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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: 12-69574737-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=69574737&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 69574737,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000549921.6",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRS2",
"gene_hgnc_id": 16971,
"hgvs_c": "c.1309A>G",
"hgvs_p": "p.Ile437Val",
"transcript": "NM_001278356.2",
"protein_id": "NP_001265285.1",
"transcript_support_level": null,
"aa_start": 437,
"aa_end": null,
"aa_length": 508,
"cds_start": 1309,
"cds_end": null,
"cds_length": 1527,
"cdna_start": 1712,
"cdna_end": null,
"cdna_length": 6768,
"mane_select": "ENST00000549921.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRS2",
"gene_hgnc_id": 16971,
"hgvs_c": "c.1309A>G",
"hgvs_p": "p.Ile437Val",
"transcript": "ENST00000549921.6",
"protein_id": "ENSP00000450048.1",
"transcript_support_level": 1,
"aa_start": 437,
"aa_end": null,
"aa_length": 508,
"cds_start": 1309,
"cds_end": null,
"cds_length": 1527,
"cdna_start": 1712,
"cdna_end": null,
"cdna_length": 6768,
"mane_select": "NM_001278356.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRS2",
"gene_hgnc_id": 16971,
"hgvs_c": "c.1309A>G",
"hgvs_p": "p.Ile437Val",
"transcript": "ENST00000550389.5",
"protein_id": "ENSP00000447241.1",
"transcript_support_level": 1,
"aa_start": 437,
"aa_end": null,
"aa_length": 508,
"cds_start": 1309,
"cds_end": null,
"cds_length": 1527,
"cdna_start": 1555,
"cdna_end": null,
"cdna_length": 6600,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRS2",
"gene_hgnc_id": 16971,
"hgvs_c": "c.1309A>G",
"hgvs_p": "p.Ile437Val",
"transcript": "NM_001042555.3",
"protein_id": "NP_001036020.1",
"transcript_support_level": null,
"aa_start": 437,
"aa_end": null,
"aa_length": 508,
"cds_start": 1309,
"cds_end": null,
"cds_length": 1527,
"cdna_start": 1773,
"cdna_end": null,
"cdna_length": 6829,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRS2",
"gene_hgnc_id": 16971,
"hgvs_c": "c.1309A>G",
"hgvs_p": "p.Ile437Val",
"transcript": "NM_001278351.2",
"protein_id": "NP_001265280.1",
"transcript_support_level": null,
"aa_start": 437,
"aa_end": null,
"aa_length": 508,
"cds_start": 1309,
"cds_end": null,
"cds_length": 1527,
"cdna_start": 1894,
"cdna_end": null,
"cdna_length": 6950,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRS2",
"gene_hgnc_id": 16971,
"hgvs_c": "c.1309A>G",
"hgvs_p": "p.Ile437Val",
"transcript": "NM_001278353.2",
"protein_id": "NP_001265282.1",
"transcript_support_level": null,
"aa_start": 437,
"aa_end": null,
"aa_length": 508,
"cds_start": 1309,
"cds_end": null,
"cds_length": 1527,
"cdna_start": 1837,
"cdna_end": null,
"cdna_length": 6893,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRS2",
"gene_hgnc_id": 16971,
"hgvs_c": "c.1309A>G",
"hgvs_p": "p.Ile437Val",
"transcript": "NM_001278354.2",
"protein_id": "NP_001265283.1",
"transcript_support_level": null,
"aa_start": 437,
"aa_end": null,
"aa_length": 508,
"cds_start": 1309,
"cds_end": null,
"cds_length": 1527,
"cdna_start": 1826,
"cdna_end": null,
"cdna_length": 6882,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRS2",
"gene_hgnc_id": 16971,
"hgvs_c": "c.1309A>G",
"hgvs_p": "p.Ile437Val",
"transcript": "NM_001278355.2",
"protein_id": "NP_001265284.1",
"transcript_support_level": null,
"aa_start": 437,
"aa_end": null,
"aa_length": 508,
"cds_start": 1309,
"cds_end": null,
"cds_length": 1527,
"cdna_start": 1808,
"cdna_end": null,
"cdna_length": 6864,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRS2",
"gene_hgnc_id": 16971,
"hgvs_c": "c.1309A>G",
"hgvs_p": "p.Ile437Val",
"transcript": "NM_001278357.2",
"protein_id": "NP_001265286.1",
"transcript_support_level": null,
"aa_start": 437,
"aa_end": null,
"aa_length": 508,
"cds_start": 1309,
"cds_end": null,
"cds_length": 1527,
"cdna_start": 1573,
"cdna_end": null,
"cdna_length": 6629,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRS2",
"gene_hgnc_id": 16971,
"hgvs_c": "c.1309A>G",
"hgvs_p": "p.Ile437Val",
"transcript": "NM_006654.5",
"protein_id": "NP_006645.3",
"transcript_support_level": null,
"aa_start": 437,
"aa_end": null,
"aa_length": 508,
"cds_start": 1309,
"cds_end": null,
"cds_length": 1527,
"cdna_start": 1780,
"cdna_end": null,
"cdna_length": 6836,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRS2",
"gene_hgnc_id": 16971,
"hgvs_c": "c.1309A>G",
"hgvs_p": "p.Ile437Val",
"transcript": "ENST00000397997.6",
"protein_id": "ENSP00000381083.2",
"transcript_support_level": 5,
"aa_start": 437,
"aa_end": null,
"aa_length": 508,
"cds_start": 1309,
"cds_end": null,
"cds_length": 1527,
"cdna_start": 1498,
"cdna_end": null,
"cdna_length": 6550,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRS2",
"gene_hgnc_id": 16971,
"hgvs_c": "c.1309A>G",
"hgvs_p": "p.Ile437Val",
"transcript": "XM_017018717.2",
"protein_id": "XP_016874206.1",
"transcript_support_level": null,
"aa_start": 437,
"aa_end": null,
"aa_length": 508,
"cds_start": 1309,
"cds_end": null,
"cds_length": 1527,
"cdna_start": 1882,
"cdna_end": null,
"cdna_length": 6938,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRS2",
"gene_hgnc_id": 16971,
"hgvs_c": "c.1309A>G",
"hgvs_p": "p.Ile437Val",
"transcript": "XM_017018718.2",
"protein_id": "XP_016874207.1",
"transcript_support_level": null,
"aa_start": 437,
"aa_end": null,
"aa_length": 508,
"cds_start": 1309,
"cds_end": null,
"cds_length": 1527,
"cdna_start": 1876,
"cdna_end": null,
"cdna_length": 6932,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"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": "FRS2",
"gene_hgnc_id": 16971,
"hgvs_c": "c.1309A>G",
"hgvs_p": "p.Ile437Val",
"transcript": "XM_017018719.2",
"protein_id": "XP_016874208.1",
"transcript_support_level": null,
"aa_start": 437,
"aa_end": null,
"aa_length": 508,
"cds_start": 1309,
"cds_end": null,
"cds_length": 1527,
"cdna_start": 3718,
"cdna_end": null,
"cdna_length": 8774,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRS2",
"gene_hgnc_id": 16971,
"hgvs_c": "c.1309A>G",
"hgvs_p": "p.Ile437Val",
"transcript": "XM_047428118.1",
"protein_id": "XP_047284074.1",
"transcript_support_level": null,
"aa_start": 437,
"aa_end": null,
"aa_length": 508,
"cds_start": 1309,
"cds_end": null,
"cds_length": 1527,
"cdna_start": 1769,
"cdna_end": null,
"cdna_length": 6825,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRS2",
"gene_hgnc_id": 16971,
"hgvs_c": "c.1309A>G",
"hgvs_p": "p.Ile437Val",
"transcript": "XM_047428119.1",
"protein_id": "XP_047284075.1",
"transcript_support_level": null,
"aa_start": 437,
"aa_end": null,
"aa_length": 508,
"cds_start": 1309,
"cds_end": null,
"cds_length": 1527,
"cdna_start": 4985,
"cdna_end": null,
"cdna_length": 10041,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRS2",
"gene_hgnc_id": 16971,
"hgvs_c": "c.1309A>G",
"hgvs_p": "p.Ile437Val",
"transcript": "XM_047428120.1",
"protein_id": "XP_047284076.1",
"transcript_support_level": null,
"aa_start": 437,
"aa_end": null,
"aa_length": 508,
"cds_start": 1309,
"cds_end": null,
"cds_length": 1527,
"cdna_start": 4569,
"cdna_end": null,
"cdna_length": 9625,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRS2",
"gene_hgnc_id": 16971,
"hgvs_c": "c.1309A>G",
"hgvs_p": "p.Ile437Val",
"transcript": "XM_047428121.1",
"protein_id": "XP_047284077.1",
"transcript_support_level": null,
"aa_start": 437,
"aa_end": null,
"aa_length": 508,
"cds_start": 1309,
"cds_end": null,
"cds_length": 1527,
"cdna_start": 1719,
"cdna_end": null,
"cdna_length": 6775,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRS2",
"gene_hgnc_id": 16971,
"hgvs_c": "c.1309A>G",
"hgvs_p": "p.Ile437Val",
"transcript": "XM_047428122.1",
"protein_id": "XP_047284078.1",
"transcript_support_level": null,
"aa_start": 437,
"aa_end": null,
"aa_length": 508,
"cds_start": 1309,
"cds_end": null,
"cds_length": 1527,
"cdna_start": 1587,
"cdna_end": null,
"cdna_length": 6643,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRS2",
"gene_hgnc_id": 16971,
"hgvs_c": "c.1309A>G",
"hgvs_p": "p.Ile437Val",
"transcript": "XM_047428123.1",
"protein_id": "XP_047284079.1",
"transcript_support_level": null,
"aa_start": 437,
"aa_end": null,
"aa_length": 508,
"cds_start": 1309,
"cds_end": null,
"cds_length": 1527,
"cdna_start": 1952,
"cdna_end": null,
"cdna_length": 7008,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "FRS2",
"gene_hgnc_id": 16971,
"dbsnp": "rs777663604",
"frequency_reference_population": 0.0000034202674,
"hom_count_reference_population": 0,
"allele_count_reference_population": 5,
"gnomad_exomes_af": 0.00000342027,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 5,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.42240801453590393,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.192,
"revel_prediction": "Benign",
"alphamissense_score": 0.4612,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.26,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 9.325,
"phylop100way_prediction": "Pathogenic",
"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": -3,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4,BS2",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 5,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "ENST00000549921.6",
"gene_symbol": "FRS2",
"hgnc_id": 16971,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1309A>G",
"hgvs_p": "p.Ile437Val"
}
],
"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
}