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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: 11-9030003-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=9030003&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 9030003,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001367977.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCUBE2",
"gene_hgnc_id": 30425,
"hgvs_c": "c.2384G>A",
"hgvs_p": "p.Arg795Gln",
"transcript": "NM_001367977.2",
"protein_id": "NP_001354906.1",
"transcript_support_level": null,
"aa_start": 795,
"aa_end": null,
"aa_length": 1028,
"cds_start": 2384,
"cds_end": null,
"cds_length": 3087,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000649792.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001367977.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCUBE2",
"gene_hgnc_id": 30425,
"hgvs_c": "c.2384G>A",
"hgvs_p": "p.Arg795Gln",
"transcript": "ENST00000649792.2",
"protein_id": "ENSP00000497523.1",
"transcript_support_level": null,
"aa_start": 795,
"aa_end": null,
"aa_length": 1028,
"cds_start": 2384,
"cds_end": null,
"cds_length": 3087,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001367977.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000649792.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCUBE2",
"gene_hgnc_id": 30425,
"hgvs_c": "c.1919G>A",
"hgvs_p": "p.Arg640Gln",
"transcript": "ENST00000450649.6",
"protein_id": "ENSP00000415187.2",
"transcript_support_level": 1,
"aa_start": 640,
"aa_end": null,
"aa_length": 807,
"cds_start": 1919,
"cds_end": null,
"cds_length": 2424,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000450649.6"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCUBE2",
"gene_hgnc_id": 30425,
"hgvs_c": "c.2297G>A",
"hgvs_p": "p.Arg766Gln",
"transcript": "NM_001330199.3",
"protein_id": "NP_001317128.1",
"transcript_support_level": null,
"aa_start": 766,
"aa_end": null,
"aa_length": 999,
"cds_start": 2297,
"cds_end": null,
"cds_length": 3000,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330199.3"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCUBE2",
"gene_hgnc_id": 30425,
"hgvs_c": "c.2297G>A",
"hgvs_p": "p.Arg766Gln",
"transcript": "ENST00000309263.7",
"protein_id": "ENSP00000310658.3",
"transcript_support_level": 5,
"aa_start": 766,
"aa_end": null,
"aa_length": 999,
"cds_start": 2297,
"cds_end": null,
"cds_length": 3000,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000309263.7"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCUBE2",
"gene_hgnc_id": 30425,
"hgvs_c": "c.2291G>A",
"hgvs_p": "p.Arg764Gln",
"transcript": "ENST00000936074.1",
"protein_id": "ENSP00000606133.1",
"transcript_support_level": null,
"aa_start": 764,
"aa_end": null,
"aa_length": 997,
"cds_start": 2291,
"cds_end": null,
"cds_length": 2994,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936074.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCUBE2",
"gene_hgnc_id": 30425,
"hgvs_c": "c.2279G>A",
"hgvs_p": "p.Arg760Gln",
"transcript": "ENST00000950246.1",
"protein_id": "ENSP00000620305.1",
"transcript_support_level": null,
"aa_start": 760,
"aa_end": null,
"aa_length": 993,
"cds_start": 2279,
"cds_end": null,
"cds_length": 2982,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950246.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCUBE2",
"gene_hgnc_id": 30425,
"hgvs_c": "c.2267G>A",
"hgvs_p": "p.Arg756Gln",
"transcript": "ENST00000950245.1",
"protein_id": "ENSP00000620304.1",
"transcript_support_level": null,
"aa_start": 756,
"aa_end": null,
"aa_length": 989,
"cds_start": 2267,
"cds_end": null,
"cds_length": 2970,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950245.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCUBE2",
"gene_hgnc_id": 30425,
"hgvs_c": "c.2213G>A",
"hgvs_p": "p.Arg738Gln",
"transcript": "NM_020974.4",
"protein_id": "NP_066025.2",
"transcript_support_level": null,
"aa_start": 738,
"aa_end": null,
"aa_length": 971,
"cds_start": 2213,
"cds_end": null,
"cds_length": 2916,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_020974.4"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCUBE2",
"gene_hgnc_id": 30425,
"hgvs_c": "c.2213G>A",
"hgvs_p": "p.Arg738Gln",
"transcript": "ENST00000520467.5",
"protein_id": "ENSP00000429969.1",
"transcript_support_level": 2,
"aa_start": 738,
"aa_end": null,
"aa_length": 971,
"cds_start": 2213,
"cds_end": null,
"cds_length": 2916,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000520467.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCUBE2",
"gene_hgnc_id": 30425,
"hgvs_c": "c.2180G>A",
"hgvs_p": "p.Arg727Gln",
"transcript": "ENST00000899097.1",
"protein_id": "ENSP00000569156.1",
"transcript_support_level": null,
"aa_start": 727,
"aa_end": null,
"aa_length": 960,
"cds_start": 2180,
"cds_end": null,
"cds_length": 2883,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899097.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCUBE2",
"gene_hgnc_id": 30425,
"hgvs_c": "c.2138G>A",
"hgvs_p": "p.Arg713Gln",
"transcript": "ENST00000936075.1",
"protein_id": "ENSP00000606134.1",
"transcript_support_level": null,
"aa_start": 713,
"aa_end": null,
"aa_length": 946,
"cds_start": 2138,
"cds_end": null,
"cds_length": 2841,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936075.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCUBE2",
"gene_hgnc_id": 30425,
"hgvs_c": "c.2126G>A",
"hgvs_p": "p.Arg709Gln",
"transcript": "ENST00000950248.1",
"protein_id": "ENSP00000620307.1",
"transcript_support_level": null,
"aa_start": 709,
"aa_end": null,
"aa_length": 942,
"cds_start": 2126,
"cds_end": null,
"cds_length": 2829,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950248.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCUBE2",
"gene_hgnc_id": 30425,
"hgvs_c": "c.2057G>A",
"hgvs_p": "p.Arg686Gln",
"transcript": "ENST00000899094.1",
"protein_id": "ENSP00000569153.1",
"transcript_support_level": null,
"aa_start": 686,
"aa_end": null,
"aa_length": 919,
"cds_start": 2057,
"cds_end": null,
"cds_length": 2760,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899094.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCUBE2",
"gene_hgnc_id": 30425,
"hgvs_c": "c.1919G>A",
"hgvs_p": "p.Arg640Gln",
"transcript": "ENST00000950244.1",
"protein_id": "ENSP00000620303.1",
"transcript_support_level": null,
"aa_start": 640,
"aa_end": null,
"aa_length": 914,
"cds_start": 1919,
"cds_end": null,
"cds_length": 2745,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950244.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCUBE2",
"gene_hgnc_id": 30425,
"hgvs_c": "c.2009G>A",
"hgvs_p": "p.Arg670Gln",
"transcript": "ENST00000950247.1",
"protein_id": "ENSP00000620306.1",
"transcript_support_level": null,
"aa_start": 670,
"aa_end": null,
"aa_length": 903,
"cds_start": 2009,
"cds_end": null,
"cds_length": 2712,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950247.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCUBE2",
"gene_hgnc_id": 30425,
"hgvs_c": "c.2000G>A",
"hgvs_p": "p.Arg667Gln",
"transcript": "ENST00000950243.1",
"protein_id": "ENSP00000620302.1",
"transcript_support_level": null,
"aa_start": 667,
"aa_end": null,
"aa_length": 900,
"cds_start": 2000,
"cds_end": null,
"cds_length": 2703,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950243.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCUBE2",
"gene_hgnc_id": 30425,
"hgvs_c": "c.1940G>A",
"hgvs_p": "p.Arg647Gln",
"transcript": "ENST00000899096.1",
"protein_id": "ENSP00000569155.1",
"transcript_support_level": null,
"aa_start": 647,
"aa_end": null,
"aa_length": 880,
"cds_start": 1940,
"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": "ENST00000899096.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCUBE2",
"gene_hgnc_id": 30425,
"hgvs_c": "c.1919G>A",
"hgvs_p": "p.Arg640Gln",
"transcript": "ENST00000899093.1",
"protein_id": "ENSP00000569152.1",
"transcript_support_level": null,
"aa_start": 640,
"aa_end": null,
"aa_length": 873,
"cds_start": 1919,
"cds_end": null,
"cds_length": 2622,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899093.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCUBE2",
"gene_hgnc_id": 30425,
"hgvs_c": "c.2057G>A",
"hgvs_p": "p.Arg686Gln",
"transcript": "ENST00000950242.1",
"protein_id": "ENSP00000620301.1",
"transcript_support_level": null,
"aa_start": 686,
"aa_end": null,
"aa_length": 853,
"cds_start": 2057,
"cds_end": null,
"cds_length": 2562,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950242.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCUBE2",
"gene_hgnc_id": 30425,
"hgvs_c": "c.1796G>A",
"hgvs_p": "p.Arg599Gln",
"transcript": "ENST00000950241.1",
"protein_id": "ENSP00000620300.1",
"transcript_support_level": null,
"aa_start": 599,
"aa_end": null,
"aa_length": 832,
"cds_start": 1796,
"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": "ENST00000950241.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCUBE2",
"gene_hgnc_id": 30425,
"hgvs_c": "c.1748G>A",
"hgvs_p": "p.Arg583Gln",
"transcript": "ENST00000899098.1",
"protein_id": "ENSP00000569157.1",
"transcript_support_level": null,
"aa_start": 583,
"aa_end": null,
"aa_length": 816,
"cds_start": 1748,
"cds_end": null,
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],
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"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"revel_prediction": "Uncertain_significance",
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"bayesdelnoaf_score": 0.01,
"bayesdelnoaf_prediction": "Uncertain_significance",
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"phylop100way_prediction": "Pathogenic",
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"acmg_score": 2,
"acmg_classification": "Uncertain_significance",
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"acmg_by_gene": [
{
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"pathogenic_score": 2,
"criteria": [
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],
"verdict": "Uncertain_significance",
"transcript": "NM_001367977.2",
"gene_symbol": "SCUBE2",
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"effects": [
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"inheritance_mode": "AR",
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{
"score": 2,
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"pathogenic_score": 2,
"criteria": [
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],
"verdict": "Uncertain_significance",
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"effects": [
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],
"inheritance_mode": "",
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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
}