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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: 19-48837328-TGC-CGG (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=48837328&ref=TGC&alt=CGG&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "PLEKHA4",
"hgnc_id": 14339,
"hgvs_c": "c.2311_2313delGCAinsCCG",
"hgvs_p": "p.Ala771Pro",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_001438306.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "CGG",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "19",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 779,
"aa_ref": "A",
"aa_start": 767,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3073,
"cdna_start": 2842,
"cds_end": null,
"cds_length": 2340,
"cds_start": 2299,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_020904.3",
"gene_hgnc_id": 14339,
"gene_symbol": "PLEKHA4",
"hgvs_c": "c.2299_2301delGCAinsCCG",
"hgvs_p": "p.Ala767Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000263265.11",
"protein_coding": true,
"protein_id": "NP_065955.2",
"strand": false,
"transcript": "NM_020904.3",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 779,
"aa_ref": "A",
"aa_start": 767,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3073,
"cdna_start": 2842,
"cds_end": null,
"cds_length": 2340,
"cds_start": 2299,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000263265.11",
"gene_hgnc_id": 14339,
"gene_symbol": "PLEKHA4",
"hgvs_c": "c.2299_2301delGCAinsCCG",
"hgvs_p": "p.Ala767Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_020904.3",
"protein_coding": true,
"protein_id": "ENSP00000263265.5",
"strand": false,
"transcript": "ENST00000263265.11",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 583,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2614,
"cdna_start": null,
"cds_end": null,
"cds_length": 1752,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000355496.9",
"gene_hgnc_id": 14339,
"gene_symbol": "PLEKHA4",
"hgvs_c": "c.*251_*253delGCAinsCCG",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000347683.4",
"strand": false,
"transcript": "ENST00000355496.9",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 786,
"aa_ref": "A",
"aa_start": 774,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3093,
"cdna_start": 2863,
"cds_end": null,
"cds_length": 2361,
"cds_start": 2320,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000882972.1",
"gene_hgnc_id": 14339,
"gene_symbol": "PLEKHA4",
"hgvs_c": "c.2320_2322delGCAinsCCG",
"hgvs_p": "p.Ala774Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553031.1",
"strand": false,
"transcript": "ENST00000882972.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 783,
"aa_ref": "A",
"aa_start": 771,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3085,
"cdna_start": 2854,
"cds_end": null,
"cds_length": 2352,
"cds_start": 2311,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001438306.1",
"gene_hgnc_id": 14339,
"gene_symbol": "PLEKHA4",
"hgvs_c": "c.2311_2313delGCAinsCCG",
"hgvs_p": "p.Ala771Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001425235.1",
"strand": false,
"transcript": "NM_001438306.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 783,
"aa_ref": "A",
"aa_start": 771,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3133,
"cdna_start": 2897,
"cds_end": null,
"cds_length": 2352,
"cds_start": 2311,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000882967.1",
"gene_hgnc_id": 14339,
"gene_symbol": "PLEKHA4",
"hgvs_c": "c.2311_2313delGCAinsCCG",
"hgvs_p": "p.Ala771Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553026.1",
"strand": false,
"transcript": "ENST00000882967.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 779,
"aa_ref": "A",
"aa_start": 767,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3100,
"cdna_start": 2869,
"cds_end": null,
"cds_length": 2340,
"cds_start": 2299,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000882976.1",
"gene_hgnc_id": 14339,
"gene_symbol": "PLEKHA4",
"hgvs_c": "c.2299_2301delGCAinsCCG",
"hgvs_p": "p.Ala767Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553035.1",
"strand": false,
"transcript": "ENST00000882976.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 778,
"aa_ref": "A",
"aa_start": 766,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3064,
"cdna_start": 2833,
"cds_end": null,
"cds_length": 2337,
"cds_start": 2296,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000882977.1",
"gene_hgnc_id": 14339,
"gene_symbol": "PLEKHA4",
"hgvs_c": "c.2296_2298delGCAinsCCG",
"hgvs_p": "p.Ala766Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553036.1",
"strand": false,
"transcript": "ENST00000882977.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 778,
"aa_ref": "A",
"aa_start": 766,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3062,
"cdna_start": 2831,
"cds_end": null,
"cds_length": 2337,
"cds_start": 2296,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000956196.1",
"gene_hgnc_id": 14339,
"gene_symbol": "PLEKHA4",
"hgvs_c": "c.2296_2298delGCAinsCCG",
"hgvs_p": "p.Ala766Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000626255.1",
"strand": false,
"transcript": "ENST00000956196.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 761,
"aa_ref": "A",
"aa_start": 749,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3018,
"cdna_start": 2789,
"cds_end": null,
"cds_length": 2286,
"cds_start": 2245,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000882973.1",
"gene_hgnc_id": 14339,
"gene_symbol": "PLEKHA4",
"hgvs_c": "c.2245_2247delGCAinsCCG",
"hgvs_p": "p.Ala749Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553032.1",
"strand": false,
"transcript": "ENST00000882973.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 754,
"aa_ref": "A",
"aa_start": 742,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2998,
"cdna_start": 2767,
"cds_end": null,
"cds_length": 2265,
"cds_start": 2224,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001438307.1",
"gene_hgnc_id": 14339,
"gene_symbol": "PLEKHA4",
"hgvs_c": "c.2224_2226delGCAinsCCG",
"hgvs_p": "p.Ala742Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001425236.1",
"strand": false,
"transcript": "NM_001438307.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 754,
"aa_ref": "A",
"aa_start": 742,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3242,
"cdna_start": 3005,
"cds_end": null,
"cds_length": 2265,
"cds_start": 2224,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000882966.1",
"gene_hgnc_id": 14339,
"gene_symbol": "PLEKHA4",
"hgvs_c": "c.2224_2226delGCAinsCCG",
"hgvs_p": "p.Ala742Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553025.1",
"strand": false,
"transcript": "ENST00000882966.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 754,
"aa_ref": "A",
"aa_start": 742,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2998,
"cdna_start": 2768,
"cds_end": null,
"cds_length": 2265,
"cds_start": 2224,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000956197.1",
"gene_hgnc_id": 14339,
"gene_symbol": "PLEKHA4",
"hgvs_c": "c.2224_2226delGCAinsCCG",
"hgvs_p": "p.Ala742Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000626256.1",
"strand": false,
"transcript": "ENST00000956197.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 753,
"aa_ref": "A",
"aa_start": 741,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3016,
"cdna_start": 2780,
"cds_end": null,
"cds_length": 2262,
"cds_start": 2221,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000882969.1",
"gene_hgnc_id": 14339,
"gene_symbol": "PLEKHA4",
"hgvs_c": "c.2221_2223delGCAinsCCG",
"hgvs_p": "p.Ala741Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553028.1",
"strand": false,
"transcript": "ENST00000882969.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 747,
"aa_ref": "A",
"aa_start": 735,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2934,
"cdna_start": 2698,
"cds_end": null,
"cds_length": 2244,
"cds_start": 2203,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000594100.2",
"gene_hgnc_id": 14339,
"gene_symbol": "PLEKHA4",
"hgvs_c": "c.2203_2205delGCAinsCCG",
"hgvs_p": "p.Ala735Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000471274.2",
"strand": false,
"transcript": "ENST00000594100.2",
"transcript_support_level": 3
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 743,
"aa_ref": "A",
"aa_start": 731,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2965,
"cdna_start": 2734,
"cds_end": null,
"cds_length": 2232,
"cds_start": 2191,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001438308.1",
"gene_hgnc_id": 14339,
"gene_symbol": "PLEKHA4",
"hgvs_c": "c.2191_2193delGCAinsCCG",
"hgvs_p": "p.Ala731Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001425237.1",
"strand": false,
"transcript": "NM_001438308.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 743,
"aa_ref": "A",
"aa_start": 731,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2990,
"cdna_start": 2754,
"cds_end": null,
"cds_length": 2232,
"cds_start": 2191,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000882968.1",
"gene_hgnc_id": 14339,
"gene_symbol": "PLEKHA4",
"hgvs_c": "c.2191_2193delGCAinsCCG",
"hgvs_p": "p.Ala731Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553027.1",
"strand": false,
"transcript": "ENST00000882968.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 742,
"aa_ref": "A",
"aa_start": 730,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2981,
"cdna_start": 2751,
"cds_end": null,
"cds_length": 2229,
"cds_start": 2188,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000956195.1",
"gene_hgnc_id": 14339,
"gene_symbol": "PLEKHA4",
"hgvs_c": "c.2188_2190delGCAinsCCG",
"hgvs_p": "p.Ala730Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000626254.1",
"strand": false,
"transcript": "ENST00000956195.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 721,
"aa_ref": "A",
"aa_start": 709,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2888,
"cdna_start": 2652,
"cds_end": null,
"cds_length": 2166,
"cds_start": 2125,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000882980.1",
"gene_hgnc_id": 14339,
"gene_symbol": "PLEKHA4",
"hgvs_c": "c.2125_2127delGCAinsCCG",
"hgvs_p": "p.Ala709Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553039.1",
"strand": false,
"transcript": "ENST00000882980.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 720,
"aa_ref": "A",
"aa_start": 708,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2893,
"cdna_start": 2662,
"cds_end": null,
"cds_length": 2163,
"cds_start": 2122,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000882975.1",
"gene_hgnc_id": 14339,
"gene_symbol": "PLEKHA4",
"hgvs_c": "c.2122_2124delGCAinsCCG",
"hgvs_p": "p.Ala708Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553034.1",
"strand": false,
"transcript": "ENST00000882975.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 718,
"aa_ref": "A",
"aa_start": 706,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2883,
"cdna_start": 2653,
"cds_end": null,
"cds_length": 2157,
"cds_start": 2116,
"consequences": [
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