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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: 1-229602230-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=229602230&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 6,
"criteria": [
"BP4_Moderate",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "TAF5L",
"hgnc_id": 17304,
"hgvs_c": "c.937C>T",
"hgvs_p": "p.Arg313Cys",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -6,
"transcript": "NM_014409.4",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_score": -6,
"allele_count_reference_population": 103,
"alphamissense_prediction": null,
"alphamissense_score": 0.0831,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": -0.08,
"chr": "1",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.2130623757839203,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 589,
"aa_ref": "R",
"aa_start": 313,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3174,
"cdna_start": 1178,
"cds_end": null,
"cds_length": 1770,
"cds_start": 937,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_014409.4",
"gene_hgnc_id": 17304,
"gene_symbol": "TAF5L",
"hgvs_c": "c.937C>T",
"hgvs_p": "p.Arg313Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000258281.7",
"protein_coding": true,
"protein_id": "NP_055224.1",
"strand": false,
"transcript": "NM_014409.4",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 589,
"aa_ref": "R",
"aa_start": 313,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3174,
"cdna_start": 1178,
"cds_end": null,
"cds_length": 1770,
"cds_start": 937,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000258281.7",
"gene_hgnc_id": 17304,
"gene_symbol": "TAF5L",
"hgvs_c": "c.937C>T",
"hgvs_p": "p.Arg313Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_014409.4",
"protein_coding": true,
"protein_id": "ENSP00000258281.2",
"strand": false,
"transcript": "ENST00000258281.7",
"transcript_support_level": 5
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 325,
"aa_ref": "R",
"aa_start": 313,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4062,
"cdna_start": 1026,
"cds_end": null,
"cds_length": 978,
"cds_start": 937,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000366675.3",
"gene_hgnc_id": 17304,
"gene_symbol": "TAF5L",
"hgvs_c": "c.937C>T",
"hgvs_p": "p.Arg313Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000355635.3",
"strand": false,
"transcript": "ENST00000366675.3",
"transcript_support_level": 1
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 589,
"aa_ref": "R",
"aa_start": 313,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3066,
"cdna_start": 1047,
"cds_end": null,
"cds_length": 1770,
"cds_start": 937,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000912671.1",
"gene_hgnc_id": 17304,
"gene_symbol": "TAF5L",
"hgvs_c": "c.937C>T",
"hgvs_p": "p.Arg313Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000582730.1",
"strand": false,
"transcript": "ENST00000912671.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 325,
"aa_ref": "R",
"aa_start": 313,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4214,
"cdna_start": 1178,
"cds_end": null,
"cds_length": 978,
"cds_start": 937,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001025247.2",
"gene_hgnc_id": 17304,
"gene_symbol": "TAF5L",
"hgvs_c": "c.937C>T",
"hgvs_p": "p.Arg313Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001020418.1",
"strand": false,
"transcript": "NM_001025247.2",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 589,
"aa_ref": "R",
"aa_start": 313,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2982,
"cdna_start": 986,
"cds_end": null,
"cds_length": 1770,
"cds_start": 937,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_005273099.5",
"gene_hgnc_id": 17304,
"gene_symbol": "TAF5L",
"hgvs_c": "c.937C>T",
"hgvs_p": "p.Arg313Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005273156.1",
"strand": false,
"transcript": "XM_005273099.5",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 518,
"aa_ref": "R",
"aa_start": 242,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2748,
"cdna_start": 752,
"cds_end": null,
"cds_length": 1557,
"cds_start": 724,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XM_011544162.2",
"gene_hgnc_id": 17304,
"gene_symbol": "TAF5L",
"hgvs_c": "c.724C>T",
"hgvs_p": "p.Arg242Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011542464.1",
"strand": false,
"transcript": "XM_011544162.2",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 497,
"aa_ref": "R",
"aa_start": 221,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2776,
"cdna_start": 780,
"cds_end": null,
"cds_length": 1494,
"cds_start": 661,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_011544164.3",
"gene_hgnc_id": 17304,
"gene_symbol": "TAF5L",
"hgvs_c": "c.661C>T",
"hgvs_p": "p.Arg221Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011542466.1",
"strand": false,
"transcript": "XM_011544164.3",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 497,
"aa_ref": "R",
"aa_start": 221,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3282,
"cdna_start": 1286,
"cds_end": null,
"cds_length": 1494,
"cds_start": 661,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_047417996.1",
"gene_hgnc_id": 17304,
"gene_symbol": "TAF5L",
"hgvs_c": "c.661C>T",
"hgvs_p": "p.Arg221Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047273952.1",
"strand": false,
"transcript": "XM_047417996.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 497,
"aa_ref": "R",
"aa_start": 221,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2848,
"cdna_start": 852,
"cds_end": null,
"cds_length": 1494,
"cds_start": 661,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_047417997.1",
"gene_hgnc_id": 17304,
"gene_symbol": "TAF5L",
"hgvs_c": "c.661C>T",
"hgvs_p": "p.Arg221Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047273953.1",
"strand": false,
"transcript": "XM_047417997.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs143900321",
"effect": "missense_variant",
"frequency_reference_population": 0.00006382087,
"gene_hgnc_id": 17304,
"gene_symbol": "TAF5L",
"gnomad_exomes_ac": 97,
"gnomad_exomes_af": 0.0000663579,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 6,
"gnomad_genomes_af": 0.000039442,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Uncertain significance",
"phenotype_combined": "not specified",
"phylop100way_prediction": "Uncertain_significance",
"phylop100way_score": 4.273,
"pos": 229602230,
"ref": "G",
"revel_prediction": "Uncertain_significance",
"revel_score": 0.337,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_014409.4"
}
]
}