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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: 1-246544662-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=246544662&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 246544662,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_022366.3",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "P",
"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.878A>C",
"hgvs_p": "p.Gln293Pro",
"transcript": "NM_022366.3",
"protein_id": "NP_071761.1",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 396,
"cds_start": 878,
"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": "Q",
"aa_alt": "P",
"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.878A>C",
"hgvs_p": "p.Gln293Pro",
"transcript": "ENST00000366514.5",
"protein_id": "ENSP00000355471.4",
"transcript_support_level": 1,
"aa_start": 293,
"aa_end": null,
"aa_length": 396,
"cds_start": 878,
"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": "Q",
"aa_alt": "P",
"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.815A>C",
"hgvs_p": "p.Gln272Pro",
"transcript": "ENST00000873624.1",
"protein_id": "ENSP00000543683.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 375,
"cds_start": 815,
"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": "Q",
"aa_alt": "P",
"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.788A>C",
"hgvs_p": "p.Gln263Pro",
"transcript": "ENST00000873625.1",
"protein_id": "ENSP00000543684.1",
"transcript_support_level": null,
"aa_start": 263,
"aa_end": null,
"aa_length": 366,
"cds_start": 788,
"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": "Q",
"aa_alt": "P",
"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.725A>C",
"hgvs_p": "p.Gln242Pro",
"transcript": "ENST00000873623.1",
"protein_id": "ENSP00000543682.1",
"transcript_support_level": null,
"aa_start": 242,
"aa_end": null,
"aa_length": 345,
"cds_start": 725,
"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": "Q",
"aa_alt": "P",
"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.635A>C",
"hgvs_p": "p.Gln212Pro",
"transcript": "ENST00000936096.1",
"protein_id": "ENSP00000606155.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 315,
"cds_start": 635,
"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": "Q",
"aa_alt": "P",
"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.575A>C",
"hgvs_p": "p.Gln192Pro",
"transcript": "ENST00000873621.1",
"protein_id": "ENSP00000543680.1",
"transcript_support_level": null,
"aa_start": 192,
"aa_end": null,
"aa_length": 295,
"cds_start": 575,
"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": "Q",
"aa_alt": "P",
"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.512A>C",
"hgvs_p": "p.Gln171Pro",
"transcript": "ENST00000936097.1",
"protein_id": "ENSP00000606156.1",
"transcript_support_level": null,
"aa_start": 171,
"aa_end": null,
"aa_length": 274,
"cds_start": 512,
"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": "Q",
"aa_alt": "P",
"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.485A>C",
"hgvs_p": "p.Gln162Pro",
"transcript": "ENST00000873622.1",
"protein_id": "ENSP00000543681.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 265,
"cds_start": 485,
"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": "Q",
"aa_alt": "P",
"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.422A>C",
"hgvs_p": "p.Gln141Pro",
"transcript": "ENST00000936098.1",
"protein_id": "ENSP00000606157.1",
"transcript_support_level": null,
"aa_start": 141,
"aa_end": null,
"aa_length": 244,
"cds_start": 422,
"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": "Q",
"aa_alt": "P",
"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.575A>C",
"hgvs_p": "p.Gln192Pro",
"transcript": "XM_011544248.2",
"protein_id": "XP_011542550.1",
"transcript_support_level": null,
"aa_start": 192,
"aa_end": null,
"aa_length": 295,
"cds_start": 575,
"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": "rs966820999",
"frequency_reference_population": 0.0000065684035,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.0000065684,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.1422695815563202,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.083,
"revel_prediction": "Benign",
"alphamissense_score": 0.0782,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.51,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.576,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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.878A>C",
"hgvs_p": "p.Gln293Pro"
}
],
"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
}