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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: 18-9550180-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=9550180&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 9550180,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001042388.3",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "K",
"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": "PPP4R1",
"gene_hgnc_id": 9320,
"hgvs_c": "c.2419G>A",
"hgvs_p": "p.Glu807Lys",
"transcript": "NM_001042388.3",
"protein_id": "NP_001035847.1",
"transcript_support_level": null,
"aa_start": 807,
"aa_end": null,
"aa_length": 950,
"cds_start": 2419,
"cds_end": null,
"cds_length": 2853,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000400556.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001042388.3"
},
{
"aa_ref": "E",
"aa_alt": "K",
"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": "PPP4R1",
"gene_hgnc_id": 9320,
"hgvs_c": "c.2419G>A",
"hgvs_p": "p.Glu807Lys",
"transcript": "ENST00000400556.8",
"protein_id": "ENSP00000383402.3",
"transcript_support_level": 1,
"aa_start": 807,
"aa_end": null,
"aa_length": 950,
"cds_start": 2419,
"cds_end": null,
"cds_length": 2853,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001042388.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000400556.8"
},
{
"aa_ref": "E",
"aa_alt": "K",
"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": "PPP4R1",
"gene_hgnc_id": 9320,
"hgvs_c": "c.2368G>A",
"hgvs_p": "p.Glu790Lys",
"transcript": "ENST00000400555.7",
"protein_id": "ENSP00000383401.3",
"transcript_support_level": 1,
"aa_start": 790,
"aa_end": null,
"aa_length": 933,
"cds_start": 2368,
"cds_end": null,
"cds_length": 2802,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000400555.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP4R1",
"gene_hgnc_id": 9320,
"hgvs_c": "n.1669G>A",
"hgvs_p": null,
"transcript": "ENST00000582594.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000582594.5"
},
{
"aa_ref": "E",
"aa_alt": "K",
"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": "PPP4R1",
"gene_hgnc_id": 9320,
"hgvs_c": "c.2368G>A",
"hgvs_p": "p.Glu790Lys",
"transcript": "NM_005134.4",
"protein_id": "NP_005125.1",
"transcript_support_level": null,
"aa_start": 790,
"aa_end": null,
"aa_length": 933,
"cds_start": 2368,
"cds_end": null,
"cds_length": 2802,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005134.4"
},
{
"aa_ref": "E",
"aa_alt": "K",
"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": "PPP4R1",
"gene_hgnc_id": 9320,
"hgvs_c": "c.2323G>A",
"hgvs_p": "p.Glu775Lys",
"transcript": "ENST00000962496.1",
"protein_id": "ENSP00000632555.1",
"transcript_support_level": null,
"aa_start": 775,
"aa_end": null,
"aa_length": 918,
"cds_start": 2323,
"cds_end": null,
"cds_length": 2757,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962496.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"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": "PPP4R1",
"gene_hgnc_id": 9320,
"hgvs_c": "c.2311G>A",
"hgvs_p": "p.Glu771Lys",
"transcript": "ENST00000962495.1",
"protein_id": "ENSP00000632554.1",
"transcript_support_level": null,
"aa_start": 771,
"aa_end": null,
"aa_length": 914,
"cds_start": 2311,
"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": "ENST00000962495.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"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": "PPP4R1",
"gene_hgnc_id": 9320,
"hgvs_c": "c.2260G>A",
"hgvs_p": "p.Glu754Lys",
"transcript": "ENST00000962497.1",
"protein_id": "ENSP00000632556.1",
"transcript_support_level": null,
"aa_start": 754,
"aa_end": null,
"aa_length": 897,
"cds_start": 2260,
"cds_end": null,
"cds_length": 2694,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962497.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"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": "PPP4R1",
"gene_hgnc_id": 9320,
"hgvs_c": "c.2239G>A",
"hgvs_p": "p.Glu747Lys",
"transcript": "ENST00000886293.1",
"protein_id": "ENSP00000556352.1",
"transcript_support_level": null,
"aa_start": 747,
"aa_end": null,
"aa_length": 890,
"cds_start": 2239,
"cds_end": null,
"cds_length": 2673,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886293.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"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": "PPP4R1",
"gene_hgnc_id": 9320,
"hgvs_c": "c.2152G>A",
"hgvs_p": "p.Glu718Lys",
"transcript": "NM_001382562.1",
"protein_id": "NP_001369491.1",
"transcript_support_level": null,
"aa_start": 718,
"aa_end": null,
"aa_length": 861,
"cds_start": 2152,
"cds_end": null,
"cds_length": 2586,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001382562.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"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": "PPP4R1",
"gene_hgnc_id": 9320,
"hgvs_c": "c.2086G>A",
"hgvs_p": "p.Glu696Lys",
"transcript": "ENST00000924156.1",
"protein_id": "ENSP00000594215.1",
"transcript_support_level": null,
"aa_start": 696,
"aa_end": null,
"aa_length": 839,
"cds_start": 2086,
"cds_end": null,
"cds_length": 2520,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924156.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"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": "PPP4R1",
"gene_hgnc_id": 9320,
"hgvs_c": "c.2035G>A",
"hgvs_p": "p.Glu679Lys",
"transcript": "ENST00000886292.1",
"protein_id": "ENSP00000556351.1",
"transcript_support_level": null,
"aa_start": 679,
"aa_end": null,
"aa_length": 822,
"cds_start": 2035,
"cds_end": null,
"cds_length": 2469,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886292.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"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": "PPP4R1",
"gene_hgnc_id": 9320,
"hgvs_c": "c.1981G>A",
"hgvs_p": "p.Glu661Lys",
"transcript": "ENST00000962498.1",
"protein_id": "ENSP00000632557.1",
"transcript_support_level": null,
"aa_start": 661,
"aa_end": null,
"aa_length": 804,
"cds_start": 1981,
"cds_end": null,
"cds_length": 2415,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962498.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"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": "PPP4R1",
"gene_hgnc_id": 9320,
"hgvs_c": "c.1930G>A",
"hgvs_p": "p.Glu644Lys",
"transcript": "ENST00000924157.1",
"protein_id": "ENSP00000594216.1",
"transcript_support_level": null,
"aa_start": 644,
"aa_end": null,
"aa_length": 787,
"cds_start": 1930,
"cds_end": null,
"cds_length": 2364,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924157.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"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": "PPP4R1",
"gene_hgnc_id": 9320,
"hgvs_c": "c.2575G>A",
"hgvs_p": "p.Glu859Lys",
"transcript": "XM_011525775.4",
"protein_id": "XP_011524077.1",
"transcript_support_level": null,
"aa_start": 859,
"aa_end": null,
"aa_length": 1002,
"cds_start": 2575,
"cds_end": null,
"cds_length": 3009,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011525775.4"
},
{
"aa_ref": "E",
"aa_alt": "K",
"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": "PPP4R1",
"gene_hgnc_id": 9320,
"hgvs_c": "c.2524G>A",
"hgvs_p": "p.Glu842Lys",
"transcript": "XM_011525776.2",
"protein_id": "XP_011524078.1",
"transcript_support_level": null,
"aa_start": 842,
"aa_end": null,
"aa_length": 985,
"cds_start": 2524,
"cds_end": null,
"cds_length": 2958,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011525776.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"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": "PPP4R1",
"gene_hgnc_id": 9320,
"hgvs_c": "c.2416G>A",
"hgvs_p": "p.Glu806Lys",
"transcript": "XM_017026105.3",
"protein_id": "XP_016881594.1",
"transcript_support_level": null,
"aa_start": 806,
"aa_end": null,
"aa_length": 949,
"cds_start": 2416,
"cds_end": null,
"cds_length": 2850,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017026105.3"
},
{
"aa_ref": "E",
"aa_alt": "K",
"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": "PPP4R1",
"gene_hgnc_id": 9320,
"hgvs_c": "c.2365G>A",
"hgvs_p": "p.Glu789Lys",
"transcript": "XM_047437973.1",
"protein_id": "XP_047293929.1",
"transcript_support_level": null,
"aa_start": 789,
"aa_end": null,
"aa_length": 932,
"cds_start": 2365,
"cds_end": null,
"cds_length": 2799,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047437973.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"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": "PPP4R1",
"gene_hgnc_id": 9320,
"hgvs_c": "c.2260G>A",
"hgvs_p": "p.Glu754Lys",
"transcript": "XM_047437974.1",
"protein_id": "XP_047293930.1",
"transcript_support_level": null,
"aa_start": 754,
"aa_end": null,
"aa_length": 897,
"cds_start": 2260,
"cds_end": null,
"cds_length": 2694,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047437974.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"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": "PPP4R1",
"gene_hgnc_id": 9320,
"hgvs_c": "c.2242G>A",
"hgvs_p": "p.Glu748Lys",
"transcript": "XM_011525779.4",
"protein_id": "XP_011524081.1",
"transcript_support_level": null,
"aa_start": 748,
"aa_end": null,
"aa_length": 891,
"cds_start": 2242,
"cds_end": null,
"cds_length": 2676,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011525779.4"
},
{
"aa_ref": "E",
"aa_alt": "K",
"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": "PPP4R1",
"gene_hgnc_id": 9320,
"hgvs_c": "c.2209G>A",
"hgvs_p": "p.Glu737Lys",
"transcript": "XM_047437975.1",
"protein_id": "XP_047293931.1",
"transcript_support_level": null,
"aa_start": 737,
"aa_end": null,
"aa_length": 880,
"cds_start": 2209,
"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": "XM_047437975.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"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": "PPP4R1",
"gene_hgnc_id": 9320,
"hgvs_c": "c.2191G>A",
"hgvs_p": "p.Glu731Lys",
"transcript": "XM_047437976.1",
"protein_id": "XP_047293932.1",
"transcript_support_level": null,
"aa_start": 731,
"aa_end": null,
"aa_length": 874,
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"bayesdelnoaf_score": 0.06,
"bayesdelnoaf_prediction": "Uncertain_significance",
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"phylop100way_prediction": "Pathogenic",
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"acmg_classification": "Uncertain_significance",
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{
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"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
}