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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: 1-10282463-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=10282463&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 10282463,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000676179.1",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1B",
"gene_hgnc_id": 16636,
"hgvs_c": "c.1364C>A",
"hgvs_p": "p.Thr455Lys",
"transcript": "NM_001365951.3",
"protein_id": "NP_001352880.1",
"transcript_support_level": null,
"aa_start": 455,
"aa_end": null,
"aa_length": 1816,
"cds_start": 1364,
"cds_end": null,
"cds_length": 5451,
"cdna_start": 1752,
"cdna_end": null,
"cdna_length": 10855,
"mane_select": "ENST00000676179.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1B",
"gene_hgnc_id": 16636,
"hgvs_c": "c.1364C>A",
"hgvs_p": "p.Thr455Lys",
"transcript": "ENST00000676179.1",
"protein_id": "ENSP00000502065.1",
"transcript_support_level": null,
"aa_start": 455,
"aa_end": null,
"aa_length": 1816,
"cds_start": 1364,
"cds_end": null,
"cds_length": 5451,
"cdna_start": 1752,
"cdna_end": null,
"cdna_length": 10855,
"mane_select": "NM_001365951.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1B",
"gene_hgnc_id": 16636,
"hgvs_c": "c.1364C>A",
"hgvs_p": "p.Thr455Lys",
"transcript": "ENST00000377081.5",
"protein_id": "ENSP00000366284.1",
"transcript_support_level": 1,
"aa_start": 455,
"aa_end": null,
"aa_length": 1823,
"cds_start": 1364,
"cds_end": null,
"cds_length": 5472,
"cdna_start": 1443,
"cdna_end": null,
"cdna_length": 8746,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1B",
"gene_hgnc_id": 16636,
"hgvs_c": "c.1364C>A",
"hgvs_p": "p.Thr455Lys",
"transcript": "ENST00000377086.5",
"protein_id": "ENSP00000366290.1",
"transcript_support_level": 1,
"aa_start": 455,
"aa_end": null,
"aa_length": 1816,
"cds_start": 1364,
"cds_end": null,
"cds_length": 5451,
"cdna_start": 1566,
"cdna_end": null,
"cdna_length": 10669,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1B",
"gene_hgnc_id": 16636,
"hgvs_c": "c.1322C>A",
"hgvs_p": "p.Thr441Lys",
"transcript": "ENST00000620295.2",
"protein_id": "ENSP00000478500.1",
"transcript_support_level": 1,
"aa_start": 441,
"aa_end": null,
"aa_length": 1809,
"cds_start": 1322,
"cds_end": null,
"cds_length": 5430,
"cdna_start": 1322,
"cdna_end": null,
"cdna_length": 8624,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1B",
"gene_hgnc_id": 16636,
"hgvs_c": "c.1286C>A",
"hgvs_p": "p.Thr429Lys",
"transcript": "ENST00000622724.3",
"protein_id": "ENSP00000480063.1",
"transcript_support_level": 1,
"aa_start": 429,
"aa_end": null,
"aa_length": 1797,
"cds_start": 1286,
"cds_end": null,
"cds_length": 5394,
"cdna_start": 1286,
"cdna_end": null,
"cdna_length": 8588,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1B",
"gene_hgnc_id": 16636,
"hgvs_c": "c.1226C>A",
"hgvs_p": "p.Thr409Lys",
"transcript": "ENST00000263934.10",
"protein_id": "ENSP00000263934.6",
"transcript_support_level": 1,
"aa_start": 409,
"aa_end": null,
"aa_length": 1770,
"cds_start": 1226,
"cds_end": null,
"cds_length": 5313,
"cdna_start": 1379,
"cdna_end": null,
"cdna_length": 6816,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1B",
"gene_hgnc_id": 16636,
"hgvs_c": "c.1226C>A",
"hgvs_p": "p.Thr409Lys",
"transcript": "ENST00000377083.5",
"protein_id": "ENSP00000366287.1",
"transcript_support_level": 1,
"aa_start": 409,
"aa_end": null,
"aa_length": 1153,
"cds_start": 1226,
"cds_end": null,
"cds_length": 3462,
"cdna_start": 1539,
"cdna_end": null,
"cdna_length": 5885,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1B",
"gene_hgnc_id": 16636,
"hgvs_c": "c.1226C>A",
"hgvs_p": "p.Thr409Lys",
"transcript": "ENST00000377093.9",
"protein_id": "ENSP00000366297.4",
"transcript_support_level": 1,
"aa_start": 409,
"aa_end": null,
"aa_length": 1153,
"cds_start": 1226,
"cds_end": null,
"cds_length": 3462,
"cdna_start": 1614,
"cdna_end": null,
"cdna_length": 7800,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1B",
"gene_hgnc_id": 16636,
"hgvs_c": "c.1226C>A",
"hgvs_p": "p.Thr409Lys",
"transcript": "ENST00000696502.1",
"protein_id": "ENSP00000512668.1",
"transcript_support_level": null,
"aa_start": 409,
"aa_end": null,
"aa_length": 1837,
"cds_start": 1226,
"cds_end": null,
"cds_length": 5514,
"cdna_start": 1379,
"cdna_end": null,
"cdna_length": 7017,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1B",
"gene_hgnc_id": 16636,
"hgvs_c": "c.1364C>A",
"hgvs_p": "p.Thr455Lys",
"transcript": "NM_001365952.1",
"protein_id": "NP_001352881.1",
"transcript_support_level": null,
"aa_start": 455,
"aa_end": null,
"aa_length": 1816,
"cds_start": 1364,
"cds_end": null,
"cds_length": 5451,
"cdna_start": 1566,
"cdna_end": null,
"cdna_length": 10669,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1B",
"gene_hgnc_id": 16636,
"hgvs_c": "c.1226C>A",
"hgvs_p": "p.Thr409Lys",
"transcript": "ENST00000696503.1",
"protein_id": "ENSP00000512669.1",
"transcript_support_level": null,
"aa_start": 409,
"aa_end": null,
"aa_length": 1791,
"cds_start": 1226,
"cds_end": null,
"cds_length": 5376,
"cdna_start": 1379,
"cdna_end": null,
"cdna_length": 6879,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1B",
"gene_hgnc_id": 16636,
"hgvs_c": "c.1226C>A",
"hgvs_p": "p.Thr409Lys",
"transcript": "ENST00000696504.1",
"protein_id": "ENSP00000512670.1",
"transcript_support_level": null,
"aa_start": 409,
"aa_end": null,
"aa_length": 1791,
"cds_start": 1226,
"cds_end": null,
"cds_length": 5376,
"cdna_start": 1379,
"cdna_end": null,
"cdna_length": 6879,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1B",
"gene_hgnc_id": 16636,
"hgvs_c": "c.1226C>A",
"hgvs_p": "p.Thr409Lys",
"transcript": "NM_015074.3",
"protein_id": "NP_055889.2",
"transcript_support_level": null,
"aa_start": 409,
"aa_end": null,
"aa_length": 1770,
"cds_start": 1226,
"cds_end": null,
"cds_length": 5313,
"cdna_start": 1478,
"cdna_end": null,
"cdna_length": 10581,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1B",
"gene_hgnc_id": 16636,
"hgvs_c": "c.1226C>A",
"hgvs_p": "p.Thr409Lys",
"transcript": "NM_001365953.1",
"protein_id": "NP_001352882.1",
"transcript_support_level": null,
"aa_start": 409,
"aa_end": null,
"aa_length": 1153,
"cds_start": 1226,
"cds_end": null,
"cds_length": 3462,
"cdna_start": 1539,
"cdna_end": null,
"cdna_length": 7725,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1B",
"gene_hgnc_id": 16636,
"hgvs_c": "c.1226C>A",
"hgvs_p": "p.Thr409Lys",
"transcript": "NM_183416.4",
"protein_id": "NP_904325.2",
"transcript_support_level": null,
"aa_start": 409,
"aa_end": null,
"aa_length": 1153,
"cds_start": 1226,
"cds_end": null,
"cds_length": 3462,
"cdna_start": 1614,
"cdna_end": null,
"cdna_length": 7800,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1B",
"gene_hgnc_id": 16636,
"hgvs_c": "n.14C>A",
"hgvs_p": null,
"transcript": "ENST00000497835.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 452,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1B",
"gene_hgnc_id": 16636,
"hgvs_c": "n.*398C>A",
"hgvs_p": null,
"transcript": "ENST00000696500.1",
"protein_id": "ENSP00000512666.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7839,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1B",
"gene_hgnc_id": 16636,
"hgvs_c": "n.62C>A",
"hgvs_p": null,
"transcript": "ENST00000696507.1",
"protein_id": "ENSP00000512673.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 338,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1B",
"gene_hgnc_id": 16636,
"hgvs_c": "n.*398C>A",
"hgvs_p": null,
"transcript": "ENST00000696500.1",
"protein_id": "ENSP00000512666.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7839,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1B",
"gene_hgnc_id": 16636,
"hgvs_c": "n.*80C>A",
"hgvs_p": null,
"transcript": "ENST00000495136.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 643,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "KIF1B",
"gene_hgnc_id": 16636,
"dbsnp": "rs201474903",
"frequency_reference_population": 0.000009576827,
"hom_count_reference_population": 0,
"allele_count_reference_population": 14,
"gnomad_exomes_af": 0.00000957683,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 14,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.1113547682762146,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.09,
"revel_prediction": "Benign",
"alphamissense_score": 0.2895,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.25,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.664,
"phylop100way_prediction": "Uncertain_significance",
"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": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "ENST00000676179.1",
"gene_symbol": "KIF1B",
"hgnc_id": 16636,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1364C>A",
"hgvs_p": "p.Thr455Lys"
}
],
"clinvar_disease": "Charcot-Marie-Tooth disease type 2,not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "Charcot-Marie-Tooth disease type 2|not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}