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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: 20-13801652-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=13801652&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 13801652,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000378106.10",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFAF5",
"gene_hgnc_id": 15899,
"hgvs_c": "c.686T>C",
"hgvs_p": "p.Leu229Pro",
"transcript": "NM_024120.5",
"protein_id": "NP_077025.2",
"transcript_support_level": null,
"aa_start": 229,
"aa_end": null,
"aa_length": 345,
"cds_start": 686,
"cds_end": null,
"cds_length": 1038,
"cdna_start": 727,
"cdna_end": null,
"cdna_length": 5449,
"mane_select": "ENST00000378106.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFAF5",
"gene_hgnc_id": 15899,
"hgvs_c": "c.686T>C",
"hgvs_p": "p.Leu229Pro",
"transcript": "ENST00000378106.10",
"protein_id": "ENSP00000367346.5",
"transcript_support_level": 1,
"aa_start": 229,
"aa_end": null,
"aa_length": 345,
"cds_start": 686,
"cds_end": null,
"cds_length": 1038,
"cdna_start": 727,
"cdna_end": null,
"cdna_length": 5449,
"mane_select": "NM_024120.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFAF5",
"gene_hgnc_id": 15899,
"hgvs_c": "c.602T>C",
"hgvs_p": "p.Leu201Pro",
"transcript": "ENST00000463598.1",
"protein_id": "ENSP00000420497.1",
"transcript_support_level": 1,
"aa_start": 201,
"aa_end": null,
"aa_length": 317,
"cds_start": 602,
"cds_end": null,
"cds_length": 954,
"cdna_start": 621,
"cdna_end": null,
"cdna_length": 991,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFAF5",
"gene_hgnc_id": 15899,
"hgvs_c": "c.602T>C",
"hgvs_p": "p.Leu201Pro",
"transcript": "NM_001039375.3",
"protein_id": "NP_001034464.1",
"transcript_support_level": null,
"aa_start": 201,
"aa_end": null,
"aa_length": 317,
"cds_start": 602,
"cds_end": null,
"cds_length": 954,
"cdna_start": 643,
"cdna_end": null,
"cdna_length": 5365,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFAF5",
"gene_hgnc_id": 15899,
"hgvs_c": "c.686T>C",
"hgvs_p": "p.Leu229Pro",
"transcript": "NM_001352408.2",
"protein_id": "NP_001339337.1",
"transcript_support_level": null,
"aa_start": 229,
"aa_end": null,
"aa_length": 247,
"cds_start": 686,
"cds_end": null,
"cds_length": 744,
"cdna_start": 727,
"cdna_end": null,
"cdna_length": 1081,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFAF5",
"gene_hgnc_id": 15899,
"hgvs_c": "c.215T>C",
"hgvs_p": "p.Leu72Pro",
"transcript": "NM_001352403.2",
"protein_id": "NP_001339332.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 188,
"cds_start": 215,
"cds_end": null,
"cds_length": 567,
"cdna_start": 623,
"cdna_end": null,
"cdna_length": 5345,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFAF5",
"gene_hgnc_id": 15899,
"hgvs_c": "c.125T>C",
"hgvs_p": "p.Leu42Pro",
"transcript": "NM_001352406.2",
"protein_id": "NP_001339335.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 158,
"cds_start": 125,
"cds_end": null,
"cds_length": 477,
"cdna_start": 747,
"cdna_end": null,
"cdna_length": 5469,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFAF5",
"gene_hgnc_id": 15899,
"hgvs_c": "c.125T>C",
"hgvs_p": "p.Leu42Pro",
"transcript": "NM_001352407.2",
"protein_id": "NP_001339336.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 158,
"cds_start": 125,
"cds_end": null,
"cds_length": 477,
"cdna_start": 861,
"cdna_end": null,
"cdna_length": 5583,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFAF5",
"gene_hgnc_id": 15899,
"hgvs_c": "c.686T>C",
"hgvs_p": "p.Leu229Pro",
"transcript": "XM_047440469.1",
"protein_id": "XP_047296425.1",
"transcript_support_level": null,
"aa_start": 229,
"aa_end": null,
"aa_length": 317,
"cds_start": 686,
"cds_end": null,
"cds_length": 954,
"cdna_start": 727,
"cdna_end": null,
"cdna_length": 5365,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFAF5",
"gene_hgnc_id": 15899,
"hgvs_c": "c.686T>C",
"hgvs_p": "p.Leu229Pro",
"transcript": "XM_011529342.3",
"protein_id": "XP_011527644.1",
"transcript_support_level": null,
"aa_start": 229,
"aa_end": null,
"aa_length": 299,
"cds_start": 686,
"cds_end": null,
"cds_length": 900,
"cdna_start": 727,
"cdna_end": null,
"cdna_length": 1025,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFAF5",
"gene_hgnc_id": 15899,
"hgvs_c": "c.602T>C",
"hgvs_p": "p.Leu201Pro",
"transcript": "XM_047440470.1",
"protein_id": "XP_047296426.1",
"transcript_support_level": null,
"aa_start": 201,
"aa_end": null,
"aa_length": 219,
"cds_start": 602,
"cds_end": null,
"cds_length": 660,
"cdna_start": 643,
"cdna_end": null,
"cdna_length": 791,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFAF5",
"gene_hgnc_id": 15899,
"hgvs_c": "c.215T>C",
"hgvs_p": "p.Leu72Pro",
"transcript": "XM_006723624.3",
"protein_id": "XP_006723687.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 188,
"cds_start": 215,
"cds_end": null,
"cds_length": 567,
"cdna_start": 757,
"cdna_end": null,
"cdna_length": 5479,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFAF5",
"gene_hgnc_id": 15899,
"hgvs_c": "c.215T>C",
"hgvs_p": "p.Leu72Pro",
"transcript": "XM_047440471.1",
"protein_id": "XP_047296427.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 188,
"cds_start": 215,
"cds_end": null,
"cds_length": 567,
"cdna_start": 753,
"cdna_end": null,
"cdna_length": 5475,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFAF5",
"gene_hgnc_id": 15899,
"hgvs_c": "c.125T>C",
"hgvs_p": "p.Leu42Pro",
"transcript": "XM_047440472.1",
"protein_id": "XP_047296428.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 158,
"cds_start": 125,
"cds_end": null,
"cds_length": 477,
"cdna_start": 1446,
"cdna_end": null,
"cdna_length": 6168,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFAF5",
"gene_hgnc_id": 15899,
"hgvs_c": "c.125T>C",
"hgvs_p": "p.Leu42Pro",
"transcript": "XM_047440473.1",
"protein_id": "XP_047296429.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 158,
"cds_start": 125,
"cds_end": null,
"cds_length": 477,
"cdna_start": 497,
"cdna_end": null,
"cdna_length": 5219,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFAF5",
"gene_hgnc_id": 15899,
"hgvs_c": "n.686T>C",
"hgvs_p": null,
"transcript": "ENST00000378081.9",
"protein_id": "ENSP00000437325.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2409,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFAF5",
"gene_hgnc_id": 15899,
"hgvs_c": "n.359T>C",
"hgvs_p": null,
"transcript": "ENST00000464269.5",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 550,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFAF5",
"gene_hgnc_id": 15899,
"hgvs_c": "n.563T>C",
"hgvs_p": null,
"transcript": "ENST00000475968.5",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 933,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFAF5",
"gene_hgnc_id": 15899,
"hgvs_c": "n.85T>C",
"hgvs_p": null,
"transcript": "ENST00000476124.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 444,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFAF5",
"gene_hgnc_id": 15899,
"hgvs_c": "n.646T>C",
"hgvs_p": null,
"transcript": "ENST00000476536.5",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 763,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFAF5",
"gene_hgnc_id": 15899,
"hgvs_c": "n.207T>C",
"hgvs_p": null,
"transcript": "ENST00000479716.5",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 493,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFAF5",
"gene_hgnc_id": 15899,
"hgvs_c": "n.563T>C",
"hgvs_p": null,
"transcript": "ENST00000481249.5",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 676,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFAF5",
"gene_hgnc_id": 15899,
"hgvs_c": "n.663T>C",
"hgvs_p": null,
"transcript": "ENST00000485738.5",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
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"computational_prediction_selected": "Pathogenic",
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": 0.42,
"bayesdelnoaf_prediction": "Pathogenic",
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"phylop100way_prediction": "Uncertain_significance",
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"acmg_by_gene": [
{
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"verdict": "Pathogenic",
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"inheritance_mode": "AR",
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],
"clinvar_disease": " nuclear type 16,Mitochondrial complex I deficiency,not provided",
"clinvar_classification": "Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LP:4",
"phenotype_combined": "Mitochondrial complex I deficiency, nuclear type 16|not provided|Mitochondrial complex I deficiency",
"pathogenicity_classification_combined": "Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}