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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: 16-57760325-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=57760325&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "KIFC3",
"hgnc_id": 6326,
"hgvs_c": "c.2390G>C",
"hgvs_p": "p.Arg797Pro",
"inheritance_mode": "AD",
"pathogenic_score": 3,
"score": 3,
"transcript": "NM_001318710.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_score": 3,
"allele_count_reference_population": 2,
"alphamissense_prediction": null,
"alphamissense_score": 0.2475,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.22,
"chr": "16",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.7734262347221375,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 826,
"aa_ref": "R",
"aa_start": 775,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3359,
"cdna_start": 2485,
"cds_end": null,
"cds_length": 2481,
"cds_start": 2324,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NM_001130100.2",
"gene_hgnc_id": 6326,
"gene_symbol": "KIFC3",
"hgvs_c": "c.2324G>C",
"hgvs_p": "p.Arg775Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000445690.7",
"protein_coding": true,
"protein_id": "NP_001123572.1",
"strand": false,
"transcript": "NM_001130100.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 826,
"aa_ref": "R",
"aa_start": 775,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3359,
"cdna_start": 2485,
"cds_end": null,
"cds_length": 2481,
"cds_start": 2324,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000445690.7",
"gene_hgnc_id": 6326,
"gene_symbol": "KIFC3",
"hgvs_c": "c.2324G>C",
"hgvs_p": "p.Arg775Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001130100.2",
"protein_coding": true,
"protein_id": "ENSP00000401696.2",
"strand": false,
"transcript": "ENST00000445690.7",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 833,
"aa_ref": "R",
"aa_start": 775,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3427,
"cdna_start": 2582,
"cds_end": null,
"cds_length": 2502,
"cds_start": 2324,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000379655.8",
"gene_hgnc_id": 6326,
"gene_symbol": "KIFC3",
"hgvs_c": "c.2324G>C",
"hgvs_p": "p.Arg775Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000368976.4",
"strand": false,
"transcript": "ENST00000379655.8",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 687,
"aa_ref": "R",
"aa_start": 636,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3225,
"cdna_start": 2351,
"cds_end": null,
"cds_length": 2064,
"cds_start": 1907,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000465878.6",
"gene_hgnc_id": 6326,
"gene_symbol": "KIFC3",
"hgvs_c": "c.1907G>C",
"hgvs_p": "p.Arg636Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000454659.1",
"strand": false,
"transcript": "ENST00000465878.6",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 687,
"aa_ref": "R",
"aa_start": 636,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3221,
"cdna_start": 2850,
"cds_end": null,
"cds_length": 2064,
"cds_start": 1907,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000562903.5",
"gene_hgnc_id": 6326,
"gene_symbol": "KIFC3",
"hgvs_c": "c.1907G>C",
"hgvs_p": "p.Arg636Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000456239.1",
"strand": false,
"transcript": "ENST00000562903.5",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 915,
"aa_ref": "R",
"aa_start": 864,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3562,
"cdna_start": 2692,
"cds_end": null,
"cds_length": 2748,
"cds_start": 2591,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000950450.1",
"gene_hgnc_id": 6326,
"gene_symbol": "KIFC3",
"hgvs_c": "c.2591G>C",
"hgvs_p": "p.Arg864Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000620509.1",
"strand": false,
"transcript": "ENST00000950450.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 905,
"aa_ref": "R",
"aa_start": 854,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3030,
"cdna_start": 2675,
"cds_end": null,
"cds_length": 2718,
"cds_start": 2561,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000950452.1",
"gene_hgnc_id": 6326,
"gene_symbol": "KIFC3",
"hgvs_c": "c.2561G>C",
"hgvs_p": "p.Arg854Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000620511.1",
"strand": false,
"transcript": "ENST00000950452.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 848,
"aa_ref": "R",
"aa_start": 797,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3505,
"cdna_start": 2631,
"cds_end": null,
"cds_length": 2547,
"cds_start": 2390,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NM_001318710.2",
"gene_hgnc_id": 6326,
"gene_symbol": "KIFC3",
"hgvs_c": "c.2390G>C",
"hgvs_p": "p.Arg797Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001305639.1",
"strand": false,
"transcript": "NM_001318710.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 848,
"aa_ref": "R",
"aa_start": 797,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3047,
"cdna_start": 2401,
"cds_end": null,
"cds_length": 2547,
"cds_start": 2390,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000541240.5",
"gene_hgnc_id": 6326,
"gene_symbol": "KIFC3",
"hgvs_c": "c.2390G>C",
"hgvs_p": "p.Arg797Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000442008.1",
"strand": false,
"transcript": "ENST00000541240.5",
"transcript_support_level": 2
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 833,
"aa_ref": "R",
"aa_start": 775,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3330,
"cdna_start": 2485,
"cds_end": null,
"cds_length": 2502,
"cds_start": 2324,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NM_005550.4",
"gene_hgnc_id": 6326,
"gene_symbol": "KIFC3",
"hgvs_c": "c.2324G>C",
"hgvs_p": "p.Arg775Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_005541.3",
"strand": false,
"transcript": "NM_005550.4",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 826,
"aa_ref": "R",
"aa_start": 775,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3366,
"cdna_start": 2493,
"cds_end": null,
"cds_length": 2481,
"cds_start": 2324,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000874177.1",
"gene_hgnc_id": 6326,
"gene_symbol": "KIFC3",
"hgvs_c": "c.2324G>C",
"hgvs_p": "p.Arg775Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000544236.1",
"strand": false,
"transcript": "ENST00000874177.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 826,
"aa_ref": "R",
"aa_start": 775,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3413,
"cdna_start": 2541,
"cds_end": null,
"cds_length": 2481,
"cds_start": 2324,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000874178.1",
"gene_hgnc_id": 6326,
"gene_symbol": "KIFC3",
"hgvs_c": "c.2324G>C",
"hgvs_p": "p.Arg775Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000544237.1",
"strand": false,
"transcript": "ENST00000874178.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
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"aa_length": 826,
"aa_ref": "R",
"aa_start": 775,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3484,
"cdna_start": 2610,
"cds_end": null,
"cds_length": 2481,
"cds_start": 2324,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000874179.1",
"gene_hgnc_id": 6326,
"gene_symbol": "KIFC3",
"hgvs_c": "c.2324G>C",
"hgvs_p": "p.Arg775Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000544238.1",
"strand": false,
"transcript": "ENST00000874179.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 826,
"aa_ref": "R",
"aa_start": 775,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3547,
"cdna_start": 2673,
"cds_end": null,
"cds_length": 2481,
"cds_start": 2324,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000874180.1",
"gene_hgnc_id": 6326,
"gene_symbol": "KIFC3",
"hgvs_c": "c.2324G>C",
"hgvs_p": "p.Arg775Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000544239.1",
"strand": false,
"transcript": "ENST00000874180.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
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"aa_length": 826,
"aa_ref": "R",
"aa_start": 775,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3534,
"cdna_start": 2445,
"cds_end": null,
"cds_length": 2481,
"cds_start": 2324,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000874183.1",
"gene_hgnc_id": 6326,
"gene_symbol": "KIFC3",
"hgvs_c": "c.2324G>C",
"hgvs_p": "p.Arg775Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000544242.1",
"strand": false,
"transcript": "ENST00000874183.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 826,
"aa_ref": "R",
"aa_start": 775,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3291,
"cdna_start": 2422,
"cds_end": null,
"cds_length": 2481,
"cds_start": 2324,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000950449.1",
"gene_hgnc_id": 6326,
"gene_symbol": "KIFC3",
"hgvs_c": "c.2324G>C",
"hgvs_p": "p.Arg775Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000620508.1",
"strand": false,
"transcript": "ENST00000950449.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 822,
"aa_ref": "R",
"aa_start": 771,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3350,
"cdna_start": 2476,
"cds_end": null,
"cds_length": 2469,
"cds_start": 2312,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000874182.1",
"gene_hgnc_id": 6326,
"gene_symbol": "KIFC3",
"hgvs_c": "c.2312G>C",
"hgvs_p": "p.Arg771Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000544241.1",
"strand": false,
"transcript": "ENST00000874182.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
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"aa_length": 816,
"aa_ref": "R",
"aa_start": 765,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3263,
"cdna_start": 2391,
"cds_end": null,
"cds_length": 2451,
"cds_start": 2294,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000950451.1",
"gene_hgnc_id": 6326,
"gene_symbol": "KIFC3",
"hgvs_c": "c.2294G>C",
"hgvs_p": "p.Arg765Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000620510.1",
"strand": false,
"transcript": "ENST00000950451.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
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"aa_length": 810,
"aa_ref": "R",
"aa_start": 759,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3256,
"cdna_start": 2384,
"cds_end": null,
"cds_length": 2433,
"cds_start": 2276,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000950448.1",
"gene_hgnc_id": 6326,
"gene_symbol": "KIFC3",
"hgvs_c": "c.2276G>C",
"hgvs_p": "p.Arg759Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000620507.1",
"strand": false,
"transcript": "ENST00000950448.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 801,
"aa_ref": "R",
"aa_start": 750,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3274,
"cdna_start": 2404,
"cds_end": null,
"cds_length": 2406,
"cds_start": 2249,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000950446.1",
"gene_hgnc_id": 6326,
"gene_symbol": "KIFC3",
"hgvs_c": "c.2249G>C",
"hgvs_p": "p.Arg750Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000620505.1",
"strand": false,
"transcript": "ENST00000950446.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 768,
"aa_ref": "R",
"aa_start": 717,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3549,
"cdna_start": 2675,
"cds_end": null,
"cds_length": 2307,
"cds_start": 2150,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NM_001318711.2",
"gene_hgnc_id": 6326,
"gene_symbol": "KIFC3",
"hgvs_c": "c.2150G>C",
"hgvs_p": "p.Arg717Pro",
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