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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: 17-44253228-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=44253228&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 44253228,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000262418.12",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A1",
"gene_hgnc_id": 11027,
"hgvs_c": "c.2201A>G",
"hgvs_p": "p.His734Arg",
"transcript": "NM_000342.4",
"protein_id": "NP_000333.1",
"transcript_support_level": null,
"aa_start": 734,
"aa_end": null,
"aa_length": 911,
"cds_start": 2201,
"cds_end": null,
"cds_length": 2736,
"cdna_start": 2351,
"cdna_end": null,
"cdna_length": 4954,
"mane_select": "ENST00000262418.12",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A1",
"gene_hgnc_id": 11027,
"hgvs_c": "c.2201A>G",
"hgvs_p": "p.His734Arg",
"transcript": "ENST00000262418.12",
"protein_id": "ENSP00000262418.6",
"transcript_support_level": 1,
"aa_start": 734,
"aa_end": null,
"aa_length": 911,
"cds_start": 2201,
"cds_end": null,
"cds_length": 2736,
"cdna_start": 2351,
"cdna_end": null,
"cdna_length": 4954,
"mane_select": "NM_000342.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A1",
"gene_hgnc_id": 11027,
"hgvs_c": "c.1103A>G",
"hgvs_p": "p.His368Arg",
"transcript": "ENST00000399246.3",
"protein_id": "ENSP00000382190.3",
"transcript_support_level": 5,
"aa_start": 368,
"aa_end": null,
"aa_length": 545,
"cds_start": 1103,
"cds_end": null,
"cds_length": 1638,
"cdna_start": 1252,
"cdna_end": null,
"cdna_length": 3855,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A1",
"gene_hgnc_id": 11027,
"hgvs_c": "c.2111A>G",
"hgvs_p": "p.His704Arg",
"transcript": "XM_011525129.3",
"protein_id": "XP_011523431.1",
"transcript_support_level": null,
"aa_start": 704,
"aa_end": null,
"aa_length": 881,
"cds_start": 2111,
"cds_end": null,
"cds_length": 2646,
"cdna_start": 2261,
"cdna_end": null,
"cdna_length": 4864,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A1",
"gene_hgnc_id": 11027,
"hgvs_c": "c.2006A>G",
"hgvs_p": "p.His669Arg",
"transcript": "XM_005257593.6",
"protein_id": "XP_005257650.1",
"transcript_support_level": null,
"aa_start": 669,
"aa_end": null,
"aa_length": 846,
"cds_start": 2006,
"cds_end": null,
"cds_length": 2541,
"cdna_start": 2135,
"cdna_end": null,
"cdna_length": 4738,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A1",
"gene_hgnc_id": 11027,
"hgvs_c": "c.2201A>G",
"hgvs_p": "p.His734Arg",
"transcript": "XM_011525130.2",
"protein_id": "XP_011523432.1",
"transcript_support_level": null,
"aa_start": 734,
"aa_end": null,
"aa_length": 788,
"cds_start": 2201,
"cds_end": null,
"cds_length": 2367,
"cdna_start": 2351,
"cdna_end": null,
"cdna_length": 2550,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SLC4A1",
"gene_hgnc_id": 11027,
"dbsnp": "rs863225462",
"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": 0.9908665418624878,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.901,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9849,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.42,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 8.017,
"phylop100way_prediction": "Pathogenic",
"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": 8,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM1,PM2,PP3_Strong",
"acmg_by_gene": [
{
"score": 8,
"benign_score": 0,
"pathogenic_score": 8,
"criteria": [
"PM1",
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000262418.12",
"gene_symbol": "SLC4A1",
"hgnc_id": 11027,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR,Unknown",
"hgvs_c": "c.2201A>G",
"hgvs_p": "p.His734Arg"
}
],
"clinvar_disease": "Cryohydrocytosis,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Cryohydrocytosis|not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}