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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: 15-41505944-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=41505944&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 41505944,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000263800.11",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTK",
"gene_hgnc_id": 6721,
"hgvs_c": "c.1603G>A",
"hgvs_p": "p.Asp535Asn",
"transcript": "NM_002344.6",
"protein_id": "NP_002335.2",
"transcript_support_level": null,
"aa_start": 535,
"aa_end": null,
"aa_length": 864,
"cds_start": 1603,
"cds_end": null,
"cds_length": 2595,
"cdna_start": 1721,
"cdna_end": null,
"cdna_length": 3072,
"mane_select": "ENST00000263800.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTK",
"gene_hgnc_id": 6721,
"hgvs_c": "c.1603G>A",
"hgvs_p": "p.Asp535Asn",
"transcript": "ENST00000263800.11",
"protein_id": "ENSP00000263800.6",
"transcript_support_level": 1,
"aa_start": 535,
"aa_end": null,
"aa_length": 864,
"cds_start": 1603,
"cds_end": null,
"cds_length": 2595,
"cdna_start": 1721,
"cdna_end": null,
"cdna_length": 3072,
"mane_select": "NM_002344.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTK",
"gene_hgnc_id": 6721,
"hgvs_c": "c.1420G>A",
"hgvs_p": "p.Asp474Asn",
"transcript": "ENST00000355166.9",
"protein_id": "ENSP00000347293.5",
"transcript_support_level": 1,
"aa_start": 474,
"aa_end": null,
"aa_length": 803,
"cds_start": 1420,
"cds_end": null,
"cds_length": 2412,
"cdna_start": 1590,
"cdna_end": null,
"cdna_length": 2940,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTK",
"gene_hgnc_id": 6721,
"hgvs_c": "c.697G>A",
"hgvs_p": "p.Asp233Asn",
"transcript": "ENST00000561619.5",
"protein_id": "ENSP00000458111.1",
"transcript_support_level": 1,
"aa_start": 233,
"aa_end": null,
"aa_length": 562,
"cds_start": 697,
"cds_end": null,
"cds_length": 1689,
"cdna_start": 784,
"cdna_end": null,
"cdna_length": 1821,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTK",
"gene_hgnc_id": 6721,
"hgvs_c": "c.1420G>A",
"hgvs_p": "p.Asp474Asn",
"transcript": "NM_206961.4",
"protein_id": "NP_996844.1",
"transcript_support_level": null,
"aa_start": 474,
"aa_end": null,
"aa_length": 803,
"cds_start": 1420,
"cds_end": null,
"cds_length": 2412,
"cdna_start": 1538,
"cdna_end": null,
"cdna_length": 2889,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTK",
"gene_hgnc_id": 6721,
"hgvs_c": "c.1483G>A",
"hgvs_p": "p.Asp495Asn",
"transcript": "XM_011521557.3",
"protein_id": "XP_011519859.1",
"transcript_support_level": null,
"aa_start": 495,
"aa_end": null,
"aa_length": 824,
"cds_start": 1483,
"cds_end": null,
"cds_length": 2475,
"cdna_start": 1601,
"cdna_end": null,
"cdna_length": 2952,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTK",
"gene_hgnc_id": 6721,
"hgvs_c": "c.1468G>A",
"hgvs_p": "p.Asp490Asn",
"transcript": "XM_047432499.1",
"protein_id": "XP_047288455.1",
"transcript_support_level": null,
"aa_start": 490,
"aa_end": null,
"aa_length": 819,
"cds_start": 1468,
"cds_end": null,
"cds_length": 2460,
"cdna_start": 1586,
"cdna_end": null,
"cdna_length": 2937,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTK",
"gene_hgnc_id": 6721,
"hgvs_c": "c.1435G>A",
"hgvs_p": "p.Asp479Asn",
"transcript": "XM_047432500.1",
"protein_id": "XP_047288456.1",
"transcript_support_level": null,
"aa_start": 479,
"aa_end": null,
"aa_length": 808,
"cds_start": 1435,
"cds_end": null,
"cds_length": 2427,
"cdna_start": 1553,
"cdna_end": null,
"cdna_length": 2904,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTK",
"gene_hgnc_id": 6721,
"hgvs_c": "c.1339G>A",
"hgvs_p": "p.Asp447Asn",
"transcript": "XM_047432501.1",
"protein_id": "XP_047288457.1",
"transcript_support_level": null,
"aa_start": 447,
"aa_end": null,
"aa_length": 776,
"cds_start": 1339,
"cds_end": null,
"cds_length": 2331,
"cdna_start": 1457,
"cdna_end": null,
"cdna_length": 2808,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTK",
"gene_hgnc_id": 6721,
"hgvs_c": "c.436G>A",
"hgvs_p": "p.Asp146Asn",
"transcript": "XM_024449919.2",
"protein_id": "XP_024305687.2",
"transcript_support_level": null,
"aa_start": 146,
"aa_end": null,
"aa_length": 475,
"cds_start": 436,
"cds_end": null,
"cds_length": 1428,
"cdna_start": 914,
"cdna_end": null,
"cdna_length": 2265,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTK",
"gene_hgnc_id": 6721,
"hgvs_c": "c.436G>A",
"hgvs_p": "p.Asp146Asn",
"transcript": "XM_047432503.1",
"protein_id": "XP_047288459.1",
"transcript_support_level": null,
"aa_start": 146,
"aa_end": null,
"aa_length": 475,
"cds_start": 436,
"cds_end": null,
"cds_length": 1428,
"cdna_start": 658,
"cdna_end": null,
"cdna_length": 2009,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTK",
"gene_hgnc_id": 6721,
"hgvs_c": "c.388G>A",
"hgvs_p": "p.Asp130Asn",
"transcript": "XM_047432505.1",
"protein_id": "XP_047288461.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 459,
"cds_start": 388,
"cds_end": null,
"cds_length": 1380,
"cdna_start": 851,
"cdna_end": null,
"cdna_length": 2202,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTK",
"gene_hgnc_id": 6721,
"hgvs_c": "c.226G>A",
"hgvs_p": "p.Asp76Asn",
"transcript": "XM_047432506.1",
"protein_id": "XP_047288462.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 405,
"cds_start": 226,
"cds_end": null,
"cds_length": 1218,
"cdna_start": 277,
"cdna_end": null,
"cdna_length": 1628,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTK",
"gene_hgnc_id": 6721,
"hgvs_c": "n.2025G>A",
"hgvs_p": null,
"transcript": "ENST00000563518.5",
"protein_id": null,
"transcript_support_level": 2,
"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": 3444,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTK",
"gene_hgnc_id": 6721,
"hgvs_c": "n.310G>A",
"hgvs_p": null,
"transcript": "ENST00000569283.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 582,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTK",
"gene_hgnc_id": 6721,
"hgvs_c": "n.1437G>A",
"hgvs_p": null,
"transcript": "XR_007064447.1",
"protein_id": null,
"transcript_support_level": null,
"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": 1531,
"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": 10,
"intron_rank_end": null,
"gene_symbol": "LTK",
"gene_hgnc_id": 6721,
"hgvs_c": "c.1243-167G>A",
"hgvs_p": null,
"transcript": "NM_001135685.2",
"protein_id": "NP_001129157.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 734,
"cds_start": -4,
"cds_end": null,
"cds_length": 2205,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2682,
"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": 10,
"intron_rank_end": null,
"gene_symbol": "LTK",
"gene_hgnc_id": 6721,
"hgvs_c": "c.1243-167G>A",
"hgvs_p": null,
"transcript": "ENST00000453182.2",
"protein_id": "ENSP00000392196.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 734,
"cds_start": -4,
"cds_end": null,
"cds_length": 2205,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2412,
"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": 10,
"intron_rank_end": null,
"gene_symbol": "LTK",
"gene_hgnc_id": 6721,
"hgvs_c": "c.1258-167G>A",
"hgvs_p": null,
"transcript": "XM_047432502.1",
"protein_id": "XP_047288458.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 739,
"cds_start": -4,
"cds_end": null,
"cds_length": 2220,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2697,
"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": 13,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "LTK",
"gene_hgnc_id": 6721,
"hgvs_c": "n.1540-167G>A",
"hgvs_p": null,
"transcript": "XR_007064446.1",
"protein_id": null,
"transcript_support_level": null,
"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": 1827,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "LTK",
"gene_hgnc_id": 6721,
"dbsnp": "rs35932273",
"frequency_reference_population": 0.025633812,
"hom_count_reference_population": 647,
"allele_count_reference_population": 41368,
"gnomad_exomes_af": 0.0263348,
"gnomad_genomes_af": 0.018906,
"gnomad_exomes_ac": 38489,
"gnomad_genomes_ac": 2879,
"gnomad_exomes_homalt": 597,
"gnomad_genomes_homalt": 50,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.005242139101028442,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.07000000029802322,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.289,
"revel_prediction": "Benign",
"alphamissense_score": 0.0848,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.38,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.942,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.07,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BS1,BS2",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000263800.11",
"gene_symbol": "LTK",
"hgnc_id": 6721,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1603G>A",
"hgvs_p": "p.Asp535Asn"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}