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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: 15-72474708-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=72474708&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 72474708,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_005744.5",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARIH1",
"gene_hgnc_id": 689,
"hgvs_c": "c.69C>T",
"hgvs_p": "p.Gly23Gly",
"transcript": "NM_005744.5",
"protein_id": "NP_005735.2",
"transcript_support_level": null,
"aa_start": 23,
"aa_end": null,
"aa_length": 557,
"cds_start": 69,
"cds_end": null,
"cds_length": 1674,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000379887.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005744.5"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARIH1",
"gene_hgnc_id": 689,
"hgvs_c": "c.69C>T",
"hgvs_p": "p.Gly23Gly",
"transcript": "ENST00000379887.9",
"protein_id": "ENSP00000369217.4",
"transcript_support_level": 1,
"aa_start": 23,
"aa_end": null,
"aa_length": 557,
"cds_start": 69,
"cds_end": null,
"cds_length": 1674,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005744.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000379887.9"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARIH1",
"gene_hgnc_id": 689,
"hgvs_c": "c.69C>T",
"hgvs_p": "p.Gly23Gly",
"transcript": "ENST00000915026.1",
"protein_id": "ENSP00000585085.1",
"transcript_support_level": null,
"aa_start": 23,
"aa_end": null,
"aa_length": 557,
"cds_start": 69,
"cds_end": null,
"cds_length": 1674,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915026.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARIH1",
"gene_hgnc_id": 689,
"hgvs_c": "c.69C>T",
"hgvs_p": "p.Gly23Gly",
"transcript": "ENST00000915024.1",
"protein_id": "ENSP00000585083.1",
"transcript_support_level": null,
"aa_start": 23,
"aa_end": null,
"aa_length": 536,
"cds_start": 69,
"cds_end": null,
"cds_length": 1611,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915024.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARIH1",
"gene_hgnc_id": 689,
"hgvs_c": "c.69C>T",
"hgvs_p": "p.Gly23Gly",
"transcript": "ENST00000954374.1",
"protein_id": "ENSP00000624433.1",
"transcript_support_level": null,
"aa_start": 23,
"aa_end": null,
"aa_length": 525,
"cds_start": 69,
"cds_end": null,
"cds_length": 1578,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954374.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARIH1",
"gene_hgnc_id": 689,
"hgvs_c": "c.69C>T",
"hgvs_p": "p.Gly23Gly",
"transcript": "ENST00000954375.1",
"protein_id": "ENSP00000624434.1",
"transcript_support_level": null,
"aa_start": 23,
"aa_end": null,
"aa_length": 507,
"cds_start": 69,
"cds_end": null,
"cds_length": 1524,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954375.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARIH1",
"gene_hgnc_id": 689,
"hgvs_c": "c.69C>T",
"hgvs_p": "p.Gly23Gly",
"transcript": "ENST00000915027.1",
"protein_id": "ENSP00000585086.1",
"transcript_support_level": null,
"aa_start": 23,
"aa_end": null,
"aa_length": 486,
"cds_start": 69,
"cds_end": null,
"cds_length": 1461,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915027.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARIH1",
"gene_hgnc_id": 689,
"hgvs_c": "c.69C>T",
"hgvs_p": "p.Gly23Gly",
"transcript": "ENST00000891024.1",
"protein_id": "ENSP00000561083.1",
"transcript_support_level": null,
"aa_start": 23,
"aa_end": null,
"aa_length": 476,
"cds_start": 69,
"cds_end": null,
"cds_length": 1431,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891024.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARIH1",
"gene_hgnc_id": 689,
"hgvs_c": "c.69C>T",
"hgvs_p": "p.Gly23Gly",
"transcript": "ENST00000915025.1",
"protein_id": "ENSP00000585084.1",
"transcript_support_level": null,
"aa_start": 23,
"aa_end": null,
"aa_length": 470,
"cds_start": 69,
"cds_end": null,
"cds_length": 1413,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915025.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARIH1",
"gene_hgnc_id": 689,
"hgvs_c": "c.63C>T",
"hgvs_p": "p.Gly21Gly",
"transcript": "ENST00000564062.1",
"protein_id": "ENSP00000454774.1",
"transcript_support_level": 3,
"aa_start": 21,
"aa_end": null,
"aa_length": 202,
"cds_start": 63,
"cds_end": null,
"cds_length": 611,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000564062.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM202-AS1",
"gene_hgnc_id": 53265,
"hgvs_c": "n.461G>A",
"hgvs_p": null,
"transcript": "ENST00000565181.1",
"protein_id": null,
"transcript_support_level": 6,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000565181.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARIH1",
"gene_hgnc_id": 689,
"hgvs_c": "n.69C>T",
"hgvs_p": null,
"transcript": "ENST00000570085.5",
"protein_id": "ENSP00000456746.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000570085.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARIH1",
"gene_hgnc_id": 689,
"hgvs_c": "n.-228C>T",
"hgvs_p": null,
"transcript": "ENST00000567762.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000567762.1"
}
],
"gene_symbol": "ARIH1",
"gene_hgnc_id": 689,
"dbsnp": "rs774567902",
"frequency_reference_population": 0.000017231168,
"hom_count_reference_population": 1,
"allele_count_reference_population": 27,
"gnomad_exomes_af": 0.0000176693,
"gnomad_genomes_af": 0.0000131541,
"gnomad_exomes_ac": 25,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.2800000011920929,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"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": -0.28,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.844,
"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": -9,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6_Moderate,BP7,BS2",
"acmg_by_gene": [
{
"score": -9,
"benign_score": 9,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6_Moderate",
"BP7",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_005744.5",
"gene_symbol": "ARIH1",
"hgnc_id": 689,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.69C>T",
"hgvs_p": "p.Gly23Gly"
},
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000565181.1",
"gene_symbol": "TMEM202-AS1",
"hgnc_id": 53265,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.461G>A",
"hgvs_p": null
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}