← Back to variant description
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: 1-10334581-GTC-ATT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=10334581&ref=GTC&alt=ATT&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "KIF1B",
"hgnc_id": 16636,
"hgvs_c": "c.2986_2988delGTCinsATT",
"hgvs_p": "p.Val996Ile",
"inheritance_mode": "AD",
"pathogenic_score": 1,
"score": 1,
"transcript": "NM_001365951.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3",
"acmg_score": 1,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "ATT",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "1",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1816,
"aa_ref": "V",
"aa_start": 996,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10855,
"cdna_start": 3374,
"cds_end": null,
"cds_length": 5451,
"cds_start": 2986,
"consequences": [
"missense_variant"
],
"exon_count": 49,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001365951.3",
"gene_hgnc_id": 16636,
"gene_symbol": "KIF1B",
"hgvs_c": "c.2986_2988delGTCinsATT",
"hgvs_p": "p.Val996Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000676179.1",
"protein_coding": true,
"protein_id": "NP_001352880.1",
"strand": true,
"transcript": "NM_001365951.3",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1816,
"aa_ref": "V",
"aa_start": 996,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 10855,
"cdna_start": 3374,
"cds_end": null,
"cds_length": 5451,
"cds_start": 2986,
"consequences": [
"missense_variant"
],
"exon_count": 49,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000676179.1",
"gene_hgnc_id": 16636,
"gene_symbol": "KIF1B",
"hgvs_c": "c.2986_2988delGTCinsATT",
"hgvs_p": "p.Val996Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001365951.3",
"protein_coding": true,
"protein_id": "ENSP00000502065.1",
"strand": true,
"transcript": "ENST00000676179.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1823,
"aa_ref": "V",
"aa_start": 996,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8746,
"cdna_start": 3065,
"cds_end": null,
"cds_length": 5472,
"cds_start": 2986,
"consequences": [
"missense_variant"
],
"exon_count": 48,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000377081.5",
"gene_hgnc_id": 16636,
"gene_symbol": "KIF1B",
"hgvs_c": "c.2986_2988delGTCinsATT",
"hgvs_p": "p.Val996Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000366284.1",
"strand": true,
"transcript": "ENST00000377081.5",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1816,
"aa_ref": "V",
"aa_start": 996,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10669,
"cdna_start": 3188,
"cds_end": null,
"cds_length": 5451,
"cds_start": 2986,
"consequences": [
"missense_variant"
],
"exon_count": 49,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000377086.5",
"gene_hgnc_id": 16636,
"gene_symbol": "KIF1B",
"hgvs_c": "c.2986_2988delGTCinsATT",
"hgvs_p": "p.Val996Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000366290.1",
"strand": true,
"transcript": "ENST00000377086.5",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1809,
"aa_ref": "V",
"aa_start": 982,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8624,
"cdna_start": 2944,
"cds_end": null,
"cds_length": 5430,
"cds_start": 2944,
"consequences": [
"missense_variant"
],
"exon_count": 47,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000620295.2",
"gene_hgnc_id": 16636,
"gene_symbol": "KIF1B",
"hgvs_c": "c.2944_2946delGTCinsATT",
"hgvs_p": "p.Val982Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000478500.1",
"strand": true,
"transcript": "ENST00000620295.2",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1797,
"aa_ref": "V",
"aa_start": 970,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8588,
"cdna_start": 2908,
"cds_end": null,
"cds_length": 5394,
"cds_start": 2908,
"consequences": [
"missense_variant"
],
"exon_count": 48,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000622724.3",
"gene_hgnc_id": 16636,
"gene_symbol": "KIF1B",
"hgvs_c": "c.2908_2910delGTCinsATT",
"hgvs_p": "p.Val970Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000480063.1",
"strand": true,
"transcript": "ENST00000622724.3",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1770,
"aa_ref": "V",
"aa_start": 950,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6816,
"cdna_start": 3001,
"cds_end": null,
"cds_length": 5313,
"cds_start": 2848,
"consequences": [
"missense_variant"
],
"exon_count": 47,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000263934.10",
"gene_hgnc_id": 16636,
"gene_symbol": "KIF1B",
"hgvs_c": "c.2848_2850delGTCinsATT",
"hgvs_p": "p.Val950Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000263934.6",
"strand": true,
"transcript": "ENST00000263934.10",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1837,
"aa_ref": "V",
"aa_start": 950,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7017,
"cdna_start": 3001,
"cds_end": null,
"cds_length": 5514,
"cds_start": 2848,
"consequences": [
"missense_variant"
],
"exon_count": 48,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000696502.1",
"gene_hgnc_id": 16636,
"gene_symbol": "KIF1B",
"hgvs_c": "c.2848_2850delGTCinsATT",
"hgvs_p": "p.Val950Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000512668.1",
"strand": true,
"transcript": "ENST00000696502.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1816,
"aa_ref": "V",
"aa_start": 996,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10669,
"cdna_start": 3188,
"cds_end": null,
"cds_length": 5451,
"cds_start": 2986,
"consequences": [
"missense_variant"
],
"exon_count": 49,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001365952.1",
"gene_hgnc_id": 16636,
"gene_symbol": "KIF1B",
"hgvs_c": "c.2986_2988delGTCinsATT",
"hgvs_p": "p.Val996Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001352881.1",
"strand": true,
"transcript": "NM_001365952.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1810,
"aa_ref": "V",
"aa_start": 990,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6109,
"cdna_start": 3342,
"cds_end": null,
"cds_length": 5433,
"cds_start": 2968,
"consequences": [
"missense_variant"
],
"exon_count": 48,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000858331.1",
"gene_hgnc_id": 16636,
"gene_symbol": "KIF1B",
"hgvs_c": "c.2968_2970delGTCinsATT",
"hgvs_p": "p.Val990Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528390.1",
"strand": true,
"transcript": "ENST00000858331.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1796,
"aa_ref": "V",
"aa_start": 976,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10835,
"cdna_start": 3351,
"cds_end": null,
"cds_length": 5391,
"cds_start": 2926,
"consequences": [
"missense_variant"
],
"exon_count": 47,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000858327.1",
"gene_hgnc_id": 16636,
"gene_symbol": "KIF1B",
"hgvs_c": "c.2926_2928delGTCinsATT",
"hgvs_p": "p.Val976Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528386.1",
"strand": true,
"transcript": "ENST00000858327.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1791,
"aa_ref": "V",
"aa_start": 971,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6879,
"cdna_start": 3064,
"cds_end": null,
"cds_length": 5376,
"cds_start": 2911,
"consequences": [
"missense_variant"
],
"exon_count": 48,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000696503.1",
"gene_hgnc_id": 16636,
"gene_symbol": "KIF1B",
"hgvs_c": "c.2911_2913delGTCinsATT",
"hgvs_p": "p.Val971Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000512669.1",
"strand": true,
"transcript": "ENST00000696503.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1791,
"aa_ref": "V",
"aa_start": 971,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6879,
"cdna_start": 3064,
"cds_end": null,
"cds_length": 5376,
"cds_start": 2911,
"consequences": [
"missense_variant"
],
"exon_count": 48,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000696504.1",
"gene_hgnc_id": 16636,
"gene_symbol": "KIF1B",
"hgvs_c": "c.2911_2913delGTCinsATT",
"hgvs_p": "p.Val971Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000512670.1",
"strand": true,
"transcript": "ENST00000696504.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1790,
"aa_ref": "V",
"aa_start": 970,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10776,
"cdna_start": 3301,
"cds_end": null,
"cds_length": 5373,
"cds_start": 2908,
"consequences": [
"missense_variant"
],
"exon_count": 49,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000858328.1",
"gene_hgnc_id": 16636,
"gene_symbol": "KIF1B",
"hgvs_c": "c.2908_2910delGTCinsATT",
"hgvs_p": "p.Val970Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528387.1",
"strand": true,
"transcript": "ENST00000858328.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1784,
"aa_ref": "V",
"aa_start": 964,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5969,
"cdna_start": 3281,
"cds_end": null,
"cds_length": 5355,
"cds_start": 2890,
"consequences": [
"missense_variant"
],
"exon_count": 48,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000959020.1",
"gene_hgnc_id": 16636,
"gene_symbol": "KIF1B",
"hgvs_c": "c.2890_2892delGTCinsATT",
"hgvs_p": "p.Val964Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000629079.1",
"strand": true,
"transcript": "ENST00000959020.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1770,
"aa_ref": "V",
"aa_start": 950,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10581,
"cdna_start": 3100,
"cds_end": null,
"cds_length": 5313,
"cds_start": 2848,
"consequences": [
"missense_variant"
],
"exon_count": 47,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_015074.3",
"gene_hgnc_id": 16636,
"gene_symbol": "KIF1B",
"hgvs_c": "c.2848_2850delGTCinsATT",
"hgvs_p": "p.Val950Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_055889.2",
"strand": true,
"transcript": "NM_015074.3",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1727,
"aa_ref": "V",
"aa_start": 907,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5577,
"cdna_start": 3054,
"cds_end": null,
"cds_length": 5184,
"cds_start": 2719,
"consequences": [
"missense_variant"
],
"exon_count": 47,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000858332.1",
"gene_hgnc_id": 16636,
"gene_symbol": "KIF1B",
"hgvs_c": "c.2719_2721delGTCinsATT",
"hgvs_p": "p.Val907Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528391.1",
"strand": true,
"transcript": "ENST00000858332.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1713,
"aa_ref": "V",
"aa_start": 893,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5865,
"cdna_start": 3098,
"cds_end": null,
"cds_length": 5142,
"cds_start": 2677,
"consequences": [
"missense_variant"
],
"exon_count": 46,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000858330.1",
"gene_hgnc_id": 16636,
"gene_symbol": "KIF1B",
"hgvs_c": "c.2677_2679delGTCinsATT",
"hgvs_p": "p.Val893Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528389.1",
"strand": true,
"transcript": "ENST00000858330.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1687,
"aa_ref": "V",
"aa_start": 867,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6655,
"cdna_start": 2991,
"cds_end": null,
"cds_length": 5064,
"cds_start": 2599,
"consequences": [
"missense_variant"
],
"exon_count": 46,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000858329.1",
"gene_hgnc_id": 16636,
"gene_symbol": "KIF1B",
"hgvs_c": "c.2599_2601delGTCinsATT",
"hgvs_p": "p.Val867Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528388.1",
"strand": true,
"transcript": "ENST00000858329.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": null,
"effect": "missense_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 16636,
"gene_symbol": "KIF1B",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Pathogenic",
"phylop100way_score": 9.987,
"pos": 10334581,
"ref": "GTC",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": null,
"splice_score_selected": null,
"splice_source_selected": null,
"spliceai_max_prediction": null,
"spliceai_max_score": null,
"transcript": "NM_001365951.3"
}
]
}