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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: 2-166199652-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=166199652&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 166199652,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001365536.1",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCN9A",
"gene_hgnc_id": 10597,
"hgvs_c": "c.4987A>T",
"hgvs_p": "p.Met1663Leu",
"transcript": "NM_001365536.1",
"protein_id": "NP_001352465.1",
"transcript_support_level": null,
"aa_start": 1663,
"aa_end": null,
"aa_length": 1988,
"cds_start": 4987,
"cds_end": null,
"cds_length": 5967,
"cdna_start": 5285,
"cdna_end": null,
"cdna_length": 9752,
"mane_select": "ENST00000642356.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCN9A",
"gene_hgnc_id": 10597,
"hgvs_c": "c.4987A>T",
"hgvs_p": "p.Met1663Leu",
"transcript": "ENST00000642356.2",
"protein_id": "ENSP00000495601.1",
"transcript_support_level": null,
"aa_start": 1663,
"aa_end": null,
"aa_length": 1988,
"cds_start": 4987,
"cds_end": null,
"cds_length": 5967,
"cdna_start": 5285,
"cdna_end": null,
"cdna_length": 9752,
"mane_select": "NM_001365536.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCN9A",
"gene_hgnc_id": 10597,
"hgvs_c": "c.4987A>T",
"hgvs_p": "p.Met1663Leu",
"transcript": "ENST00000303354.11",
"protein_id": "ENSP00000304748.7",
"transcript_support_level": 5,
"aa_start": 1663,
"aa_end": null,
"aa_length": 1988,
"cds_start": 4987,
"cds_end": null,
"cds_length": 5967,
"cdna_start": 5235,
"cdna_end": null,
"cdna_length": 9698,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCN9A",
"gene_hgnc_id": 10597,
"hgvs_c": "c.4954A>T",
"hgvs_p": "p.Met1652Leu",
"transcript": "ENST00000409672.5",
"protein_id": "ENSP00000386306.1",
"transcript_support_level": 5,
"aa_start": 1652,
"aa_end": null,
"aa_length": 1977,
"cds_start": 4954,
"cds_end": null,
"cds_length": 5934,
"cdna_start": 5301,
"cdna_end": null,
"cdna_length": 9768,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCN9A",
"gene_hgnc_id": 10597,
"hgvs_c": "c.4954A>T",
"hgvs_p": "p.Met1652Leu",
"transcript": "ENST00000645907.1",
"protein_id": "ENSP00000495983.1",
"transcript_support_level": null,
"aa_start": 1652,
"aa_end": null,
"aa_length": 1977,
"cds_start": 4954,
"cds_end": null,
"cds_length": 5934,
"cdna_start": 5202,
"cdna_end": null,
"cdna_length": 7392,
"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": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCN1A-AS1",
"gene_hgnc_id": 54069,
"hgvs_c": "n.445T>A",
"hgvs_p": null,
"transcript": "ENST00000447809.2",
"protein_id": null,
"transcript_support_level": 1,
"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": 2305,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCN9A",
"gene_hgnc_id": 10597,
"hgvs_c": "c.4954A>T",
"hgvs_p": "p.Met1652Leu",
"transcript": "NM_002977.4",
"protein_id": "NP_002968.2",
"transcript_support_level": null,
"aa_start": 1652,
"aa_end": null,
"aa_length": 1977,
"cds_start": 4954,
"cds_end": null,
"cds_length": 5934,
"cdna_start": 5252,
"cdna_end": null,
"cdna_length": 9719,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCN9A",
"gene_hgnc_id": 10597,
"hgvs_c": "c.4987A>T",
"hgvs_p": "p.Met1663Leu",
"transcript": "XM_011511616.4",
"protein_id": "XP_011509918.1",
"transcript_support_level": null,
"aa_start": 1663,
"aa_end": null,
"aa_length": 1988,
"cds_start": 4987,
"cds_end": null,
"cds_length": 5967,
"cdna_start": 5247,
"cdna_end": null,
"cdna_length": 9714,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCN9A",
"gene_hgnc_id": 10597,
"hgvs_c": "c.4987A>T",
"hgvs_p": "p.Met1663Leu",
"transcript": "XM_011511617.3",
"protein_id": "XP_011509919.1",
"transcript_support_level": null,
"aa_start": 1663,
"aa_end": null,
"aa_length": 1988,
"cds_start": 4987,
"cds_end": null,
"cds_length": 5967,
"cdna_start": 5328,
"cdna_end": null,
"cdna_length": 9795,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCN9A",
"gene_hgnc_id": 10597,
"hgvs_c": "c.4954A>T",
"hgvs_p": "p.Met1652Leu",
"transcript": "XM_011511618.3",
"protein_id": "XP_011509920.1",
"transcript_support_level": null,
"aa_start": 1652,
"aa_end": null,
"aa_length": 1977,
"cds_start": 4954,
"cds_end": null,
"cds_length": 5934,
"cdna_start": 5295,
"cdna_end": null,
"cdna_length": 9762,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCN9A",
"gene_hgnc_id": 10597,
"hgvs_c": "c.4243A>T",
"hgvs_p": "p.Met1415Leu",
"transcript": "XM_017004669.2",
"protein_id": "XP_016860158.1",
"transcript_support_level": null,
"aa_start": 1415,
"aa_end": null,
"aa_length": 1740,
"cds_start": 4243,
"cds_end": null,
"cds_length": 5223,
"cdna_start": 4388,
"cdna_end": null,
"cdna_length": 8855,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCN1A-AS1",
"gene_hgnc_id": 54069,
"hgvs_c": "n.142T>A",
"hgvs_p": null,
"transcript": "ENST00000630020.3",
"protein_id": null,
"transcript_support_level": 5,
"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,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCN9A",
"gene_hgnc_id": 10597,
"hgvs_c": "n.1364A>T",
"hgvs_p": null,
"transcript": "ENST00000646694.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"cdna_length": 2717,
"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCN1A-AS1",
"gene_hgnc_id": 54069,
"hgvs_c": "n.578T>A",
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"transcript": "ENST00000651013.1",
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},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
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"gene_symbol": "SCN1A-AS1",
"gene_hgnc_id": 54069,
"hgvs_c": "n.1123T>A",
"hgvs_p": null,
"transcript": "ENST00000651574.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
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"gene_symbol": "SCN1A-AS1",
"gene_hgnc_id": 54069,
"hgvs_c": "n.539T>A",
"hgvs_p": null,
"transcript": "ENST00000651782.1",
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},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
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"gene_symbol": "SCN1A-AS1",
"gene_hgnc_id": 54069,
"hgvs_c": "n.582T>A",
"hgvs_p": null,
"transcript": "ENST00000657189.1",
"protein_id": null,
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"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCN1A-AS1",
"gene_hgnc_id": 54069,
"hgvs_c": "n.520T>A",
"hgvs_p": null,
"transcript": "ENST00000660239.1",
"protein_id": null,
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"aa_start": null,
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"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCN1A-AS1",
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"hgvs_c": "n.298T>A",
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": 3,
"exon_rank_end": null,
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"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCN1A-AS1",
"gene_hgnc_id": 54069,
"hgvs_c": "n.539T>A",
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"transcript": "ENST00000668514.1",
"protein_id": null,
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},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
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"gene_symbol": "SCN1A-AS1",
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCN1A-AS1",
"gene_hgnc_id": 54069,
"hgvs_c": "n.347T>A",
"hgvs_p": null,
"transcript": "ENST00000670867.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
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"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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"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": "SCN1A-AS1",
"gene_hgnc_id": 54069,
"hgvs_c": "n.360T>A",
"hgvs_p": null,
"transcript": "ENST00000671220.1",
"protein_id": null,
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"aa_start": null,
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],
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"splice_prediction_selected": "Benign",
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"revel_prediction": "Pathogenic",
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"bayesdelnoaf_score": 0.51,
"bayesdelnoaf_prediction": "Pathogenic",
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"phylop100way_prediction": "Pathogenic",
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"spliceai_max_prediction": "Benign",
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"acmg_classification": "Uncertain_significance",
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"acmg_by_gene": [
{
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"PP3_Moderate"
],
"verdict": "Uncertain_significance",
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"effects": [
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"inheritance_mode": "AD,SD,AR",
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{
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"verdict": "Uncertain_significance",
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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
}