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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: 1-222750009-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=222750009&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 222750009,
"ref": "A",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000445590.4",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM177B",
"gene_hgnc_id": 34395,
"hgvs_c": "c.428A>T",
"hgvs_p": "p.Gln143Leu",
"transcript": "NM_001394345.1",
"protein_id": "NP_001381274.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 158,
"cds_start": 428,
"cds_end": null,
"cds_length": 477,
"cdna_start": 682,
"cdna_end": null,
"cdna_length": 1677,
"mane_select": "ENST00000445590.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM177B",
"gene_hgnc_id": 34395,
"hgvs_c": "c.428A>T",
"hgvs_p": "p.Gln143Leu",
"transcript": "ENST00000445590.4",
"protein_id": "ENSP00000414451.2",
"transcript_support_level": 5,
"aa_start": 143,
"aa_end": null,
"aa_length": 158,
"cds_start": 428,
"cds_end": null,
"cds_length": 477,
"cdna_start": 682,
"cdna_end": null,
"cdna_length": 1677,
"mane_select": "NM_001394345.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM177B",
"gene_hgnc_id": 34395,
"hgvs_c": "c.428A>T",
"hgvs_p": "p.Gln143Leu",
"transcript": "NM_001324080.2",
"protein_id": "NP_001311009.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 158,
"cds_start": 428,
"cds_end": null,
"cds_length": 477,
"cdna_start": 603,
"cdna_end": null,
"cdna_length": 1399,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM177B",
"gene_hgnc_id": 34395,
"hgvs_c": "c.428A>T",
"hgvs_p": "p.Gln143Leu",
"transcript": "NM_207468.3",
"protein_id": "NP_997351.2",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 158,
"cds_start": 428,
"cds_end": null,
"cds_length": 477,
"cdna_start": 708,
"cdna_end": null,
"cdna_length": 1504,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM177B",
"gene_hgnc_id": 34395,
"hgvs_c": "c.428A>T",
"hgvs_p": "p.Gln143Leu",
"transcript": "ENST00000360827.6",
"protein_id": "ENSP00000354070.2",
"transcript_support_level": 5,
"aa_start": 143,
"aa_end": null,
"aa_length": 158,
"cds_start": 428,
"cds_end": null,
"cds_length": 477,
"cdna_start": 577,
"cdna_end": null,
"cdna_length": 764,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM177B",
"gene_hgnc_id": 34395,
"hgvs_c": "c.461A>T",
"hgvs_p": "p.Gln154Leu",
"transcript": "XM_047420602.1",
"protein_id": "XP_047276558.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 169,
"cds_start": 461,
"cds_end": null,
"cds_length": 510,
"cdna_start": 564,
"cdna_end": null,
"cdna_length": 1559,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM177B",
"gene_hgnc_id": 34395,
"hgvs_c": "c.428A>T",
"hgvs_p": "p.Gln143Leu",
"transcript": "XM_017001279.2",
"protein_id": "XP_016856768.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 158,
"cds_start": 428,
"cds_end": null,
"cds_length": 477,
"cdna_start": 1175,
"cdna_end": null,
"cdna_length": 2170,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM177B",
"gene_hgnc_id": 34395,
"hgvs_c": "c.428A>T",
"hgvs_p": "p.Gln143Leu",
"transcript": "XM_017001281.2",
"protein_id": "XP_016856770.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 158,
"cds_start": 428,
"cds_end": null,
"cds_length": 477,
"cdna_start": 1258,
"cdna_end": null,
"cdna_length": 2253,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM177B",
"gene_hgnc_id": 34395,
"hgvs_c": "c.428A>T",
"hgvs_p": "p.Gln143Leu",
"transcript": "XM_017001282.2",
"protein_id": "XP_016856771.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 158,
"cds_start": 428,
"cds_end": null,
"cds_length": 477,
"cdna_start": 686,
"cdna_end": null,
"cdna_length": 1681,
"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": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM177B",
"gene_hgnc_id": 34395,
"hgvs_c": "n.*569A>T",
"hgvs_p": null,
"transcript": "ENST00000391880.6",
"protein_id": "ENSP00000375752.2",
"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": 1994,
"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": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM177B",
"gene_hgnc_id": 34395,
"hgvs_c": "n.1212A>T",
"hgvs_p": null,
"transcript": "NR_136691.2",
"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": 2008,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM177B",
"gene_hgnc_id": 34395,
"hgvs_c": "n.*569A>T",
"hgvs_p": null,
"transcript": "ENST00000391880.6",
"protein_id": "ENSP00000375752.2",
"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": 1994,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ENSG00000287684",
"gene_hgnc_id": null,
"hgvs_c": "n.287-3113T>A",
"hgvs_p": null,
"transcript": "ENST00000654074.1",
"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": 3827,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ENSG00000287684",
"gene_hgnc_id": null,
"hgvs_c": "n.233+11094T>A",
"hgvs_p": null,
"transcript": "ENST00000827719.1",
"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": 514,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ENSG00000287684",
"gene_hgnc_id": null,
"hgvs_c": "n.279+11094T>A",
"hgvs_p": null,
"transcript": "ENST00000827720.1",
"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": 361,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "FAM177B",
"gene_hgnc_id": 34395,
"dbsnp": "rs6683071",
"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": 0.041036128997802734,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.024,
"revel_prediction": "Benign",
"alphamissense_score": 0.0866,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.79,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -2.368,
"phylop100way_prediction": "Benign",
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000445590.4",
"gene_symbol": "FAM177B",
"hgnc_id": 34395,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.428A>T",
"hgvs_p": "p.Gln143Leu"
},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000654074.1",
"gene_symbol": "ENSG00000287684",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.287-3113T>A",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}