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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: 14-75633674-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=75633674&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 75633674,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000238667.9",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLVCR2",
"gene_hgnc_id": 20105,
"hgvs_c": "c.998G>A",
"hgvs_p": "p.Arg333His",
"transcript": "NM_017791.3",
"protein_id": "NP_060261.2",
"transcript_support_level": null,
"aa_start": 333,
"aa_end": null,
"aa_length": 526,
"cds_start": 998,
"cds_end": null,
"cds_length": 1581,
"cdna_start": 1351,
"cdna_end": null,
"cdna_length": 3629,
"mane_select": "ENST00000238667.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLVCR2",
"gene_hgnc_id": 20105,
"hgvs_c": "c.998G>A",
"hgvs_p": "p.Arg333His",
"transcript": "ENST00000238667.9",
"protein_id": "ENSP00000238667.4",
"transcript_support_level": 1,
"aa_start": 333,
"aa_end": null,
"aa_length": 526,
"cds_start": 998,
"cds_end": null,
"cds_length": 1581,
"cdna_start": 1351,
"cdna_end": null,
"cdna_length": 3629,
"mane_select": "NM_017791.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLVCR2",
"gene_hgnc_id": 20105,
"hgvs_c": "c.383G>A",
"hgvs_p": "p.Arg128His",
"transcript": "NM_001195283.2",
"protein_id": "NP_001182212.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 321,
"cds_start": 383,
"cds_end": null,
"cds_length": 966,
"cdna_start": 414,
"cdna_end": null,
"cdna_length": 2692,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLVCR2",
"gene_hgnc_id": 20105,
"hgvs_c": "c.383G>A",
"hgvs_p": "p.Arg128His",
"transcript": "ENST00000539311.5",
"protein_id": "ENSP00000443439.1",
"transcript_support_level": 2,
"aa_start": 128,
"aa_end": null,
"aa_length": 321,
"cds_start": 383,
"cds_end": null,
"cds_length": 966,
"cdna_start": 492,
"cdna_end": null,
"cdna_length": 1221,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLVCR2",
"gene_hgnc_id": 20105,
"hgvs_c": "c.143G>A",
"hgvs_p": "p.Arg48His",
"transcript": "ENST00000555027.1",
"protein_id": "ENSP00000452453.1",
"transcript_support_level": 3,
"aa_start": 48,
"aa_end": null,
"aa_length": 241,
"cds_start": 143,
"cds_end": null,
"cds_length": 726,
"cdna_start": 194,
"cdna_end": null,
"cdna_length": 938,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLVCR2",
"gene_hgnc_id": 20105,
"hgvs_c": "c.101G>A",
"hgvs_p": "p.Arg34His",
"transcript": "ENST00000553341.5",
"protein_id": "ENSP00000452584.1",
"transcript_support_level": 5,
"aa_start": 34,
"aa_end": null,
"aa_length": 202,
"cds_start": 101,
"cds_end": null,
"cds_length": 611,
"cdna_start": 209,
"cdna_end": null,
"cdna_length": 719,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLVCR2",
"gene_hgnc_id": 20105,
"hgvs_c": "c.98G>A",
"hgvs_p": "p.Arg33His",
"transcript": "ENST00000554580.5",
"protein_id": "ENSP00000451781.1",
"transcript_support_level": 3,
"aa_start": 33,
"aa_end": null,
"aa_length": 202,
"cds_start": 98,
"cds_end": null,
"cds_length": 609,
"cdna_start": 158,
"cdna_end": null,
"cdna_length": 669,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLVCR2",
"gene_hgnc_id": 20105,
"hgvs_c": "c.242G>A",
"hgvs_p": "p.Arg81His",
"transcript": "ENST00000553587.5",
"protein_id": "ENSP00000451603.1",
"transcript_support_level": 2,
"aa_start": 81,
"aa_end": null,
"aa_length": 133,
"cds_start": 242,
"cds_end": null,
"cds_length": 402,
"cdna_start": 348,
"cdna_end": null,
"cdna_length": 584,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLVCR2",
"gene_hgnc_id": 20105,
"hgvs_c": "c.242G>A",
"hgvs_p": "p.Arg81His",
"transcript": "ENST00000555058.5",
"protein_id": "ENSP00000451104.1",
"transcript_support_level": 5,
"aa_start": 81,
"aa_end": null,
"aa_length": 87,
"cds_start": 242,
"cds_end": null,
"cds_length": 265,
"cdna_start": 509,
"cdna_end": null,
"cdna_length": 532,
"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": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTLL5",
"gene_hgnc_id": 19963,
"hgvs_c": "n.50G>A",
"hgvs_p": null,
"transcript": "ENST00000554132.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 182,
"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": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTLL5",
"gene_hgnc_id": 19963,
"hgvs_c": "n.50G>A",
"hgvs_p": null,
"transcript": "ENST00000556265.5",
"protein_id": null,
"transcript_support_level": 2,
"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": 286,
"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": "FLVCR2",
"gene_hgnc_id": 20105,
"hgvs_c": "n.372G>A",
"hgvs_p": null,
"transcript": "ENST00000556409.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 609,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "FLVCR2",
"gene_hgnc_id": 20105,
"hgvs_c": "c.196+8922G>A",
"hgvs_p": null,
"transcript": "ENST00000556856.1",
"protein_id": "ENSP00000452468.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 93,
"cds_start": -4,
"cds_end": null,
"cds_length": 282,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1020,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FLVCR2",
"gene_hgnc_id": 20105,
"hgvs_c": "n.187-12727G>A",
"hgvs_p": null,
"transcript": "ENST00000554496.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 441,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FLVCR2",
"gene_hgnc_id": 20105,
"hgvs_c": "n.59-29381G>A",
"hgvs_p": null,
"transcript": "ENST00000555385.1",
"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": 218,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "FLVCR2",
"gene_hgnc_id": 20105,
"hgvs_c": "n.305-1236G>A",
"hgvs_p": null,
"transcript": "ENST00000556241.5",
"protein_id": null,
"transcript_support_level": 3,
"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": 518,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "FLVCR2",
"gene_hgnc_id": 20105,
"dbsnp": "rs757778790",
"frequency_reference_population": 0.000039661292,
"hom_count_reference_population": 0,
"allele_count_reference_population": 64,
"gnomad_exomes_af": 0.0000383166,
"gnomad_genomes_af": 0.0000525776,
"gnomad_exomes_ac": 56,
"gnomad_genomes_ac": 8,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6367635130882263,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.306,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1767,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.03,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 6.516,
"phylop100way_prediction": "Uncertain_significance",
"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": 5,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM1,PM2,PP5",
"acmg_by_gene": [
{
"score": 5,
"benign_score": 0,
"pathogenic_score": 5,
"criteria": [
"PM1",
"PM2",
"PP5"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000238667.9",
"gene_symbol": "FLVCR2",
"hgnc_id": 20105,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.998G>A",
"hgvs_p": "p.Arg333His"
},
{
"score": 1,
"benign_score": 0,
"pathogenic_score": 1,
"criteria": [
"PP5"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000556265.5",
"gene_symbol": "TTLL5",
"hgnc_id": 19963,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "n.50G>A",
"hgvs_p": null
}
],
"clinvar_disease": "Posterior column ataxia-retinitis pigmentosa syndrome,not provided",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "LP:2 US:1",
"phenotype_combined": "not provided|Posterior column ataxia-retinitis pigmentosa syndrome",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}