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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: 6-154406574-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=154406574&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "CNKSR3",
"hgnc_id": 23034,
"hgvs_c": "c.1466G>A",
"hgvs_p": "p.Arg489Gln",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_001368116.1",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000288520",
"hgnc_id": null,
"hgvs_c": "c.1369+3769G>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 2,
"transcript": "ENST00000673182.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_score": 2,
"allele_count_reference_population": 5,
"alphamissense_prediction": null,
"alphamissense_score": 0.0749,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.5,
"chr": "6",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.16741067171096802,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 555,
"aa_ref": "R",
"aa_start": 483,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 21078,
"cdna_start": 2019,
"cds_end": null,
"cds_length": 1668,
"cds_start": 1448,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_173515.4",
"gene_hgnc_id": 23034,
"gene_symbol": "CNKSR3",
"hgvs_c": "c.1448G>A",
"hgvs_p": "p.Arg483Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000607772.6",
"protein_coding": true,
"protein_id": "NP_775786.2",
"strand": false,
"transcript": "NM_173515.4",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 555,
"aa_ref": "R",
"aa_start": 483,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 21078,
"cdna_start": 2019,
"cds_end": null,
"cds_length": 1668,
"cds_start": 1448,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000607772.6",
"gene_hgnc_id": 23034,
"gene_symbol": "CNKSR3",
"hgvs_c": "c.1448G>A",
"hgvs_p": "p.Arg483Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_173515.4",
"protein_coding": true,
"protein_id": "ENSP00000475915.1",
"strand": false,
"transcript": "ENST00000607772.6",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 475,
"aa_ref": "R",
"aa_start": 403,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2023,
"cdna_start": 1559,
"cds_end": null,
"cds_length": 1428,
"cds_start": 1208,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000479339.5",
"gene_hgnc_id": 23034,
"gene_symbol": "CNKSR3",
"hgvs_c": "c.1208G>A",
"hgvs_p": "p.Arg403Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000418975.1",
"strand": false,
"transcript": "ENST00000479339.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 899,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2700,
"cdna_start": null,
"cds_end": null,
"cds_length": 2700,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000673182.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000288520",
"hgvs_c": "c.1369+3769G>A",
"hgvs_p": null,
"intron_rank": 12,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000499846.1",
"strand": false,
"transcript": "ENST00000673182.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 2347,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000433165.6",
"gene_hgnc_id": 23034,
"gene_symbol": "CNKSR3",
"hgvs_c": "n.1236G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000433165.6",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 561,
"aa_ref": "R",
"aa_start": 489,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3049,
"cdna_start": 1774,
"cds_end": null,
"cds_length": 1686,
"cds_start": 1466,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001368116.1",
"gene_hgnc_id": 23034,
"gene_symbol": "CNKSR3",
"hgvs_c": "c.1466G>A",
"hgvs_p": "p.Arg489Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001355045.1",
"strand": false,
"transcript": "NM_001368116.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 554,
"aa_ref": "R",
"aa_start": 482,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3257,
"cdna_start": 1983,
"cds_end": null,
"cds_length": 1665,
"cds_start": 1445,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000950871.1",
"gene_hgnc_id": 23034,
"gene_symbol": "CNKSR3",
"hgvs_c": "c.1445G>A",
"hgvs_p": "p.Arg482Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000620930.1",
"strand": false,
"transcript": "ENST00000950871.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 551,
"aa_ref": "R",
"aa_start": 479,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3136,
"cdna_start": 1863,
"cds_end": null,
"cds_length": 1656,
"cds_start": 1436,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000904027.1",
"gene_hgnc_id": 23034,
"gene_symbol": "CNKSR3",
"hgvs_c": "c.1436G>A",
"hgvs_p": "p.Arg479Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000574086.1",
"strand": false,
"transcript": "ENST00000904027.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 541,
"aa_ref": "R",
"aa_start": 469,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3219,
"cdna_start": 1945,
"cds_end": null,
"cds_length": 1626,
"cds_start": 1406,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000904025.1",
"gene_hgnc_id": 23034,
"gene_symbol": "CNKSR3",
"hgvs_c": "c.1406G>A",
"hgvs_p": "p.Arg469Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000574084.1",
"strand": false,
"transcript": "ENST00000904025.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 531,
"aa_ref": "R",
"aa_start": 459,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3121,
"cdna_start": 1848,
"cds_end": null,
"cds_length": 1596,
"cds_start": 1376,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000904026.1",
"gene_hgnc_id": 23034,
"gene_symbol": "CNKSR3",
"hgvs_c": "c.1376G>A",
"hgvs_p": "p.Arg459Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000574085.1",
"strand": false,
"transcript": "ENST00000904026.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 475,
"aa_ref": "R",
"aa_start": 403,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2834,
"cdna_start": 1559,
"cds_end": null,
"cds_length": 1428,
"cds_start": 1208,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001368118.1",
"gene_hgnc_id": 23034,
"gene_symbol": "CNKSR3",
"hgvs_c": "c.1208G>A",
"hgvs_p": "p.Arg403Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001355047.1",
"strand": false,
"transcript": "NM_001368118.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 380,
"aa_ref": "R",
"aa_start": 308,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2511,
"cdna_start": 1236,
"cds_end": null,
"cds_length": 1143,
"cds_start": 923,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001368119.1",
"gene_hgnc_id": 23034,
"gene_symbol": "CNKSR3",
"hgvs_c": "c.923G>A",
"hgvs_p": "p.Arg308Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001355048.1",
"strand": false,
"transcript": "NM_001368119.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 523,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3206,
"cdna_start": null,
"cds_end": null,
"cds_length": 1572,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001368117.1",
"gene_hgnc_id": 23034,
"gene_symbol": "CNKSR3",
"hgvs_c": "c.1370-10G>A",
"hgvs_p": null,
"intron_rank": 12,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001355046.1",
"strand": false,
"transcript": "NM_001368117.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs925966534",
"effect": "missense_variant",
"frequency_reference_population": 0.0000030977246,
"gene_hgnc_id": 23034,
"gene_symbol": "CNKSR3",
"gnomad_exomes_ac": 4,
"gnomad_exomes_af": 0.00000273619,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 1,
"gnomad_genomes_af": 0.00000657022,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Benign",
"phylop100way_score": 1.696,
"pos": 154406574,
"ref": "C",
"revel_prediction": "Benign",
"revel_score": 0.069,
"splice_prediction_selected": "Uncertain_significance",
"splice_score_selected": 0.2199999988079071,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Uncertain_significance",
"spliceai_max_score": 0.22,
"transcript": "NM_001368116.1"
}
]
}