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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: 13-19430469-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=19430469&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 19430469,
"ref": "G",
"alt": "C",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_199254.3",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPTE2",
"gene_hgnc_id": 17299,
"hgvs_c": "c.1301C>G",
"hgvs_p": "p.Ser434Trp",
"transcript": "NM_001395978.1",
"protein_id": "NP_001382907.1",
"transcript_support_level": null,
"aa_start": 434,
"aa_end": null,
"aa_length": 522,
"cds_start": 1301,
"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": "S",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPTE2",
"gene_hgnc_id": 17299,
"hgvs_c": "c.1301C>G",
"hgvs_p": "p.Ser434Trp",
"transcript": "ENST00000697147.1",
"protein_id": "ENSP00000513136.1",
"transcript_support_level": null,
"aa_start": 434,
"aa_end": null,
"aa_length": 522,
"cds_start": 1301,
"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": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPTE2",
"gene_hgnc_id": 17299,
"hgvs_c": "c.1070C>G",
"hgvs_p": "p.Ser357Trp",
"transcript": "ENST00000390680.2",
"protein_id": "ENSP00000375098.2",
"transcript_support_level": 1,
"aa_start": 357,
"aa_end": null,
"aa_length": 445,
"cds_start": 1070,
"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": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPTE2",
"gene_hgnc_id": 17299,
"hgvs_c": "c.1301C>G",
"hgvs_p": "p.Ser434Trp",
"transcript": "NM_199254.3",
"protein_id": "NP_954863.2",
"transcript_support_level": null,
"aa_start": 434,
"aa_end": null,
"aa_length": 522,
"cds_start": 1301,
"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": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPTE2",
"gene_hgnc_id": 17299,
"hgvs_c": "c.1301C>G",
"hgvs_p": "p.Ser434Trp",
"transcript": "ENST00000696858.2",
"protein_id": "ENSP00000512931.1",
"transcript_support_level": null,
"aa_start": 434,
"aa_end": null,
"aa_length": 522,
"cds_start": 1301,
"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": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPTE2",
"gene_hgnc_id": 17299,
"hgvs_c": "c.1301C>G",
"hgvs_p": "p.Ser434Trp",
"transcript": "ENST00000696988.1",
"protein_id": "ENSP00000513024.1",
"transcript_support_level": null,
"aa_start": 434,
"aa_end": null,
"aa_length": 522,
"cds_start": 1301,
"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": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPTE2",
"gene_hgnc_id": 17299,
"hgvs_c": "c.1181C>G",
"hgvs_p": "p.Ser394Trp",
"transcript": "ENST00000382978.5",
"protein_id": "ENSP00000372438.1",
"transcript_support_level": 5,
"aa_start": 394,
"aa_end": null,
"aa_length": 482,
"cds_start": 1181,
"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": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPTE2",
"gene_hgnc_id": 17299,
"hgvs_c": "c.1070C>G",
"hgvs_p": "p.Ser357Trp",
"transcript": "NM_130785.4",
"protein_id": "NP_570141.3",
"transcript_support_level": null,
"aa_start": 357,
"aa_end": null,
"aa_length": 445,
"cds_start": 1070,
"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": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPTE2",
"gene_hgnc_id": 17299,
"hgvs_c": "c.968C>G",
"hgvs_p": "p.Ser323Trp",
"transcript": "NM_001141968.2",
"protein_id": "NP_001135440.1",
"transcript_support_level": null,
"aa_start": 323,
"aa_end": null,
"aa_length": 411,
"cds_start": 968,
"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": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPTE2",
"gene_hgnc_id": 17299,
"hgvs_c": "c.968C>G",
"hgvs_p": "p.Ser323Trp",
"transcript": "ENST00000400103.7",
"protein_id": "ENSP00000382974.2",
"transcript_support_level": 5,
"aa_start": 323,
"aa_end": null,
"aa_length": 411,
"cds_start": 968,
"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": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPTE2",
"gene_hgnc_id": 17299,
"hgvs_c": "c.1007C>G",
"hgvs_p": "p.Ser336Trp",
"transcript": "ENST00000696857.1",
"protein_id": "ENSP00000512930.1",
"transcript_support_level": null,
"aa_start": 336,
"aa_end": null,
"aa_length": 393,
"cds_start": 1007,
"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": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPTE2",
"gene_hgnc_id": 17299,
"hgvs_c": "c.314C>G",
"hgvs_p": "p.Ser105Trp",
"transcript": "NM_001271850.2",
"protein_id": "NP_001258779.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 193,
"cds_start": 314,
"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": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPTE2",
"gene_hgnc_id": 17299,
"hgvs_c": "n.908C>G",
"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": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPTE2",
"gene_hgnc_id": 17299,
"hgvs_c": "n.1301C>G",
"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": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPTE2",
"gene_hgnc_id": 17299,
"hgvs_c": "n.1624C>G",
"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": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPTE2",
"gene_hgnc_id": 17299,
"hgvs_c": "n.951C>G",
"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": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPTE2",
"gene_hgnc_id": 17299,
"hgvs_c": "n.1049C>G",
"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": "rs149205749",
"frequency_reference_population": 0.00044514006,
"hom_count_reference_population": 0,
"allele_count_reference_population": 715,
"gnomad_exomes_af": 0.000414004,
"gnomad_genomes_af": 0.000742717,
"gnomad_exomes_ac": 602,
"gnomad_genomes_ac": 113,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.011874645948410034,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.199,
"revel_prediction": "Benign",
"alphamissense_score": 0.1836,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.35,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -2.016,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.27,
"spliceai_max_prediction": "Uncertain_significance",
"dbscsnv_ada_score": 0.000349949461551093,
"dbscsnv_ada_prediction": "Benign",
"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": "NM_199254.3",
"gene_symbol": "TPTE2",
"hgnc_id": 17299,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1301C>G",
"hgvs_p": "p.Ser434Trp"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}