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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: 19-2426020-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=2426020&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 2426020,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001395513.1",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMPRSS9",
"gene_hgnc_id": 30079,
"hgvs_c": "c.3214C>A",
"hgvs_p": "p.His1072Asn",
"transcript": "NM_001395513.1",
"protein_id": "NP_001382442.1",
"transcript_support_level": null,
"aa_start": 1072,
"aa_end": null,
"aa_length": 1093,
"cds_start": 3214,
"cds_end": null,
"cds_length": 3282,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000696167.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001395513.1"
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMPRSS9",
"gene_hgnc_id": 30079,
"hgvs_c": "c.3214C>A",
"hgvs_p": "p.His1072Asn",
"transcript": "ENST00000696167.1",
"protein_id": "ENSP00000512457.1",
"transcript_support_level": null,
"aa_start": 1072,
"aa_end": null,
"aa_length": 1093,
"cds_start": 3214,
"cds_end": null,
"cds_length": 3282,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001395513.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000696167.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIMM13",
"gene_hgnc_id": 11816,
"hgvs_c": "c.*928G>T",
"hgvs_p": null,
"transcript": "NM_012458.4",
"protein_id": "NP_036590.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 95,
"cds_start": null,
"cds_end": null,
"cds_length": 288,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000215570.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_012458.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIMM13",
"gene_hgnc_id": 11816,
"hgvs_c": "c.*928G>T",
"hgvs_p": null,
"transcript": "ENST00000215570.8",
"protein_id": "ENSP00000215570.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 95,
"cds_start": null,
"cds_end": null,
"cds_length": 288,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_012458.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000215570.8"
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMPRSS9",
"gene_hgnc_id": 30079,
"hgvs_c": "c.3214C>A",
"hgvs_p": "p.His1072Asn",
"transcript": "ENST00000648592.1",
"protein_id": "ENSP00000498031.1",
"transcript_support_level": null,
"aa_start": 1072,
"aa_end": null,
"aa_length": 1093,
"cds_start": 3214,
"cds_end": null,
"cds_length": 3282,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000648592.1"
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMPRSS9",
"gene_hgnc_id": 30079,
"hgvs_c": "c.3112C>A",
"hgvs_p": "p.His1038Asn",
"transcript": "NM_182973.3",
"protein_id": "NP_892018.1",
"transcript_support_level": null,
"aa_start": 1038,
"aa_end": null,
"aa_length": 1059,
"cds_start": 3112,
"cds_end": null,
"cds_length": 3180,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_182973.3"
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMPRSS9",
"gene_hgnc_id": 30079,
"hgvs_c": "c.3112C>A",
"hgvs_p": "p.His1038Asn",
"transcript": "ENST00000649857.1",
"protein_id": "ENSP00000497651.1",
"transcript_support_level": null,
"aa_start": 1038,
"aa_end": null,
"aa_length": 1059,
"cds_start": 3112,
"cds_end": null,
"cds_length": 3180,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000649857.1"
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMPRSS9",
"gene_hgnc_id": 30079,
"hgvs_c": "c.2518C>A",
"hgvs_p": "p.His840Asn",
"transcript": "NM_001385642.1",
"protein_id": "NP_001372571.1",
"transcript_support_level": null,
"aa_start": 840,
"aa_end": null,
"aa_length": 861,
"cds_start": 2518,
"cds_end": null,
"cds_length": 2586,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385642.1"
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMPRSS9",
"gene_hgnc_id": 30079,
"hgvs_c": "c.3214C>A",
"hgvs_p": "p.His1072Asn",
"transcript": "XM_011527978.3",
"protein_id": "XP_011526280.1",
"transcript_support_level": null,
"aa_start": 1072,
"aa_end": null,
"aa_length": 1093,
"cds_start": 3214,
"cds_end": null,
"cds_length": 3282,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011527978.3"
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMPRSS9",
"gene_hgnc_id": 30079,
"hgvs_c": "c.3181C>A",
"hgvs_p": "p.His1061Asn",
"transcript": "XM_047438776.1",
"protein_id": "XP_047294732.1",
"transcript_support_level": null,
"aa_start": 1061,
"aa_end": null,
"aa_length": 1082,
"cds_start": 3181,
"cds_end": null,
"cds_length": 3249,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438776.1"
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMPRSS9",
"gene_hgnc_id": 30079,
"hgvs_c": "c.2518C>A",
"hgvs_p": "p.His840Asn",
"transcript": "XM_047438777.1",
"protein_id": "XP_047294733.1",
"transcript_support_level": null,
"aa_start": 840,
"aa_end": null,
"aa_length": 861,
"cds_start": 2518,
"cds_end": null,
"cds_length": 2586,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438777.1"
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMPRSS9",
"gene_hgnc_id": 30079,
"hgvs_c": "c.2005C>A",
"hgvs_p": "p.His669Asn",
"transcript": "XM_011527980.1",
"protein_id": "XP_011526282.1",
"transcript_support_level": null,
"aa_start": 669,
"aa_end": null,
"aa_length": 690,
"cds_start": 2005,
"cds_end": null,
"cds_length": 2073,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011527980.1"
}
],
"gene_symbol": "TMPRSS9",
"gene_hgnc_id": 30079,
"dbsnp": "rs138271458",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.08717721700668335,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.262,
"revel_prediction": "Benign",
"alphamissense_score": 0.0712,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.33,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.561,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001395513.1",
"gene_symbol": "TMPRSS9",
"hgnc_id": 30079,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.3214C>A",
"hgvs_p": "p.His1072Asn"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_012458.4",
"gene_symbol": "TIMM13",
"hgnc_id": 11816,
"effects": [
"3_prime_UTR_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.*928G>T",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}