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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: 13-19438145-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=19438145&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 19438145,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_199254.3",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPTE2",
"gene_hgnc_id": 17299,
"hgvs_c": "c.982G>A",
"hgvs_p": "p.Gly328Arg",
"transcript": "NM_001395978.1",
"protein_id": "NP_001382907.1",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 522,
"cds_start": 982,
"cds_end": null,
"cds_length": 1569,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000697147.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001395978.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPTE2",
"gene_hgnc_id": 17299,
"hgvs_c": "c.982G>A",
"hgvs_p": "p.Gly328Arg",
"transcript": "ENST00000697147.1",
"protein_id": "ENSP00000513136.1",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 522,
"cds_start": 982,
"cds_end": null,
"cds_length": 1569,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001395978.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000697147.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPTE2",
"gene_hgnc_id": 17299,
"hgvs_c": "c.751G>A",
"hgvs_p": "p.Gly251Arg",
"transcript": "ENST00000390680.2",
"protein_id": "ENSP00000375098.2",
"transcript_support_level": 1,
"aa_start": 251,
"aa_end": null,
"aa_length": 445,
"cds_start": 751,
"cds_end": null,
"cds_length": 1338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000390680.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPTE2",
"gene_hgnc_id": 17299,
"hgvs_c": "c.982G>A",
"hgvs_p": "p.Gly328Arg",
"transcript": "NM_199254.3",
"protein_id": "NP_954863.2",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 522,
"cds_start": 982,
"cds_end": null,
"cds_length": 1569,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_199254.3"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPTE2",
"gene_hgnc_id": 17299,
"hgvs_c": "c.982G>A",
"hgvs_p": "p.Gly328Arg",
"transcript": "ENST00000696858.2",
"protein_id": "ENSP00000512931.1",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 522,
"cds_start": 982,
"cds_end": null,
"cds_length": 1569,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000696858.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPTE2",
"gene_hgnc_id": 17299,
"hgvs_c": "c.982G>A",
"hgvs_p": "p.Gly328Arg",
"transcript": "ENST00000696988.1",
"protein_id": "ENSP00000513024.1",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 522,
"cds_start": 982,
"cds_end": null,
"cds_length": 1569,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000696988.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPTE2",
"gene_hgnc_id": 17299,
"hgvs_c": "c.862G>A",
"hgvs_p": "p.Gly288Arg",
"transcript": "ENST00000382978.5",
"protein_id": "ENSP00000372438.1",
"transcript_support_level": 5,
"aa_start": 288,
"aa_end": null,
"aa_length": 482,
"cds_start": 862,
"cds_end": null,
"cds_length": 1449,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000382978.5"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPTE2",
"gene_hgnc_id": 17299,
"hgvs_c": "c.751G>A",
"hgvs_p": "p.Gly251Arg",
"transcript": "NM_130785.4",
"protein_id": "NP_570141.3",
"transcript_support_level": null,
"aa_start": 251,
"aa_end": null,
"aa_length": 445,
"cds_start": 751,
"cds_end": null,
"cds_length": 1338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_130785.4"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPTE2",
"gene_hgnc_id": 17299,
"hgvs_c": "c.649G>A",
"hgvs_p": "p.Gly217Arg",
"transcript": "NM_001141968.2",
"protein_id": "NP_001135440.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 411,
"cds_start": 649,
"cds_end": null,
"cds_length": 1236,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001141968.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPTE2",
"gene_hgnc_id": 17299,
"hgvs_c": "c.649G>A",
"hgvs_p": "p.Gly217Arg",
"transcript": "ENST00000400103.7",
"protein_id": "ENSP00000382974.2",
"transcript_support_level": 5,
"aa_start": 217,
"aa_end": null,
"aa_length": 411,
"cds_start": 649,
"cds_end": null,
"cds_length": 1236,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000400103.7"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPTE2",
"gene_hgnc_id": 17299,
"hgvs_c": "c.688G>A",
"hgvs_p": "p.Gly230Arg",
"transcript": "ENST00000696857.1",
"protein_id": "ENSP00000512930.1",
"transcript_support_level": null,
"aa_start": 230,
"aa_end": null,
"aa_length": 393,
"cds_start": 688,
"cds_end": null,
"cds_length": 1182,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000696857.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPTE2",
"gene_hgnc_id": 17299,
"hgvs_c": "c.922G>A",
"hgvs_p": "p.Gly308Arg",
"transcript": "ENST00000696860.1",
"protein_id": "ENSP00000512933.1",
"transcript_support_level": null,
"aa_start": 308,
"aa_end": null,
"aa_length": 378,
"cds_start": 922,
"cds_end": null,
"cds_length": 1139,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000696860.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPTE2",
"gene_hgnc_id": 17299,
"hgvs_c": "c.-6G>A",
"hgvs_p": null,
"transcript": "NM_001271850.2",
"protein_id": "NP_001258779.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 193,
"cds_start": null,
"cds_end": null,
"cds_length": 582,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001271850.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPTE2",
"gene_hgnc_id": 17299,
"hgvs_c": "n.589G>A",
"hgvs_p": null,
"transcript": "ENST00000462409.5",
"protein_id": "ENSP00000432402.1",
"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": "ENST00000462409.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPTE2",
"gene_hgnc_id": 17299,
"hgvs_c": "n.982G>A",
"hgvs_p": null,
"transcript": "ENST00000696859.1",
"protein_id": "ENSP00000512932.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000696859.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPTE2",
"gene_hgnc_id": 17299,
"hgvs_c": "n.1305G>A",
"hgvs_p": null,
"transcript": "NR_073485.2",
"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": "NR_073485.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPTE2",
"gene_hgnc_id": 17299,
"hgvs_c": "n.632G>A",
"hgvs_p": null,
"transcript": "NR_073486.1",
"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": "NR_073486.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPTE2",
"gene_hgnc_id": 17299,
"hgvs_c": "n.730G>A",
"hgvs_p": null,
"transcript": "NR_073487.2",
"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": "NR_073487.2"
}
],
"gene_symbol": "TPTE2",
"gene_hgnc_id": 17299,
"dbsnp": "rs142924803",
"frequency_reference_population": 0.0005898295,
"hom_count_reference_population": 0,
"allele_count_reference_population": 948,
"gnomad_exomes_af": 0.000621944,
"gnomad_genomes_af": 0.000282653,
"gnomad_exomes_ac": 905,
"gnomad_genomes_ac": 43,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9518321752548218,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.876,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9617,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.5,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 3.458,
"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": "Uncertain_significance",
"acmg_criteria": "PP3_Strong",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PP3_Strong"
],
"verdict": "Uncertain_significance",
"transcript": "NM_199254.3",
"gene_symbol": "TPTE2",
"hgnc_id": 17299,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.982G>A",
"hgvs_p": "p.Gly328Arg"
}
],
"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
}