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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: 11-132307788-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=132307788&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 132307788,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001352001.2",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NTM",
"gene_hgnc_id": 17941,
"hgvs_c": "c.626C>T",
"hgvs_p": "p.Ala209Val",
"transcript": "NM_001352005.2",
"protein_id": "NP_001338934.1",
"transcript_support_level": null,
"aa_start": 209,
"aa_end": null,
"aa_length": 355,
"cds_start": 626,
"cds_end": null,
"cds_length": 1068,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000683400.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352005.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NTM",
"gene_hgnc_id": 17941,
"hgvs_c": "c.626C>T",
"hgvs_p": "p.Ala209Val",
"transcript": "ENST00000683400.1",
"protein_id": "ENSP00000507313.1",
"transcript_support_level": null,
"aa_start": 209,
"aa_end": null,
"aa_length": 355,
"cds_start": 626,
"cds_end": null,
"cds_length": 1068,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001352005.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000683400.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NTM",
"gene_hgnc_id": 17941,
"hgvs_c": "c.626C>T",
"hgvs_p": "p.Ala209Val",
"transcript": "ENST00000425719.6",
"protein_id": "ENSP00000396722.2",
"transcript_support_level": 1,
"aa_start": 209,
"aa_end": null,
"aa_length": 355,
"cds_start": 626,
"cds_end": null,
"cds_length": 1068,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000425719.6"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NTM",
"gene_hgnc_id": 17941,
"hgvs_c": "c.626C>T",
"hgvs_p": "p.Ala209Val",
"transcript": "ENST00000374786.5",
"protein_id": "ENSP00000363918.1",
"transcript_support_level": 1,
"aa_start": 209,
"aa_end": null,
"aa_length": 344,
"cds_start": 626,
"cds_end": null,
"cds_length": 1035,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000374786.5"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NTM",
"gene_hgnc_id": 17941,
"hgvs_c": "c.626C>T",
"hgvs_p": "p.Ala209Val",
"transcript": "ENST00000374791.7",
"protein_id": "ENSP00000363923.3",
"transcript_support_level": 1,
"aa_start": 209,
"aa_end": null,
"aa_length": 344,
"cds_start": 626,
"cds_end": null,
"cds_length": 1035,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000374791.7"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NTM",
"gene_hgnc_id": 17941,
"hgvs_c": "c.626C>T",
"hgvs_p": "p.Ala209Val",
"transcript": "ENST00000374784.5",
"protein_id": "ENSP00000363916.1",
"transcript_support_level": 1,
"aa_start": 209,
"aa_end": null,
"aa_length": 316,
"cds_start": 626,
"cds_end": null,
"cds_length": 951,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000374784.5"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NTM",
"gene_hgnc_id": 17941,
"hgvs_c": "c.626C>T",
"hgvs_p": "p.Ala209Val",
"transcript": "NM_001352001.2",
"protein_id": "NP_001338930.1",
"transcript_support_level": null,
"aa_start": 209,
"aa_end": null,
"aa_length": 367,
"cds_start": 626,
"cds_end": null,
"cds_length": 1104,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352001.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NTM",
"gene_hgnc_id": 17941,
"hgvs_c": "c.626C>T",
"hgvs_p": "p.Ala209Val",
"transcript": "NM_001352002.2",
"protein_id": "NP_001338931.1",
"transcript_support_level": null,
"aa_start": 209,
"aa_end": null,
"aa_length": 367,
"cds_start": 626,
"cds_end": null,
"cds_length": 1104,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352002.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NTM",
"gene_hgnc_id": 17941,
"hgvs_c": "c.626C>T",
"hgvs_p": "p.Ala209Val",
"transcript": "NM_001352003.2",
"protein_id": "NP_001338932.1",
"transcript_support_level": null,
"aa_start": 209,
"aa_end": null,
"aa_length": 356,
"cds_start": 626,
"cds_end": null,
"cds_length": 1071,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352003.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NTM",
"gene_hgnc_id": 17941,
"hgvs_c": "c.626C>T",
"hgvs_p": "p.Ala209Val",
"transcript": "NM_001352004.2",
"protein_id": "NP_001338933.1",
"transcript_support_level": null,
"aa_start": 209,
"aa_end": null,
"aa_length": 356,
"cds_start": 626,
"cds_end": null,
"cds_length": 1071,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352004.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NTM",
"gene_hgnc_id": 17941,
"hgvs_c": "c.626C>T",
"hgvs_p": "p.Ala209Val",
"transcript": "NM_001144058.2",
"protein_id": "NP_001137530.1",
"transcript_support_level": null,
"aa_start": 209,
"aa_end": null,
"aa_length": 355,
"cds_start": 626,
"cds_end": null,
"cds_length": 1068,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001144058.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"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": "NTM",
"gene_hgnc_id": 17941,
"hgvs_c": "c.599C>T",
"hgvs_p": "p.Ala200Val",
"transcript": "NM_001352006.2",
"protein_id": "NP_001338935.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 346,
"cds_start": 599,
"cds_end": null,
"cds_length": 1041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352006.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NTM",
"gene_hgnc_id": 17941,
"hgvs_c": "c.626C>T",
"hgvs_p": "p.Ala209Val",
"transcript": "NM_001048209.2",
"protein_id": "NP_001041674.1",
"transcript_support_level": null,
"aa_start": 209,
"aa_end": null,
"aa_length": 344,
"cds_start": 626,
"cds_end": null,
"cds_length": 1035,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001048209.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NTM",
"gene_hgnc_id": 17941,
"hgvs_c": "c.626C>T",
"hgvs_p": "p.Ala209Val",
"transcript": "NM_016522.3",
"protein_id": "NP_057606.1",
"transcript_support_level": null,
"aa_start": 209,
"aa_end": null,
"aa_length": 344,
"cds_start": 626,
"cds_end": null,
"cds_length": 1035,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016522.3"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NTM",
"gene_hgnc_id": 17941,
"hgvs_c": "c.611C>T",
"hgvs_p": "p.Ala204Val",
"transcript": "NM_001386967.1",
"protein_id": "NP_001373896.1",
"transcript_support_level": null,
"aa_start": 204,
"aa_end": null,
"aa_length": 339,
"cds_start": 611,
"cds_end": null,
"cds_length": 1020,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001386967.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NTM",
"gene_hgnc_id": 17941,
"hgvs_c": "c.599C>T",
"hgvs_p": "p.Ala200Val",
"transcript": "NM_001352007.2",
"protein_id": "NP_001338936.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 335,
"cds_start": 599,
"cds_end": null,
"cds_length": 1008,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352007.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NTM",
"gene_hgnc_id": 17941,
"hgvs_c": "c.584C>T",
"hgvs_p": "p.Ala195Val",
"transcript": "NM_001386964.1",
"protein_id": "NP_001373893.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 330,
"cds_start": 584,
"cds_end": null,
"cds_length": 993,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001386964.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NTM",
"gene_hgnc_id": 17941,
"hgvs_c": "c.503C>T",
"hgvs_p": "p.Ala168Val",
"transcript": "NM_001386968.1",
"protein_id": "NP_001373897.1",
"transcript_support_level": null,
"aa_start": 168,
"aa_end": null,
"aa_length": 326,
"cds_start": 503,
"cds_end": null,
"cds_length": 981,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001386968.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NTM",
"gene_hgnc_id": 17941,
"hgvs_c": "c.569C>T",
"hgvs_p": "p.Ala190Val",
"transcript": "NM_001352008.2",
"protein_id": "NP_001338937.1",
"transcript_support_level": null,
"aa_start": 190,
"aa_end": null,
"aa_length": 325,
"cds_start": 569,
"cds_end": null,
"cds_length": 978,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352008.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NTM",
"gene_hgnc_id": 17941,
"hgvs_c": "c.626C>T",
"hgvs_p": "p.Ala209Val",
"transcript": "NM_001144059.3",
"protein_id": "NP_001137531.1",
"transcript_support_level": null,
"aa_start": 209,
"aa_end": null,
"aa_length": 316,
"cds_start": 626,
"cds_end": null,
"cds_length": 951,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001144059.3"
},
{
"aa_ref": "A",
"aa_alt": "V",
"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": "NTM",
"gene_hgnc_id": 17941,
"hgvs_c": "c.521C>T",
"hgvs_p": "p.Ala174Val",
"transcript": "NM_001386965.1",
"protein_id": "NP_001373894.1",
"transcript_support_level": null,
"aa_start": 174,
"aa_end": null,
"aa_length": 309,
"cds_start": 521,
"cds_end": null,
"cds_length": 930,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001386965.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NTM",
"gene_hgnc_id": 17941,
"hgvs_c": "c.503C>T",
"hgvs_p": "p.Ala168Val",
"transcript": "NM_001352009.2",
"protein_id": "NP_001338938.1",
"transcript_support_level": null,
"aa_start": 168,
"aa_end": null,
"aa_length": 303,
"cds_start": 503,
"cds_end": null,
"cds_length": 912,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352009.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
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],
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"hom_count_reference_population": 0,
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"computational_score_selected": 0.15050017833709717,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.193,
"revel_prediction": "Benign",
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"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.29,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.693,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_by_gene": [
{
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"pathogenic_score": 0,
"criteria": [
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"verdict": "Likely_benign",
"transcript": "NM_001352001.2",
"gene_symbol": "NTM",
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"effects": [
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],
"inheritance_mode": "",
"hgvs_c": "c.626C>T",
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],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}