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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: 1-10337212-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=10337212&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 16,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS2"
],
"effects": [
"intron_variant"
],
"gene_symbol": "KIF1B",
"hgnc_id": 16636,
"hgvs_c": "c.3259+9A>G",
"hgvs_p": null,
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -16,
"transcript": "NM_001365951.3",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS2",
"acmg_score": -16,
"allele_count_reference_population": 3050,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.76,
"chr": "1",
"clinvar_classification": "Benign/Likely benign",
"clinvar_disease": "Charcot-Marie-Tooth disease,Charcot-Marie-Tooth disease type 2,Neuroblastoma,not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:3 B:2",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.7599999904632568,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1816,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10855,
"cdna_start": null,
"cds_end": null,
"cds_length": 5451,
"cds_start": null,
"consequences": [
"intron_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.3259+9A>G",
"hgvs_p": null,
"intron_rank": 30,
"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": null,
"aa_end": null,
"aa_length": 1816,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 10855,
"cdna_start": null,
"cds_end": null,
"cds_length": 5451,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 49,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000676179.1",
"gene_hgnc_id": 16636,
"gene_symbol": "KIF1B",
"hgvs_c": "c.3259+9A>G",
"hgvs_p": null,
"intron_rank": 30,
"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": null,
"aa_end": null,
"aa_length": 1823,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8746,
"cdna_start": null,
"cds_end": null,
"cds_length": 5472,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 48,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000377081.5",
"gene_hgnc_id": 16636,
"gene_symbol": "KIF1B",
"hgvs_c": "c.3259+9A>G",
"hgvs_p": null,
"intron_rank": 29,
"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": null,
"aa_end": null,
"aa_length": 1816,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10669,
"cdna_start": null,
"cds_end": null,
"cds_length": 5451,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 49,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000377086.5",
"gene_hgnc_id": 16636,
"gene_symbol": "KIF1B",
"hgvs_c": "c.3259+9A>G",
"hgvs_p": null,
"intron_rank": 30,
"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": null,
"aa_end": null,
"aa_length": 1809,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8624,
"cdna_start": null,
"cds_end": null,
"cds_length": 5430,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 47,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000620295.2",
"gene_hgnc_id": 16636,
"gene_symbol": "KIF1B",
"hgvs_c": "c.3217+9A>G",
"hgvs_p": null,
"intron_rank": 28,
"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": null,
"aa_end": null,
"aa_length": 1797,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8588,
"cdna_start": null,
"cds_end": null,
"cds_length": 5394,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 48,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000622724.3",
"gene_hgnc_id": 16636,
"gene_symbol": "KIF1B",
"hgvs_c": "c.3181+9A>G",
"hgvs_p": null,
"intron_rank": 29,
"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": null,
"aa_end": null,
"aa_length": 1770,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6816,
"cdna_start": null,
"cds_end": null,
"cds_length": 5313,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 47,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000263934.10",
"gene_hgnc_id": 16636,
"gene_symbol": "KIF1B",
"hgvs_c": "c.3121+9A>G",
"hgvs_p": null,
"intron_rank": 28,
"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": null,
"aa_end": null,
"aa_length": 1837,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7017,
"cdna_start": null,
"cds_end": null,
"cds_length": 5514,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 48,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000696502.1",
"gene_hgnc_id": 16636,
"gene_symbol": "KIF1B",
"hgvs_c": "c.3121+9A>G",
"hgvs_p": null,
"intron_rank": 28,
"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": null,
"aa_end": null,
"aa_length": 1816,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10669,
"cdna_start": null,
"cds_end": null,
"cds_length": 5451,
"cds_start": null,
"consequences": [
"intron_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.3259+9A>G",
"hgvs_p": null,
"intron_rank": 30,
"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": null,
"aa_end": null,
"aa_length": 1810,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6109,
"cdna_start": null,
"cds_end": null,
"cds_length": 5433,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 48,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000858331.1",
"gene_hgnc_id": 16636,
"gene_symbol": "KIF1B",
"hgvs_c": "c.3241+9A>G",
"hgvs_p": null,
"intron_rank": 29,
"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": null,
"aa_end": null,
"aa_length": 1796,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10835,
"cdna_start": null,
"cds_end": null,
"cds_length": 5391,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 47,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000858327.1",
"gene_hgnc_id": 16636,
"gene_symbol": "KIF1B",
"hgvs_c": "c.3199+9A>G",
"hgvs_p": null,
"intron_rank": 28,
"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": null,
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"aa_length": 1791,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6879,
"cdna_start": null,
"cds_end": null,
"cds_length": 5376,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 48,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000696503.1",
"gene_hgnc_id": 16636,
"gene_symbol": "KIF1B",
"hgvs_c": "c.3184+9A>G",
"hgvs_p": null,
"intron_rank": 29,
"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
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6879,
"cdna_start": null,
"cds_end": null,
"cds_length": 5376,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 48,
"exon_rank": null,
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"feature": "ENST00000696504.1",
"gene_hgnc_id": 16636,
"gene_symbol": "KIF1B",
"hgvs_c": "c.3184+9A>G",
"hgvs_p": null,
"intron_rank": 29,
"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": null,
"aa_end": null,
"aa_length": 1790,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10776,
"cdna_start": null,
"cds_end": null,
"cds_length": 5373,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 49,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000858328.1",
"gene_hgnc_id": 16636,
"gene_symbol": "KIF1B",
"hgvs_c": "c.3181+9A>G",
"hgvs_p": null,
"intron_rank": 30,
"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
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5969,
"cdna_start": null,
"cds_end": null,
"cds_length": 5355,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 48,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000959020.1",
"gene_hgnc_id": 16636,
"gene_symbol": "KIF1B",
"hgvs_c": "c.3163+9A>G",
"hgvs_p": null,
"intron_rank": 29,
"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": null,
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10581,
"cdna_start": null,
"cds_end": null,
"cds_length": 5313,
"cds_start": null,
"consequences": [
"intron_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.3121+9A>G",
"hgvs_p": null,
"intron_rank": 28,
"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": null,
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5577,
"cdna_start": null,
"cds_end": null,
"cds_length": 5184,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 47,
"exon_rank": null,
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"feature": "ENST00000858332.1",
"gene_hgnc_id": 16636,
"gene_symbol": "KIF1B",
"hgvs_c": "c.2992+9A>G",
"hgvs_p": null,
"intron_rank": 28,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000528391.1",
"strand": true,
"transcript": "ENST00000858332.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5865,
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 46,
"exon_rank": null,
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"feature": "ENST00000858330.1",
"gene_hgnc_id": 16636,
"gene_symbol": "KIF1B",
"hgvs_c": "c.2950+9A>G",
"hgvs_p": null,
"intron_rank": 27,
"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
},
{
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"aa_length": 1687,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6655,
"cdna_start": null,
"cds_end": null,
"cds_length": 5064,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 46,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000858329.1",
"gene_hgnc_id": 16636,
"gene_symbol": "KIF1B",
"hgvs_c": "c.2872+9A>G",
"hgvs_p": null,
"intron_rank": 27,
"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": "rs149566646",
"effect": "intron_variant",
"frequency_reference_population": 0.0018895323,
"gene_hgnc_id": 16636,
"gene_symbol": "KIF1B",
"gnomad_exomes_ac": 2880,
"gnomad_exomes_af": 0.00197007,
"gnomad_exomes_homalt": 5,
"gnomad_genomes_ac": 170,
"gnomad_genomes_af": 0.00111638,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 5,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Benign/Likely benign",
"phenotype_combined": "Neuroblastoma|Charcot-Marie-Tooth disease type 2|Charcot-Marie-Tooth disease|not provided",
"phylop100way_prediction": "Benign",
"phylop100way_score": 1.212,
"pos": 10337212,
"ref": "A",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_001365951.3"
}
]
}