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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: 1-10374389-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=10374389&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 10374389,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001365951.3",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1B",
"gene_hgnc_id": 16636,
"hgvs_c": "c.5020G>A",
"hgvs_p": "p.Glu1674Lys",
"transcript": "NM_001365951.3",
"protein_id": "NP_001352880.1",
"transcript_support_level": null,
"aa_start": 1674,
"aa_end": null,
"aa_length": 1816,
"cds_start": 5020,
"cds_end": null,
"cds_length": 5451,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000676179.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001365951.3"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1B",
"gene_hgnc_id": 16636,
"hgvs_c": "c.5020G>A",
"hgvs_p": "p.Glu1674Lys",
"transcript": "ENST00000676179.1",
"protein_id": "ENSP00000502065.1",
"transcript_support_level": null,
"aa_start": 1674,
"aa_end": null,
"aa_length": 1816,
"cds_start": 5020,
"cds_end": null,
"cds_length": 5451,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001365951.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000676179.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1B",
"gene_hgnc_id": 16636,
"hgvs_c": "c.5020G>A",
"hgvs_p": "p.Glu1674Lys",
"transcript": "ENST00000377081.5",
"protein_id": "ENSP00000366284.1",
"transcript_support_level": 1,
"aa_start": 1674,
"aa_end": null,
"aa_length": 1823,
"cds_start": 5020,
"cds_end": null,
"cds_length": 5472,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000377081.5"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1B",
"gene_hgnc_id": 16636,
"hgvs_c": "c.5020G>A",
"hgvs_p": "p.Glu1674Lys",
"transcript": "ENST00000377086.5",
"protein_id": "ENSP00000366290.1",
"transcript_support_level": 1,
"aa_start": 1674,
"aa_end": null,
"aa_length": 1816,
"cds_start": 5020,
"cds_end": null,
"cds_length": 5451,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000377086.5"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1B",
"gene_hgnc_id": 16636,
"hgvs_c": "c.4978G>A",
"hgvs_p": "p.Glu1660Lys",
"transcript": "ENST00000620295.2",
"protein_id": "ENSP00000478500.1",
"transcript_support_level": 1,
"aa_start": 1660,
"aa_end": null,
"aa_length": 1809,
"cds_start": 4978,
"cds_end": null,
"cds_length": 5430,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000620295.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1B",
"gene_hgnc_id": 16636,
"hgvs_c": "c.4942G>A",
"hgvs_p": "p.Glu1648Lys",
"transcript": "ENST00000622724.3",
"protein_id": "ENSP00000480063.1",
"transcript_support_level": 1,
"aa_start": 1648,
"aa_end": null,
"aa_length": 1797,
"cds_start": 4942,
"cds_end": null,
"cds_length": 5394,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000622724.3"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1B",
"gene_hgnc_id": 16636,
"hgvs_c": "c.4882G>A",
"hgvs_p": "p.Glu1628Lys",
"transcript": "ENST00000263934.10",
"protein_id": "ENSP00000263934.6",
"transcript_support_level": 1,
"aa_start": 1628,
"aa_end": null,
"aa_length": 1770,
"cds_start": 4882,
"cds_end": null,
"cds_length": 5313,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000263934.10"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1B",
"gene_hgnc_id": 16636,
"hgvs_c": "c.5083G>A",
"hgvs_p": "p.Glu1695Lys",
"transcript": "ENST00000696502.1",
"protein_id": "ENSP00000512668.1",
"transcript_support_level": null,
"aa_start": 1695,
"aa_end": null,
"aa_length": 1837,
"cds_start": 5083,
"cds_end": null,
"cds_length": 5514,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000696502.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1B",
"gene_hgnc_id": 16636,
"hgvs_c": "c.5020G>A",
"hgvs_p": "p.Glu1674Lys",
"transcript": "NM_001365952.1",
"protein_id": "NP_001352881.1",
"transcript_support_level": null,
"aa_start": 1674,
"aa_end": null,
"aa_length": 1816,
"cds_start": 5020,
"cds_end": null,
"cds_length": 5451,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001365952.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1B",
"gene_hgnc_id": 16636,
"hgvs_c": "c.5002G>A",
"hgvs_p": "p.Glu1668Lys",
"transcript": "ENST00000858331.1",
"protein_id": "ENSP00000528390.1",
"transcript_support_level": null,
"aa_start": 1668,
"aa_end": null,
"aa_length": 1810,
"cds_start": 5002,
"cds_end": null,
"cds_length": 5433,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858331.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1B",
"gene_hgnc_id": 16636,
"hgvs_c": "c.4960G>A",
"hgvs_p": "p.Glu1654Lys",
"transcript": "ENST00000858327.1",
"protein_id": "ENSP00000528386.1",
"transcript_support_level": null,
"aa_start": 1654,
"aa_end": null,
"aa_length": 1796,
"cds_start": 4960,
"cds_end": null,
"cds_length": 5391,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858327.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1B",
"gene_hgnc_id": 16636,
"hgvs_c": "c.4945G>A",
"hgvs_p": "p.Glu1649Lys",
"transcript": "ENST00000696503.1",
"protein_id": "ENSP00000512669.1",
"transcript_support_level": null,
"aa_start": 1649,
"aa_end": null,
"aa_length": 1791,
"cds_start": 4945,
"cds_end": null,
"cds_length": 5376,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000696503.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1B",
"gene_hgnc_id": 16636,
"hgvs_c": "c.4945G>A",
"hgvs_p": "p.Glu1649Lys",
"transcript": "ENST00000696504.1",
"protein_id": "ENSP00000512670.1",
"transcript_support_level": null,
"aa_start": 1649,
"aa_end": null,
"aa_length": 1791,
"cds_start": 4945,
"cds_end": null,
"cds_length": 5376,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000696504.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1B",
"gene_hgnc_id": 16636,
"hgvs_c": "c.4942G>A",
"hgvs_p": "p.Glu1648Lys",
"transcript": "ENST00000858328.1",
"protein_id": "ENSP00000528387.1",
"transcript_support_level": null,
"aa_start": 1648,
"aa_end": null,
"aa_length": 1790,
"cds_start": 4942,
"cds_end": null,
"cds_length": 5373,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858328.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1B",
"gene_hgnc_id": 16636,
"hgvs_c": "c.4924G>A",
"hgvs_p": "p.Glu1642Lys",
"transcript": "ENST00000959020.1",
"protein_id": "ENSP00000629079.1",
"transcript_support_level": null,
"aa_start": 1642,
"aa_end": null,
"aa_length": 1784,
"cds_start": 4924,
"cds_end": null,
"cds_length": 5355,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959020.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1B",
"gene_hgnc_id": 16636,
"hgvs_c": "c.4882G>A",
"hgvs_p": "p.Glu1628Lys",
"transcript": "NM_015074.3",
"protein_id": "NP_055889.2",
"transcript_support_level": null,
"aa_start": 1628,
"aa_end": null,
"aa_length": 1770,
"cds_start": 4882,
"cds_end": null,
"cds_length": 5313,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015074.3"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1B",
"gene_hgnc_id": 16636,
"hgvs_c": "c.4753G>A",
"hgvs_p": "p.Glu1585Lys",
"transcript": "ENST00000858332.1",
"protein_id": "ENSP00000528391.1",
"transcript_support_level": null,
"aa_start": 1585,
"aa_end": null,
"aa_length": 1727,
"cds_start": 4753,
"cds_end": null,
"cds_length": 5184,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858332.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1B",
"gene_hgnc_id": 16636,
"hgvs_c": "c.4711G>A",
"hgvs_p": "p.Glu1571Lys",
"transcript": "ENST00000858330.1",
"protein_id": "ENSP00000528389.1",
"transcript_support_level": null,
"aa_start": 1571,
"aa_end": null,
"aa_length": 1713,
"cds_start": 4711,
"cds_end": null,
"cds_length": 5142,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858330.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1B",
"gene_hgnc_id": 16636,
"hgvs_c": "c.4633G>A",
"hgvs_p": "p.Glu1545Lys",
"transcript": "ENST00000858329.1",
"protein_id": "ENSP00000528388.1",
"transcript_support_level": null,
"aa_start": 1545,
"aa_end": null,
"aa_length": 1687,
"cds_start": 4633,
"cds_end": null,
"cds_length": 5064,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858329.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1B",
"gene_hgnc_id": 16636,
"hgvs_c": "c.1063G>A",
"hgvs_p": "p.Glu355Lys",
"transcript": "ENST00000635499.1",
"protein_id": "ENSP00000489057.1",
"transcript_support_level": 5,
"aa_start": 355,
"aa_end": null,
"aa_length": 497,
"cds_start": 1063,
"cds_end": null,
"cds_length": 1494,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000635499.1"
}
],
"gene_symbol": "KIF1B",
"gene_hgnc_id": 16636,
"dbsnp": "rs143669846",
"frequency_reference_population": 0.0005470331,
"hom_count_reference_population": 5,
"allele_count_reference_population": 883,
"gnomad_exomes_af": 0.000303037,
"gnomad_genomes_af": 0.00288919,
"gnomad_exomes_ac": 443,
"gnomad_genomes_ac": 440,
"gnomad_exomes_homalt": 3,
"gnomad_genomes_homalt": 2,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.007891476154327393,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.216,
"revel_prediction": "Benign",
"alphamissense_score": 0.2529,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.19,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 9.351,
"phylop100way_prediction": "Pathogenic",
"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": -16,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS2",
"acmg_by_gene": [
{
"score": -16,
"benign_score": 16,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001365951.3",
"gene_symbol": "KIF1B",
"hgnc_id": 16636,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.5020G>A",
"hgvs_p": "p.Glu1674Lys"
}
],
"clinvar_disease": "Charcot-Marie-Tooth disease,Charcot-Marie-Tooth disease type 2,Neuroblastoma,not provided,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:3 B:2",
"phenotype_combined": "Neuroblastoma|Charcot-Marie-Tooth disease type 2|Charcot-Marie-Tooth disease|not provided|not specified",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}