← Back to variant description
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: 2-227699117-GA-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=227699117&ref=GA&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 227699117,
"ref": "GA",
"alt": "G",
"effect": "frameshift_variant",
"transcript": "ENST00000644224.2",
"consequences": [
{
"aa_ref": "F",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC19A3",
"gene_hgnc_id": 16266,
"hgvs_c": "c.597delT",
"hgvs_p": "p.His200fs",
"transcript": "NM_025243.4",
"protein_id": "NP_079519.1",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 496,
"cds_start": 597,
"cds_end": null,
"cds_length": 1491,
"cdna_start": 685,
"cdna_end": null,
"cdna_length": 5213,
"mane_select": "ENST00000644224.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC19A3",
"gene_hgnc_id": 16266,
"hgvs_c": "c.597delT",
"hgvs_p": "p.His200fs",
"transcript": "ENST00000644224.2",
"protein_id": "ENSP00000495385.1",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 496,
"cds_start": 597,
"cds_end": null,
"cds_length": 1491,
"cdna_start": 685,
"cdna_end": null,
"cdna_length": 5213,
"mane_select": "NM_025243.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC19A3",
"gene_hgnc_id": 16266,
"hgvs_c": "c.597delT",
"hgvs_p": "p.His200fs",
"transcript": "ENST00000258403.8",
"protein_id": "ENSP00000258403.3",
"transcript_support_level": 1,
"aa_start": 199,
"aa_end": null,
"aa_length": 496,
"cds_start": 597,
"cds_end": null,
"cds_length": 1491,
"cdna_start": 763,
"cdna_end": null,
"cdna_length": 3183,
"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": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC19A3",
"gene_hgnc_id": 16266,
"hgvs_c": "n.*622delT",
"hgvs_p": null,
"transcript": "ENST00000425817.6",
"protein_id": "ENSP00000397393.2",
"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": 2761,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC19A3",
"gene_hgnc_id": 16266,
"hgvs_c": "n.*622delT",
"hgvs_p": null,
"transcript": "ENST00000425817.6",
"protein_id": "ENSP00000397393.2",
"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": 2761,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC19A3",
"gene_hgnc_id": 16266,
"hgvs_c": "c.633delT",
"hgvs_p": "p.His212fs",
"transcript": "ENST00000646591.1",
"protein_id": "ENSP00000496701.1",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 508,
"cds_start": 633,
"cds_end": null,
"cds_length": 1527,
"cdna_start": 941,
"cdna_end": null,
"cdna_length": 2397,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC19A3",
"gene_hgnc_id": 16266,
"hgvs_c": "c.597delT",
"hgvs_p": "p.His200fs",
"transcript": "NM_001371411.1",
"protein_id": "NP_001358340.1",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 496,
"cds_start": 597,
"cds_end": null,
"cds_length": 1491,
"cdna_start": 775,
"cdna_end": null,
"cdna_length": 5303,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC19A3",
"gene_hgnc_id": 16266,
"hgvs_c": "c.597delT",
"hgvs_p": "p.His200fs",
"transcript": "NM_001371412.1",
"protein_id": "NP_001358341.1",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 496,
"cds_start": 597,
"cds_end": null,
"cds_length": 1491,
"cdna_start": 941,
"cdna_end": null,
"cdna_length": 5469,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC19A3",
"gene_hgnc_id": 16266,
"hgvs_c": "c.585delT",
"hgvs_p": "p.His196fs",
"transcript": "NM_001371413.1",
"protein_id": "NP_001358342.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 492,
"cds_start": 585,
"cds_end": null,
"cds_length": 1479,
"cdna_start": 881,
"cdna_end": null,
"cdna_length": 5409,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC19A3",
"gene_hgnc_id": 16266,
"hgvs_c": "c.585delT",
"hgvs_p": "p.His196fs",
"transcript": "NM_001371414.1",
"protein_id": "NP_001358343.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 492,
"cds_start": 585,
"cds_end": null,
"cds_length": 1479,
"cdna_start": 1260,
"cdna_end": null,
"cdna_length": 5788,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC19A3",
"gene_hgnc_id": 16266,
"hgvs_c": "c.633delT",
"hgvs_p": "p.His212fs",
"transcript": "XM_047445927.1",
"protein_id": "XP_047301883.1",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 508,
"cds_start": 633,
"cds_end": null,
"cds_length": 1527,
"cdna_start": 1114,
"cdna_end": null,
"cdna_length": 5642,
"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": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC19A3",
"gene_hgnc_id": 16266,
"hgvs_c": "n.*622delT",
"hgvs_p": null,
"transcript": "ENST00000431622.6",
"protein_id": "ENSP00000400627.1",
"transcript_support_level": 4,
"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": 2593,
"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": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC19A3",
"gene_hgnc_id": 16266,
"hgvs_c": "n.787delT",
"hgvs_p": null,
"transcript": "ENST00000642268.1",
"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": 1643,
"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": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC19A3",
"gene_hgnc_id": 16266,
"hgvs_c": "n.282delT",
"hgvs_p": null,
"transcript": "ENST00000645923.1",
"protein_id": "ENSP00000495010.1",
"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": 3209,
"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": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC19A3",
"gene_hgnc_id": 16266,
"hgvs_c": "n.327delT",
"hgvs_p": null,
"transcript": "ENST00000676066.1",
"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": 2938,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC19A3",
"gene_hgnc_id": 16266,
"hgvs_c": "n.*622delT",
"hgvs_p": null,
"transcript": "ENST00000431622.6",
"protein_id": "ENSP00000400627.1",
"transcript_support_level": 4,
"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": 2593,
"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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SLC19A3",
"gene_hgnc_id": 16266,
"hgvs_c": "c.259+338delT",
"hgvs_p": null,
"transcript": "ENST00000409287.5",
"protein_id": "ENSP00000386298.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 92,
"cds_start": -4,
"cds_end": null,
"cds_length": 279,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 644,
"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": 1,
"intron_rank_end": null,
"gene_symbol": "SLC19A3",
"gene_hgnc_id": 16266,
"hgvs_c": "n.151-272delT",
"hgvs_p": null,
"transcript": "ENST00000645700.1",
"protein_id": "ENSP00000495372.1",
"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": 659,
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SLC19A3",
"gene_hgnc_id": 16266,
"hgvs_c": "n.151-3037delT",
"hgvs_p": null,
"transcript": "ENST00000647113.1",
"protein_id": "ENSP00000494966.1",
"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": 2851,
"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": "SLC19A3",
"gene_hgnc_id": 16266,
"hgvs_c": "c.*86delT",
"hgvs_p": null,
"transcript": "ENST00000456524.6",
"protein_id": "ENSP00000399001.2",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 228,
"cds_start": -4,
"cds_end": null,
"cds_length": 688,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 790,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SLC19A3",
"gene_hgnc_id": 16266,
"dbsnp": "rs773140674",
"frequency_reference_population": 0.000006567972,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.00000656797,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 1.272,
"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": 18,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 18,
"benign_score": 0,
"pathogenic_score": 18,
"criteria": [
"PVS1",
"PM2",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000644224.2",
"gene_symbol": "SLC19A3",
"hgnc_id": 16266,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.597delT",
"hgvs_p": "p.His200fs"
}
],
"clinvar_disease": "Biotin-responsive basal ganglia disease",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1",
"phenotype_combined": "Biotin-responsive basal ganglia disease",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}