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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: 1-10365418-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=10365418&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 7,
"criteria": [
"BP4_Moderate",
"BP6",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "KIF1B",
"hgnc_id": 16636,
"hgvs_c": "c.4522A>G",
"hgvs_p": "p.Thr1508Ala",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -7,
"transcript": "NM_001365951.3",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6,BS2",
"acmg_score": -7,
"allele_count_reference_population": 41,
"alphamissense_prediction": null,
"alphamissense_score": 0.5423,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0.06,
"chr": "1",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_disease": "Charcot-Marie-Tooth disease type 2,not provided,not specified",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:2 LB:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.18593913316726685,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1816,
"aa_ref": "T",
"aa_start": 1508,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10855,
"cdna_start": 4910,
"cds_end": null,
"cds_length": 5451,
"cds_start": 4522,
"consequences": [
"missense_variant"
],
"exon_count": 49,
"exon_rank": 43,
"exon_rank_end": null,
"feature": "NM_001365951.3",
"gene_hgnc_id": 16636,
"gene_symbol": "KIF1B",
"hgvs_c": "c.4522A>G",
"hgvs_p": "p.Thr1508Ala",
"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": "A",
"aa_end": null,
"aa_length": 1816,
"aa_ref": "T",
"aa_start": 1508,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 10855,
"cdna_start": 4910,
"cds_end": null,
"cds_length": 5451,
"cds_start": 4522,
"consequences": [
"missense_variant"
],
"exon_count": 49,
"exon_rank": 43,
"exon_rank_end": null,
"feature": "ENST00000676179.1",
"gene_hgnc_id": 16636,
"gene_symbol": "KIF1B",
"hgvs_c": "c.4522A>G",
"hgvs_p": "p.Thr1508Ala",
"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": "A",
"aa_end": null,
"aa_length": 1823,
"aa_ref": "T",
"aa_start": 1508,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8746,
"cdna_start": 4601,
"cds_end": null,
"cds_length": 5472,
"cds_start": 4522,
"consequences": [
"missense_variant"
],
"exon_count": 48,
"exon_rank": 42,
"exon_rank_end": null,
"feature": "ENST00000377081.5",
"gene_hgnc_id": 16636,
"gene_symbol": "KIF1B",
"hgvs_c": "c.4522A>G",
"hgvs_p": "p.Thr1508Ala",
"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": "A",
"aa_end": null,
"aa_length": 1816,
"aa_ref": "T",
"aa_start": 1508,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10669,
"cdna_start": 4724,
"cds_end": null,
"cds_length": 5451,
"cds_start": 4522,
"consequences": [
"missense_variant"
],
"exon_count": 49,
"exon_rank": 43,
"exon_rank_end": null,
"feature": "ENST00000377086.5",
"gene_hgnc_id": 16636,
"gene_symbol": "KIF1B",
"hgvs_c": "c.4522A>G",
"hgvs_p": "p.Thr1508Ala",
"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": "A",
"aa_end": null,
"aa_length": 1809,
"aa_ref": "T",
"aa_start": 1494,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8624,
"cdna_start": 4480,
"cds_end": null,
"cds_length": 5430,
"cds_start": 4480,
"consequences": [
"missense_variant"
],
"exon_count": 47,
"exon_rank": 41,
"exon_rank_end": null,
"feature": "ENST00000620295.2",
"gene_hgnc_id": 16636,
"gene_symbol": "KIF1B",
"hgvs_c": "c.4480A>G",
"hgvs_p": "p.Thr1494Ala",
"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": "A",
"aa_end": null,
"aa_length": 1797,
"aa_ref": "T",
"aa_start": 1482,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8588,
"cdna_start": 4444,
"cds_end": null,
"cds_length": 5394,
"cds_start": 4444,
"consequences": [
"missense_variant"
],
"exon_count": 48,
"exon_rank": 42,
"exon_rank_end": null,
"feature": "ENST00000622724.3",
"gene_hgnc_id": 16636,
"gene_symbol": "KIF1B",
"hgvs_c": "c.4444A>G",
"hgvs_p": "p.Thr1482Ala",
"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": "A",
"aa_end": null,
"aa_length": 1770,
"aa_ref": "T",
"aa_start": 1462,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6816,
"cdna_start": 4537,
"cds_end": null,
"cds_length": 5313,
"cds_start": 4384,
"consequences": [
"missense_variant"
],
"exon_count": 47,
"exon_rank": 41,
"exon_rank_end": null,
"feature": "ENST00000263934.10",
"gene_hgnc_id": 16636,
"gene_symbol": "KIF1B",
"hgvs_c": "c.4384A>G",
"hgvs_p": "p.Thr1462Ala",
"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": "A",
"aa_end": null,
"aa_length": 1837,
"aa_ref": "T",
"aa_start": 1529,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7017,
"cdna_start": 4738,
"cds_end": null,
"cds_length": 5514,
"cds_start": 4585,
"consequences": [
"missense_variant"
],
"exon_count": 48,
"exon_rank": 42,
"exon_rank_end": null,
"feature": "ENST00000696502.1",
"gene_hgnc_id": 16636,
"gene_symbol": "KIF1B",
"hgvs_c": "c.4585A>G",
"hgvs_p": "p.Thr1529Ala",
"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": "A",
"aa_end": null,
"aa_length": 1816,
"aa_ref": "T",
"aa_start": 1508,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10669,
"cdna_start": 4724,
"cds_end": null,
"cds_length": 5451,
"cds_start": 4522,
"consequences": [
"missense_variant"
],
"exon_count": 49,
"exon_rank": 43,
"exon_rank_end": null,
"feature": "NM_001365952.1",
"gene_hgnc_id": 16636,
"gene_symbol": "KIF1B",
"hgvs_c": "c.4522A>G",
"hgvs_p": "p.Thr1508Ala",
"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": "A",
"aa_end": null,
"aa_length": 1810,
"aa_ref": "T",
"aa_start": 1502,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6109,
"cdna_start": 4878,
"cds_end": null,
"cds_length": 5433,
"cds_start": 4504,
"consequences": [
"missense_variant"
],
"exon_count": 48,
"exon_rank": 42,
"exon_rank_end": null,
"feature": "ENST00000858331.1",
"gene_hgnc_id": 16636,
"gene_symbol": "KIF1B",
"hgvs_c": "c.4504A>G",
"hgvs_p": "p.Thr1502Ala",
"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": "A",
"aa_end": null,
"aa_length": 1796,
"aa_ref": "T",
"aa_start": 1488,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10835,
"cdna_start": 4887,
"cds_end": null,
"cds_length": 5391,
"cds_start": 4462,
"consequences": [
"missense_variant"
],
"exon_count": 47,
"exon_rank": 41,
"exon_rank_end": null,
"feature": "ENST00000858327.1",
"gene_hgnc_id": 16636,
"gene_symbol": "KIF1B",
"hgvs_c": "c.4462A>G",
"hgvs_p": "p.Thr1488Ala",
"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": "A",
"aa_end": null,
"aa_length": 1791,
"aa_ref": "T",
"aa_start": 1483,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6879,
"cdna_start": 4600,
"cds_end": null,
"cds_length": 5376,
"cds_start": 4447,
"consequences": [
"missense_variant"
],
"exon_count": 48,
"exon_rank": 42,
"exon_rank_end": null,
"feature": "ENST00000696503.1",
"gene_hgnc_id": 16636,
"gene_symbol": "KIF1B",
"hgvs_c": "c.4447A>G",
"hgvs_p": "p.Thr1483Ala",
"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": "A",
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"aa_length": 1791,
"aa_ref": "T",
"aa_start": 1483,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6879,
"cdna_start": 4600,
"cds_end": null,
"cds_length": 5376,
"cds_start": 4447,
"consequences": [
"missense_variant"
],
"exon_count": 48,
"exon_rank": 42,
"exon_rank_end": null,
"feature": "ENST00000696504.1",
"gene_hgnc_id": 16636,
"gene_symbol": "KIF1B",
"hgvs_c": "c.4447A>G",
"hgvs_p": "p.Thr1483Ala",
"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": "A",
"aa_end": null,
"aa_length": 1790,
"aa_ref": "T",
"aa_start": 1482,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10776,
"cdna_start": 4837,
"cds_end": null,
"cds_length": 5373,
"cds_start": 4444,
"consequences": [
"missense_variant"
],
"exon_count": 49,
"exon_rank": 43,
"exon_rank_end": null,
"feature": "ENST00000858328.1",
"gene_hgnc_id": 16636,
"gene_symbol": "KIF1B",
"hgvs_c": "c.4444A>G",
"hgvs_p": "p.Thr1482Ala",
"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": "A",
"aa_end": null,
"aa_length": 1784,
"aa_ref": "T",
"aa_start": 1476,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5969,
"cdna_start": 4817,
"cds_end": null,
"cds_length": 5355,
"cds_start": 4426,
"consequences": [
"missense_variant"
],
"exon_count": 48,
"exon_rank": 42,
"exon_rank_end": null,
"feature": "ENST00000959020.1",
"gene_hgnc_id": 16636,
"gene_symbol": "KIF1B",
"hgvs_c": "c.4426A>G",
"hgvs_p": "p.Thr1476Ala",
"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": "A",
"aa_end": null,
"aa_length": 1770,
"aa_ref": "T",
"aa_start": 1462,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10581,
"cdna_start": 4636,
"cds_end": null,
"cds_length": 5313,
"cds_start": 4384,
"consequences": [
"missense_variant"
],
"exon_count": 47,
"exon_rank": 41,
"exon_rank_end": null,
"feature": "NM_015074.3",
"gene_hgnc_id": 16636,
"gene_symbol": "KIF1B",
"hgvs_c": "c.4384A>G",
"hgvs_p": "p.Thr1462Ala",
"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": "A",
"aa_end": null,
"aa_length": 1727,
"aa_ref": "T",
"aa_start": 1419,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5577,
"cdna_start": 4590,
"cds_end": null,
"cds_length": 5184,
"cds_start": 4255,
"consequences": [
"missense_variant"
],
"exon_count": 47,
"exon_rank": 41,
"exon_rank_end": null,
"feature": "ENST00000858332.1",
"gene_hgnc_id": 16636,
"gene_symbol": "KIF1B",
"hgvs_c": "c.4255A>G",
"hgvs_p": "p.Thr1419Ala",
"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": "A",
"aa_end": null,
"aa_length": 1713,
"aa_ref": "T",
"aa_start": 1405,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5865,
"cdna_start": 4634,
"cds_end": null,
"cds_length": 5142,
"cds_start": 4213,
"consequences": [
"missense_variant"
],
"exon_count": 46,
"exon_rank": 40,
"exon_rank_end": null,
"feature": "ENST00000858330.1",
"gene_hgnc_id": 16636,
"gene_symbol": "KIF1B",
"hgvs_c": "c.4213A>G",
"hgvs_p": "p.Thr1405Ala",
"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": "A",
"aa_end": null,
"aa_length": 1687,
"aa_ref": "T",
"aa_start": 1379,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6655,
"cdna_start": 4527,
"cds_end": null,
"cds_length": 5064,
"cds_start": 4135,
"consequences": [
"missense_variant"
],
"exon_count": 46,
"exon_rank": 40,
"exon_rank_end": null,
"feature": "ENST00000858329.1",
"gene_hgnc_id": 16636,
"gene_symbol": "KIF1B",
"hgvs_c": "c.4135A>G",
"hgvs_p": "p.Thr1379Ala",
"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": "A",
"aa_end": null,
"aa_length": 497,
"aa_ref": "T",
"aa_start": 189,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2098,
"cdna_start": 567,
"cds_end": null,
"cds_length": 1494,
"cds_start": 565,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000635499.1",
"gene_hgnc_id": 16636,
"gene_symbol": "KIF1B",
"hgvs_c": "c.565A>G",
"hgvs_p": "p.Thr189Ala",
"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
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 519,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 2,
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}
],
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"phenotype_combined": "Charcot-Marie-Tooth disease type 2|not provided|not specified",
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}
]
}