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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: 1-246544548-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=246544548&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 246544548,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_022366.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFB2M",
"gene_hgnc_id": 18559,
"hgvs_c": "c.992G>A",
"hgvs_p": "p.Arg331His",
"transcript": "NM_022366.3",
"protein_id": "NP_071761.1",
"transcript_support_level": null,
"aa_start": 331,
"aa_end": null,
"aa_length": 396,
"cds_start": 992,
"cds_end": null,
"cds_length": 1191,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000366514.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_022366.3"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFB2M",
"gene_hgnc_id": 18559,
"hgvs_c": "c.992G>A",
"hgvs_p": "p.Arg331His",
"transcript": "ENST00000366514.5",
"protein_id": "ENSP00000355471.4",
"transcript_support_level": 1,
"aa_start": 331,
"aa_end": null,
"aa_length": 396,
"cds_start": 992,
"cds_end": null,
"cds_length": 1191,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_022366.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000366514.5"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFB2M",
"gene_hgnc_id": 18559,
"hgvs_c": "c.929G>A",
"hgvs_p": "p.Arg310His",
"transcript": "ENST00000873624.1",
"protein_id": "ENSP00000543683.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 375,
"cds_start": 929,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873624.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFB2M",
"gene_hgnc_id": 18559,
"hgvs_c": "c.902G>A",
"hgvs_p": "p.Arg301His",
"transcript": "ENST00000873625.1",
"protein_id": "ENSP00000543684.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 366,
"cds_start": 902,
"cds_end": null,
"cds_length": 1101,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873625.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFB2M",
"gene_hgnc_id": 18559,
"hgvs_c": "c.839G>A",
"hgvs_p": "p.Arg280His",
"transcript": "ENST00000873623.1",
"protein_id": "ENSP00000543682.1",
"transcript_support_level": null,
"aa_start": 280,
"aa_end": null,
"aa_length": 345,
"cds_start": 839,
"cds_end": null,
"cds_length": 1038,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873623.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFB2M",
"gene_hgnc_id": 18559,
"hgvs_c": "c.749G>A",
"hgvs_p": "p.Arg250His",
"transcript": "ENST00000936096.1",
"protein_id": "ENSP00000606155.1",
"transcript_support_level": null,
"aa_start": 250,
"aa_end": null,
"aa_length": 315,
"cds_start": 749,
"cds_end": null,
"cds_length": 948,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936096.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFB2M",
"gene_hgnc_id": 18559,
"hgvs_c": "c.689G>A",
"hgvs_p": "p.Arg230His",
"transcript": "ENST00000873621.1",
"protein_id": "ENSP00000543680.1",
"transcript_support_level": null,
"aa_start": 230,
"aa_end": null,
"aa_length": 295,
"cds_start": 689,
"cds_end": null,
"cds_length": 888,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873621.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFB2M",
"gene_hgnc_id": 18559,
"hgvs_c": "c.626G>A",
"hgvs_p": "p.Arg209His",
"transcript": "ENST00000936097.1",
"protein_id": "ENSP00000606156.1",
"transcript_support_level": null,
"aa_start": 209,
"aa_end": null,
"aa_length": 274,
"cds_start": 626,
"cds_end": null,
"cds_length": 825,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936097.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFB2M",
"gene_hgnc_id": 18559,
"hgvs_c": "c.599G>A",
"hgvs_p": "p.Arg200His",
"transcript": "ENST00000873622.1",
"protein_id": "ENSP00000543681.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 265,
"cds_start": 599,
"cds_end": null,
"cds_length": 798,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873622.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFB2M",
"gene_hgnc_id": 18559,
"hgvs_c": "c.536G>A",
"hgvs_p": "p.Arg179His",
"transcript": "ENST00000936098.1",
"protein_id": "ENSP00000606157.1",
"transcript_support_level": null,
"aa_start": 179,
"aa_end": null,
"aa_length": 244,
"cds_start": 536,
"cds_end": null,
"cds_length": 735,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936098.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFB2M",
"gene_hgnc_id": 18559,
"hgvs_c": "c.689G>A",
"hgvs_p": "p.Arg230His",
"transcript": "XM_011544248.2",
"protein_id": "XP_011542550.1",
"transcript_support_level": null,
"aa_start": 230,
"aa_end": null,
"aa_length": 295,
"cds_start": 689,
"cds_end": null,
"cds_length": 888,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011544248.2"
}
],
"gene_symbol": "TFB2M",
"gene_hgnc_id": 18559,
"dbsnp": "rs770122933",
"frequency_reference_population": 0.000025502746,
"hom_count_reference_population": 0,
"allele_count_reference_population": 41,
"gnomad_exomes_af": 0.0000274815,
"gnomad_genomes_af": 0.00000657255,
"gnomad_exomes_ac": 40,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6661107540130615,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.269,
"revel_prediction": "Benign",
"alphamissense_score": 0.2286,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.35,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.314,
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM1,PM2",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM1",
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_022366.3",
"gene_symbol": "TFB2M",
"hgnc_id": 18559,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.992G>A",
"hgvs_p": "p.Arg331His"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}