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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: 2-10603420-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=10603420&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 10603420,
"ref": "A",
"alt": "G",
"effect": "intron_variant",
"transcript": "ENST00000381685.10",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "NOL10",
"gene_hgnc_id": 25862,
"hgvs_c": "c.1154-263T>C",
"hgvs_p": null,
"transcript": "NM_024894.4",
"protein_id": "NP_079170.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 688,
"cds_start": -4,
"cds_end": null,
"cds_length": 2067,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3498,
"mane_select": "ENST00000381685.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "NOL10",
"gene_hgnc_id": 25862,
"hgvs_c": "c.1154-263T>C",
"hgvs_p": null,
"transcript": "ENST00000381685.10",
"protein_id": "ENSP00000371101.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 688,
"cds_start": -4,
"cds_end": null,
"cds_length": 2067,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3498,
"mane_select": "NM_024894.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "NOL10",
"gene_hgnc_id": 25862,
"hgvs_c": "c.1205-263T>C",
"hgvs_p": null,
"transcript": "ENST00000695468.1",
"protein_id": "ENSP00000511946.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 705,
"cds_start": -4,
"cds_end": null,
"cds_length": 2118,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5989,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "NOL10",
"gene_hgnc_id": 25862,
"hgvs_c": "c.1076-263T>C",
"hgvs_p": null,
"transcript": "NM_001261392.2",
"protein_id": "NP_001248321.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 662,
"cds_start": -4,
"cds_end": null,
"cds_length": 1989,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3420,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "NOL10",
"gene_hgnc_id": 25862,
"hgvs_c": "c.1076-263T>C",
"hgvs_p": null,
"transcript": "ENST00000538384.5",
"protein_id": "ENSP00000439663.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 662,
"cds_start": -4,
"cds_end": null,
"cds_length": 1989,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3418,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "NOL10",
"gene_hgnc_id": 25862,
"hgvs_c": "c.1034-263T>C",
"hgvs_p": null,
"transcript": "ENST00000695469.1",
"protein_id": "ENSP00000511947.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 648,
"cds_start": -4,
"cds_end": null,
"cds_length": 1947,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5818,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "NOL10",
"gene_hgnc_id": 25862,
"hgvs_c": "c.1004-263T>C",
"hgvs_p": null,
"transcript": "NM_001261394.2",
"protein_id": "NP_001248323.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 638,
"cds_start": -4,
"cds_end": null,
"cds_length": 1917,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3348,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "NOL10",
"gene_hgnc_id": 25862,
"hgvs_c": "c.1004-263T>C",
"hgvs_p": null,
"transcript": "ENST00000345985.7",
"protein_id": "ENSP00000263837.4",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 638,
"cds_start": -4,
"cds_end": null,
"cds_length": 1917,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3333,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "NOL10",
"gene_hgnc_id": 25862,
"hgvs_c": "c.884-263T>C",
"hgvs_p": null,
"transcript": "ENST00000695467.1",
"protein_id": "ENSP00000511945.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 598,
"cds_start": -4,
"cds_end": null,
"cds_length": 1797,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5668,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ENSG00000234818",
"gene_hgnc_id": null,
"hgvs_c": "n.424-1269A>G",
"hgvs_p": null,
"transcript": "ENST00000414538.1",
"protein_id": null,
"transcript_support_level": 4,
"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": 565,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "NOL10",
"gene_hgnc_id": 25862,
"hgvs_c": "n.1154-263T>C",
"hgvs_p": null,
"transcript": "ENST00000695464.1",
"protein_id": "ENSP00000511944.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 1,
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"gene_symbol": "NOL10",
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"hgvs_c": "n.2205-263T>C",
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"transcript": "ENST00000695465.1",
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},
{
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"canonical": false,
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 11,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "NOL10",
"gene_hgnc_id": 25862,
"hgvs_c": "n.1016-263T>C",
"hgvs_p": null,
"transcript": "ENST00000695466.1",
"protein_id": null,
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"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
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],
"exon_rank": null,
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"exon_count": 20,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "NOL10",
"gene_hgnc_id": 25862,
"hgvs_c": "n.*648-263T>C",
"hgvs_p": null,
"transcript": "ENST00000695470.1",
"protein_id": "ENSP00000511948.1",
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},
{
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"strand": false,
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],
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"intron_rank": 13,
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"gene_symbol": "NOL10",
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"hgvs_c": "n.3097-263T>C",
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"transcript": "ENST00000695471.1",
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 18,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "NOL10",
"gene_hgnc_id": 25862,
"hgvs_c": "n.*42-263T>C",
"hgvs_p": null,
"transcript": "ENST00000695472.1",
"protein_id": "ENSP00000511949.1",
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},
{
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],
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"gene_symbol": "NOL10",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 9,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "NOL10",
"gene_hgnc_id": 25862,
"hgvs_c": "n.1307-263T>C",
"hgvs_p": null,
"transcript": "ENST00000695474.1",
"protein_id": null,
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},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
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],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "NOL10",
"gene_hgnc_id": 25862,
"hgvs_c": "n.*1144-263T>C",
"hgvs_p": null,
"transcript": "ENST00000695475.1",
"protein_id": "ENSP00000511950.1",
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},
{
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"consequences": [
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],
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},
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"strand": false,
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],
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"gene_symbol": "NOL10",
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"hgvs_c": "n.1004-263T>C",
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"transcript": "ENST00000695477.1",
"protein_id": "ENSP00000511952.1",
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},
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"strand": false,
"consequences": [
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],
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"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "NOL10",
"gene_hgnc_id": 25862,
"hgvs_c": "n.1222-263T>C",
"hgvs_p": null,
"transcript": "NR_048552.2",
"protein_id": null,
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"aa_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "NOL10",
"gene_hgnc_id": 25862,
"hgvs_c": "c.704-263T>C",
"hgvs_p": null,
"transcript": "XM_047445893.1",
"protein_id": "XP_047301849.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 538,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
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{
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],
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"gnomad_genomes_ac": 89926,
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"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": -0.86,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.034,
"phylop100way_prediction": "Benign",
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"spliceai_max_prediction": "Benign",
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"acmg_score": -12,
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"acmg_by_gene": [
{
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"BA1"
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"verdict": "Benign",
"transcript": "ENST00000381685.10",
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"effects": [
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"inheritance_mode": "AR",
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{
"score": -12,
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"BA1"
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"verdict": "Benign",
"transcript": "ENST00000414538.1",
"gene_symbol": "ENSG00000234818",
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"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.424-1269A>G",
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}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}