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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: 10-32018121-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=32018121&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 32018121,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_004521.3",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF5B",
"gene_hgnc_id": 6324,
"hgvs_c": "c.2475C>G",
"hgvs_p": "p.Ser825Arg",
"transcript": "NM_004521.3",
"protein_id": "NP_004512.1",
"transcript_support_level": null,
"aa_start": 825,
"aa_end": null,
"aa_length": 963,
"cds_start": 2475,
"cds_end": null,
"cds_length": 2892,
"cdna_start": 2927,
"cdna_end": null,
"cdna_length": 5866,
"mane_select": "ENST00000302418.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004521.3"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF5B",
"gene_hgnc_id": 6324,
"hgvs_c": "c.2475C>G",
"hgvs_p": "p.Ser825Arg",
"transcript": "ENST00000302418.5",
"protein_id": "ENSP00000307078.4",
"transcript_support_level": 1,
"aa_start": 825,
"aa_end": null,
"aa_length": 963,
"cds_start": 2475,
"cds_end": null,
"cds_length": 2892,
"cdna_start": 2927,
"cdna_end": null,
"cdna_length": 5866,
"mane_select": "NM_004521.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000302418.5"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF5B",
"gene_hgnc_id": 6324,
"hgvs_c": "c.2760C>G",
"hgvs_p": "p.Ser920Arg",
"transcript": "ENST00000861449.1",
"protein_id": "ENSP00000531508.1",
"transcript_support_level": null,
"aa_start": 920,
"aa_end": null,
"aa_length": 1058,
"cds_start": 2760,
"cds_end": null,
"cds_length": 3177,
"cdna_start": 3202,
"cdna_end": null,
"cdna_length": 4017,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861449.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF5B",
"gene_hgnc_id": 6324,
"hgvs_c": "c.2472C>G",
"hgvs_p": "p.Ser824Arg",
"transcript": "ENST00000861448.1",
"protein_id": "ENSP00000531507.1",
"transcript_support_level": null,
"aa_start": 824,
"aa_end": null,
"aa_length": 962,
"cds_start": 2472,
"cds_end": null,
"cds_length": 2889,
"cdna_start": 2924,
"cdna_end": null,
"cdna_length": 5027,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861448.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF5B",
"gene_hgnc_id": 6324,
"hgvs_c": "c.2370C>G",
"hgvs_p": "p.Ser790Arg",
"transcript": "ENST00000948543.1",
"protein_id": "ENSP00000618602.1",
"transcript_support_level": null,
"aa_start": 790,
"aa_end": null,
"aa_length": 928,
"cds_start": 2370,
"cds_end": null,
"cds_length": 2787,
"cdna_start": 2851,
"cdna_end": null,
"cdna_length": 5785,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948543.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF5B",
"gene_hgnc_id": 6324,
"hgvs_c": "c.2331C>G",
"hgvs_p": "p.Ser777Arg",
"transcript": "ENST00000948544.1",
"protein_id": "ENSP00000618603.1",
"transcript_support_level": null,
"aa_start": 777,
"aa_end": null,
"aa_length": 915,
"cds_start": 2331,
"cds_end": null,
"cds_length": 2748,
"cdna_start": 2782,
"cdna_end": null,
"cdna_length": 5722,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948544.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF5B",
"gene_hgnc_id": 6324,
"hgvs_c": "c.2475C>G",
"hgvs_p": "p.Ser825Arg",
"transcript": "XM_047425202.1",
"protein_id": "XP_047281158.1",
"transcript_support_level": null,
"aa_start": 825,
"aa_end": null,
"aa_length": 963,
"cds_start": 2475,
"cds_end": null,
"cds_length": 2892,
"cdna_start": 2927,
"cdna_end": null,
"cdna_length": 3366,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425202.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF5B",
"gene_hgnc_id": 6324,
"hgvs_c": "c.2193C>G",
"hgvs_p": "p.Ser731Arg",
"transcript": "XM_047425203.1",
"protein_id": "XP_047281159.1",
"transcript_support_level": null,
"aa_start": 731,
"aa_end": null,
"aa_length": 869,
"cds_start": 2193,
"cds_end": null,
"cds_length": 2610,
"cdna_start": 3141,
"cdna_end": null,
"cdna_length": 6080,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425203.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF5B",
"gene_hgnc_id": 6324,
"hgvs_c": "n.272C>G",
"hgvs_p": null,
"transcript": "ENST00000493889.1",
"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": 494,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000493889.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOC107984219",
"gene_hgnc_id": null,
"hgvs_c": "n.5449G>C",
"hgvs_p": null,
"transcript": "XR_001747415.2",
"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": 7727,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_001747415.2"
}
],
"gene_symbol": "KIF5B",
"gene_hgnc_id": 6324,
"dbsnp": "rs139270702",
"frequency_reference_population": 0.0000013715972,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.0000013716,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6143141388893127,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.644,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9908,
"alphamissense_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.02,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 1.051,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_004521.3",
"gene_symbol": "KIF5B",
"hgnc_id": 6324,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2475C>G",
"hgvs_p": "p.Ser825Arg"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "XR_001747415.2",
"gene_symbol": "LOC107984219",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.5449G>C",
"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
}