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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: 2-166280508-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=166280508&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "SCN9A",
"hgnc_id": 10597,
"hgvs_c": "c.2192T>A",
"hgvs_p": "p.Ile731Lys",
"inheritance_mode": "AD,AR,SD",
"pathogenic_score": 0,
"score": -2,
"transcript": "NM_001365536.1",
"verdict": "Likely_benign"
},
{
"benign_score": 6,
"criteria": [
"BP4_Moderate",
"BS1"
],
"effects": [
"intron_variant"
],
"gene_symbol": "SCN1A-AS1",
"hgnc_id": 54069,
"hgvs_c": "n.1029+3261A>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -6,
"transcript": "ENST00000447809.2",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_score": -2,
"allele_count_reference_population": 408,
"alphamissense_prediction": null,
"alphamissense_score": 0.1624,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.28,
"chr": "2",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_disease": " autosomal recessive, hereditary sensory and autonomic, type 2A, type 7,Channelopathy-associated congenital insensitivity to pain,Generalized epilepsy with febrile seizures plus,Inborn genetic diseases,Neuropathy,Paroxysmal extreme pain disorder,Primary erythromelalgia,Small fiber neuropathy,not provided,not specified",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "P:2 US:8 LB:6",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.20788541436195374,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1988,
"aa_ref": "I",
"aa_start": 731,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9752,
"cdna_start": 2490,
"cds_end": null,
"cds_length": 5967,
"cds_start": 2192,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_001365536.1",
"gene_hgnc_id": 10597,
"gene_symbol": "SCN9A",
"hgvs_c": "c.2192T>A",
"hgvs_p": "p.Ile731Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000642356.2",
"protein_coding": true,
"protein_id": "NP_001352465.1",
"strand": false,
"transcript": "NM_001365536.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1988,
"aa_ref": "I",
"aa_start": 731,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 9752,
"cdna_start": 2490,
"cds_end": null,
"cds_length": 5967,
"cds_start": 2192,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000642356.2",
"gene_hgnc_id": 10597,
"gene_symbol": "SCN9A",
"hgvs_c": "c.2192T>A",
"hgvs_p": "p.Ile731Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001365536.1",
"protein_coding": true,
"protein_id": "ENSP00000495601.1",
"strand": false,
"transcript": "ENST00000642356.2",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1988,
"aa_ref": "I",
"aa_start": 731,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 9698,
"cdna_start": 2440,
"cds_end": null,
"cds_length": 5967,
"cds_start": 2192,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000303354.11",
"gene_hgnc_id": 10597,
"gene_symbol": "SCN9A",
"hgvs_c": "c.2192T>A",
"hgvs_p": "p.Ile731Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000304748.7",
"strand": false,
"transcript": "ENST00000303354.11",
"transcript_support_level": 5
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1977,
"aa_ref": "I",
"aa_start": 720,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 9768,
"cdna_start": 2506,
"cds_end": null,
"cds_length": 5934,
"cds_start": 2159,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000409672.5",
"gene_hgnc_id": 10597,
"gene_symbol": "SCN9A",
"hgvs_c": "c.2159T>A",
"hgvs_p": "p.Ile720Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000386306.1",
"strand": false,
"transcript": "ENST00000409672.5",
"transcript_support_level": 5
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1977,
"aa_ref": "I",
"aa_start": 720,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 7392,
"cdna_start": 2407,
"cds_end": null,
"cds_length": 5934,
"cds_start": 2159,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000645907.1",
"gene_hgnc_id": 10597,
"gene_symbol": "SCN9A",
"hgvs_c": "c.2159T>A",
"hgvs_p": "p.Ile720Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000495983.1",
"strand": false,
"transcript": "ENST00000645907.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 832,
"aa_ref": "I",
"aa_start": 720,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3231,
"cdna_start": 2482,
"cds_end": null,
"cds_length": 2499,
"cds_start": 2159,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000454569.6",
"gene_hgnc_id": 10597,
"gene_symbol": "SCN9A",
"hgvs_c": "c.2159T>A",
"hgvs_p": "p.Ile720Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000413212.2",
"strand": false,
"transcript": "ENST00000454569.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 2305,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000447809.2",
"gene_hgnc_id": 54069,
"gene_symbol": "SCN1A-AS1",
"hgvs_c": "n.1029+3261A>T",
"hgvs_p": null,
"intron_rank": 8,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000447809.2",
"transcript_support_level": 1
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1977,
"aa_ref": "I",
"aa_start": 720,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9719,
"cdna_start": 2457,
"cds_end": null,
"cds_length": 5934,
"cds_start": 2159,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_002977.4",
"gene_hgnc_id": 10597,
"gene_symbol": "SCN9A",
"hgvs_c": "c.2159T>A",
"hgvs_p": "p.Ile720Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_002968.2",
"strand": false,
"transcript": "NM_002977.4",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1988,
"aa_ref": "I",
"aa_start": 731,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9714,
"cdna_start": 2452,
"cds_end": null,
"cds_length": 5967,
"cds_start": 2192,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "XM_011511616.4",
"gene_hgnc_id": 10597,
"gene_symbol": "SCN9A",
"hgvs_c": "c.2192T>A",
"hgvs_p": "p.Ile731Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011509918.1",
"strand": false,
"transcript": "XM_011511616.4",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1988,
"aa_ref": "I",
"aa_start": 731,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9795,
"cdna_start": 2533,
"cds_end": null,
"cds_length": 5967,
"cds_start": 2192,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "XM_011511617.3",
"gene_hgnc_id": 10597,
"gene_symbol": "SCN9A",
"hgvs_c": "c.2192T>A",
"hgvs_p": "p.Ile731Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011509919.1",
"strand": false,
"transcript": "XM_011511617.3",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1977,
"aa_ref": "I",
"aa_start": 720,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9762,
"cdna_start": 2500,
"cds_end": null,
"cds_length": 5934,
"cds_start": 2159,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "XM_011511618.3",
"gene_hgnc_id": 10597,
"gene_symbol": "SCN9A",
"hgvs_c": "c.2159T>A",
"hgvs_p": "p.Ile720Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011509920.1",
"strand": false,
"transcript": "XM_011511618.3",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1740,
"aa_ref": "I",
"aa_start": 483,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8855,
"cdna_start": 1593,
"cds_end": null,
"cds_length": 5223,
"cds_start": 1448,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "XM_017004669.2",
"gene_hgnc_id": 10597,
"gene_symbol": "SCN9A",
"hgvs_c": "c.1448T>A",
"hgvs_p": "p.Ile483Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016860158.1",
"strand": false,
"transcript": "XM_017004669.2",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1504,
"aa_ref": "I",
"aa_start": 731,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9524,
"cdna_start": 2533,
"cds_end": null,
"cds_length": 4515,
"cds_start": 2192,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "XM_011511619.3",
"gene_hgnc_id": 10597,
"gene_symbol": "SCN9A",
"hgvs_c": "c.2192T>A",
"hgvs_p": "p.Ile731Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011509921.1",
"strand": false,
"transcript": "XM_011511619.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2255,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 13,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000667201.2",
"gene_hgnc_id": 10597,
"gene_symbol": "SCN9A",
"hgvs_c": "n.1193T>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000499341.2",
"strand": false,
"transcript": "ENST00000667201.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 3439,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 18,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "XR_001738886.2",
"gene_hgnc_id": 10597,
"gene_symbol": "SCN9A",
"hgvs_c": "n.2533T>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "XR_001738886.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1188,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000630020.3",
"gene_hgnc_id": 54069,
"gene_symbol": "SCN1A-AS1",
"hgvs_c": "n.671+3261A>T",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000630020.3",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 3179,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000651013.1",
"gene_hgnc_id": 54069,
"gene_symbol": "SCN1A-AS1",
"hgvs_c": "n.1107+3261A>T",
"hgvs_p": null,
"intron_rank": 7,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000651013.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 2258,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000651574.1",
"gene_hgnc_id": 54069,
"gene_symbol": "SCN1A-AS1",
"hgvs_c": "n.1707+3261A>T",
"hgvs_p": null,
"intron_rank": 15,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000651574.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 4099,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000651782.1",
"gene_hgnc_id": 54069,
"gene_symbol": "SCN1A-AS1",
"hgvs_c": "n.964-14057A>T",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000651782.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 2835,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000657189.1",
"gene_hgnc_id": 54069,
"gene_symbol": "SCN1A-AS1",
"hgvs_c": "n.1047-14057A>T",
"hgvs_p": null,
"intron_rank": 7,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000657189.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
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