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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: 11-113689871-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=113689871&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 113689871,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_030770.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMPRSS5",
"gene_hgnc_id": 14908,
"hgvs_c": "c.1253G>A",
"hgvs_p": "p.Arg418His",
"transcript": "NM_030770.4",
"protein_id": "NP_110397.2",
"transcript_support_level": null,
"aa_start": 418,
"aa_end": null,
"aa_length": 457,
"cds_start": 1253,
"cds_end": null,
"cds_length": 1374,
"cdna_start": 1337,
"cdna_end": null,
"cdna_length": 2168,
"mane_select": "ENST00000299882.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_030770.4"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMPRSS5",
"gene_hgnc_id": 14908,
"hgvs_c": "c.1253G>A",
"hgvs_p": "p.Arg418His",
"transcript": "ENST00000299882.11",
"protein_id": "ENSP00000299882.5",
"transcript_support_level": 1,
"aa_start": 418,
"aa_end": null,
"aa_length": 457,
"cds_start": 1253,
"cds_end": null,
"cds_length": 1374,
"cdna_start": 1337,
"cdna_end": null,
"cdna_length": 2168,
"mane_select": "NM_030770.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000299882.11"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMPRSS5",
"gene_hgnc_id": 14908,
"hgvs_c": "c.1226G>A",
"hgvs_p": "p.Arg409His",
"transcript": "ENST00000545579.6",
"protein_id": "ENSP00000441104.1",
"transcript_support_level": 1,
"aa_start": 409,
"aa_end": null,
"aa_length": 448,
"cds_start": 1226,
"cds_end": null,
"cds_length": 1347,
"cdna_start": 1506,
"cdna_end": null,
"cdna_length": 2340,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000545579.6"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMPRSS5",
"gene_hgnc_id": 14908,
"hgvs_c": "c.1121G>A",
"hgvs_p": "p.Arg374His",
"transcript": "ENST00000538955.5",
"protein_id": "ENSP00000445528.1",
"transcript_support_level": 1,
"aa_start": 374,
"aa_end": null,
"aa_length": 413,
"cds_start": 1121,
"cds_end": null,
"cds_length": 1242,
"cdna_start": 1272,
"cdna_end": null,
"cdna_length": 1956,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000538955.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "TMPRSS5",
"gene_hgnc_id": 14908,
"hgvs_c": "c.429+360G>A",
"hgvs_p": null,
"transcript": "ENST00000536856.5",
"protein_id": "ENSP00000437937.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 147,
"cds_start": null,
"cds_end": null,
"cds_length": 444,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1811,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000536856.5"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMPRSS5",
"gene_hgnc_id": 14908,
"hgvs_c": "c.1226G>A",
"hgvs_p": "p.Arg409His",
"transcript": "NM_001288751.2",
"protein_id": "NP_001275680.1",
"transcript_support_level": null,
"aa_start": 409,
"aa_end": null,
"aa_length": 448,
"cds_start": 1226,
"cds_end": null,
"cds_length": 1347,
"cdna_start": 1441,
"cdna_end": null,
"cdna_length": 2272,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001288751.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMPRSS5",
"gene_hgnc_id": 14908,
"hgvs_c": "c.1121G>A",
"hgvs_p": "p.Arg374His",
"transcript": "NM_001288750.2",
"protein_id": "NP_001275679.1",
"transcript_support_level": null,
"aa_start": 374,
"aa_end": null,
"aa_length": 413,
"cds_start": 1121,
"cds_end": null,
"cds_length": 1242,
"cdna_start": 1234,
"cdna_end": null,
"cdna_length": 2065,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001288750.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMPRSS5",
"gene_hgnc_id": 14908,
"hgvs_c": "c.1046G>A",
"hgvs_p": "p.Arg349His",
"transcript": "NM_001288752.2",
"protein_id": "NP_001275681.1",
"transcript_support_level": null,
"aa_start": 349,
"aa_end": null,
"aa_length": 388,
"cds_start": 1046,
"cds_end": null,
"cds_length": 1167,
"cdna_start": 1130,
"cdna_end": null,
"cdna_length": 1961,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001288752.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMPRSS5",
"gene_hgnc_id": 14908,
"hgvs_c": "c.1046G>A",
"hgvs_p": "p.Arg349His",
"transcript": "ENST00000544634.5",
"protein_id": "ENSP00000440783.1",
"transcript_support_level": 2,
"aa_start": 349,
"aa_end": null,
"aa_length": 388,
"cds_start": 1046,
"cds_end": null,
"cds_length": 1167,
"cdna_start": 1124,
"cdna_end": null,
"cdna_length": 1524,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000544634.5"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMPRSS5",
"gene_hgnc_id": 14908,
"hgvs_c": "c.914G>A",
"hgvs_p": "p.Arg305His",
"transcript": "NM_001288749.2",
"protein_id": "NP_001275678.1",
"transcript_support_level": null,
"aa_start": 305,
"aa_end": null,
"aa_length": 344,
"cds_start": 914,
"cds_end": null,
"cds_length": 1035,
"cdna_start": 1027,
"cdna_end": null,
"cdna_length": 1858,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001288749.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMPRSS5",
"gene_hgnc_id": 14908,
"hgvs_c": "c.914G>A",
"hgvs_p": "p.Arg305His",
"transcript": "ENST00000544476.1",
"protein_id": "ENSP00000445930.1",
"transcript_support_level": 2,
"aa_start": 305,
"aa_end": null,
"aa_length": 344,
"cds_start": 914,
"cds_end": null,
"cds_length": 1035,
"cdna_start": 1027,
"cdna_end": null,
"cdna_length": 1320,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000544476.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMPRSS5",
"gene_hgnc_id": 14908,
"hgvs_c": "c.476G>A",
"hgvs_p": "p.Arg159His",
"transcript": "ENST00000540540.5",
"protein_id": "ENSP00000437761.1",
"transcript_support_level": 2,
"aa_start": 159,
"aa_end": null,
"aa_length": 198,
"cds_start": 476,
"cds_end": null,
"cds_length": 597,
"cdna_start": 1170,
"cdna_end": null,
"cdna_length": 2001,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000540540.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "TMPRSS5",
"gene_hgnc_id": 14908,
"hgvs_c": "c.1224+360G>A",
"hgvs_p": null,
"transcript": "ENST00000884651.1",
"protein_id": "ENSP00000554710.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 412,
"cds_start": null,
"cds_end": null,
"cds_length": 1239,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2114,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884651.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMPRSS5",
"gene_hgnc_id": 14908,
"hgvs_c": "n.*1222G>A",
"hgvs_p": null,
"transcript": "ENST00000645981.1",
"protein_id": "ENSP00000496410.1",
"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": 2163,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000645981.1"
},
{
"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": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMPRSS5",
"gene_hgnc_id": 14908,
"hgvs_c": "n.1135G>A",
"hgvs_p": null,
"transcript": "NR_110046.2",
"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": 1966,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_110046.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMPRSS5",
"gene_hgnc_id": 14908,
"hgvs_c": "n.*1222G>A",
"hgvs_p": null,
"transcript": "ENST00000645981.1",
"protein_id": "ENSP00000496410.1",
"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": 2163,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000645981.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "TMPRSS5",
"gene_hgnc_id": 14908,
"hgvs_c": "n.1088+360G>A",
"hgvs_p": null,
"transcript": "NR_110047.2",
"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": 1813,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_110047.2"
}
],
"gene_symbol": "TMPRSS5",
"gene_hgnc_id": 14908,
"dbsnp": "rs771746689",
"frequency_reference_population": 0.000013304376,
"hom_count_reference_population": 0,
"allele_count_reference_population": 21,
"gnomad_exomes_af": 0.0000112177,
"gnomad_genomes_af": 0.0000328709,
"gnomad_exomes_ac": 16,
"gnomad_genomes_ac": 5,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.16514265537261963,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.05999999865889549,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.103,
"revel_prediction": "Benign",
"alphamissense_score": 0.0567,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.52,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.153,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.06,
"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": -8,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6_Moderate,BS2",
"acmg_by_gene": [
{
"score": -8,
"benign_score": 8,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6_Moderate",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_030770.4",
"gene_symbol": "TMPRSS5",
"hgnc_id": 14908,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1253G>A",
"hgvs_p": "p.Arg418His"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}