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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: 1-174241635-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=174241635&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 174241635,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001366446.1",
"consequences": [
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABGAP1L",
"gene_hgnc_id": 24663,
"hgvs_c": "c.695T>G",
"hgvs_p": "p.Phe232Cys",
"transcript": "NM_001366446.1",
"protein_id": "NP_001353375.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 1051,
"cds_start": 695,
"cds_end": null,
"cds_length": 3156,
"cdna_start": 866,
"cdna_end": null,
"cdna_length": 8634,
"mane_select": "ENST00000681986.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABGAP1L",
"gene_hgnc_id": 24663,
"hgvs_c": "c.695T>G",
"hgvs_p": "p.Phe232Cys",
"transcript": "ENST00000681986.1",
"protein_id": "ENSP00000507884.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 1051,
"cds_start": 695,
"cds_end": null,
"cds_length": 3156,
"cdna_start": 866,
"cdna_end": null,
"cdna_length": 8634,
"mane_select": "NM_001366446.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABGAP1L",
"gene_hgnc_id": 24663,
"hgvs_c": "c.584T>G",
"hgvs_p": "p.Phe195Cys",
"transcript": "ENST00000357444.10",
"protein_id": "ENSP00000350027.6",
"transcript_support_level": 1,
"aa_start": 195,
"aa_end": null,
"aa_length": 605,
"cds_start": 584,
"cds_end": null,
"cds_length": 1818,
"cdna_start": 865,
"cdna_end": null,
"cdna_length": 2605,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABGAP1L",
"gene_hgnc_id": 24663,
"hgvs_c": "c.695T>G",
"hgvs_p": "p.Phe232Cys",
"transcript": "ENST00000457696.1",
"protein_id": "ENSP00000403136.1",
"transcript_support_level": 1,
"aa_start": 232,
"aa_end": null,
"aa_length": 581,
"cds_start": 695,
"cds_end": null,
"cds_length": 1746,
"cdna_start": 796,
"cdna_end": null,
"cdna_length": 1847,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABGAP1L",
"gene_hgnc_id": 24663,
"hgvs_c": "c.695T>G",
"hgvs_p": "p.Phe232Cys",
"transcript": "NM_001366448.1",
"protein_id": "NP_001353377.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 985,
"cds_start": 695,
"cds_end": null,
"cds_length": 2958,
"cdna_start": 866,
"cdna_end": null,
"cdna_length": 8436,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABGAP1L",
"gene_hgnc_id": 24663,
"hgvs_c": "c.695T>G",
"hgvs_p": "p.Phe232Cys",
"transcript": "NM_014857.5",
"protein_id": "NP_055672.3",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 815,
"cds_start": 695,
"cds_end": null,
"cds_length": 2448,
"cdna_start": 866,
"cdna_end": null,
"cdna_length": 2901,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABGAP1L",
"gene_hgnc_id": 24663,
"hgvs_c": "c.695T>G",
"hgvs_p": "p.Phe232Cys",
"transcript": "ENST00000251507.8",
"protein_id": "ENSP00000251507.4",
"transcript_support_level": 2,
"aa_start": 232,
"aa_end": null,
"aa_length": 815,
"cds_start": 695,
"cds_end": null,
"cds_length": 2448,
"cdna_start": 869,
"cdna_end": null,
"cdna_length": 2899,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABGAP1L",
"gene_hgnc_id": 24663,
"hgvs_c": "c.584T>G",
"hgvs_p": "p.Phe195Cys",
"transcript": "NM_001366447.1",
"protein_id": "NP_001353376.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 778,
"cds_start": 584,
"cds_end": null,
"cds_length": 2337,
"cdna_start": 755,
"cdna_end": null,
"cdna_length": 2790,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABGAP1L",
"gene_hgnc_id": 24663,
"hgvs_c": "c.584T>G",
"hgvs_p": "p.Phe195Cys",
"transcript": "NM_001366445.1",
"protein_id": "NP_001353374.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 605,
"cds_start": 584,
"cds_end": null,
"cds_length": 1818,
"cdna_start": 755,
"cdna_end": null,
"cdna_length": 2495,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABGAP1L",
"gene_hgnc_id": 24663,
"hgvs_c": "c.695T>G",
"hgvs_p": "p.Phe232Cys",
"transcript": "XM_011510223.3",
"protein_id": "XP_011508525.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 1051,
"cds_start": 695,
"cds_end": null,
"cds_length": 3156,
"cdna_start": 953,
"cdna_end": null,
"cdna_length": 8721,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABGAP1L",
"gene_hgnc_id": 24663,
"hgvs_c": "c.584T>G",
"hgvs_p": "p.Phe195Cys",
"transcript": "XM_005245681.3",
"protein_id": "XP_005245738.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 1014,
"cds_start": 584,
"cds_end": null,
"cds_length": 3045,
"cdna_start": 755,
"cdna_end": null,
"cdna_length": 8523,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABGAP1L",
"gene_hgnc_id": 24663,
"hgvs_c": "c.584T>G",
"hgvs_p": "p.Phe195Cys",
"transcript": "XM_047436028.1",
"protein_id": "XP_047291984.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 1014,
"cds_start": 584,
"cds_end": null,
"cds_length": 3045,
"cdna_start": 842,
"cdna_end": null,
"cdna_length": 8610,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABGAP1L",
"gene_hgnc_id": 24663,
"hgvs_c": "c.584T>G",
"hgvs_p": "p.Phe195Cys",
"transcript": "XM_047436039.1",
"protein_id": "XP_047291995.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 948,
"cds_start": 584,
"cds_end": null,
"cds_length": 2847,
"cdna_start": 755,
"cdna_end": null,
"cdna_length": 8325,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABGAP1L",
"gene_hgnc_id": 24663,
"hgvs_c": "c.695T>G",
"hgvs_p": "p.Phe232Cys",
"transcript": "XM_047436050.1",
"protein_id": "XP_047292006.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 815,
"cds_start": 695,
"cds_end": null,
"cds_length": 2448,
"cdna_start": 953,
"cdna_end": null,
"cdna_length": 2988,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABGAP1L",
"gene_hgnc_id": 24663,
"hgvs_c": "n.281T>G",
"hgvs_p": null,
"transcript": "ENST00000529474.2",
"protein_id": null,
"transcript_support_level": 4,
"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": 524,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABGAP1L",
"gene_hgnc_id": 24663,
"hgvs_c": "n.695T>G",
"hgvs_p": null,
"transcript": "ENST00000635248.1",
"protein_id": "ENSP00000489232.1",
"transcript_support_level": 5,
"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": 3074,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABGAP1L",
"gene_hgnc_id": 24663,
"hgvs_c": "n.866T>G",
"hgvs_p": null,
"transcript": "NR_158981.1",
"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": 3131,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABGAP1L",
"gene_hgnc_id": 24663,
"hgvs_c": "n.866T>G",
"hgvs_p": null,
"transcript": "NR_158982.1",
"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": 8848,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "RABGAP1L",
"gene_hgnc_id": 24663,
"dbsnp": "rs915737768",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8670955896377563,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.796,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9801,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.17,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.647,
"phylop100way_prediction": "Pathogenic",
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001366446.1",
"gene_symbol": "RABGAP1L",
"hgnc_id": 24663,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.695T>G",
"hgvs_p": "p.Phe232Cys"
}
],
"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
}