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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: 14-64767300-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=64767300&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 64767300,
"ref": "C",
"alt": "A",
"effect": "splice_region_variant,intron_variant",
"transcript": "ENST00000644917.1",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": 31,
"intron_rank_end": null,
"gene_symbol": "SPTB",
"gene_hgnc_id": 11274,
"hgvs_c": "c.6269+3G>T",
"hgvs_p": null,
"transcript": "NM_001355436.2",
"protein_id": "NP_001342365.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2328,
"cds_start": -4,
"cds_end": null,
"cds_length": 6987,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10177,
"mane_select": "ENST00000644917.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": 31,
"intron_rank_end": null,
"gene_symbol": "SPTB",
"gene_hgnc_id": 11274,
"hgvs_c": "c.6269+3G>T",
"hgvs_p": null,
"transcript": "ENST00000644917.1",
"protein_id": "ENSP00000495909.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2328,
"cds_start": -4,
"cds_end": null,
"cds_length": 6987,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10177,
"mane_select": "NM_001355436.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "SPTB",
"gene_hgnc_id": 11274,
"hgvs_c": "c.2264+3G>T",
"hgvs_p": null,
"transcript": "ENST00000553938.5",
"protein_id": "ENSP00000451324.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1028,
"cds_start": -4,
"cds_end": null,
"cds_length": 3087,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3456,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": 30,
"intron_rank_end": null,
"gene_symbol": "SPTB",
"gene_hgnc_id": 11274,
"hgvs_c": "c.6269+3G>T",
"hgvs_p": null,
"transcript": "NM_001024858.4",
"protein_id": "NP_001020029.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2328,
"cds_start": -4,
"cds_end": null,
"cds_length": 6987,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10296,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": 30,
"intron_rank_end": null,
"gene_symbol": "SPTB",
"gene_hgnc_id": 11274,
"hgvs_c": "c.6269+3G>T",
"hgvs_p": null,
"transcript": "ENST00000389722.7",
"protein_id": "ENSP00000374372.3",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 2328,
"cds_start": -4,
"cds_end": null,
"cds_length": 6987,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10063,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": 31,
"intron_rank_end": null,
"gene_symbol": "SPTB",
"gene_hgnc_id": 11274,
"hgvs_c": "c.6269+3G>T",
"hgvs_p": null,
"transcript": "NM_001355437.2",
"protein_id": "NP_001342366.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2137,
"cds_start": -4,
"cds_end": null,
"cds_length": 6414,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6839,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": 31,
"intron_rank_end": null,
"gene_symbol": "SPTB",
"gene_hgnc_id": 11274,
"hgvs_c": "c.6269+3G>T",
"hgvs_p": null,
"transcript": "ENST00000389720.4",
"protein_id": "ENSP00000374370.4",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 2137,
"cds_start": -4,
"cds_end": null,
"cds_length": 6414,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6839,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": 32,
"intron_rank_end": null,
"gene_symbol": "SPTB",
"gene_hgnc_id": 11274,
"hgvs_c": "c.6269+3G>T",
"hgvs_p": null,
"transcript": "XM_017021612.3",
"protein_id": "XP_016877101.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2328,
"cds_start": -4,
"cds_end": null,
"cds_length": 6987,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10294,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": 31,
"intron_rank_end": null,
"gene_symbol": "SPTB",
"gene_hgnc_id": 11274,
"hgvs_c": "c.6269+3G>T",
"hgvs_p": null,
"transcript": "XM_024449699.2",
"protein_id": "XP_024305467.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2328,
"cds_start": -4,
"cds_end": null,
"cds_length": 6987,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10418,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": 32,
"intron_rank_end": null,
"gene_symbol": "SPTB",
"gene_hgnc_id": 11274,
"hgvs_c": "c.6269+3G>T",
"hgvs_p": null,
"transcript": "XM_047431724.1",
"protein_id": "XP_047287680.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2328,
"cds_start": -4,
"cds_end": null,
"cds_length": 6987,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10346,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": 31,
"intron_rank_end": null,
"gene_symbol": "SPTB",
"gene_hgnc_id": 11274,
"hgvs_c": "c.6269+3G>T",
"hgvs_p": null,
"transcript": "XM_047431725.1",
"protein_id": "XP_047287681.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2328,
"cds_start": -4,
"cds_end": null,
"cds_length": 6987,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 11264,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTB",
"gene_hgnc_id": 11274,
"hgvs_c": "n.*24G>T",
"hgvs_p": null,
"transcript": "ENST00000542694.2",
"protein_id": null,
"transcript_support_level": 1,
"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": 580,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SPTB",
"gene_hgnc_id": 11274,
"dbsnp": "rs863223302",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.3100000023841858,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.46799999475479126,
"splice_prediction_selected": "Benign",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.31,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.185,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.47,
"spliceai_max_prediction": "Uncertain_significance",
"dbscsnv_ada_score": 0.852144605541424,
"dbscsnv_ada_prediction": "Benign",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP5,BP4",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 1,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP5",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000644917.1",
"gene_symbol": "SPTB",
"hgnc_id": 11274,
"effects": [
"splice_region_variant",
"intron_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.6269+3G>T",
"hgvs_p": null
}
],
"clinvar_disease": "Elliptocytosis 3",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Elliptocytosis 3",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}