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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: 7-90412863-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=90412863&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 90412863,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001185072.3",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLDN12",
"gene_hgnc_id": 2034,
"hgvs_c": "c.187G>A",
"hgvs_p": "p.Gly63Arg",
"transcript": "NM_001185072.3",
"protein_id": "NP_001172001.1",
"transcript_support_level": null,
"aa_start": 63,
"aa_end": null,
"aa_length": 244,
"cds_start": 187,
"cds_end": null,
"cds_length": 735,
"cdna_start": 442,
"cdna_end": null,
"cdna_length": 3533,
"mane_select": "ENST00000496677.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLDN12",
"gene_hgnc_id": 2034,
"hgvs_c": "c.187G>A",
"hgvs_p": "p.Gly63Arg",
"transcript": "ENST00000496677.6",
"protein_id": "ENSP00000419053.1",
"transcript_support_level": 1,
"aa_start": 63,
"aa_end": null,
"aa_length": 244,
"cds_start": 187,
"cds_end": null,
"cds_length": 735,
"cdna_start": 442,
"cdna_end": null,
"cdna_length": 3533,
"mane_select": "NM_001185072.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLDN12",
"gene_hgnc_id": 2034,
"hgvs_c": "c.187G>A",
"hgvs_p": "p.Gly63Arg",
"transcript": "ENST00000287916.8",
"protein_id": "ENSP00000287916.4",
"transcript_support_level": 1,
"aa_start": 63,
"aa_end": null,
"aa_length": 244,
"cds_start": 187,
"cds_end": null,
"cds_length": 735,
"cdna_start": 474,
"cdna_end": null,
"cdna_length": 3565,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLDN12",
"gene_hgnc_id": 2034,
"hgvs_c": "c.187G>A",
"hgvs_p": "p.Gly63Arg",
"transcript": "NM_001185073.3",
"protein_id": "NP_001172002.1",
"transcript_support_level": null,
"aa_start": 63,
"aa_end": null,
"aa_length": 244,
"cds_start": 187,
"cds_end": null,
"cds_length": 735,
"cdna_start": 403,
"cdna_end": null,
"cdna_length": 3494,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLDN12",
"gene_hgnc_id": 2034,
"hgvs_c": "c.187G>A",
"hgvs_p": "p.Gly63Arg",
"transcript": "NM_012129.5",
"protein_id": "NP_036261.1",
"transcript_support_level": null,
"aa_start": 63,
"aa_end": null,
"aa_length": 244,
"cds_start": 187,
"cds_end": null,
"cds_length": 735,
"cdna_start": 399,
"cdna_end": null,
"cdna_length": 3490,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLDN12",
"gene_hgnc_id": 2034,
"hgvs_c": "c.187G>A",
"hgvs_p": "p.Gly63Arg",
"transcript": "ENST00000394605.2",
"protein_id": "ENSP00000378103.1",
"transcript_support_level": 2,
"aa_start": 63,
"aa_end": null,
"aa_length": 244,
"cds_start": 187,
"cds_end": null,
"cds_length": 735,
"cdna_start": 397,
"cdna_end": null,
"cdna_length": 3488,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLDN12",
"gene_hgnc_id": 2034,
"hgvs_c": "c.187G>A",
"hgvs_p": "p.Gly63Arg",
"transcript": "ENST00000394604.5",
"protein_id": "ENSP00000378102.1",
"transcript_support_level": 5,
"aa_start": 63,
"aa_end": null,
"aa_length": 186,
"cds_start": 187,
"cds_end": null,
"cds_length": 562,
"cdna_start": 471,
"cdna_end": null,
"cdna_length": 846,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLDN12",
"gene_hgnc_id": 2034,
"hgvs_c": "c.187G>A",
"hgvs_p": "p.Gly63Arg",
"transcript": "ENST00000416322.5",
"protein_id": "ENSP00000411399.1",
"transcript_support_level": 5,
"aa_start": 63,
"aa_end": null,
"aa_length": 174,
"cds_start": 187,
"cds_end": null,
"cds_length": 527,
"cdna_start": 823,
"cdna_end": null,
"cdna_length": 1163,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLDN12",
"gene_hgnc_id": 2034,
"hgvs_c": "c.187G>A",
"hgvs_p": "p.Gly63Arg",
"transcript": "ENST00000427904.1",
"protein_id": "ENSP00000391062.1",
"transcript_support_level": 3,
"aa_start": 63,
"aa_end": null,
"aa_length": 125,
"cds_start": 187,
"cds_end": null,
"cds_length": 379,
"cdna_start": 426,
"cdna_end": null,
"cdna_length": 618,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CLDN12",
"gene_hgnc_id": 2034,
"hgvs_c": "n.32+7251G>A",
"hgvs_p": null,
"transcript": "ENST00000451941.6",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 527,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000273299",
"gene_hgnc_id": null,
"hgvs_c": "n.210+7251G>A",
"hgvs_p": null,
"transcript": "ENST00000480135.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 371,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CLDN12",
"gene_hgnc_id": 2034,
"hgvs_c": "n.121+7255G>A",
"hgvs_p": null,
"transcript": "ENST00000483862.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 338,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CLDN12",
"gene_hgnc_id": 2034,
"hgvs_c": "n.156+7255G>A",
"hgvs_p": null,
"transcript": "ENST00000498033.5",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 420,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000309151",
"gene_hgnc_id": null,
"hgvs_c": "n.145+5584C>T",
"hgvs_p": null,
"transcript": "ENST00000839054.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 613,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CLDN12",
"gene_hgnc_id": 2034,
"dbsnp": "rs200164858",
"frequency_reference_population": 0.000026639013,
"hom_count_reference_population": 0,
"allele_count_reference_population": 43,
"gnomad_exomes_af": 0.0000239418,
"gnomad_genomes_af": 0.00005253,
"gnomad_exomes_ac": 35,
"gnomad_genomes_ac": 8,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.32956212759017944,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.255,
"revel_prediction": "Benign",
"alphamissense_score": 0.1382,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.17,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 6.07,
"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": 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_001185072.3",
"gene_symbol": "CLDN12",
"hgnc_id": 2034,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.187G>A",
"hgvs_p": "p.Gly63Arg"
},
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000480135.1",
"gene_symbol": "ENSG00000273299",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.210+7251G>A",
"hgvs_p": null
},
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000839054.1",
"gene_symbol": "ENSG00000309151",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.145+5584C>T",
"hgvs_p": null
}
],
"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
}