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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: X-48792103-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=48792103&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 48792103,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000376670.9",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GATA1",
"gene_hgnc_id": 4170,
"hgvs_c": "c.480T>G",
"hgvs_p": "p.Asn160Lys",
"transcript": "NM_002049.4",
"protein_id": "NP_002040.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 413,
"cds_start": 480,
"cds_end": null,
"cds_length": 1242,
"cdna_start": 555,
"cdna_end": null,
"cdna_length": 1464,
"mane_select": "ENST00000376670.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GATA1",
"gene_hgnc_id": 4170,
"hgvs_c": "c.480T>G",
"hgvs_p": "p.Asn160Lys",
"transcript": "ENST00000376670.9",
"protein_id": "ENSP00000365858.3",
"transcript_support_level": 1,
"aa_start": 160,
"aa_end": null,
"aa_length": 413,
"cds_start": 480,
"cds_end": null,
"cds_length": 1242,
"cdna_start": 555,
"cdna_end": null,
"cdna_length": 1464,
"mane_select": "NM_002049.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GATA1",
"gene_hgnc_id": 4170,
"hgvs_c": "c.480T>G",
"hgvs_p": "p.Asn160Lys",
"transcript": "ENST00000696450.1",
"protein_id": "ENSP00000512637.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 418,
"cds_start": 480,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 605,
"cdna_end": null,
"cdna_length": 1529,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GATA1",
"gene_hgnc_id": 4170,
"hgvs_c": "c.231T>G",
"hgvs_p": "p.Asn77Lys",
"transcript": "ENST00000696452.1",
"protein_id": "ENSP00000512639.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 343,
"cds_start": 231,
"cds_end": null,
"cds_length": 1032,
"cdna_start": 344,
"cdna_end": null,
"cdna_length": 1292,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GATA1",
"gene_hgnc_id": 4170,
"hgvs_c": "c.231T>G",
"hgvs_p": "p.Asn77Lys",
"transcript": "ENST00000696451.1",
"protein_id": "ENSP00000512638.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 335,
"cds_start": 231,
"cds_end": null,
"cds_length": 1008,
"cdna_start": 344,
"cdna_end": null,
"cdna_length": 1268,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GATA1",
"gene_hgnc_id": 4170,
"hgvs_c": "c.480T>G",
"hgvs_p": "p.Asn160Lys",
"transcript": "ENST00000376665.4",
"protein_id": "ENSP00000365853.3",
"transcript_support_level": 5,
"aa_start": 160,
"aa_end": null,
"aa_length": 334,
"cds_start": 480,
"cds_end": null,
"cds_length": 1005,
"cdna_start": 572,
"cdna_end": null,
"cdna_length": 1140,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GATA1",
"gene_hgnc_id": 4170,
"hgvs_c": "c.231T>G",
"hgvs_p": "p.Asn77Lys",
"transcript": "ENST00000651144.2",
"protein_id": "ENSP00000498550.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 330,
"cds_start": 231,
"cds_end": null,
"cds_length": 993,
"cdna_start": 344,
"cdna_end": null,
"cdna_length": 1253,
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000232828",
"gene_hgnc_id": null,
"hgvs_c": "n.226+1598A>C",
"hgvs_p": null,
"transcript": "ENST00000746921.1",
"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": 408,
"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": 3,
"intron_rank_end": null,
"gene_symbol": "ENSG00000232828",
"gene_hgnc_id": null,
"hgvs_c": "n.443+1598A>C",
"hgvs_p": null,
"transcript": "ENST00000746923.1",
"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": 671,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "GATA1",
"gene_hgnc_id": 4170,
"dbsnp": "rs143332634",
"frequency_reference_population": 9.107659e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 9.10766e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.09066706895828247,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.257,
"revel_prediction": "Benign",
"alphamissense_score": 0.2511,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.48,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.06,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000376670.9",
"gene_symbol": "GATA1",
"hgnc_id": 4170,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,XL,AD",
"hgvs_c": "c.480T>G",
"hgvs_p": "p.Asn160Lys"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000746921.1",
"gene_symbol": "ENSG00000232828",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.226+1598A>C",
"hgvs_p": null
}
],
"clinvar_disease": "Diamond-Blackfan anemia,GATA binding protein 1 related thrombocytopenia with dyserythropoiesis",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "GATA binding protein 1 related thrombocytopenia with dyserythropoiesis;Diamond-Blackfan anemia",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}