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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: 2-201289477-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=201289477&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 201289477,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_139163.4",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLACC1",
"gene_hgnc_id": 14439,
"hgvs_c": "c.1122G>A",
"hgvs_p": "p.Thr374Thr",
"transcript": "NM_001127391.3",
"protein_id": "NP_001120863.1",
"transcript_support_level": null,
"aa_start": 374,
"aa_end": null,
"aa_length": 422,
"cds_start": 1122,
"cds_end": null,
"cds_length": 1269,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000392257.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001127391.3"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLACC1",
"gene_hgnc_id": 14439,
"hgvs_c": "c.1122G>A",
"hgvs_p": "p.Thr374Thr",
"transcript": "ENST00000392257.8",
"protein_id": "ENSP00000376086.3",
"transcript_support_level": 1,
"aa_start": 374,
"aa_end": null,
"aa_length": 422,
"cds_start": 1122,
"cds_end": null,
"cds_length": 1269,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001127391.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000392257.8"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLACC1",
"gene_hgnc_id": 14439,
"hgvs_c": "c.1191G>A",
"hgvs_p": "p.Thr397Thr",
"transcript": "ENST00000286190.9",
"protein_id": "ENSP00000286190.5",
"transcript_support_level": 1,
"aa_start": 397,
"aa_end": null,
"aa_length": 445,
"cds_start": 1191,
"cds_end": null,
"cds_length": 1338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000286190.9"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLACC1",
"gene_hgnc_id": 14439,
"hgvs_c": "c.1191G>A",
"hgvs_p": "p.Thr397Thr",
"transcript": "NM_139163.4",
"protein_id": "NP_631902.2",
"transcript_support_level": null,
"aa_start": 397,
"aa_end": null,
"aa_length": 445,
"cds_start": 1191,
"cds_end": null,
"cds_length": 1338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_139163.4"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLACC1",
"gene_hgnc_id": 14439,
"hgvs_c": "c.1191G>A",
"hgvs_p": "p.Thr397Thr",
"transcript": "ENST00000405148.6",
"protein_id": "ENSP00000385098.2",
"transcript_support_level": 5,
"aa_start": 397,
"aa_end": null,
"aa_length": 445,
"cds_start": 1191,
"cds_end": null,
"cds_length": 1338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000405148.6"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLACC1",
"gene_hgnc_id": 14439,
"hgvs_c": "c.1122G>A",
"hgvs_p": "p.Thr374Thr",
"transcript": "NM_001289993.2",
"protein_id": "NP_001276922.1",
"transcript_support_level": null,
"aa_start": 374,
"aa_end": null,
"aa_length": 422,
"cds_start": 1122,
"cds_end": null,
"cds_length": 1269,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001289993.2"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLACC1",
"gene_hgnc_id": 14439,
"hgvs_c": "c.1122G>A",
"hgvs_p": "p.Thr374Thr",
"transcript": "ENST00000439709.5",
"protein_id": "ENSP00000412073.1",
"transcript_support_level": 2,
"aa_start": 374,
"aa_end": null,
"aa_length": 422,
"cds_start": 1122,
"cds_end": null,
"cds_length": 1269,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000439709.5"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLACC1",
"gene_hgnc_id": 14439,
"hgvs_c": "c.1191G>A",
"hgvs_p": "p.Thr397Thr",
"transcript": "XM_024452696.2",
"protein_id": "XP_024308464.1",
"transcript_support_level": null,
"aa_start": 397,
"aa_end": null,
"aa_length": 445,
"cds_start": 1191,
"cds_end": null,
"cds_length": 1338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024452696.2"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLACC1",
"gene_hgnc_id": 14439,
"hgvs_c": "c.1137G>A",
"hgvs_p": "p.Thr379Thr",
"transcript": "XM_011510606.4",
"protein_id": "XP_011508908.1",
"transcript_support_level": null,
"aa_start": 379,
"aa_end": null,
"aa_length": 427,
"cds_start": 1137,
"cds_end": null,
"cds_length": 1284,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011510606.4"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLACC1",
"gene_hgnc_id": 14439,
"hgvs_c": "c.1122G>A",
"hgvs_p": "p.Thr374Thr",
"transcript": "XM_047443393.1",
"protein_id": "XP_047299349.1",
"transcript_support_level": null,
"aa_start": 374,
"aa_end": null,
"aa_length": 422,
"cds_start": 1122,
"cds_end": null,
"cds_length": 1269,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443393.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLACC1",
"gene_hgnc_id": 14439,
"hgvs_c": "c.1191G>A",
"hgvs_p": "p.Thr397Thr",
"transcript": "XM_047443394.1",
"protein_id": "XP_047299350.1",
"transcript_support_level": null,
"aa_start": 397,
"aa_end": null,
"aa_length": 408,
"cds_start": 1191,
"cds_end": null,
"cds_length": 1227,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443394.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLACC1",
"gene_hgnc_id": 14439,
"hgvs_c": "c.1191G>A",
"hgvs_p": "p.Thr397Thr",
"transcript": "XM_047443395.1",
"protein_id": "XP_047299351.1",
"transcript_support_level": null,
"aa_start": 397,
"aa_end": null,
"aa_length": 408,
"cds_start": 1191,
"cds_end": null,
"cds_length": 1227,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443395.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLACC1",
"gene_hgnc_id": 14439,
"hgvs_c": "c.882G>A",
"hgvs_p": "p.Thr294Thr",
"transcript": "XM_011510610.4",
"protein_id": "XP_011508912.1",
"transcript_support_level": null,
"aa_start": 294,
"aa_end": null,
"aa_length": 342,
"cds_start": 882,
"cds_end": null,
"cds_length": 1029,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011510610.4"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLACC1",
"gene_hgnc_id": 14439,
"hgvs_c": "c.564G>A",
"hgvs_p": "p.Thr188Thr",
"transcript": "XM_011510612.4",
"protein_id": "XP_011508914.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 236,
"cds_start": 564,
"cds_end": null,
"cds_length": 711,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011510612.4"
},
{
"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": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "CASP8",
"gene_hgnc_id": 1509,
"hgvs_c": "c.1259+4160C>T",
"hgvs_p": null,
"transcript": "ENST00000696069.1",
"protein_id": "ENSP00000512371.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 435,
"cds_start": null,
"cds_end": null,
"cds_length": 1308,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000696069.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "FLACC1",
"gene_hgnc_id": 14439,
"hgvs_c": "c.354+219G>A",
"hgvs_p": null,
"transcript": "ENST00000415745.5",
"protein_id": "ENSP00000402327.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 123,
"cds_start": null,
"cds_end": null,
"cds_length": 372,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000415745.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLACC1",
"gene_hgnc_id": 14439,
"hgvs_c": "n.1698G>A",
"hgvs_p": null,
"transcript": "ENST00000494171.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000494171.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLACC1",
"gene_hgnc_id": 14439,
"hgvs_c": "n.117G>A",
"hgvs_p": null,
"transcript": "ENST00000494223.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000494223.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLACC1",
"gene_hgnc_id": 14439,
"hgvs_c": "n.1699G>A",
"hgvs_p": null,
"transcript": "NR_110620.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_110620.2"
}
],
"gene_symbol": "FLACC1",
"gene_hgnc_id": 14439,
"dbsnp": "rs17468277",
"frequency_reference_population": 0.11512159,
"hom_count_reference_population": 11968,
"allele_count_reference_population": 185780,
"gnomad_exomes_af": 0.117035,
"gnomad_genomes_af": 0.0967545,
"gnomad_exomes_ac": 171047,
"gnomad_genomes_ac": 14733,
"gnomad_exomes_homalt": 11158,
"gnomad_genomes_homalt": 810,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.7799999713897705,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.11999999731779099,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.78,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.573,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.12,
"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": -21,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BA1",
"acmg_by_gene": [
{
"score": -21,
"benign_score": 21,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_139163.4",
"gene_symbol": "FLACC1",
"hgnc_id": 14439,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1191G>A",
"hgvs_p": "p.Thr397Thr"
},
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000696069.1",
"gene_symbol": "CASP8",
"hgnc_id": 1509,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1259+4160C>T",
"hgvs_p": null
}
],
"clinvar_disease": "not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"phenotype_combined": "not specified|not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}