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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: 8-123789623-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=123789623&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 123789623,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_144963.4",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM91A1",
"gene_hgnc_id": 26306,
"hgvs_c": "c.1289C>T",
"hgvs_p": "p.Thr430Ile",
"transcript": "NM_144963.4",
"protein_id": "NP_659400.3",
"transcript_support_level": null,
"aa_start": 430,
"aa_end": null,
"aa_length": 838,
"cds_start": 1289,
"cds_end": null,
"cds_length": 2517,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000334705.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_144963.4"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM91A1",
"gene_hgnc_id": 26306,
"hgvs_c": "c.1289C>T",
"hgvs_p": "p.Thr430Ile",
"transcript": "ENST00000334705.12",
"protein_id": "ENSP00000335082.7",
"transcript_support_level": 1,
"aa_start": 430,
"aa_end": null,
"aa_length": 838,
"cds_start": 1289,
"cds_end": null,
"cds_length": 2517,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_144963.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000334705.12"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM91A1",
"gene_hgnc_id": 26306,
"hgvs_c": "n.*639C>T",
"hgvs_p": null,
"transcript": "ENST00000519721.5",
"protein_id": "ENSP00000429784.1",
"transcript_support_level": 1,
"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": "nonsense_mediated_decay",
"feature": "ENST00000519721.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM91A1",
"gene_hgnc_id": 26306,
"hgvs_c": "n.*639C>T",
"hgvs_p": null,
"transcript": "ENST00000519721.5",
"protein_id": "ENSP00000429784.1",
"transcript_support_level": 1,
"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": "nonsense_mediated_decay",
"feature": "ENST00000519721.5"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM91A1",
"gene_hgnc_id": 26306,
"hgvs_c": "c.1436C>T",
"hgvs_p": "p.Thr479Ile",
"transcript": "ENST00000913292.1",
"protein_id": "ENSP00000583351.1",
"transcript_support_level": null,
"aa_start": 479,
"aa_end": null,
"aa_length": 887,
"cds_start": 1436,
"cds_end": null,
"cds_length": 2664,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913292.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM91A1",
"gene_hgnc_id": 26306,
"hgvs_c": "c.1370C>T",
"hgvs_p": "p.Thr457Ile",
"transcript": "ENST00000870920.1",
"protein_id": "ENSP00000540979.1",
"transcript_support_level": null,
"aa_start": 457,
"aa_end": null,
"aa_length": 865,
"cds_start": 1370,
"cds_end": null,
"cds_length": 2598,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870920.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM91A1",
"gene_hgnc_id": 26306,
"hgvs_c": "c.1283C>T",
"hgvs_p": "p.Thr428Ile",
"transcript": "ENST00000913293.1",
"protein_id": "ENSP00000583352.1",
"transcript_support_level": null,
"aa_start": 428,
"aa_end": null,
"aa_length": 836,
"cds_start": 1283,
"cds_end": null,
"cds_length": 2511,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913293.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM91A1",
"gene_hgnc_id": 26306,
"hgvs_c": "c.1289C>T",
"hgvs_p": "p.Thr430Ile",
"transcript": "ENST00000870918.1",
"protein_id": "ENSP00000540977.1",
"transcript_support_level": null,
"aa_start": 430,
"aa_end": null,
"aa_length": 803,
"cds_start": 1289,
"cds_end": null,
"cds_length": 2412,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870918.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM91A1",
"gene_hgnc_id": 26306,
"hgvs_c": "c.1163C>T",
"hgvs_p": "p.Thr388Ile",
"transcript": "ENST00000870919.1",
"protein_id": "ENSP00000540978.1",
"transcript_support_level": null,
"aa_start": 388,
"aa_end": null,
"aa_length": 796,
"cds_start": 1163,
"cds_end": null,
"cds_length": 2391,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870919.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM91A1",
"gene_hgnc_id": 26306,
"hgvs_c": "c.1289C>T",
"hgvs_p": "p.Thr430Ile",
"transcript": "NM_001317918.1",
"protein_id": "NP_001304847.1",
"transcript_support_level": null,
"aa_start": 430,
"aa_end": null,
"aa_length": 789,
"cds_start": 1289,
"cds_end": null,
"cds_length": 2370,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001317918.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM91A1",
"gene_hgnc_id": 26306,
"hgvs_c": "c.1289C>T",
"hgvs_p": "p.Thr430Ile",
"transcript": "ENST00000521166.5",
"protein_id": "ENSP00000429491.1",
"transcript_support_level": 2,
"aa_start": 430,
"aa_end": null,
"aa_length": 789,
"cds_start": 1289,
"cds_end": null,
"cds_length": 2370,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000521166.5"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM91A1",
"gene_hgnc_id": 26306,
"hgvs_c": "c.563C>T",
"hgvs_p": "p.Thr188Ile",
"transcript": "NM_001317917.2",
"protein_id": "NP_001304846.2",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 596,
"cds_start": 563,
"cds_end": null,
"cds_length": 1791,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001317917.2"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM91A1",
"gene_hgnc_id": 26306,
"hgvs_c": "c.113C>T",
"hgvs_p": "p.Thr38Ile",
"transcript": "ENST00000913291.1",
"protein_id": "ENSP00000583350.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 446,
"cds_start": 113,
"cds_end": null,
"cds_length": 1341,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913291.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM91A1",
"gene_hgnc_id": 26306,
"hgvs_c": "c.1064C>T",
"hgvs_p": "p.Thr355Ile",
"transcript": "XM_047421405.1",
"protein_id": "XP_047277361.1",
"transcript_support_level": null,
"aa_start": 355,
"aa_end": null,
"aa_length": 763,
"cds_start": 1064,
"cds_end": null,
"cds_length": 2292,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421405.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM91A1",
"gene_hgnc_id": 26306,
"hgvs_c": "c.*25C>T",
"hgvs_p": null,
"transcript": "XM_047421406.1",
"protein_id": "XP_047277362.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 436,
"cds_start": null,
"cds_end": null,
"cds_length": 1311,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421406.1"
}
],
"gene_symbol": "FAM91A1",
"gene_hgnc_id": 26306,
"dbsnp": "rs554992185",
"frequency_reference_population": 0.0000012410259,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 6.852e-7,
"gnomad_genomes_af": 0.00000657281,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.2503228485584259,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.215,
"revel_prediction": "Benign",
"alphamissense_score": 0.4111,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.13,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.363,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_144963.4",
"gene_symbol": "FAM91A1",
"hgnc_id": 26306,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1289C>T",
"hgvs_p": "p.Thr430Ile"
}
],
"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
}