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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: 11-66265059-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=66265059&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 1,
"criteria": [
"PP3",
"BP4"
],
"effects": [
"missense_variant"
],
"gene_symbol": "KLC2",
"hgnc_id": 20716,
"hgvs_c": "c.1253G>A",
"hgvs_p": "p.Arg418Gln",
"inheritance_mode": "AR",
"pathogenic_score": 1,
"score": 0,
"transcript": "NM_022822.3",
"verdict": "Uncertain_significance"
},
{
"benign_score": 1,
"criteria": [
"PP3",
"BP4"
],
"effects": [
"intron_variant"
],
"gene_symbol": "KLC2-AS1",
"hgnc_id": 40934,
"hgvs_c": "n.393+84C>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 1,
"score": 0,
"transcript": "ENST00000530805.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3,BP4",
"acmg_score": 0,
"allele_count_reference_population": 36,
"alphamissense_prediction": null,
"alphamissense_score": 0.4372,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.25,
"chr": "11",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not provided,not specified",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.36786869168281555,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 622,
"aa_ref": "R",
"aa_start": 418,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2953,
"cdna_start": 1433,
"cds_end": null,
"cds_length": 1869,
"cds_start": 1253,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001318734.2",
"gene_hgnc_id": 20716,
"gene_symbol": "KLC2",
"hgvs_c": "c.1253G>A",
"hgvs_p": "p.Arg418Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000394067.7",
"protein_coding": true,
"protein_id": "NP_001305663.1",
"strand": true,
"transcript": "NM_001318734.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 622,
"aa_ref": "R",
"aa_start": 418,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2953,
"cdna_start": 1433,
"cds_end": null,
"cds_length": 1869,
"cds_start": 1253,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000394067.7",
"gene_hgnc_id": 20716,
"gene_symbol": "KLC2",
"hgvs_c": "c.1253G>A",
"hgvs_p": "p.Arg418Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001318734.2",
"protein_coding": true,
"protein_id": "ENSP00000377631.2",
"strand": true,
"transcript": "ENST00000394067.7",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 622,
"aa_ref": "R",
"aa_start": 418,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2990,
"cdna_start": 1470,
"cds_end": null,
"cds_length": 1869,
"cds_start": 1253,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000316924.9",
"gene_hgnc_id": 20716,
"gene_symbol": "KLC2",
"hgvs_c": "c.1253G>A",
"hgvs_p": "p.Arg418Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000314837.5",
"strand": true,
"transcript": "ENST00000316924.9",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 628,
"aa_ref": "R",
"aa_start": 418,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2944,
"cdna_start": 1406,
"cds_end": null,
"cds_length": 1887,
"cds_start": 1253,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000917341.1",
"gene_hgnc_id": 20716,
"gene_symbol": "KLC2",
"hgvs_c": "c.1253G>A",
"hgvs_p": "p.Arg418Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000587400.1",
"strand": true,
"transcript": "ENST00000917341.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 628,
"aa_ref": "R",
"aa_start": 418,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2904,
"cdna_start": 1368,
"cds_end": null,
"cds_length": 1887,
"cds_start": 1253,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000917343.1",
"gene_hgnc_id": 20716,
"gene_symbol": "KLC2",
"hgvs_c": "c.1253G>A",
"hgvs_p": "p.Arg418Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000587402.1",
"strand": true,
"transcript": "ENST00000917343.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 628,
"aa_ref": "R",
"aa_start": 424,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2937,
"cdna_start": 1426,
"cds_end": null,
"cds_length": 1887,
"cds_start": 1271,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000942287.1",
"gene_hgnc_id": 20716,
"gene_symbol": "KLC2",
"hgvs_c": "c.1271G>A",
"hgvs_p": "p.Arg424Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000612346.1",
"strand": true,
"transcript": "ENST00000942287.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 627,
"aa_ref": "R",
"aa_start": 418,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2940,
"cdna_start": 1405,
"cds_end": null,
"cds_length": 1884,
"cds_start": 1253,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000852034.1",
"gene_hgnc_id": 20716,
"gene_symbol": "KLC2",
"hgvs_c": "c.1253G>A",
"hgvs_p": "p.Arg418Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000522093.1",
"strand": true,
"transcript": "ENST00000852034.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 622,
"aa_ref": "R",
"aa_start": 418,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3022,
"cdna_start": 1502,
"cds_end": null,
"cds_length": 1869,
"cds_start": 1253,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001134775.2",
"gene_hgnc_id": 20716,
"gene_symbol": "KLC2",
"hgvs_c": "c.1253G>A",
"hgvs_p": "p.Arg418Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001128247.1",
"strand": true,
"transcript": "NM_001134775.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 622,
"aa_ref": "R",
"aa_start": 418,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2812,
"cdna_start": 1292,
"cds_end": null,
"cds_length": 1869,
"cds_start": 1253,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001134776.2",
"gene_hgnc_id": 20716,
"gene_symbol": "KLC2",
"hgvs_c": "c.1253G>A",
"hgvs_p": "p.Arg418Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001128248.1",
"strand": true,
"transcript": "NM_001134776.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 622,
"aa_ref": "R",
"aa_start": 418,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2990,
"cdna_start": 1470,
"cds_end": null,
"cds_length": 1869,
"cds_start": 1253,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_022822.3",
"gene_hgnc_id": 20716,
"gene_symbol": "KLC2",
"hgvs_c": "c.1253G>A",
"hgvs_p": "p.Arg418Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_073733.1",
"strand": true,
"transcript": "NM_022822.3",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 622,
"aa_ref": "R",
"aa_start": 418,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3015,
"cdna_start": 1496,
"cds_end": null,
"cds_length": 1869,
"cds_start": 1253,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000417856.5",
"gene_hgnc_id": 20716,
"gene_symbol": "KLC2",
"hgvs_c": "c.1253G>A",
"hgvs_p": "p.Arg418Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000399403.1",
"strand": true,
"transcript": "ENST00000417856.5",
"transcript_support_level": 5
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 622,
"aa_ref": "R",
"aa_start": 418,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2945,
"cdna_start": 1425,
"cds_end": null,
"cds_length": 1869,
"cds_start": 1253,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000852032.1",
"gene_hgnc_id": 20716,
"gene_symbol": "KLC2",
"hgvs_c": "c.1253G>A",
"hgvs_p": "p.Arg418Gln",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000522091.1",
"strand": true,
"transcript": "ENST00000852032.1",
"transcript_support_level": null
},
{
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"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2965,
"cdna_start": 1447,
"cds_end": null,
"cds_length": 1869,
"cds_start": 1253,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000852033.1",
"gene_hgnc_id": 20716,
"gene_symbol": "KLC2",
"hgvs_c": "c.1253G>A",
"hgvs_p": "p.Arg418Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000522092.1",
"strand": true,
"transcript": "ENST00000852033.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
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"aa_length": 622,
"aa_ref": "R",
"aa_start": 418,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2873,
"cdna_start": 1353,
"cds_end": null,
"cds_length": 1869,
"cds_start": 1253,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000852035.1",
"gene_hgnc_id": 20716,
"gene_symbol": "KLC2",
"hgvs_c": "c.1253G>A",
"hgvs_p": "p.Arg418Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000522094.1",
"strand": true,
"transcript": "ENST00000852035.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 622,
"aa_ref": "R",
"aa_start": 418,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2834,
"cdna_start": 1314,
"cds_end": null,
"cds_length": 1869,
"cds_start": 1253,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000852036.1",
"gene_hgnc_id": 20716,
"gene_symbol": "KLC2",
"hgvs_c": "c.1253G>A",
"hgvs_p": "p.Arg418Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000522095.1",
"strand": true,
"transcript": "ENST00000852036.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
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"aa_length": 622,
"aa_ref": "R",
"aa_start": 418,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3188,
"cdna_start": 1668,
"cds_end": null,
"cds_length": 1869,
"cds_start": 1253,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000917338.1",
"gene_hgnc_id": 20716,
"gene_symbol": "KLC2",
"hgvs_c": "c.1253G>A",
"hgvs_p": "p.Arg418Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000587397.1",
"strand": true,
"transcript": "ENST00000917338.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
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"aa_length": 622,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2930,
"cdna_start": 1410,
"cds_end": null,
"cds_length": 1869,
"cds_start": 1253,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000917339.1",
"gene_hgnc_id": 20716,
"gene_symbol": "KLC2",
"hgvs_c": "c.1253G>A",
"hgvs_p": "p.Arg418Gln",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000587398.1",
"strand": true,
"transcript": "ENST00000917339.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
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"aa_ref": "R",
"aa_start": 418,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2825,
"cdna_start": 1305,
"cds_end": null,
"cds_length": 1869,
"cds_start": 1253,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000917342.1",
"gene_hgnc_id": 20716,
"gene_symbol": "KLC2",
"hgvs_c": "c.1253G>A",
"hgvs_p": "p.Arg418Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000587401.1",
"strand": true,
"transcript": "ENST00000917342.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
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"aa_length": 622,
"aa_ref": "R",
"aa_start": 418,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3247,
"cdna_start": 1727,
"cds_end": null,
"cds_length": 1869,
"cds_start": 1253,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000917344.1",
"gene_hgnc_id": 20716,
"gene_symbol": "KLC2",
"hgvs_c": "c.1253G>A",
"hgvs_p": "p.Arg418Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000587403.1",
"strand": true,
"transcript": "ENST00000917344.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 622,
"aa_ref": "R",
"aa_start": 418,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2919,
"cdna_start": 1399,
"cds_end": null,
"cds_length": 1869,
"cds_start": 1253,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000917345.1",
"gene_hgnc_id": 20716,
"gene_symbol": "KLC2",
"hgvs_c": "c.1253G>A",
"hgvs_p": "p.Arg418Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000587404.1",
"strand": true,
"transcript": "ENST00000917345.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 622,
"aa_ref": "R",
"aa_start": 418,
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