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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: 12-105111221-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=105111221&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 105111221,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001293640.2",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WASHC4",
"gene_hgnc_id": 29174,
"hgvs_c": "c.158T>C",
"hgvs_p": "p.Ile53Thr",
"transcript": "NM_015275.3",
"protein_id": "NP_056090.1",
"transcript_support_level": null,
"aa_start": 53,
"aa_end": null,
"aa_length": 1173,
"cds_start": 158,
"cds_end": null,
"cds_length": 3522,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000332180.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015275.3"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WASHC4",
"gene_hgnc_id": 29174,
"hgvs_c": "c.158T>C",
"hgvs_p": "p.Ile53Thr",
"transcript": "ENST00000332180.10",
"protein_id": "ENSP00000328062.6",
"transcript_support_level": 1,
"aa_start": 53,
"aa_end": null,
"aa_length": 1173,
"cds_start": 158,
"cds_end": null,
"cds_length": 3522,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_015275.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000332180.10"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WASHC4",
"gene_hgnc_id": 29174,
"hgvs_c": "c.158T>C",
"hgvs_p": "p.Ile53Thr",
"transcript": "ENST00000620430.5",
"protein_id": "ENSP00000484713.1",
"transcript_support_level": 1,
"aa_start": 53,
"aa_end": null,
"aa_length": 1174,
"cds_start": 158,
"cds_end": null,
"cds_length": 3525,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000620430.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WASHC4",
"gene_hgnc_id": 29174,
"hgvs_c": "c.-224T>C",
"hgvs_p": null,
"transcript": "ENST00000548195.5",
"protein_id": "ENSP00000450243.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 40,
"cds_start": null,
"cds_end": null,
"cds_length": 125,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000548195.5"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WASHC4",
"gene_hgnc_id": 29174,
"hgvs_c": "c.158T>C",
"hgvs_p": "p.Ile53Thr",
"transcript": "ENST00000934676.1",
"protein_id": "ENSP00000604735.1",
"transcript_support_level": null,
"aa_start": 53,
"aa_end": null,
"aa_length": 1179,
"cds_start": 158,
"cds_end": null,
"cds_length": 3540,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934676.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WASHC4",
"gene_hgnc_id": 29174,
"hgvs_c": "c.158T>C",
"hgvs_p": "p.Ile53Thr",
"transcript": "NM_001293640.2",
"protein_id": "NP_001280569.1",
"transcript_support_level": null,
"aa_start": 53,
"aa_end": null,
"aa_length": 1174,
"cds_start": 158,
"cds_end": null,
"cds_length": 3525,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001293640.2"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WASHC4",
"gene_hgnc_id": 29174,
"hgvs_c": "c.158T>C",
"hgvs_p": "p.Ile53Thr",
"transcript": "ENST00000890188.1",
"protein_id": "ENSP00000560247.1",
"transcript_support_level": null,
"aa_start": 53,
"aa_end": null,
"aa_length": 1172,
"cds_start": 158,
"cds_end": null,
"cds_length": 3519,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890188.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WASHC4",
"gene_hgnc_id": 29174,
"hgvs_c": "c.158T>C",
"hgvs_p": "p.Ile53Thr",
"transcript": "ENST00000934675.1",
"protein_id": "ENSP00000604734.1",
"transcript_support_level": null,
"aa_start": 53,
"aa_end": null,
"aa_length": 1150,
"cds_start": 158,
"cds_end": null,
"cds_length": 3453,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934675.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WASHC4",
"gene_hgnc_id": 29174,
"hgvs_c": "c.158T>C",
"hgvs_p": "p.Ile53Thr",
"transcript": "ENST00000934677.1",
"protein_id": "ENSP00000604736.1",
"transcript_support_level": null,
"aa_start": 53,
"aa_end": null,
"aa_length": 1131,
"cds_start": 158,
"cds_end": null,
"cds_length": 3396,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934677.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WASHC4",
"gene_hgnc_id": 29174,
"hgvs_c": "c.158T>C",
"hgvs_p": "p.Ile53Thr",
"transcript": "ENST00000890187.1",
"protein_id": "ENSP00000560246.1",
"transcript_support_level": null,
"aa_start": 53,
"aa_end": null,
"aa_length": 1128,
"cds_start": 158,
"cds_end": null,
"cds_length": 3387,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890187.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WASHC4",
"gene_hgnc_id": 29174,
"hgvs_c": "c.158T>C",
"hgvs_p": "p.Ile53Thr",
"transcript": "XM_011538073.4",
"protein_id": "XP_011536375.1",
"transcript_support_level": null,
"aa_start": 53,
"aa_end": null,
"aa_length": 1128,
"cds_start": 158,
"cds_end": null,
"cds_length": 3387,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011538073.4"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WASHC4",
"gene_hgnc_id": 29174,
"hgvs_c": "c.158T>C",
"hgvs_p": "p.Ile53Thr",
"transcript": "XM_047428592.1",
"protein_id": "XP_047284548.1",
"transcript_support_level": null,
"aa_start": 53,
"aa_end": null,
"aa_length": 944,
"cds_start": 158,
"cds_end": null,
"cds_length": 2835,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428592.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WASHC4",
"gene_hgnc_id": 29174,
"hgvs_c": "c.158T>C",
"hgvs_p": "p.Ile53Thr",
"transcript": "XM_017019082.3",
"protein_id": "XP_016874571.1",
"transcript_support_level": null,
"aa_start": 53,
"aa_end": null,
"aa_length": 941,
"cds_start": 158,
"cds_end": null,
"cds_length": 2826,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017019082.3"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WASHC4",
"gene_hgnc_id": 29174,
"hgvs_c": "c.158T>C",
"hgvs_p": "p.Ile53Thr",
"transcript": "XM_047428593.1",
"protein_id": "XP_047284549.1",
"transcript_support_level": null,
"aa_start": 53,
"aa_end": null,
"aa_length": 928,
"cds_start": 158,
"cds_end": null,
"cds_length": 2787,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428593.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WASHC4",
"gene_hgnc_id": 29174,
"hgvs_c": "c.-224T>C",
"hgvs_p": null,
"transcript": "ENST00000548195.5",
"protein_id": "ENSP00000450243.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 40,
"cds_start": null,
"cds_end": null,
"cds_length": 125,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000548195.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WASHC4",
"gene_hgnc_id": 29174,
"hgvs_c": "n.245T>C",
"hgvs_p": null,
"transcript": "ENST00000311317.8",
"protein_id": null,
"transcript_support_level": 2,
"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": "retained_intron",
"feature": "ENST00000311317.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WASHC4",
"gene_hgnc_id": 29174,
"hgvs_c": "n.158T>C",
"hgvs_p": null,
"transcript": "ENST00000550053.5",
"protein_id": "ENSP00000448966.1",
"transcript_support_level": 5,
"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": "ENST00000550053.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WASHC4",
"gene_hgnc_id": 29174,
"hgvs_c": "n.228T>C",
"hgvs_p": null,
"transcript": "XR_007063060.1",
"protein_id": null,
"transcript_support_level": null,
"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": "XR_007063060.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "WASHC4",
"gene_hgnc_id": 29174,
"hgvs_c": "n.-180-2995T>C",
"hgvs_p": null,
"transcript": "ENST00000547404.1",
"protein_id": "ENSP00000473263.1",
"transcript_support_level": 5,
"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": "ENST00000547404.1"
}
],
"gene_symbol": "WASHC4",
"gene_hgnc_id": 29174,
"dbsnp": "rs777596923",
"frequency_reference_population": 0.0000068309237,
"hom_count_reference_population": 0,
"allele_count_reference_population": 11,
"gnomad_exomes_af": 0.00000685806,
"gnomad_genomes_af": 0.00000657091,
"gnomad_exomes_ac": 10,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.3725484609603882,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.142,
"revel_prediction": "Benign",
"alphamissense_score": 0.094,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.27,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.86,
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001293640.2",
"gene_symbol": "WASHC4",
"hgnc_id": 29174,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,Unknown",
"hgvs_c": "c.158T>C",
"hgvs_p": "p.Ile53Thr"
}
],
"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
}