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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: 1-10368475-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=10368475&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 10368475,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001365951.3",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1B",
"gene_hgnc_id": 16636,
"hgvs_c": "c.4761A>C",
"hgvs_p": "p.Gln1587His",
"transcript": "NM_001365951.3",
"protein_id": "NP_001352880.1",
"transcript_support_level": null,
"aa_start": 1587,
"aa_end": null,
"aa_length": 1816,
"cds_start": 4761,
"cds_end": null,
"cds_length": 5451,
"cdna_start": 5149,
"cdna_end": null,
"cdna_length": 10855,
"mane_select": "ENST00000676179.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001365951.3"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1B",
"gene_hgnc_id": 16636,
"hgvs_c": "c.4761A>C",
"hgvs_p": "p.Gln1587His",
"transcript": "ENST00000676179.1",
"protein_id": "ENSP00000502065.1",
"transcript_support_level": null,
"aa_start": 1587,
"aa_end": null,
"aa_length": 1816,
"cds_start": 4761,
"cds_end": null,
"cds_length": 5451,
"cdna_start": 5149,
"cdna_end": null,
"cdna_length": 10855,
"mane_select": "NM_001365951.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000676179.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1B",
"gene_hgnc_id": 16636,
"hgvs_c": "c.4761A>C",
"hgvs_p": "p.Gln1587His",
"transcript": "ENST00000377081.5",
"protein_id": "ENSP00000366284.1",
"transcript_support_level": 1,
"aa_start": 1587,
"aa_end": null,
"aa_length": 1823,
"cds_start": 4761,
"cds_end": null,
"cds_length": 5472,
"cdna_start": 4840,
"cdna_end": null,
"cdna_length": 8746,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000377081.5"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1B",
"gene_hgnc_id": 16636,
"hgvs_c": "c.4761A>C",
"hgvs_p": "p.Gln1587His",
"transcript": "ENST00000377086.5",
"protein_id": "ENSP00000366290.1",
"transcript_support_level": 1,
"aa_start": 1587,
"aa_end": null,
"aa_length": 1816,
"cds_start": 4761,
"cds_end": null,
"cds_length": 5451,
"cdna_start": 4963,
"cdna_end": null,
"cdna_length": 10669,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000377086.5"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1B",
"gene_hgnc_id": 16636,
"hgvs_c": "c.4719A>C",
"hgvs_p": "p.Gln1573His",
"transcript": "ENST00000620295.2",
"protein_id": "ENSP00000478500.1",
"transcript_support_level": 1,
"aa_start": 1573,
"aa_end": null,
"aa_length": 1809,
"cds_start": 4719,
"cds_end": null,
"cds_length": 5430,
"cdna_start": 4719,
"cdna_end": null,
"cdna_length": 8624,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000620295.2"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1B",
"gene_hgnc_id": 16636,
"hgvs_c": "c.4683A>C",
"hgvs_p": "p.Gln1561His",
"transcript": "ENST00000622724.3",
"protein_id": "ENSP00000480063.1",
"transcript_support_level": 1,
"aa_start": 1561,
"aa_end": null,
"aa_length": 1797,
"cds_start": 4683,
"cds_end": null,
"cds_length": 5394,
"cdna_start": 4683,
"cdna_end": null,
"cdna_length": 8588,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000622724.3"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1B",
"gene_hgnc_id": 16636,
"hgvs_c": "c.4623A>C",
"hgvs_p": "p.Gln1541His",
"transcript": "ENST00000263934.10",
"protein_id": "ENSP00000263934.6",
"transcript_support_level": 1,
"aa_start": 1541,
"aa_end": null,
"aa_length": 1770,
"cds_start": 4623,
"cds_end": null,
"cds_length": 5313,
"cdna_start": 4776,
"cdna_end": null,
"cdna_length": 6816,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000263934.10"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1B",
"gene_hgnc_id": 16636,
"hgvs_c": "c.4824A>C",
"hgvs_p": "p.Gln1608His",
"transcript": "ENST00000696502.1",
"protein_id": "ENSP00000512668.1",
"transcript_support_level": null,
"aa_start": 1608,
"aa_end": null,
"aa_length": 1837,
"cds_start": 4824,
"cds_end": null,
"cds_length": 5514,
"cdna_start": 4977,
"cdna_end": null,
"cdna_length": 7017,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000696502.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1B",
"gene_hgnc_id": 16636,
"hgvs_c": "c.4761A>C",
"hgvs_p": "p.Gln1587His",
"transcript": "NM_001365952.1",
"protein_id": "NP_001352881.1",
"transcript_support_level": null,
"aa_start": 1587,
"aa_end": null,
"aa_length": 1816,
"cds_start": 4761,
"cds_end": null,
"cds_length": 5451,
"cdna_start": 4963,
"cdna_end": null,
"cdna_length": 10669,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001365952.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1B",
"gene_hgnc_id": 16636,
"hgvs_c": "c.4743A>C",
"hgvs_p": "p.Gln1581His",
"transcript": "ENST00000858331.1",
"protein_id": "ENSP00000528390.1",
"transcript_support_level": null,
"aa_start": 1581,
"aa_end": null,
"aa_length": 1810,
"cds_start": 4743,
"cds_end": null,
"cds_length": 5433,
"cdna_start": 5117,
"cdna_end": null,
"cdna_length": 6109,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858331.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1B",
"gene_hgnc_id": 16636,
"hgvs_c": "c.4701A>C",
"hgvs_p": "p.Gln1567His",
"transcript": "ENST00000858327.1",
"protein_id": "ENSP00000528386.1",
"transcript_support_level": null,
"aa_start": 1567,
"aa_end": null,
"aa_length": 1796,
"cds_start": 4701,
"cds_end": null,
"cds_length": 5391,
"cdna_start": 5126,
"cdna_end": null,
"cdna_length": 10835,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858327.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1B",
"gene_hgnc_id": 16636,
"hgvs_c": "c.4686A>C",
"hgvs_p": "p.Gln1562His",
"transcript": "ENST00000696503.1",
"protein_id": "ENSP00000512669.1",
"transcript_support_level": null,
"aa_start": 1562,
"aa_end": null,
"aa_length": 1791,
"cds_start": 4686,
"cds_end": null,
"cds_length": 5376,
"cdna_start": 4839,
"cdna_end": null,
"cdna_length": 6879,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000696503.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1B",
"gene_hgnc_id": 16636,
"hgvs_c": "c.4686A>C",
"hgvs_p": "p.Gln1562His",
"transcript": "ENST00000696504.1",
"protein_id": "ENSP00000512670.1",
"transcript_support_level": null,
"aa_start": 1562,
"aa_end": null,
"aa_length": 1791,
"cds_start": 4686,
"cds_end": null,
"cds_length": 5376,
"cdna_start": 4839,
"cdna_end": null,
"cdna_length": 6879,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000696504.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1B",
"gene_hgnc_id": 16636,
"hgvs_c": "c.4683A>C",
"hgvs_p": "p.Gln1561His",
"transcript": "ENST00000858328.1",
"protein_id": "ENSP00000528387.1",
"transcript_support_level": null,
"aa_start": 1561,
"aa_end": null,
"aa_length": 1790,
"cds_start": 4683,
"cds_end": null,
"cds_length": 5373,
"cdna_start": 5076,
"cdna_end": null,
"cdna_length": 10776,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858328.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1B",
"gene_hgnc_id": 16636,
"hgvs_c": "c.4665A>C",
"hgvs_p": "p.Gln1555His",
"transcript": "ENST00000959020.1",
"protein_id": "ENSP00000629079.1",
"transcript_support_level": null,
"aa_start": 1555,
"aa_end": null,
"aa_length": 1784,
"cds_start": 4665,
"cds_end": null,
"cds_length": 5355,
"cdna_start": 5056,
"cdna_end": null,
"cdna_length": 5969,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959020.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1B",
"gene_hgnc_id": 16636,
"hgvs_c": "c.4623A>C",
"hgvs_p": "p.Gln1541His",
"transcript": "NM_015074.3",
"protein_id": "NP_055889.2",
"transcript_support_level": null,
"aa_start": 1541,
"aa_end": null,
"aa_length": 1770,
"cds_start": 4623,
"cds_end": null,
"cds_length": 5313,
"cdna_start": 4875,
"cdna_end": null,
"cdna_length": 10581,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015074.3"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1B",
"gene_hgnc_id": 16636,
"hgvs_c": "c.4494A>C",
"hgvs_p": "p.Gln1498His",
"transcript": "ENST00000858332.1",
"protein_id": "ENSP00000528391.1",
"transcript_support_level": null,
"aa_start": 1498,
"aa_end": null,
"aa_length": 1727,
"cds_start": 4494,
"cds_end": null,
"cds_length": 5184,
"cdna_start": 4829,
"cdna_end": null,
"cdna_length": 5577,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858332.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1B",
"gene_hgnc_id": 16636,
"hgvs_c": "c.4452A>C",
"hgvs_p": "p.Gln1484His",
"transcript": "ENST00000858330.1",
"protein_id": "ENSP00000528389.1",
"transcript_support_level": null,
"aa_start": 1484,
"aa_end": null,
"aa_length": 1713,
"cds_start": 4452,
"cds_end": null,
"cds_length": 5142,
"cdna_start": 4873,
"cdna_end": null,
"cdna_length": 5865,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858330.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1B",
"gene_hgnc_id": 16636,
"hgvs_c": "c.4374A>C",
"hgvs_p": "p.Gln1458His",
"transcript": "ENST00000858329.1",
"protein_id": "ENSP00000528388.1",
"transcript_support_level": null,
"aa_start": 1458,
"aa_end": null,
"aa_length": 1687,
"cds_start": 4374,
"cds_end": null,
"cds_length": 5064,
"cdna_start": 4766,
"cdna_end": null,
"cdna_length": 6655,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858329.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1B",
"gene_hgnc_id": 16636,
"hgvs_c": "c.804A>C",
"hgvs_p": "p.Gln268His",
"transcript": "ENST00000635499.1",
"protein_id": "ENSP00000489057.1",
"transcript_support_level": 5,
"aa_start": 268,
"aa_end": null,
"aa_length": 497,
"cds_start": 804,
"cds_end": null,
"cds_length": 1494,
"cdna_start": 806,
"cdna_end": null,
"cdna_length": 2098,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000635499.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1B",
"gene_hgnc_id": 16636,
"hgvs_c": "n.492A>C",
"hgvs_p": null,
"transcript": "ENST00000470616.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 519,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000470616.1"
}
],
"gene_symbol": "KIF1B",
"gene_hgnc_id": 16636,
"dbsnp": "rs960083901",
"frequency_reference_population": 6.8417233e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84172e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.1701606810092926,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.125,
"revel_prediction": "Benign",
"alphamissense_score": 0.2633,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.39,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.05,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001365951.3",
"gene_symbol": "KIF1B",
"hgnc_id": 16636,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.4761A>C",
"hgvs_p": "p.Gln1587His"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}