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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: 12-61753671-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=61753671&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 61753671,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000416284.8",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAFA2",
"gene_hgnc_id": 21589,
"hgvs_c": "c.335A>G",
"hgvs_p": "p.Asp112Gly",
"transcript": "NM_178539.5",
"protein_id": "NP_848634.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 131,
"cds_start": 335,
"cds_end": null,
"cds_length": 396,
"cdna_start": 1851,
"cdna_end": null,
"cdna_length": 4045,
"mane_select": "ENST00000416284.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAFA2",
"gene_hgnc_id": 21589,
"hgvs_c": "c.335A>G",
"hgvs_p": "p.Asp112Gly",
"transcript": "ENST00000416284.8",
"protein_id": "ENSP00000393987.3",
"transcript_support_level": 1,
"aa_start": 112,
"aa_end": null,
"aa_length": 131,
"cds_start": 335,
"cds_end": null,
"cds_length": 396,
"cdna_start": 1851,
"cdna_end": null,
"cdna_length": 4045,
"mane_select": "NM_178539.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAFA2",
"gene_hgnc_id": 21589,
"hgvs_c": "c.44A>G",
"hgvs_p": "p.Asp15Gly",
"transcript": "ENST00000550003.1",
"protein_id": "ENSP00000449457.1",
"transcript_support_level": 1,
"aa_start": 15,
"aa_end": null,
"aa_length": 34,
"cds_start": 44,
"cds_end": null,
"cds_length": 105,
"cdna_start": 309,
"cdna_end": null,
"cdna_length": 2499,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAFA2",
"gene_hgnc_id": 21589,
"hgvs_c": "n.335A>G",
"hgvs_p": null,
"transcript": "ENST00000549379.5",
"protein_id": "ENSP00000447584.1",
"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": 3252,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAFA2",
"gene_hgnc_id": 21589,
"hgvs_c": "c.335A>G",
"hgvs_p": "p.Asp112Gly",
"transcript": "ENST00000551619.5",
"protein_id": "ENSP00000447305.1",
"transcript_support_level": 2,
"aa_start": 112,
"aa_end": null,
"aa_length": 131,
"cds_start": 335,
"cds_end": null,
"cds_length": 396,
"cdna_start": 525,
"cdna_end": null,
"cdna_length": 2718,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAFA2",
"gene_hgnc_id": 21589,
"hgvs_c": "c.482A>G",
"hgvs_p": "p.Asp161Gly",
"transcript": "XM_024448962.2",
"protein_id": "XP_024304730.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 180,
"cds_start": 482,
"cds_end": null,
"cds_length": 543,
"cdna_start": 972,
"cdna_end": null,
"cdna_length": 3166,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAFA2",
"gene_hgnc_id": 21589,
"hgvs_c": "c.335A>G",
"hgvs_p": "p.Asp112Gly",
"transcript": "XM_024448965.2",
"protein_id": "XP_024304733.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 131,
"cds_start": 335,
"cds_end": null,
"cds_length": 396,
"cdna_start": 667,
"cdna_end": null,
"cdna_length": 2861,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAFA2",
"gene_hgnc_id": 21589,
"hgvs_c": "c.335A>G",
"hgvs_p": "p.Asp112Gly",
"transcript": "XM_024448966.2",
"protein_id": "XP_024304734.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 131,
"cds_start": 335,
"cds_end": null,
"cds_length": 396,
"cdna_start": 474,
"cdna_end": null,
"cdna_length": 2668,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAFA2",
"gene_hgnc_id": 21589,
"hgvs_c": "c.335A>G",
"hgvs_p": "p.Asp112Gly",
"transcript": "XM_047428773.1",
"protein_id": "XP_047284729.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 131,
"cds_start": 335,
"cds_end": null,
"cds_length": 396,
"cdna_start": 1646,
"cdna_end": null,
"cdna_length": 3840,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAFA2",
"gene_hgnc_id": 21589,
"hgvs_c": "c.335A>G",
"hgvs_p": "p.Asp112Gly",
"transcript": "XM_047428774.1",
"protein_id": "XP_047284730.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 131,
"cds_start": 335,
"cds_end": null,
"cds_length": 396,
"cdna_start": 1344,
"cdna_end": null,
"cdna_length": 3538,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TAFA2",
"gene_hgnc_id": 21589,
"hgvs_c": "c.107-43254A>G",
"hgvs_p": null,
"transcript": "ENST00000551449.1",
"protein_id": "ENSP00000449632.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 49,
"cds_start": -4,
"cds_end": null,
"cds_length": 150,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 580,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAFA2",
"gene_hgnc_id": 21589,
"hgvs_c": "c.*7A>G",
"hgvs_p": null,
"transcript": "ENST00000552075.5",
"protein_id": "ENSP00000449516.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 109,
"cds_start": -4,
"cds_end": null,
"cds_length": 331,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 570,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAFA2",
"gene_hgnc_id": 21589,
"hgvs_c": "c.*53A>G",
"hgvs_p": null,
"transcript": "ENST00000549958.5",
"protein_id": "ENSP00000447280.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 100,
"cds_start": -4,
"cds_end": null,
"cds_length": 303,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 468,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "TAFA2",
"gene_hgnc_id": 21589,
"dbsnp": "rs139053149",
"frequency_reference_population": 0.00016805764,
"hom_count_reference_population": 0,
"allele_count_reference_population": 271,
"gnomad_exomes_af": 0.000173919,
"gnomad_genomes_af": 0.000111773,
"gnomad_exomes_ac": 254,
"gnomad_genomes_ac": 17,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8599783182144165,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.534,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.886,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.37,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.877,
"phylop100way_prediction": "Pathogenic",
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3_Moderate",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000416284.8",
"gene_symbol": "TAFA2",
"hgnc_id": 21589,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.335A>G",
"hgvs_p": "p.Asp112Gly"
}
],
"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
}