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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: 1-10371166-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=10371166&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "KIF1B",
"hgnc_id": 16636,
"hgvs_c": "c.4850G>A",
"hgvs_p": "p.Arg1617Gln",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -4,
"transcript": "NM_001365951.3",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BS2",
"acmg_score": -4,
"allele_count_reference_population": 45,
"alphamissense_prediction": null,
"alphamissense_score": 0.1538,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.27,
"chr": "1",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "Charcot-Marie-Tooth disease type 2,not specified",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.25706028938293457,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1816,
"aa_ref": "R",
"aa_start": 1617,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10855,
"cdna_start": 5238,
"cds_end": null,
"cds_length": 5451,
"cds_start": 4850,
"consequences": [
"missense_variant"
],
"exon_count": 49,
"exon_rank": 45,
"exon_rank_end": null,
"feature": "NM_001365951.3",
"gene_hgnc_id": 16636,
"gene_symbol": "KIF1B",
"hgvs_c": "c.4850G>A",
"hgvs_p": "p.Arg1617Gln",
"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": "Q",
"aa_end": null,
"aa_length": 1816,
"aa_ref": "R",
"aa_start": 1617,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 10855,
"cdna_start": 5238,
"cds_end": null,
"cds_length": 5451,
"cds_start": 4850,
"consequences": [
"missense_variant"
],
"exon_count": 49,
"exon_rank": 45,
"exon_rank_end": null,
"feature": "ENST00000676179.1",
"gene_hgnc_id": 16636,
"gene_symbol": "KIF1B",
"hgvs_c": "c.4850G>A",
"hgvs_p": "p.Arg1617Gln",
"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": "Q",
"aa_end": null,
"aa_length": 1823,
"aa_ref": "R",
"aa_start": 1617,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8746,
"cdna_start": 4929,
"cds_end": null,
"cds_length": 5472,
"cds_start": 4850,
"consequences": [
"missense_variant"
],
"exon_count": 48,
"exon_rank": 44,
"exon_rank_end": null,
"feature": "ENST00000377081.5",
"gene_hgnc_id": 16636,
"gene_symbol": "KIF1B",
"hgvs_c": "c.4850G>A",
"hgvs_p": "p.Arg1617Gln",
"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": "Q",
"aa_end": null,
"aa_length": 1816,
"aa_ref": "R",
"aa_start": 1617,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10669,
"cdna_start": 5052,
"cds_end": null,
"cds_length": 5451,
"cds_start": 4850,
"consequences": [
"missense_variant"
],
"exon_count": 49,
"exon_rank": 45,
"exon_rank_end": null,
"feature": "ENST00000377086.5",
"gene_hgnc_id": 16636,
"gene_symbol": "KIF1B",
"hgvs_c": "c.4850G>A",
"hgvs_p": "p.Arg1617Gln",
"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": "Q",
"aa_end": null,
"aa_length": 1809,
"aa_ref": "R",
"aa_start": 1603,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8624,
"cdna_start": 4808,
"cds_end": null,
"cds_length": 5430,
"cds_start": 4808,
"consequences": [
"missense_variant"
],
"exon_count": 47,
"exon_rank": 43,
"exon_rank_end": null,
"feature": "ENST00000620295.2",
"gene_hgnc_id": 16636,
"gene_symbol": "KIF1B",
"hgvs_c": "c.4808G>A",
"hgvs_p": "p.Arg1603Gln",
"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": "Q",
"aa_end": null,
"aa_length": 1797,
"aa_ref": "R",
"aa_start": 1591,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8588,
"cdna_start": 4772,
"cds_end": null,
"cds_length": 5394,
"cds_start": 4772,
"consequences": [
"missense_variant"
],
"exon_count": 48,
"exon_rank": 44,
"exon_rank_end": null,
"feature": "ENST00000622724.3",
"gene_hgnc_id": 16636,
"gene_symbol": "KIF1B",
"hgvs_c": "c.4772G>A",
"hgvs_p": "p.Arg1591Gln",
"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": "Q",
"aa_end": null,
"aa_length": 1770,
"aa_ref": "R",
"aa_start": 1571,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6816,
"cdna_start": 4865,
"cds_end": null,
"cds_length": 5313,
"cds_start": 4712,
"consequences": [
"missense_variant"
],
"exon_count": 47,
"exon_rank": 43,
"exon_rank_end": null,
"feature": "ENST00000263934.10",
"gene_hgnc_id": 16636,
"gene_symbol": "KIF1B",
"hgvs_c": "c.4712G>A",
"hgvs_p": "p.Arg1571Gln",
"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": "Q",
"aa_end": null,
"aa_length": 1837,
"aa_ref": "R",
"aa_start": 1638,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7017,
"cdna_start": 5066,
"cds_end": null,
"cds_length": 5514,
"cds_start": 4913,
"consequences": [
"missense_variant"
],
"exon_count": 48,
"exon_rank": 44,
"exon_rank_end": null,
"feature": "ENST00000696502.1",
"gene_hgnc_id": 16636,
"gene_symbol": "KIF1B",
"hgvs_c": "c.4913G>A",
"hgvs_p": "p.Arg1638Gln",
"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": "Q",
"aa_end": null,
"aa_length": 1816,
"aa_ref": "R",
"aa_start": 1617,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10669,
"cdna_start": 5052,
"cds_end": null,
"cds_length": 5451,
"cds_start": 4850,
"consequences": [
"missense_variant"
],
"exon_count": 49,
"exon_rank": 45,
"exon_rank_end": null,
"feature": "NM_001365952.1",
"gene_hgnc_id": 16636,
"gene_symbol": "KIF1B",
"hgvs_c": "c.4850G>A",
"hgvs_p": "p.Arg1617Gln",
"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": "Q",
"aa_end": null,
"aa_length": 1810,
"aa_ref": "R",
"aa_start": 1611,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6109,
"cdna_start": 5206,
"cds_end": null,
"cds_length": 5433,
"cds_start": 4832,
"consequences": [
"missense_variant"
],
"exon_count": 48,
"exon_rank": 44,
"exon_rank_end": null,
"feature": "ENST00000858331.1",
"gene_hgnc_id": 16636,
"gene_symbol": "KIF1B",
"hgvs_c": "c.4832G>A",
"hgvs_p": "p.Arg1611Gln",
"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
},
{
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"aa_length": 1796,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10835,
"cdna_start": 5215,
"cds_end": null,
"cds_length": 5391,
"cds_start": 4790,
"consequences": [
"missense_variant"
],
"exon_count": 47,
"exon_rank": 43,
"exon_rank_end": null,
"feature": "ENST00000858327.1",
"gene_hgnc_id": 16636,
"gene_symbol": "KIF1B",
"hgvs_c": "c.4790G>A",
"hgvs_p": "p.Arg1597Gln",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528386.1",
"strand": true,
"transcript": "ENST00000858327.1",
"transcript_support_level": null
},
{
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"aa_length": 1791,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6879,
"cdna_start": 4928,
"cds_end": null,
"cds_length": 5376,
"cds_start": 4775,
"consequences": [
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],
"exon_count": 48,
"exon_rank": 44,
"exon_rank_end": null,
"feature": "ENST00000696503.1",
"gene_hgnc_id": 16636,
"gene_symbol": "KIF1B",
"hgvs_c": "c.4775G>A",
"hgvs_p": "p.Arg1592Gln",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000512669.1",
"strand": true,
"transcript": "ENST00000696503.1",
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},
{
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"cdna_start": 4928,
"cds_end": null,
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"consequences": [
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],
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"feature": "ENST00000696504.1",
"gene_hgnc_id": 16636,
"gene_symbol": "KIF1B",
"hgvs_c": "c.4775G>A",
"hgvs_p": "p.Arg1592Gln",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000512670.1",
"strand": true,
"transcript": "ENST00000696504.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_end": null,
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"cdna_start": 5165,
"cds_end": null,
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"consequences": [
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],
"exon_count": 49,
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"feature": "ENST00000858328.1",
"gene_hgnc_id": 16636,
"gene_symbol": "KIF1B",
"hgvs_c": "c.4772G>A",
"hgvs_p": "p.Arg1591Gln",
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000528387.1",
"strand": true,
"transcript": "ENST00000858328.1",
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},
{
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"cdna_start": 5145,
"cds_end": null,
"cds_length": 5355,
"cds_start": 4754,
"consequences": [
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],
"exon_count": 48,
"exon_rank": 44,
"exon_rank_end": null,
"feature": "ENST00000959020.1",
"gene_hgnc_id": 16636,
"gene_symbol": "KIF1B",
"hgvs_c": "c.4754G>A",
"hgvs_p": "p.Arg1585Gln",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000629079.1",
"strand": true,
"transcript": "ENST00000959020.1",
"transcript_support_level": null
},
{
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"aa_ref": "R",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 10581,
"cdna_start": 4964,
"cds_end": null,
"cds_length": 5313,
"cds_start": 4712,
"consequences": [
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],
"exon_count": 47,
"exon_rank": 43,
"exon_rank_end": null,
"feature": "NM_015074.3",
"gene_hgnc_id": 16636,
"gene_symbol": "KIF1B",
"hgvs_c": "c.4712G>A",
"hgvs_p": "p.Arg1571Gln",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_055889.2",
"strand": true,
"transcript": "NM_015074.3",
"transcript_support_level": null
},
{
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"cds_end": null,
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"consequences": [
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],
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"feature": "ENST00000858332.1",
"gene_hgnc_id": 16636,
"gene_symbol": "KIF1B",
"hgvs_c": "c.4583G>A",
"hgvs_p": "p.Arg1528Gln",
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"mane_plus": null,
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"protein_coding": true,
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"transcript": "ENST00000858332.1",
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},
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"consequences": [
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],
"exon_count": 46,
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"exon_rank_end": null,
"feature": "ENST00000858330.1",
"gene_hgnc_id": 16636,
"gene_symbol": "KIF1B",
"hgvs_c": "c.4541G>A",
"hgvs_p": "p.Arg1514Gln",
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"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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"biotype": "protein_coding",
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"cds_end": null,
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"consequences": [
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],
"exon_count": 46,
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"feature": "ENST00000858329.1",
"gene_hgnc_id": 16636,
"gene_symbol": "KIF1B",
"hgvs_c": "c.4463G>A",
"hgvs_p": "p.Arg1488Gln",
"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
},
{
"aa_alt": "Q",
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"aa_length": 497,
"aa_ref": "R",
"aa_start": 298,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2098,
"cdna_start": 895,
"cds_end": null,
"cds_length": 1494,
"cds_start": 893,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000635499.1",
"gene_hgnc_id": 16636,
"gene_symbol": "KIF1B",
"hgvs_c": "c.893G>A",
"hgvs_p": "p.Arg298Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000489057.1",
"strand": true,
"transcript": "ENST00000635499.1",
"transcript_support_level": 5
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs775481158",
"effect": "missense_variant",
"frequency_reference_population": 0.000027882596,
"gene_hgnc_id": 16636,
"gene_symbol": "KIF1B",
"gnomad_exomes_ac": 42,
"gnomad_exomes_af": 0.0000287303,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 3,
"gnomad_genomes_af": 0.0000197316,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Uncertain significance",
"phenotype_combined": "Charcot-Marie-Tooth disease type 2|not specified",
"phylop100way_prediction": "Pathogenic",
"phylop100way_score": 7.773,
"pos": 10371166,
"ref": "G",
"revel_prediction": "Benign",
"revel_score": 0.112,
"splice_prediction_selected": "Uncertain_significance",
"splice_score_selected": 0.4699999988079071,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Uncertain_significance",
"spliceai_max_score": 0.47,
"transcript": "NM_001365951.3"
}
]
}