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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: 4-77048403-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=77048403&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 77048403,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_006835.3",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCNI",
"gene_hgnc_id": 1595,
"hgvs_c": "c.950A>G",
"hgvs_p": "p.Lys317Arg",
"transcript": "NM_006835.3",
"protein_id": "NP_006826.1",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 377,
"cds_start": 950,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 1511,
"cdna_end": null,
"cdna_length": 2759,
"mane_select": "ENST00000237654.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCNI",
"gene_hgnc_id": 1595,
"hgvs_c": "c.950A>G",
"hgvs_p": "p.Lys317Arg",
"transcript": "ENST00000237654.9",
"protein_id": "ENSP00000237654.4",
"transcript_support_level": 1,
"aa_start": 317,
"aa_end": null,
"aa_length": 377,
"cds_start": 950,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 1511,
"cdna_end": null,
"cdna_length": 2759,
"mane_select": "NM_006835.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCNI",
"gene_hgnc_id": 1595,
"hgvs_c": "c.950A>G",
"hgvs_p": "p.Lys317Arg",
"transcript": "NM_001348132.2",
"protein_id": "NP_001335061.1",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 377,
"cds_start": 950,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 1507,
"cdna_end": null,
"cdna_length": 2755,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCNI",
"gene_hgnc_id": 1595,
"hgvs_c": "c.950A>G",
"hgvs_p": "p.Lys317Arg",
"transcript": "NM_001348133.2",
"protein_id": "NP_001335062.1",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 377,
"cds_start": 950,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 1114,
"cdna_end": null,
"cdna_length": 2362,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCNI",
"gene_hgnc_id": 1595,
"hgvs_c": "c.950A>G",
"hgvs_p": "p.Lys317Arg",
"transcript": "ENST00000718433.1",
"protein_id": "ENSP00000520818.1",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 377,
"cds_start": 950,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 1507,
"cdna_end": null,
"cdna_length": 2755,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCNI",
"gene_hgnc_id": 1595,
"hgvs_c": "c.908A>G",
"hgvs_p": "p.Lys303Arg",
"transcript": "NM_001348134.2",
"protein_id": "NP_001335063.1",
"transcript_support_level": null,
"aa_start": 303,
"aa_end": null,
"aa_length": 363,
"cds_start": 908,
"cds_end": null,
"cds_length": 1092,
"cdna_start": 1354,
"cdna_end": null,
"cdna_length": 2602,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCNI",
"gene_hgnc_id": 1595,
"hgvs_c": "c.908A>G",
"hgvs_p": "p.Lys303Arg",
"transcript": "ENST00000507788.3",
"protein_id": "ENSP00000421594.2",
"transcript_support_level": 4,
"aa_start": 303,
"aa_end": null,
"aa_length": 363,
"cds_start": 908,
"cds_end": null,
"cds_length": 1092,
"cdna_start": 1674,
"cdna_end": null,
"cdna_length": 2922,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCNI",
"gene_hgnc_id": 1595,
"hgvs_c": "c.827A>G",
"hgvs_p": "p.Lys276Arg",
"transcript": "NM_001348135.2",
"protein_id": "NP_001335064.1",
"transcript_support_level": null,
"aa_start": 276,
"aa_end": null,
"aa_length": 336,
"cds_start": 827,
"cds_end": null,
"cds_length": 1011,
"cdna_start": 1388,
"cdna_end": null,
"cdna_length": 2636,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCNI",
"gene_hgnc_id": 1595,
"hgvs_c": "c.821A>G",
"hgvs_p": "p.Lys274Arg",
"transcript": "NM_001348136.2",
"protein_id": "NP_001335065.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 334,
"cds_start": 821,
"cds_end": null,
"cds_length": 1005,
"cdna_start": 1382,
"cdna_end": null,
"cdna_length": 2630,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCNI",
"gene_hgnc_id": 1595,
"hgvs_c": "c.734A>G",
"hgvs_p": "p.Lys245Arg",
"transcript": "NM_001348137.2",
"protein_id": "NP_001335066.1",
"transcript_support_level": null,
"aa_start": 245,
"aa_end": null,
"aa_length": 305,
"cds_start": 734,
"cds_end": null,
"cds_length": 918,
"cdna_start": 1295,
"cdna_end": null,
"cdna_length": 2543,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCNI",
"gene_hgnc_id": 1595,
"hgvs_c": "c.635A>G",
"hgvs_p": "p.Lys212Arg",
"transcript": "NM_001348138.2",
"protein_id": "NP_001335067.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 272,
"cds_start": 635,
"cds_end": null,
"cds_length": 819,
"cdna_start": 1509,
"cdna_end": null,
"cdna_length": 2757,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCNI",
"gene_hgnc_id": 1595,
"hgvs_c": "c.605A>G",
"hgvs_p": "p.Lys202Arg",
"transcript": "NM_001348139.2",
"protein_id": "NP_001335068.1",
"transcript_support_level": null,
"aa_start": 202,
"aa_end": null,
"aa_length": 262,
"cds_start": 605,
"cds_end": null,
"cds_length": 789,
"cdna_start": 1166,
"cdna_end": null,
"cdna_length": 2414,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCNI",
"gene_hgnc_id": 1595,
"hgvs_c": "c.347A>G",
"hgvs_p": "p.Lys116Arg",
"transcript": "ENST00000515468.1",
"protein_id": "ENSP00000425935.1",
"transcript_support_level": 3,
"aa_start": 116,
"aa_end": null,
"aa_length": 176,
"cds_start": 347,
"cds_end": null,
"cds_length": 531,
"cdna_start": 348,
"cdna_end": null,
"cdna_length": 636,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCNI",
"gene_hgnc_id": 1595,
"hgvs_c": "c.*241A>G",
"hgvs_p": null,
"transcript": "NM_001348140.2",
"protein_id": "NP_001335069.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 209,
"cds_start": -4,
"cds_end": null,
"cds_length": 630,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2680,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CCNI",
"gene_hgnc_id": 1595,
"dbsnp": "rs141114911",
"frequency_reference_population": 0.00003903331,
"hom_count_reference_population": 0,
"allele_count_reference_population": 63,
"gnomad_exomes_af": 0.0000376226,
"gnomad_genomes_af": 0.0000525901,
"gnomad_exomes_ac": 55,
"gnomad_genomes_ac": 8,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.08366790413856506,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.06,
"revel_prediction": "Benign",
"alphamissense_score": 0.0718,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.5,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.41,
"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": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_006835.3",
"gene_symbol": "CCNI",
"hgnc_id": 1595,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.950A>G",
"hgvs_p": "p.Lys317Arg"
}
],
"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
}