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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: 15-41504581-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=41504581&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 41504581,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_002344.6",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTK",
"gene_hgnc_id": 6721,
"hgvs_c": "c.2180G>T",
"hgvs_p": "p.Arg727Leu",
"transcript": "NM_002344.6",
"protein_id": "NP_002335.2",
"transcript_support_level": null,
"aa_start": 727,
"aa_end": null,
"aa_length": 864,
"cds_start": 2180,
"cds_end": null,
"cds_length": 2595,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000263800.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002344.6"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTK",
"gene_hgnc_id": 6721,
"hgvs_c": "c.2180G>T",
"hgvs_p": "p.Arg727Leu",
"transcript": "ENST00000263800.11",
"protein_id": "ENSP00000263800.6",
"transcript_support_level": 1,
"aa_start": 727,
"aa_end": null,
"aa_length": 864,
"cds_start": 2180,
"cds_end": null,
"cds_length": 2595,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002344.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000263800.11"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTK",
"gene_hgnc_id": 6721,
"hgvs_c": "c.1997G>T",
"hgvs_p": "p.Arg666Leu",
"transcript": "ENST00000355166.9",
"protein_id": "ENSP00000347293.5",
"transcript_support_level": 1,
"aa_start": 666,
"aa_end": null,
"aa_length": 803,
"cds_start": 1997,
"cds_end": null,
"cds_length": 2412,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000355166.9"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTK",
"gene_hgnc_id": 6721,
"hgvs_c": "c.1274G>T",
"hgvs_p": "p.Arg425Leu",
"transcript": "ENST00000561619.5",
"protein_id": "ENSP00000458111.1",
"transcript_support_level": 1,
"aa_start": 425,
"aa_end": null,
"aa_length": 562,
"cds_start": 1274,
"cds_end": null,
"cds_length": 1689,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000561619.5"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTK",
"gene_hgnc_id": 6721,
"hgvs_c": "c.2228G>T",
"hgvs_p": "p.Arg743Leu",
"transcript": "ENST00000953759.1",
"protein_id": "ENSP00000623818.1",
"transcript_support_level": null,
"aa_start": 743,
"aa_end": null,
"aa_length": 880,
"cds_start": 2228,
"cds_end": null,
"cds_length": 2643,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953759.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTK",
"gene_hgnc_id": 6721,
"hgvs_c": "c.2168G>T",
"hgvs_p": "p.Arg723Leu",
"transcript": "ENST00000953763.1",
"protein_id": "ENSP00000623822.1",
"transcript_support_level": null,
"aa_start": 723,
"aa_end": null,
"aa_length": 860,
"cds_start": 2168,
"cds_end": null,
"cds_length": 2583,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953763.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTK",
"gene_hgnc_id": 6721,
"hgvs_c": "c.2084G>T",
"hgvs_p": "p.Arg695Leu",
"transcript": "ENST00000953760.1",
"protein_id": "ENSP00000623819.1",
"transcript_support_level": null,
"aa_start": 695,
"aa_end": null,
"aa_length": 832,
"cds_start": 2084,
"cds_end": null,
"cds_length": 2499,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953760.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTK",
"gene_hgnc_id": 6721,
"hgvs_c": "c.2045G>T",
"hgvs_p": "p.Arg682Leu",
"transcript": "ENST00000897467.1",
"protein_id": "ENSP00000567526.1",
"transcript_support_level": null,
"aa_start": 682,
"aa_end": null,
"aa_length": 819,
"cds_start": 2045,
"cds_end": null,
"cds_length": 2460,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897467.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTK",
"gene_hgnc_id": 6721,
"hgvs_c": "c.1997G>T",
"hgvs_p": "p.Arg666Leu",
"transcript": "NM_206961.4",
"protein_id": "NP_996844.1",
"transcript_support_level": null,
"aa_start": 666,
"aa_end": null,
"aa_length": 803,
"cds_start": 1997,
"cds_end": null,
"cds_length": 2412,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_206961.4"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTK",
"gene_hgnc_id": 6721,
"hgvs_c": "c.1973G>T",
"hgvs_p": "p.Arg658Leu",
"transcript": "ENST00000953761.1",
"protein_id": "ENSP00000623820.1",
"transcript_support_level": null,
"aa_start": 658,
"aa_end": null,
"aa_length": 795,
"cds_start": 1973,
"cds_end": null,
"cds_length": 2388,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953761.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTK",
"gene_hgnc_id": 6721,
"hgvs_c": "c.1895G>T",
"hgvs_p": "p.Arg632Leu",
"transcript": "ENST00000953764.1",
"protein_id": "ENSP00000623823.1",
"transcript_support_level": null,
"aa_start": 632,
"aa_end": null,
"aa_length": 769,
"cds_start": 1895,
"cds_end": null,
"cds_length": 2310,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953764.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTK",
"gene_hgnc_id": 6721,
"hgvs_c": "c.1877G>T",
"hgvs_p": "p.Arg626Leu",
"transcript": "ENST00000953762.1",
"protein_id": "ENSP00000623821.1",
"transcript_support_level": null,
"aa_start": 626,
"aa_end": null,
"aa_length": 763,
"cds_start": 1877,
"cds_end": null,
"cds_length": 2292,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953762.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTK",
"gene_hgnc_id": 6721,
"hgvs_c": "c.1790G>T",
"hgvs_p": "p.Arg597Leu",
"transcript": "NM_001135685.2",
"protein_id": "NP_001129157.1",
"transcript_support_level": null,
"aa_start": 597,
"aa_end": null,
"aa_length": 734,
"cds_start": 1790,
"cds_end": null,
"cds_length": 2205,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001135685.2"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTK",
"gene_hgnc_id": 6721,
"hgvs_c": "c.1790G>T",
"hgvs_p": "p.Arg597Leu",
"transcript": "ENST00000453182.2",
"protein_id": "ENSP00000392196.2",
"transcript_support_level": 2,
"aa_start": 597,
"aa_end": null,
"aa_length": 734,
"cds_start": 1790,
"cds_end": null,
"cds_length": 2205,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000453182.2"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTK",
"gene_hgnc_id": 6721,
"hgvs_c": "c.1694G>T",
"hgvs_p": "p.Arg565Leu",
"transcript": "ENST00000897466.1",
"protein_id": "ENSP00000567525.1",
"transcript_support_level": null,
"aa_start": 565,
"aa_end": null,
"aa_length": 702,
"cds_start": 1694,
"cds_end": null,
"cds_length": 2109,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897466.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTK",
"gene_hgnc_id": 6721,
"hgvs_c": "c.1289G>T",
"hgvs_p": "p.Arg430Leu",
"transcript": "ENST00000953765.1",
"protein_id": "ENSP00000623824.1",
"transcript_support_level": null,
"aa_start": 430,
"aa_end": null,
"aa_length": 567,
"cds_start": 1289,
"cds_end": null,
"cds_length": 1704,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953765.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTK",
"gene_hgnc_id": 6721,
"hgvs_c": "c.1226G>T",
"hgvs_p": "p.Arg409Leu",
"transcript": "ENST00000897468.1",
"protein_id": "ENSP00000567527.1",
"transcript_support_level": null,
"aa_start": 409,
"aa_end": null,
"aa_length": 546,
"cds_start": 1226,
"cds_end": null,
"cds_length": 1641,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897468.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTK",
"gene_hgnc_id": 6721,
"hgvs_c": "c.2060G>T",
"hgvs_p": "p.Arg687Leu",
"transcript": "XM_011521557.3",
"protein_id": "XP_011519859.1",
"transcript_support_level": null,
"aa_start": 687,
"aa_end": null,
"aa_length": 824,
"cds_start": 2060,
"cds_end": null,
"cds_length": 2475,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011521557.3"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTK",
"gene_hgnc_id": 6721,
"hgvs_c": "c.2045G>T",
"hgvs_p": "p.Arg682Leu",
"transcript": "XM_047432499.1",
"protein_id": "XP_047288455.1",
"transcript_support_level": null,
"aa_start": 682,
"aa_end": null,
"aa_length": 819,
"cds_start": 2045,
"cds_end": null,
"cds_length": 2460,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432499.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTK",
"gene_hgnc_id": 6721,
"hgvs_c": "c.2012G>T",
"hgvs_p": "p.Arg671Leu",
"transcript": "XM_047432500.1",
"protein_id": "XP_047288456.1",
"transcript_support_level": null,
"aa_start": 671,
"aa_end": null,
"aa_length": 808,
"cds_start": 2012,
"cds_end": null,
"cds_length": 2427,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432500.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTK",
"gene_hgnc_id": 6721,
"hgvs_c": "c.1916G>T",
"hgvs_p": "p.Arg639Leu",
"transcript": "XM_047432501.1",
"protein_id": "XP_047288457.1",
"transcript_support_level": null,
"aa_start": 639,
"aa_end": null,
"aa_length": 776,
"cds_start": 1916,
"cds_end": null,
"cds_length": 2331,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432501.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTK",
"gene_hgnc_id": 6721,
"hgvs_c": "c.1805G>T",
"hgvs_p": "p.Arg602Leu",
"transcript": "XM_047432502.1",
"protein_id": "XP_047288458.1",
"transcript_support_level": null,
"aa_start": 602,
"aa_end": null,
"aa_length": 739,
"cds_start": 1805,
"cds_end": null,
"cds_length": 2220,
"cdna_start": null,
"cdna_end": null,
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{
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"BP4_Moderate"
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"verdict": "Uncertain_significance",
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"clinvar_disease": "",
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"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}