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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: X-66599555-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=66599555&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 6,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "EDA2R",
"hgnc_id": 17756,
"hgvs_c": "c.886G>A",
"hgvs_p": "p.Gly296Arg",
"inheritance_mode": "XL",
"pathogenic_score": 2,
"score": -4,
"transcript": "NM_001242310.1",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP6_Moderate",
"acmg_score": -4,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": 0.0731,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.63,
"chr": "X",
"clinvar_classification": "Likely benign",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.06227186322212219,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 297,
"aa_ref": "G",
"aa_start": 275,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3455,
"cdna_start": 917,
"cds_end": null,
"cds_length": 894,
"cds_start": 823,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_021783.5",
"gene_hgnc_id": 17756,
"gene_symbol": "EDA2R",
"hgvs_c": "c.823G>A",
"hgvs_p": "p.Gly275Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000374719.8",
"protein_coding": true,
"protein_id": "NP_068555.2",
"strand": false,
"transcript": "NM_021783.5",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 297,
"aa_ref": "G",
"aa_start": 275,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3455,
"cdna_start": 917,
"cds_end": null,
"cds_length": 894,
"cds_start": 823,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000374719.8",
"gene_hgnc_id": 17756,
"gene_symbol": "EDA2R",
"hgvs_c": "c.823G>A",
"hgvs_p": "p.Gly275Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_021783.5",
"protein_coding": true,
"protein_id": "ENSP00000363851.3",
"strand": false,
"transcript": "ENST00000374719.8",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 318,
"aa_ref": "G",
"aa_start": 296,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 957,
"cdna_start": 886,
"cds_end": null,
"cds_length": 957,
"cds_start": 886,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000253392.5",
"gene_hgnc_id": 17756,
"gene_symbol": "EDA2R",
"hgvs_c": "c.886G>A",
"hgvs_p": "p.Gly296Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000253392.5",
"strand": false,
"transcript": "ENST00000253392.5",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 318,
"aa_ref": "G",
"aa_start": 296,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3434,
"cdna_start": 896,
"cds_end": null,
"cds_length": 957,
"cds_start": 886,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001242310.1",
"gene_hgnc_id": 17756,
"gene_symbol": "EDA2R",
"hgvs_c": "c.886G>A",
"hgvs_p": "p.Gly296Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001229239.1",
"strand": false,
"transcript": "NM_001242310.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 318,
"aa_ref": "G",
"aa_start": 296,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3429,
"cdna_start": 896,
"cds_end": null,
"cds_length": 957,
"cds_start": 886,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000396050.5",
"gene_hgnc_id": 17756,
"gene_symbol": "EDA2R",
"hgvs_c": "c.886G>A",
"hgvs_p": "p.Gly296Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000379365.2",
"strand": false,
"transcript": "ENST00000396050.5",
"transcript_support_level": 5
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 299,
"aa_ref": "G",
"aa_start": 277,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3461,
"cdna_start": 923,
"cds_end": null,
"cds_length": 900,
"cds_start": 829,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001324206.2",
"gene_hgnc_id": 17756,
"gene_symbol": "EDA2R",
"hgvs_c": "c.829G>A",
"hgvs_p": "p.Gly277Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001311135.2",
"strand": false,
"transcript": "NM_001324206.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 299,
"aa_ref": "G",
"aa_start": 277,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3515,
"cdna_start": 977,
"cds_end": null,
"cds_length": 900,
"cds_start": 829,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000902730.1",
"gene_hgnc_id": 17756,
"gene_symbol": "EDA2R",
"hgvs_c": "c.829G>A",
"hgvs_p": "p.Gly277Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000572789.1",
"strand": false,
"transcript": "ENST00000902730.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 299,
"aa_ref": "G",
"aa_start": 277,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3010,
"cdna_start": 923,
"cds_end": null,
"cds_length": 900,
"cds_start": 829,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000902732.1",
"gene_hgnc_id": 17756,
"gene_symbol": "EDA2R",
"hgvs_c": "c.829G>A",
"hgvs_p": "p.Gly277Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000572791.1",
"strand": false,
"transcript": "ENST00000902732.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 299,
"aa_ref": "G",
"aa_start": 277,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3498,
"cdna_start": 965,
"cds_end": null,
"cds_length": 900,
"cds_start": 829,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000944244.1",
"gene_hgnc_id": 17756,
"gene_symbol": "EDA2R",
"hgvs_c": "c.829G>A",
"hgvs_p": "p.Gly277Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000614303.1",
"strand": false,
"transcript": "ENST00000944244.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 297,
"aa_ref": "G",
"aa_start": 275,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3440,
"cdna_start": 902,
"cds_end": null,
"cds_length": 894,
"cds_start": 823,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001199687.3",
"gene_hgnc_id": 17756,
"gene_symbol": "EDA2R",
"hgvs_c": "c.823G>A",
"hgvs_p": "p.Gly275Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001186616.2",
"strand": false,
"transcript": "NM_001199687.3",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 297,
"aa_ref": "G",
"aa_start": 275,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3464,
"cdna_start": 931,
"cds_end": null,
"cds_length": 894,
"cds_start": 823,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000451436.6",
"gene_hgnc_id": 17756,
"gene_symbol": "EDA2R",
"hgvs_c": "c.823G>A",
"hgvs_p": "p.Gly275Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000415242.3",
"strand": false,
"transcript": "ENST00000451436.6",
"transcript_support_level": 5
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 297,
"aa_ref": "G",
"aa_start": 275,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3483,
"cdna_start": 945,
"cds_end": null,
"cds_length": 894,
"cds_start": 823,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000902731.1",
"gene_hgnc_id": 17756,
"gene_symbol": "EDA2R",
"hgvs_c": "c.823G>A",
"hgvs_p": "p.Gly275Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000572790.1",
"strand": false,
"transcript": "ENST00000902731.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
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"aa_length": 265,
"aa_ref": "G",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3360,
"cdna_start": 822,
"cds_end": null,
"cds_length": 798,
"cds_start": 727,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001324201.2",
"gene_hgnc_id": 17756,
"gene_symbol": "EDA2R",
"hgvs_c": "c.727G>A",
"hgvs_p": "p.Gly243Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001311130.2",
"strand": false,
"transcript": "NM_001324201.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 240,
"aa_ref": "G",
"aa_start": 218,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4512,
"cdna_start": 723,
"cds_end": null,
"cds_length": 723,
"cds_start": 652,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000902729.1",
"gene_hgnc_id": 17756,
"gene_symbol": "EDA2R",
"hgvs_c": "c.652G>A",
"hgvs_p": "p.Gly218Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000572788.1",
"strand": false,
"transcript": "ENST00000902729.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
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"aa_length": 240,
"aa_ref": "G",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3282,
"cdna_start": 751,
"cds_end": null,
"cds_length": 723,
"cds_start": 652,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000944243.1",
"gene_hgnc_id": 17756,
"gene_symbol": "EDA2R",
"hgvs_c": "c.652G>A",
"hgvs_p": "p.Gly218Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000614302.1",
"strand": false,
"transcript": "ENST00000944243.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 238,
"aa_ref": "G",
"aa_start": 216,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4542,
"cdna_start": 751,
"cds_end": null,
"cds_length": 717,
"cds_start": 646,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000902728.1",
"gene_hgnc_id": 17756,
"gene_symbol": "EDA2R",
"hgvs_c": "c.646G>A",
"hgvs_p": "p.Gly216Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000572787.1",
"strand": false,
"transcript": "ENST00000902728.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 238,
"aa_ref": "G",
"aa_start": 216,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4529,
"cdna_start": 740,
"cds_end": null,
"cds_length": 717,
"cds_start": 646,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000925064.1",
"gene_hgnc_id": 17756,
"gene_symbol": "EDA2R",
"hgvs_c": "c.646G>A",
"hgvs_p": "p.Gly216Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000595123.1",
"strand": false,
"transcript": "ENST00000925064.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
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"aa_ref": "G",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3099,
"cdna_start": 561,
"cds_end": null,
"cds_length": 522,
"cds_start": 451,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001324199.2",
"gene_hgnc_id": 17756,
"gene_symbol": "EDA2R",
"hgvs_c": "c.451G>A",
"hgvs_p": "p.Gly151Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001311128.2",
"strand": false,
"transcript": "NM_001324199.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
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"aa_length": 331,
"aa_ref": "G",
"aa_start": 309,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1100,
"cdna_start": 1020,
"cds_end": null,
"cds_length": 996,
"cds_start": 925,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_047442294.1",
"gene_hgnc_id": 17756,
"gene_symbol": "EDA2R",
"hgvs_c": "c.925G>A",
"hgvs_p": "p.Gly309Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047298250.1",
"strand": false,
"transcript": "XM_047442294.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 331,
"aa_ref": "G",
"aa_start": 309,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1115,
"cdna_start": 1035,
"cds_end": null,
"cds_length": 996,
"cds_start": 925,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_047442295.1",
"gene_hgnc_id": 17756,
"gene_symbol": "EDA2R",
"hgvs_c": "c.925G>A",
"hgvs_p": "p.Gly309Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047298251.1",
"strand": false,
"transcript": "XM_047442295.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 318,
"aa_ref": "G",
"aa_start": 296,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1045,
"cdna_start": 965,
"cds_end": null,
"cds_length": 957,
"cds_start": 886,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_011531001.2",
"gene_hgnc_id": 17756,
"gene_symbol": "EDA2R",
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