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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: 14-64779905-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=64779905&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 64779905,
"ref": "T",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "ENST00000644917.1",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTB",
"gene_hgnc_id": 11274,
"hgvs_c": "c.4293A>G",
"hgvs_p": "p.Arg1431Arg",
"transcript": "NM_001355436.2",
"protein_id": "NP_001342365.1",
"transcript_support_level": null,
"aa_start": 1431,
"aa_end": null,
"aa_length": 2328,
"cds_start": 4293,
"cds_end": null,
"cds_length": 6987,
"cdna_start": 4460,
"cdna_end": null,
"cdna_length": 10177,
"mane_select": "ENST00000644917.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTB",
"gene_hgnc_id": 11274,
"hgvs_c": "c.4293A>G",
"hgvs_p": "p.Arg1431Arg",
"transcript": "ENST00000644917.1",
"protein_id": "ENSP00000495909.1",
"transcript_support_level": null,
"aa_start": 1431,
"aa_end": null,
"aa_length": 2328,
"cds_start": 4293,
"cds_end": null,
"cds_length": 6987,
"cdna_start": 4460,
"cdna_end": null,
"cdna_length": 10177,
"mane_select": "NM_001355436.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTB",
"gene_hgnc_id": 11274,
"hgvs_c": "c.288A>G",
"hgvs_p": "p.Arg96Arg",
"transcript": "ENST00000553938.5",
"protein_id": "ENSP00000451324.1",
"transcript_support_level": 1,
"aa_start": 96,
"aa_end": null,
"aa_length": 1028,
"cds_start": 288,
"cds_end": null,
"cds_length": 3087,
"cdna_start": 288,
"cdna_end": null,
"cdna_length": 3456,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTB",
"gene_hgnc_id": 11274,
"hgvs_c": "c.4293A>G",
"hgvs_p": "p.Arg1431Arg",
"transcript": "NM_001024858.4",
"protein_id": "NP_001020029.1",
"transcript_support_level": null,
"aa_start": 1431,
"aa_end": null,
"aa_length": 2328,
"cds_start": 4293,
"cds_end": null,
"cds_length": 6987,
"cdna_start": 4579,
"cdna_end": null,
"cdna_length": 10296,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTB",
"gene_hgnc_id": 11274,
"hgvs_c": "c.4293A>G",
"hgvs_p": "p.Arg1431Arg",
"transcript": "ENST00000389722.7",
"protein_id": "ENSP00000374372.3",
"transcript_support_level": 2,
"aa_start": 1431,
"aa_end": null,
"aa_length": 2328,
"cds_start": 4293,
"cds_end": null,
"cds_length": 6987,
"cdna_start": 4347,
"cdna_end": null,
"cdna_length": 10063,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTB",
"gene_hgnc_id": 11274,
"hgvs_c": "c.4293A>G",
"hgvs_p": "p.Arg1431Arg",
"transcript": "NM_001355437.2",
"protein_id": "NP_001342366.1",
"transcript_support_level": null,
"aa_start": 1431,
"aa_end": null,
"aa_length": 2137,
"cds_start": 4293,
"cds_end": null,
"cds_length": 6414,
"cdna_start": 4460,
"cdna_end": null,
"cdna_length": 6839,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTB",
"gene_hgnc_id": 11274,
"hgvs_c": "c.4293A>G",
"hgvs_p": "p.Arg1431Arg",
"transcript": "ENST00000389720.4",
"protein_id": "ENSP00000374370.4",
"transcript_support_level": 5,
"aa_start": 1431,
"aa_end": null,
"aa_length": 2137,
"cds_start": 4293,
"cds_end": null,
"cds_length": 6414,
"cdna_start": 4460,
"cdna_end": null,
"cdna_length": 6839,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTB",
"gene_hgnc_id": 11274,
"hgvs_c": "c.4293A>G",
"hgvs_p": "p.Arg1431Arg",
"transcript": "XM_017021612.3",
"protein_id": "XP_016877101.1",
"transcript_support_level": null,
"aa_start": 1431,
"aa_end": null,
"aa_length": 2328,
"cds_start": 4293,
"cds_end": null,
"cds_length": 6987,
"cdna_start": 4577,
"cdna_end": null,
"cdna_length": 10294,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTB",
"gene_hgnc_id": 11274,
"hgvs_c": "c.4293A>G",
"hgvs_p": "p.Arg1431Arg",
"transcript": "XM_024449699.2",
"protein_id": "XP_024305467.1",
"transcript_support_level": null,
"aa_start": 1431,
"aa_end": null,
"aa_length": 2328,
"cds_start": 4293,
"cds_end": null,
"cds_length": 6987,
"cdna_start": 4701,
"cdna_end": null,
"cdna_length": 10418,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTB",
"gene_hgnc_id": 11274,
"hgvs_c": "c.4293A>G",
"hgvs_p": "p.Arg1431Arg",
"transcript": "XM_047431724.1",
"protein_id": "XP_047287680.1",
"transcript_support_level": null,
"aa_start": 1431,
"aa_end": null,
"aa_length": 2328,
"cds_start": 4293,
"cds_end": null,
"cds_length": 6987,
"cdna_start": 4629,
"cdna_end": null,
"cdna_length": 10346,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTB",
"gene_hgnc_id": 11274,
"hgvs_c": "c.4293A>G",
"hgvs_p": "p.Arg1431Arg",
"transcript": "XM_047431725.1",
"protein_id": "XP_047287681.1",
"transcript_support_level": null,
"aa_start": 1431,
"aa_end": null,
"aa_length": 2328,
"cds_start": 4293,
"cds_end": null,
"cds_length": 6987,
"cdna_start": 5547,
"cdna_end": null,
"cdna_length": 11264,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTB",
"gene_hgnc_id": 11274,
"hgvs_c": "c.4293A>G",
"hgvs_p": "p.Arg1431Arg",
"transcript": "XM_011537105.4",
"protein_id": "XP_011535407.1",
"transcript_support_level": null,
"aa_start": 1431,
"aa_end": null,
"aa_length": 1554,
"cds_start": 4293,
"cds_end": null,
"cds_length": 4665,
"cdna_start": 4460,
"cdna_end": null,
"cdna_length": 5063,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SPTB",
"gene_hgnc_id": 11274,
"dbsnp": "rs1626923",
"frequency_reference_population": 0.3368808,
"hom_count_reference_population": 96736,
"allele_count_reference_population": 543479,
"gnomad_exomes_af": 0.330096,
"gnomad_genomes_af": 0.402124,
"gnomad_exomes_ac": 482373,
"gnomad_genomes_ac": 61106,
"gnomad_exomes_homalt": 82794,
"gnomad_genomes_homalt": 13942,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.550000011920929,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.55,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.308,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": -21,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BA1",
"acmg_by_gene": [
{
"score": -21,
"benign_score": 21,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000644917.1",
"gene_symbol": "SPTB",
"hgnc_id": 11274,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.4293A>G",
"hgvs_p": "p.Arg1431Arg"
}
],
"clinvar_disease": " Dominant,Elliptocytosis,Hereditary spherocytosis type 2,Spherocytosis,not provided,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:3 B:5",
"phenotype_combined": "not specified|Elliptocytosis|Spherocytosis, Dominant|not provided|Hereditary spherocytosis type 2",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}