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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: 15-41504154-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=41504154&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 6,
"criteria": [
"BP4_Moderate",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "LTK",
"hgnc_id": 6721,
"hgvs_c": "c.2437G>C",
"hgvs_p": "p.Glu813Gln",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -6,
"transcript": "NM_002344.6",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_score": -6,
"allele_count_reference_population": 16,
"alphamissense_prediction": null,
"alphamissense_score": 0.0813,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.52,
"chr": "15",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.07800477743148804,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 864,
"aa_ref": "E",
"aa_start": 813,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3072,
"cdna_start": 2555,
"cds_end": null,
"cds_length": 2595,
"cds_start": 2437,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "NM_002344.6",
"gene_hgnc_id": 6721,
"gene_symbol": "LTK",
"hgvs_c": "c.2437G>C",
"hgvs_p": "p.Glu813Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000263800.11",
"protein_coding": true,
"protein_id": "NP_002335.2",
"strand": false,
"transcript": "NM_002344.6",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 864,
"aa_ref": "E",
"aa_start": 813,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3072,
"cdna_start": 2555,
"cds_end": null,
"cds_length": 2595,
"cds_start": 2437,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000263800.11",
"gene_hgnc_id": 6721,
"gene_symbol": "LTK",
"hgvs_c": "c.2437G>C",
"hgvs_p": "p.Glu813Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_002344.6",
"protein_coding": true,
"protein_id": "ENSP00000263800.6",
"strand": false,
"transcript": "ENST00000263800.11",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 803,
"aa_ref": "E",
"aa_start": 752,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2940,
"cdna_start": 2424,
"cds_end": null,
"cds_length": 2412,
"cds_start": 2254,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000355166.9",
"gene_hgnc_id": 6721,
"gene_symbol": "LTK",
"hgvs_c": "c.2254G>C",
"hgvs_p": "p.Glu752Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000347293.5",
"strand": false,
"transcript": "ENST00000355166.9",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 562,
"aa_ref": "E",
"aa_start": 511,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1821,
"cdna_start": 1618,
"cds_end": null,
"cds_length": 1689,
"cds_start": 1531,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000561619.5",
"gene_hgnc_id": 6721,
"gene_symbol": "LTK",
"hgvs_c": "c.1531G>C",
"hgvs_p": "p.Glu511Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000458111.1",
"strand": false,
"transcript": "ENST00000561619.5",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 880,
"aa_ref": "E",
"aa_start": 829,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3160,
"cdna_start": 2643,
"cds_end": null,
"cds_length": 2643,
"cds_start": 2485,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000953759.1",
"gene_hgnc_id": 6721,
"gene_symbol": "LTK",
"hgvs_c": "c.2485G>C",
"hgvs_p": "p.Glu829Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000623818.1",
"strand": false,
"transcript": "ENST00000953759.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 860,
"aa_ref": "E",
"aa_start": 809,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3061,
"cdna_start": 2541,
"cds_end": null,
"cds_length": 2583,
"cds_start": 2425,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000953763.1",
"gene_hgnc_id": 6721,
"gene_symbol": "LTK",
"hgvs_c": "c.2425G>C",
"hgvs_p": "p.Glu809Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000623822.1",
"strand": false,
"transcript": "ENST00000953763.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 832,
"aa_ref": "E",
"aa_start": 781,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3002,
"cdna_start": 2486,
"cds_end": null,
"cds_length": 2499,
"cds_start": 2341,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000953760.1",
"gene_hgnc_id": 6721,
"gene_symbol": "LTK",
"hgvs_c": "c.2341G>C",
"hgvs_p": "p.Glu781Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000623819.1",
"strand": false,
"transcript": "ENST00000953760.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 819,
"aa_ref": "E",
"aa_start": 768,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2937,
"cdna_start": 2420,
"cds_end": null,
"cds_length": 2460,
"cds_start": 2302,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000897467.1",
"gene_hgnc_id": 6721,
"gene_symbol": "LTK",
"hgvs_c": "c.2302G>C",
"hgvs_p": "p.Glu768Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567526.1",
"strand": false,
"transcript": "ENST00000897467.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 803,
"aa_ref": "E",
"aa_start": 752,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2889,
"cdna_start": 2372,
"cds_end": null,
"cds_length": 2412,
"cds_start": 2254,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "NM_206961.4",
"gene_hgnc_id": 6721,
"gene_symbol": "LTK",
"hgvs_c": "c.2254G>C",
"hgvs_p": "p.Glu752Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_996844.1",
"strand": false,
"transcript": "NM_206961.4",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 795,
"aa_ref": "E",
"aa_start": 744,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2890,
"cdna_start": 2373,
"cds_end": null,
"cds_length": 2388,
"cds_start": 2230,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000953761.1",
"gene_hgnc_id": 6721,
"gene_symbol": "LTK",
"hgvs_c": "c.2230G>C",
"hgvs_p": "p.Glu744Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000623820.1",
"strand": false,
"transcript": "ENST00000953761.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 769,
"aa_ref": "E",
"aa_start": 718,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2788,
"cdna_start": 2272,
"cds_end": null,
"cds_length": 2310,
"cds_start": 2152,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000953764.1",
"gene_hgnc_id": 6721,
"gene_symbol": "LTK",
"hgvs_c": "c.2152G>C",
"hgvs_p": "p.Glu718Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000623823.1",
"strand": false,
"transcript": "ENST00000953764.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 763,
"aa_ref": "E",
"aa_start": 712,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2788,
"cdna_start": 2277,
"cds_end": null,
"cds_length": 2292,
"cds_start": 2134,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000953762.1",
"gene_hgnc_id": 6721,
"gene_symbol": "LTK",
"hgvs_c": "c.2134G>C",
"hgvs_p": "p.Glu712Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000623821.1",
"strand": false,
"transcript": "ENST00000953762.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 734,
"aa_ref": "E",
"aa_start": 683,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2682,
"cdna_start": 2165,
"cds_end": null,
"cds_length": 2205,
"cds_start": 2047,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "NM_001135685.2",
"gene_hgnc_id": 6721,
"gene_symbol": "LTK",
"hgvs_c": "c.2047G>C",
"hgvs_p": "p.Glu683Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001129157.1",
"strand": false,
"transcript": "NM_001135685.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 734,
"aa_ref": "E",
"aa_start": 683,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2412,
"cdna_start": 2225,
"cds_end": null,
"cds_length": 2205,
"cds_start": 2047,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000453182.2",
"gene_hgnc_id": 6721,
"gene_symbol": "LTK",
"hgvs_c": "c.2047G>C",
"hgvs_p": "p.Glu683Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000392196.2",
"strand": false,
"transcript": "ENST00000453182.2",
"transcript_support_level": 2
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 702,
"aa_ref": "E",
"aa_start": 651,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2619,
"cdna_start": 2102,
"cds_end": null,
"cds_length": 2109,
"cds_start": 1951,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000897466.1",
"gene_hgnc_id": 6721,
"gene_symbol": "LTK",
"hgvs_c": "c.1951G>C",
"hgvs_p": "p.Glu651Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567525.1",
"strand": false,
"transcript": "ENST00000897466.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 567,
"aa_ref": "E",
"aa_start": 516,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2177,
"cdna_start": 1663,
"cds_end": null,
"cds_length": 1704,
"cds_start": 1546,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000953765.1",
"gene_hgnc_id": 6721,
"gene_symbol": "LTK",
"hgvs_c": "c.1546G>C",
"hgvs_p": "p.Glu516Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000623824.1",
"strand": false,
"transcript": "ENST00000953765.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 546,
"aa_ref": "E",
"aa_start": 495,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2010,
"cdna_start": 1496,
"cds_end": null,
"cds_length": 1641,
"cds_start": 1483,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000897468.1",
"gene_hgnc_id": 6721,
"gene_symbol": "LTK",
"hgvs_c": "c.1483G>C",
"hgvs_p": "p.Glu495Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567527.1",
"strand": false,
"transcript": "ENST00000897468.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 824,
"aa_ref": "E",
"aa_start": 773,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2952,
"cdna_start": 2435,
"cds_end": null,
"cds_length": 2475,
"cds_start": 2317,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "XM_011521557.3",
"gene_hgnc_id": 6721,
"gene_symbol": "LTK",
"hgvs_c": "c.2317G>C",
"hgvs_p": "p.Glu773Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011519859.1",
"strand": false,
"transcript": "XM_011521557.3",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 819,
"aa_ref": "E",
"aa_start": 768,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2937,
"cdna_start": 2420,
"cds_end": null,
"cds_length": 2460,
"cds_start": 2302,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "XM_047432499.1",
"gene_hgnc_id": 6721,
"gene_symbol": "LTK",
"hgvs_c": "c.2302G>C",
"hgvs_p": "p.Glu768Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047288455.1",
"strand": false,
"transcript": "XM_047432499.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 808,
"aa_ref": "E",
"aa_start": 757,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2904,
"cdna_start": 2387,
"cds_end": null,
"cds_length": 2427,
"cds_start": 2269,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "XM_047432500.1",
"gene_hgnc_id": 6721,
"gene_symbol": "LTK",
"hgvs_c": "c.2269G>C",
"hgvs_p": "p.Glu757Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047288456.1",
"strand": false,
"transcript": "XM_047432500.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 776,
"aa_ref": "E",
"aa_start": 725,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2808,
"cdna_start": 2291,
"cds_end": null,
"cds_length": 2331,
"cds_start": 2173,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "XM_047432501.1",
"gene_hgnc_id": 6721,
"gene_symbol": "LTK",
"hgvs_c": "c.2173G>C",
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