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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: X-57448667-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=57448667&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 57448667,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000374900.5",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAAH2",
"gene_hgnc_id": 26440,
"hgvs_c": "c.1372G>A",
"hgvs_p": "p.Ala458Thr",
"transcript": "NM_174912.4",
"protein_id": "NP_777572.2",
"transcript_support_level": null,
"aa_start": 458,
"aa_end": null,
"aa_length": 532,
"cds_start": 1372,
"cds_end": null,
"cds_length": 1599,
"cdna_start": 1492,
"cdna_end": null,
"cdna_length": 1980,
"mane_select": "ENST00000374900.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAAH2",
"gene_hgnc_id": 26440,
"hgvs_c": "c.1372G>A",
"hgvs_p": "p.Ala458Thr",
"transcript": "ENST00000374900.5",
"protein_id": "ENSP00000364035.4",
"transcript_support_level": 1,
"aa_start": 458,
"aa_end": null,
"aa_length": 532,
"cds_start": 1372,
"cds_end": null,
"cds_length": 1599,
"cdna_start": 1492,
"cdna_end": null,
"cdna_length": 1980,
"mane_select": "NM_174912.4",
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FAAH2",
"gene_hgnc_id": 26440,
"hgvs_c": "n.51-15G>A",
"hgvs_p": null,
"transcript": "ENST00000491179.1",
"protein_id": null,
"transcript_support_level": 1,
"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": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAAH2",
"gene_hgnc_id": 26440,
"hgvs_c": "c.1252G>A",
"hgvs_p": "p.Ala418Thr",
"transcript": "NM_001353840.1",
"protein_id": "NP_001340769.1",
"transcript_support_level": null,
"aa_start": 418,
"aa_end": null,
"aa_length": 492,
"cds_start": 1252,
"cds_end": null,
"cds_length": 1479,
"cdna_start": 1401,
"cdna_end": null,
"cdna_length": 1892,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAAH2",
"gene_hgnc_id": 26440,
"hgvs_c": "c.1162G>A",
"hgvs_p": "p.Ala388Thr",
"transcript": "NM_001353841.1",
"protein_id": "NP_001340770.1",
"transcript_support_level": null,
"aa_start": 388,
"aa_end": null,
"aa_length": 462,
"cds_start": 1162,
"cds_end": null,
"cds_length": 1389,
"cdna_start": 1311,
"cdna_end": null,
"cdna_length": 1802,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAAH2",
"gene_hgnc_id": 26440,
"hgvs_c": "c.1372G>A",
"hgvs_p": "p.Ala458Thr",
"transcript": "XM_017029290.3",
"protein_id": "XP_016884779.1",
"transcript_support_level": null,
"aa_start": 458,
"aa_end": null,
"aa_length": 487,
"cds_start": 1372,
"cds_end": null,
"cds_length": 1464,
"cdna_start": 1521,
"cdna_end": null,
"cdna_length": 1991,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAAH2",
"gene_hgnc_id": 26440,
"hgvs_c": "c.1123G>A",
"hgvs_p": "p.Ala375Thr",
"transcript": "XM_005261985.4",
"protein_id": "XP_005262042.1",
"transcript_support_level": null,
"aa_start": 375,
"aa_end": null,
"aa_length": 449,
"cds_start": 1123,
"cds_end": null,
"cds_length": 1350,
"cdna_start": 1571,
"cdna_end": null,
"cdna_length": 2062,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAAH2",
"gene_hgnc_id": 26440,
"hgvs_c": "c.1123G>A",
"hgvs_p": "p.Ala375Thr",
"transcript": "XM_011530767.4",
"protein_id": "XP_011529069.1",
"transcript_support_level": null,
"aa_start": 375,
"aa_end": null,
"aa_length": 449,
"cds_start": 1123,
"cds_end": null,
"cds_length": 1350,
"cdna_start": 1731,
"cdna_end": null,
"cdna_length": 2222,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAAH2",
"gene_hgnc_id": 26440,
"hgvs_c": "c.1252G>A",
"hgvs_p": "p.Ala418Thr",
"transcript": "XM_047441860.1",
"protein_id": "XP_047297816.1",
"transcript_support_level": null,
"aa_start": 418,
"aa_end": null,
"aa_length": 447,
"cds_start": 1252,
"cds_end": null,
"cds_length": 1344,
"cdna_start": 1401,
"cdna_end": null,
"cdna_length": 1871,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAAH2",
"gene_hgnc_id": 26440,
"hgvs_c": "c.1042G>A",
"hgvs_p": "p.Ala348Thr",
"transcript": "XM_047441861.1",
"protein_id": "XP_047297817.1",
"transcript_support_level": null,
"aa_start": 348,
"aa_end": null,
"aa_length": 422,
"cds_start": 1042,
"cds_end": null,
"cds_length": 1269,
"cdna_start": 1191,
"cdna_end": null,
"cdna_length": 1682,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAAH2",
"gene_hgnc_id": 26440,
"hgvs_c": "c.1162G>A",
"hgvs_p": "p.Ala388Thr",
"transcript": "XM_017029292.2",
"protein_id": "XP_016884781.1",
"transcript_support_level": null,
"aa_start": 388,
"aa_end": null,
"aa_length": 417,
"cds_start": 1162,
"cds_end": null,
"cds_length": 1254,
"cdna_start": 1311,
"cdna_end": null,
"cdna_length": 1781,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAAH2",
"gene_hgnc_id": 26440,
"hgvs_c": "c.1042G>A",
"hgvs_p": "p.Ala348Thr",
"transcript": "XM_047441862.1",
"protein_id": "XP_047297818.1",
"transcript_support_level": null,
"aa_start": 348,
"aa_end": null,
"aa_length": 377,
"cds_start": 1042,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 1191,
"cdna_end": null,
"cdna_length": 1661,
"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": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAAH2",
"gene_hgnc_id": 26440,
"hgvs_c": "n.296G>A",
"hgvs_p": null,
"transcript": "ENST00000465623.1",
"protein_id": null,
"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": 383,
"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": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAAH2",
"gene_hgnc_id": 26440,
"hgvs_c": "n.1344G>A",
"hgvs_p": null,
"transcript": "NR_148557.2",
"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": 2038,
"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": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAAH2",
"gene_hgnc_id": 26440,
"hgvs_c": "n.1344G>A",
"hgvs_p": null,
"transcript": "NR_148564.2",
"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": 2013,
"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": 8,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "FAAH2",
"gene_hgnc_id": 26440,
"hgvs_c": "c.997-40090G>A",
"hgvs_p": null,
"transcript": "XM_005261987.5",
"protein_id": "XP_005262044.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 341,
"cds_start": -4,
"cds_end": null,
"cds_length": 1026,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1585,
"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": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "FAAH2",
"gene_hgnc_id": 26440,
"hgvs_c": "c.787-40090G>A",
"hgvs_p": null,
"transcript": "XM_047441864.1",
"protein_id": "XP_047297820.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 271,
"cds_start": -4,
"cds_end": null,
"cds_length": 816,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1375,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "FAAH2",
"gene_hgnc_id": 26440,
"dbsnp": "rs147173444",
"frequency_reference_population": 0.00007938135,
"hom_count_reference_population": 29,
"allele_count_reference_population": 96,
"gnomad_exomes_af": 0.0000774348,
"gnomad_genomes_af": 0.0000985186,
"gnomad_exomes_ac": 85,
"gnomad_genomes_ac": 11,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6544479131698608,
"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": 0.611,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.7716,
"alphamissense_prediction": "Pathogenic",
"bayesdelnoaf_score": -0.19,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.502,
"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": -1,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BS2_Supporting",
"acmg_by_gene": [
{
"score": -1,
"benign_score": 1,
"pathogenic_score": 0,
"criteria": [
"BS2_Supporting"
],
"verdict": "Likely_benign",
"transcript": "ENST00000374900.5",
"gene_symbol": "FAAH2",
"hgnc_id": 26440,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1372G>A",
"hgvs_p": "p.Ala458Thr"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}