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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: 12-61867337-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=61867337&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 61867337,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000416284.8",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAFA2",
"gene_hgnc_id": 21589,
"hgvs_c": "c.89G>T",
"hgvs_p": "p.Ser30Ile",
"transcript": "NM_178539.5",
"protein_id": "NP_848634.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 131,
"cds_start": 89,
"cds_end": null,
"cds_length": 396,
"cdna_start": 1605,
"cdna_end": null,
"cdna_length": 4045,
"mane_select": "ENST00000416284.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAFA2",
"gene_hgnc_id": 21589,
"hgvs_c": "c.89G>T",
"hgvs_p": "p.Ser30Ile",
"transcript": "ENST00000416284.8",
"protein_id": "ENSP00000393987.3",
"transcript_support_level": 1,
"aa_start": 30,
"aa_end": null,
"aa_length": 131,
"cds_start": 89,
"cds_end": null,
"cds_length": 396,
"cdna_start": 1605,
"cdna_end": null,
"cdna_length": 4045,
"mane_select": "NM_178539.5",
"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": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAFA2",
"gene_hgnc_id": 21589,
"hgvs_c": "n.89G>T",
"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": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAFA2",
"gene_hgnc_id": 21589,
"hgvs_c": "c.89G>T",
"hgvs_p": "p.Ser30Ile",
"transcript": "ENST00000551619.5",
"protein_id": "ENSP00000447305.1",
"transcript_support_level": 2,
"aa_start": 30,
"aa_end": null,
"aa_length": 131,
"cds_start": 89,
"cds_end": null,
"cds_length": 396,
"cdna_start": 279,
"cdna_end": null,
"cdna_length": 2718,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAFA2",
"gene_hgnc_id": 21589,
"hgvs_c": "c.92G>T",
"hgvs_p": "p.Ser31Ile",
"transcript": "ENST00000552075.5",
"protein_id": "ENSP00000449516.1",
"transcript_support_level": 4,
"aa_start": 31,
"aa_end": null,
"aa_length": 109,
"cds_start": 92,
"cds_end": null,
"cds_length": 331,
"cdna_start": 331,
"cdna_end": null,
"cdna_length": 570,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAFA2",
"gene_hgnc_id": 21589,
"hgvs_c": "c.110G>T",
"hgvs_p": "p.Ser37Ile",
"transcript": "ENST00000549958.5",
"protein_id": "ENSP00000447280.1",
"transcript_support_level": 5,
"aa_start": 37,
"aa_end": null,
"aa_length": 100,
"cds_start": 110,
"cds_end": null,
"cds_length": 303,
"cdna_start": 275,
"cdna_end": null,
"cdna_length": 468,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "I",
"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.92G>T",
"hgvs_p": "p.Ser31Ile",
"transcript": "ENST00000548780.1",
"protein_id": "ENSP00000449310.1",
"transcript_support_level": 4,
"aa_start": 31,
"aa_end": null,
"aa_length": 86,
"cds_start": 92,
"cds_end": null,
"cds_length": 262,
"cdna_start": 385,
"cdna_end": null,
"cdna_length": 555,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAFA2",
"gene_hgnc_id": 21589,
"hgvs_c": "c.89G>T",
"hgvs_p": "p.Ser30Ile",
"transcript": "ENST00000551449.1",
"protein_id": "ENSP00000449632.1",
"transcript_support_level": 4,
"aa_start": 30,
"aa_end": null,
"aa_length": 49,
"cds_start": 89,
"cds_end": null,
"cds_length": 150,
"cdna_start": 268,
"cdna_end": null,
"cdna_length": 580,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAFA2",
"gene_hgnc_id": 21589,
"hgvs_c": "c.236G>T",
"hgvs_p": "p.Ser79Ile",
"transcript": "XM_024448962.2",
"protein_id": "XP_024304730.1",
"transcript_support_level": null,
"aa_start": 79,
"aa_end": null,
"aa_length": 180,
"cds_start": 236,
"cds_end": null,
"cds_length": 543,
"cdna_start": 726,
"cdna_end": null,
"cdna_length": 3166,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAFA2",
"gene_hgnc_id": 21589,
"hgvs_c": "c.89G>T",
"hgvs_p": "p.Ser30Ile",
"transcript": "XM_024448965.2",
"protein_id": "XP_024304733.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 131,
"cds_start": 89,
"cds_end": null,
"cds_length": 396,
"cdna_start": 421,
"cdna_end": null,
"cdna_length": 2861,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAFA2",
"gene_hgnc_id": 21589,
"hgvs_c": "c.89G>T",
"hgvs_p": "p.Ser30Ile",
"transcript": "XM_024448966.2",
"protein_id": "XP_024304734.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 131,
"cds_start": 89,
"cds_end": null,
"cds_length": 396,
"cdna_start": 228,
"cdna_end": null,
"cdna_length": 2668,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAFA2",
"gene_hgnc_id": 21589,
"hgvs_c": "c.89G>T",
"hgvs_p": "p.Ser30Ile",
"transcript": "XM_047428773.1",
"protein_id": "XP_047284729.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 131,
"cds_start": 89,
"cds_end": null,
"cds_length": 396,
"cdna_start": 1400,
"cdna_end": null,
"cdna_length": 3840,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAFA2",
"gene_hgnc_id": 21589,
"hgvs_c": "c.89G>T",
"hgvs_p": "p.Ser30Ile",
"transcript": "XM_047428774.1",
"protein_id": "XP_047284730.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 131,
"cds_start": 89,
"cds_end": null,
"cds_length": 396,
"cdna_start": 1098,
"cdna_end": null,
"cdna_length": 3538,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "TAFA2",
"gene_hgnc_id": 21589,
"dbsnp": "rs181558760",
"frequency_reference_population": 0.000016898595,
"hom_count_reference_population": 0,
"allele_count_reference_population": 27,
"gnomad_exomes_af": 0.0000152081,
"gnomad_genomes_af": 0.0000330762,
"gnomad_exomes_ac": 22,
"gnomad_genomes_ac": 5,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.06235295534133911,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.092,
"revel_prediction": "Benign",
"alphamissense_score": 0.1096,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.31,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.01,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000416284.8",
"gene_symbol": "TAFA2",
"hgnc_id": 21589,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.89G>T",
"hgvs_p": "p.Ser30Ile"
}
],
"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
}