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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: 14-64769113-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=64769113&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 64769113,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "NM_001024858.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTB",
"gene_hgnc_id": 11274,
"hgvs_c": "c.5943C>T",
"hgvs_p": "p.Arg1981Arg",
"transcript": "NM_001355436.2",
"protein_id": "NP_001342365.1",
"transcript_support_level": null,
"aa_start": 1981,
"aa_end": null,
"aa_length": 2328,
"cds_start": 5943,
"cds_end": null,
"cds_length": 6987,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000644917.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001355436.2"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTB",
"gene_hgnc_id": 11274,
"hgvs_c": "c.5943C>T",
"hgvs_p": "p.Arg1981Arg",
"transcript": "ENST00000644917.1",
"protein_id": "ENSP00000495909.1",
"transcript_support_level": null,
"aa_start": 1981,
"aa_end": null,
"aa_length": 2328,
"cds_start": 5943,
"cds_end": null,
"cds_length": 6987,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001355436.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000644917.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTB",
"gene_hgnc_id": 11274,
"hgvs_c": "c.1938C>T",
"hgvs_p": "p.Arg646Arg",
"transcript": "ENST00000553938.5",
"protein_id": "ENSP00000451324.1",
"transcript_support_level": 1,
"aa_start": 646,
"aa_end": null,
"aa_length": 1028,
"cds_start": 1938,
"cds_end": null,
"cds_length": 3087,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000553938.5"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTB",
"gene_hgnc_id": 11274,
"hgvs_c": "c.5943C>T",
"hgvs_p": "p.Arg1981Arg",
"transcript": "NM_001024858.4",
"protein_id": "NP_001020029.1",
"transcript_support_level": null,
"aa_start": 1981,
"aa_end": null,
"aa_length": 2328,
"cds_start": 5943,
"cds_end": null,
"cds_length": 6987,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001024858.4"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTB",
"gene_hgnc_id": 11274,
"hgvs_c": "c.5943C>T",
"hgvs_p": "p.Arg1981Arg",
"transcript": "ENST00000389722.7",
"protein_id": "ENSP00000374372.3",
"transcript_support_level": 2,
"aa_start": 1981,
"aa_end": null,
"aa_length": 2328,
"cds_start": 5943,
"cds_end": null,
"cds_length": 6987,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000389722.7"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTB",
"gene_hgnc_id": 11274,
"hgvs_c": "c.5943C>T",
"hgvs_p": "p.Arg1981Arg",
"transcript": "ENST00000961380.1",
"protein_id": "ENSP00000631439.1",
"transcript_support_level": null,
"aa_start": 1981,
"aa_end": null,
"aa_length": 2328,
"cds_start": 5943,
"cds_end": null,
"cds_length": 6987,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961380.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTB",
"gene_hgnc_id": 11274,
"hgvs_c": "c.5943C>T",
"hgvs_p": "p.Arg1981Arg",
"transcript": "ENST00000961381.1",
"protein_id": "ENSP00000631440.1",
"transcript_support_level": null,
"aa_start": 1981,
"aa_end": null,
"aa_length": 2328,
"cds_start": 5943,
"cds_end": null,
"cds_length": 6987,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961381.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTB",
"gene_hgnc_id": 11274,
"hgvs_c": "c.5943C>T",
"hgvs_p": "p.Arg1981Arg",
"transcript": "ENST00000961382.1",
"protein_id": "ENSP00000631441.1",
"transcript_support_level": null,
"aa_start": 1981,
"aa_end": null,
"aa_length": 2328,
"cds_start": 5943,
"cds_end": null,
"cds_length": 6987,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961382.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTB",
"gene_hgnc_id": 11274,
"hgvs_c": "c.5862C>T",
"hgvs_p": "p.Arg1954Arg",
"transcript": "ENST00000902733.1",
"protein_id": "ENSP00000572792.1",
"transcript_support_level": null,
"aa_start": 1954,
"aa_end": null,
"aa_length": 2301,
"cds_start": 5862,
"cds_end": null,
"cds_length": 6906,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902733.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTB",
"gene_hgnc_id": 11274,
"hgvs_c": "c.5943C>T",
"hgvs_p": "p.Arg1981Arg",
"transcript": "NM_001355437.2",
"protein_id": "NP_001342366.1",
"transcript_support_level": null,
"aa_start": 1981,
"aa_end": null,
"aa_length": 2137,
"cds_start": 5943,
"cds_end": null,
"cds_length": 6414,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001355437.2"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTB",
"gene_hgnc_id": 11274,
"hgvs_c": "c.5943C>T",
"hgvs_p": "p.Arg1981Arg",
"transcript": "ENST00000389720.4",
"protein_id": "ENSP00000374370.4",
"transcript_support_level": 5,
"aa_start": 1981,
"aa_end": null,
"aa_length": 2137,
"cds_start": 5943,
"cds_end": null,
"cds_length": 6414,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000389720.4"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTB",
"gene_hgnc_id": 11274,
"hgvs_c": "c.5943C>T",
"hgvs_p": "p.Arg1981Arg",
"transcript": "XM_017021612.3",
"protein_id": "XP_016877101.1",
"transcript_support_level": null,
"aa_start": 1981,
"aa_end": null,
"aa_length": 2328,
"cds_start": 5943,
"cds_end": null,
"cds_length": 6987,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017021612.3"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTB",
"gene_hgnc_id": 11274,
"hgvs_c": "c.5943C>T",
"hgvs_p": "p.Arg1981Arg",
"transcript": "XM_024449699.2",
"protein_id": "XP_024305467.1",
"transcript_support_level": null,
"aa_start": 1981,
"aa_end": null,
"aa_length": 2328,
"cds_start": 5943,
"cds_end": null,
"cds_length": 6987,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024449699.2"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTB",
"gene_hgnc_id": 11274,
"hgvs_c": "c.5943C>T",
"hgvs_p": "p.Arg1981Arg",
"transcript": "XM_047431724.1",
"protein_id": "XP_047287680.1",
"transcript_support_level": null,
"aa_start": 1981,
"aa_end": null,
"aa_length": 2328,
"cds_start": 5943,
"cds_end": null,
"cds_length": 6987,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431724.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTB",
"gene_hgnc_id": 11274,
"hgvs_c": "c.5943C>T",
"hgvs_p": "p.Arg1981Arg",
"transcript": "XM_047431725.1",
"protein_id": "XP_047287681.1",
"transcript_support_level": null,
"aa_start": 1981,
"aa_end": null,
"aa_length": 2328,
"cds_start": 5943,
"cds_end": null,
"cds_length": 6987,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431725.1"
}
],
"gene_symbol": "SPTB",
"gene_hgnc_id": 11274,
"dbsnp": "rs75000411",
"frequency_reference_population": 0.00014998078,
"hom_count_reference_population": 1,
"allele_count_reference_population": 242,
"gnomad_exomes_af": 0.000149866,
"gnomad_genomes_af": 0.000151081,
"gnomad_exomes_ac": 219,
"gnomad_genomes_ac": 23,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8999999761581421,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.9,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -5.043,
"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_Strong,BP6,BP7",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_001024858.4",
"gene_symbol": "SPTB",
"hgnc_id": 11274,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.5943C>T",
"hgvs_p": "p.Arg1981Arg"
}
],
"clinvar_disease": " Dominant,Elliptocytosis,Spherocytosis,not provided,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:2 LB:2 B:1",
"phenotype_combined": "Spherocytosis, Dominant|not specified|Elliptocytosis|not provided",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}