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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: 11-47414456-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=47414456&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 47414456,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000362021.9",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "P",
"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": "SLC39A13",
"gene_hgnc_id": 20859,
"hgvs_c": "c.767T>C",
"hgvs_p": "p.Leu256Pro",
"transcript": "NM_001128225.3",
"protein_id": "NP_001121697.2",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 371,
"cds_start": 767,
"cds_end": null,
"cds_length": 1116,
"cdna_start": 848,
"cdna_end": null,
"cdna_length": 2330,
"mane_select": "ENST00000362021.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": true,
"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": "SLC39A13",
"gene_hgnc_id": 20859,
"hgvs_c": "c.767T>C",
"hgvs_p": "p.Leu256Pro",
"transcript": "ENST00000362021.9",
"protein_id": "ENSP00000354689.4",
"transcript_support_level": 1,
"aa_start": 256,
"aa_end": null,
"aa_length": 371,
"cds_start": 767,
"cds_end": null,
"cds_length": 1116,
"cdna_start": 848,
"cdna_end": null,
"cdna_length": 2330,
"mane_select": "NM_001128225.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"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": "SLC39A13",
"gene_hgnc_id": 20859,
"hgvs_c": "c.767T>C",
"hgvs_p": "p.Leu256Pro",
"transcript": "ENST00000354884.8",
"protein_id": "ENSP00000346956.4",
"transcript_support_level": 1,
"aa_start": 256,
"aa_end": null,
"aa_length": 364,
"cds_start": 767,
"cds_end": null,
"cds_length": 1095,
"cdna_start": 828,
"cdna_end": null,
"cdna_length": 2289,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC39A13",
"gene_hgnc_id": 20859,
"hgvs_c": "c.767T>C",
"hgvs_p": "p.Leu256Pro",
"transcript": "NM_001441271.1",
"protein_id": "NP_001428200.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 364,
"cds_start": 767,
"cds_end": null,
"cds_length": 1095,
"cdna_start": 927,
"cdna_end": null,
"cdna_length": 2388,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"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": "SLC39A13",
"gene_hgnc_id": 20859,
"hgvs_c": "c.767T>C",
"hgvs_p": "p.Leu256Pro",
"transcript": "NM_152264.5",
"protein_id": "NP_689477.3",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 364,
"cds_start": 767,
"cds_end": null,
"cds_length": 1095,
"cdna_start": 869,
"cdna_end": null,
"cdna_length": 2330,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"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": "SLC39A13",
"gene_hgnc_id": 20859,
"hgvs_c": "c.659T>C",
"hgvs_p": "p.Leu220Pro",
"transcript": "NM_001441272.1",
"protein_id": "NP_001428201.1",
"transcript_support_level": null,
"aa_start": 220,
"aa_end": null,
"aa_length": 335,
"cds_start": 659,
"cds_end": null,
"cds_length": 1008,
"cdna_start": 740,
"cdna_end": null,
"cdna_length": 2222,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"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": "SLC39A13",
"gene_hgnc_id": 20859,
"hgvs_c": "c.677T>C",
"hgvs_p": "p.Leu226Pro",
"transcript": "NM_001441273.1",
"protein_id": "NP_001428202.1",
"transcript_support_level": null,
"aa_start": 226,
"aa_end": null,
"aa_length": 334,
"cds_start": 677,
"cds_end": null,
"cds_length": 1005,
"cdna_start": 758,
"cdna_end": null,
"cdna_length": 2219,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"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": "SLC39A13",
"gene_hgnc_id": 20859,
"hgvs_c": "c.767T>C",
"hgvs_p": "p.Leu256Pro",
"transcript": "NM_001330245.2",
"protein_id": "NP_001317174.2",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 325,
"cds_start": 767,
"cds_end": null,
"cds_length": 978,
"cdna_start": 848,
"cdna_end": null,
"cdna_length": 2305,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC39A13",
"gene_hgnc_id": 20859,
"hgvs_c": "c.767T>C",
"hgvs_p": "p.Leu256Pro",
"transcript": "ENST00000533076.5",
"protein_id": "ENSP00000434290.1",
"transcript_support_level": 2,
"aa_start": 256,
"aa_end": null,
"aa_length": 325,
"cds_start": 767,
"cds_end": null,
"cds_length": 978,
"cdna_start": 1177,
"cdna_end": null,
"cdna_length": 1805,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"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": "SLC39A13",
"gene_hgnc_id": 20859,
"hgvs_c": "c.569T>C",
"hgvs_p": "p.Leu190Pro",
"transcript": "NM_001441274.1",
"protein_id": "NP_001428203.1",
"transcript_support_level": null,
"aa_start": 190,
"aa_end": null,
"aa_length": 298,
"cds_start": 569,
"cds_end": null,
"cds_length": 897,
"cdna_start": 650,
"cdna_end": null,
"cdna_length": 2111,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"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": "SLC39A13",
"gene_hgnc_id": 20859,
"hgvs_c": "c.659T>C",
"hgvs_p": "p.Leu220Pro",
"transcript": "NM_001441275.1",
"protein_id": "NP_001428204.1",
"transcript_support_level": null,
"aa_start": 220,
"aa_end": null,
"aa_length": 289,
"cds_start": 659,
"cds_end": null,
"cds_length": 870,
"cdna_start": 740,
"cdna_end": null,
"cdna_length": 2197,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC39A13",
"gene_hgnc_id": 20859,
"hgvs_c": "c.659T>C",
"hgvs_p": "p.Leu220Pro",
"transcript": "ENST00000531865.5",
"protein_id": "ENSP00000434684.1",
"transcript_support_level": 5,
"aa_start": 220,
"aa_end": null,
"aa_length": 257,
"cds_start": 659,
"cds_end": null,
"cds_length": 776,
"cdna_start": 702,
"cdna_end": null,
"cdna_length": 846,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC39A13",
"gene_hgnc_id": 20859,
"hgvs_c": "c.659T>C",
"hgvs_p": "p.Leu220Pro",
"transcript": "NM_001441276.1",
"protein_id": "NP_001428205.1",
"transcript_support_level": null,
"aa_start": 220,
"aa_end": null,
"aa_length": 246,
"cds_start": 659,
"cds_end": null,
"cds_length": 741,
"cdna_start": 740,
"cdna_end": null,
"cdna_length": 2068,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"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": "SLC39A13",
"gene_hgnc_id": 20859,
"hgvs_c": "c.812T>C",
"hgvs_p": "p.Leu271Pro",
"transcript": "XM_011520466.2",
"protein_id": "XP_011518768.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 386,
"cds_start": 812,
"cds_end": null,
"cds_length": 1161,
"cdna_start": 850,
"cdna_end": null,
"cdna_length": 2332,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"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": "SLC39A13",
"gene_hgnc_id": 20859,
"hgvs_c": "c.767T>C",
"hgvs_p": "p.Leu256Pro",
"transcript": "XM_011520467.2",
"protein_id": "XP_011518769.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 371,
"cds_start": 767,
"cds_end": null,
"cds_length": 1116,
"cdna_start": 1033,
"cdna_end": null,
"cdna_length": 2515,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"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": "SLC39A13",
"gene_hgnc_id": 20859,
"hgvs_c": "c.767T>C",
"hgvs_p": "p.Leu256Pro",
"transcript": "XM_017018540.2",
"protein_id": "XP_016874029.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 364,
"cds_start": 767,
"cds_end": null,
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"cdna_start": 848,
"cdna_end": null,
"cdna_length": 2309,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"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": "SLC39A13",
"gene_hgnc_id": 20859,
"hgvs_c": "c.704T>C",
"hgvs_p": "p.Leu235Pro",
"transcript": "XM_011520469.1",
"protein_id": "XP_011518771.1",
"transcript_support_level": null,
"aa_start": 235,
"aa_end": null,
"aa_length": 350,
"cds_start": 704,
"cds_end": null,
"cds_length": 1053,
"cdna_start": 740,
"cdna_end": null,
"cdna_length": 2222,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"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": "SLC39A13",
"gene_hgnc_id": 20859,
"hgvs_c": "c.704T>C",
"hgvs_p": "p.Leu235Pro",
"transcript": "XM_006718383.4",
"protein_id": "XP_006718446.1",
"transcript_support_level": null,
"aa_start": 235,
"aa_end": null,
"aa_length": 343,
"cds_start": 704,
"cds_end": null,
"cds_length": 1032,
"cdna_start": 740,
"cdna_end": null,
"cdna_length": 2201,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC39A13",
"gene_hgnc_id": 20859,
"hgvs_c": "c.812T>C",
"hgvs_p": "p.Leu271Pro",
"transcript": "XM_006718384.3",
"protein_id": "XP_006718447.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 340,
"cds_start": 812,
"cds_end": null,
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"cdna_start": 850,
"cdna_end": null,
"cdna_length": 1098,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"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": "SLC39A13",
"gene_hgnc_id": 20859,
"hgvs_c": "c.659T>C",
"hgvs_p": "p.Leu220Pro",
"transcript": "XM_017018541.3",
"protein_id": "XP_016874030.1",
"transcript_support_level": null,
"aa_start": 220,
"aa_end": null,
"aa_length": 328,
"cds_start": 659,
"cds_end": null,
"cds_length": 987,
"cdna_start": 740,
"cdna_end": null,
"cdna_length": 2201,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC39A13",
"gene_hgnc_id": 20859,
"hgvs_c": "n.20T>C",
"hgvs_p": null,
"transcript": "ENST00000527829.1",
"protein_id": null,
"transcript_support_level": 4,
"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": 529,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC39A13",
"gene_hgnc_id": 20859,
"hgvs_c": "n.161T>C",
"hgvs_p": null,
"transcript": "ENST00000528979.1",
"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": 499,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC39A13",
"gene_hgnc_id": 20859,
"hgvs_c": "n.1033T>C",
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"computational_prediction_selected": "Pathogenic",
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"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.809,
"revel_prediction": "Pathogenic",
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"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.23,
"bayesdelnoaf_prediction": "Pathogenic",
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"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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{
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],
"verdict": "Likely_pathogenic",
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"inheritance_mode": "AR",
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],
"clinvar_disease": " spondylocheirodysplastic type,Ehlers-Danlos syndrome",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Ehlers-Danlos syndrome, spondylocheirodysplastic type",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}