": "NP_001366193.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 612,
"cds_start": 185,
"cds_end": null,
"cds_length": 1839,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001379264.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COG8",
"gene_hgnc_id": 18623,
"hgvs_c": "c.185G>C",
"hgvs_p": "p.Arg62Pro",
"transcript": "NM_001379265.1",
"protein_id": "NP_001366194.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 579,
"cds_start": 185,
"cds_end": null,
"cds_length": 1740,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001379265.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COG8",
"gene_hgnc_id": 18623,
"hgvs_c": "c.185G>C",
"hgvs_p": "p.Arg62Pro",
"transcript": "NM_001374871.1",
"protein_id": "NP_001361800.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 534,
"cds_start": 185,
"cds_end": null,
"cds_length": 1605,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001374871.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COG8",
"gene_hgnc_id": 18623,
"hgvs_c": "c.185G>C",
"hgvs_p": "p.Arg62Pro",
"transcript": "ENST00000562081.2",
"protein_id": "ENSP00000455954.1",
"transcript_support_level": 5,
"aa_start": 62,
"aa_end": null,
"aa_length": 534,
"cds_start": 185,
"cds_end": null,
"cds_length": 1605,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000562081.2"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COG8",
"gene_hgnc_id": 18623,
"hgvs_c": "c.185G>C",
"hgvs_p": "p.Arg62Pro",
"transcript": "NM_001379266.1",
"protein_id": "NP_001366195.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 518,
"cds_start": 185,
"cds_end": null,
"cds_length": 1557,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001379266.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COG8",
"gene_hgnc_id": 18623,
"hgvs_c": "c.125G>C",
"hgvs_p": "p.Arg42Pro",
"transcript": "ENST00000562595.5",
"protein_id": "ENSP00000456705.1",
"transcript_support_level": 5,
"aa_start": 42,
"aa_end": null,
"aa_length": 222,
"cds_start": 125,
"cds_end": null,
"cds_length": 669,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000562595.5"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COG8",
"gene_hgnc_id": 18623,
"hgvs_c": "c.137G>C",
"hgvs_p": "p.Arg46Pro",
"transcript": "ENST00000615447.1",
"protein_id": "ENSP00000484442.1",
"transcript_support_level": 6,
"aa_start": 46,
"aa_end": null,
"aa_length": 120,
"cds_start": 137,
"cds_end": null,
"cds_length": 363,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000615447.1"
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIP7",
"gene_hgnc_id": 24328,
"hgvs_c": "n.1373C>G",
"hgvs_p": null,
"transcript": "ENST00000563364.3",
"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": "ENST00000563364.3"
},
{
"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": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000259900",
"gene_hgnc_id": null,
"hgvs_c": "n.317-2656G>C",
"hgvs_p": null,
"transcript": "ENST00000570293.5",
"protein_id": "ENSP00000464417.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000570293.5"
},
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIP7",
"gene_hgnc_id": 24328,
"hgvs_c": "c.-462C>G",
"hgvs_p": null,
"transcript": "ENST00000569637.6",
"protein_id": "ENSP00000463739.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 110,
"cds_start": null,
"cds_end": null,
"cds_length": 333,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000569637.6"
}
],
"gene_symbol": "COG8",
"gene_hgnc_id": 18623,
"dbsnp": "rs1297158508",
"frequency_reference_population": 0.0000021011551,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 0.00000210116,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.3365333378314972,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.142,
"revel_prediction": "Benign",
"alphamissense_score": 0.7705,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.27,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.417,
"phylop100way_prediction": "Benign",
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001379261.1",
"gene_symbol": "COG8",
"hgnc_id": 18623,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.185G>C",
"hgvs_p": "p.Arg62Pro"
},
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000563634.1",
"gene_symbol": "ENSG00000260371",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.3-2656G>C",
"hgvs_p": null
},
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000564737.1",
"gene_symbol": "ENSG00000259900",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.466-2656G>C",
"hgvs_p": null
},
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000563364.3",
"gene_symbol": "NIP7",
"hgnc_id": 24328,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.1373C>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
}