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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: 1-246541065-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=246541065&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 246541065,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_022366.3",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFB2M",
"gene_hgnc_id": 18559,
"hgvs_c": "c.1157A>G",
"hgvs_p": "p.Lys386Arg",
"transcript": "NM_022366.3",
"protein_id": "NP_071761.1",
"transcript_support_level": null,
"aa_start": 386,
"aa_end": null,
"aa_length": 396,
"cds_start": 1157,
"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": "K",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFB2M",
"gene_hgnc_id": 18559,
"hgvs_c": "c.1157A>G",
"hgvs_p": "p.Lys386Arg",
"transcript": "ENST00000366514.5",
"protein_id": "ENSP00000355471.4",
"transcript_support_level": 1,
"aa_start": 386,
"aa_end": null,
"aa_length": 396,
"cds_start": 1157,
"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": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFB2M",
"gene_hgnc_id": 18559,
"hgvs_c": "c.1094A>G",
"hgvs_p": "p.Lys365Arg",
"transcript": "ENST00000873624.1",
"protein_id": "ENSP00000543683.1",
"transcript_support_level": null,
"aa_start": 365,
"aa_end": null,
"aa_length": 375,
"cds_start": 1094,
"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": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFB2M",
"gene_hgnc_id": 18559,
"hgvs_c": "c.1067A>G",
"hgvs_p": "p.Lys356Arg",
"transcript": "ENST00000873625.1",
"protein_id": "ENSP00000543684.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 366,
"cds_start": 1067,
"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": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFB2M",
"gene_hgnc_id": 18559,
"hgvs_c": "c.1004A>G",
"hgvs_p": "p.Lys335Arg",
"transcript": "ENST00000873623.1",
"protein_id": "ENSP00000543682.1",
"transcript_support_level": null,
"aa_start": 335,
"aa_end": null,
"aa_length": 345,
"cds_start": 1004,
"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": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFB2M",
"gene_hgnc_id": 18559,
"hgvs_c": "c.914A>G",
"hgvs_p": "p.Lys305Arg",
"transcript": "ENST00000936096.1",
"protein_id": "ENSP00000606155.1",
"transcript_support_level": null,
"aa_start": 305,
"aa_end": null,
"aa_length": 315,
"cds_start": 914,
"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": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFB2M",
"gene_hgnc_id": 18559,
"hgvs_c": "c.854A>G",
"hgvs_p": "p.Lys285Arg",
"transcript": "ENST00000873621.1",
"protein_id": "ENSP00000543680.1",
"transcript_support_level": null,
"aa_start": 285,
"aa_end": null,
"aa_length": 295,
"cds_start": 854,
"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": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFB2M",
"gene_hgnc_id": 18559,
"hgvs_c": "c.791A>G",
"hgvs_p": "p.Lys264Arg",
"transcript": "ENST00000936097.1",
"protein_id": "ENSP00000606156.1",
"transcript_support_level": null,
"aa_start": 264,
"aa_end": null,
"aa_length": 274,
"cds_start": 791,
"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": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFB2M",
"gene_hgnc_id": 18559,
"hgvs_c": "c.764A>G",
"hgvs_p": "p.Lys255Arg",
"transcript": "ENST00000873622.1",
"protein_id": "ENSP00000543681.1",
"transcript_support_level": null,
"aa_start": 255,
"aa_end": null,
"aa_length": 265,
"cds_start": 764,
"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": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFB2M",
"gene_hgnc_id": 18559,
"hgvs_c": "c.701A>G",
"hgvs_p": "p.Lys234Arg",
"transcript": "ENST00000936098.1",
"protein_id": "ENSP00000606157.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 244,
"cds_start": 701,
"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": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFB2M",
"gene_hgnc_id": 18559,
"hgvs_c": "c.854A>G",
"hgvs_p": "p.Lys285Arg",
"transcript": "XM_011544248.2",
"protein_id": "XP_011542550.1",
"transcript_support_level": null,
"aa_start": 285,
"aa_end": null,
"aa_length": 295,
"cds_start": 854,
"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": "rs781540747",
"frequency_reference_population": 0.000012396919,
"hom_count_reference_population": 0,
"allele_count_reference_population": 20,
"gnomad_exomes_af": 0.0000109507,
"gnomad_genomes_af": 0.0000262795,
"gnomad_exomes_ac": 16,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.1608625054359436,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.013,
"revel_prediction": "Benign",
"alphamissense_score": 0.0797,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.59,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.08,
"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": "NM_022366.3",
"gene_symbol": "TFB2M",
"hgnc_id": 18559,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1157A>G",
"hgvs_p": "p.Lys386Arg"
}
],
"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
}