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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: 7-900538-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=900538&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ADAP1",
"hgnc_id": 16486,
"hgvs_c": "c.760G>A",
"hgvs_p": "p.Ala254Thr",
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_001284308.2",
"verdict": "Uncertain_significance"
},
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "COX19",
"hgnc_id": 28074,
"hgvs_c": "n.*470G>A",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "ENST00000457254.5",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 37,
"alphamissense_prediction": null,
"alphamissense_score": 0.0691,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.54,
"chr": "7",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.09189087152481079,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 374,
"aa_ref": "A",
"aa_start": 243,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2349,
"cdna_start": 930,
"cds_end": null,
"cds_length": 1125,
"cds_start": 727,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_006869.4",
"gene_hgnc_id": 16486,
"gene_symbol": "ADAP1",
"hgvs_c": "c.727G>A",
"hgvs_p": "p.Ala243Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000265846.10",
"protein_coding": true,
"protein_id": "NP_006860.2",
"strand": false,
"transcript": "NM_006869.4",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 374,
"aa_ref": "A",
"aa_start": 243,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2349,
"cdna_start": 930,
"cds_end": null,
"cds_length": 1125,
"cds_start": 727,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000265846.10",
"gene_hgnc_id": 16486,
"gene_symbol": "ADAP1",
"hgvs_c": "c.727G>A",
"hgvs_p": "p.Ala243Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_006869.4",
"protein_coding": true,
"protein_id": "ENSP00000265846.5",
"strand": false,
"transcript": "ENST00000265846.10",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 385,
"aa_ref": "A",
"aa_start": 254,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2179,
"cdna_start": 760,
"cds_end": null,
"cds_length": 1158,
"cds_start": 760,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001284308.2",
"gene_hgnc_id": 16486,
"gene_symbol": "ADAP1",
"hgvs_c": "c.760G>A",
"hgvs_p": "p.Ala254Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001271237.2",
"strand": false,
"transcript": "NM_001284308.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 385,
"aa_ref": "A",
"aa_start": 254,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2178,
"cdna_start": 760,
"cds_end": null,
"cds_length": 1158,
"cds_start": 760,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000539900.5",
"gene_hgnc_id": 16486,
"gene_symbol": "ADAP1",
"hgvs_c": "c.760G>A",
"hgvs_p": "p.Ala254Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000442682.1",
"strand": false,
"transcript": "ENST00000539900.5",
"transcript_support_level": 2
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 380,
"aa_ref": "A",
"aa_start": 243,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2354,
"cdna_start": 920,
"cds_end": null,
"cds_length": 1143,
"cds_start": 727,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000943017.1",
"gene_hgnc_id": 16486,
"gene_symbol": "ADAP1",
"hgvs_c": "c.727G>A",
"hgvs_p": "p.Ala243Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000613076.1",
"strand": false,
"transcript": "ENST00000943017.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 380,
"aa_ref": "A",
"aa_start": 243,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2326,
"cdna_start": 892,
"cds_end": null,
"cds_length": 1143,
"cds_start": 727,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000943018.1",
"gene_hgnc_id": 16486,
"gene_symbol": "ADAP1",
"hgvs_c": "c.727G>A",
"hgvs_p": "p.Ala243Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000613077.1",
"strand": false,
"transcript": "ENST00000943018.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 373,
"aa_ref": "A",
"aa_start": 242,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2360,
"cdna_start": 944,
"cds_end": null,
"cds_length": 1122,
"cds_start": 724,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000649206.1",
"gene_hgnc_id": 16486,
"gene_symbol": "ADAP1",
"hgvs_c": "c.724G>A",
"hgvs_p": "p.Ala242Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000497220.1",
"strand": false,
"transcript": "ENST00000649206.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 356,
"aa_ref": "A",
"aa_start": 225,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2085,
"cdna_start": 675,
"cds_end": null,
"cds_length": 1071,
"cds_start": 673,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000446141.5",
"gene_hgnc_id": 16486,
"gene_symbol": "ADAP1",
"hgvs_c": "c.673G>A",
"hgvs_p": "p.Ala225Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000414436.1",
"strand": false,
"transcript": "ENST00000446141.5",
"transcript_support_level": 2
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 356,
"aa_ref": "A",
"aa_start": 225,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2293,
"cdna_start": 878,
"cds_end": null,
"cds_length": 1071,
"cds_start": 673,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000943015.1",
"gene_hgnc_id": 16486,
"gene_symbol": "ADAP1",
"hgvs_c": "c.673G>A",
"hgvs_p": "p.Ala225Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000613074.1",
"strand": false,
"transcript": "ENST00000943015.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 356,
"aa_ref": "A",
"aa_start": 225,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2287,
"cdna_start": 869,
"cds_end": null,
"cds_length": 1071,
"cds_start": 673,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000943016.1",
"gene_hgnc_id": 16486,
"gene_symbol": "ADAP1",
"hgvs_c": "c.673G>A",
"hgvs_p": "p.Ala225Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000613075.1",
"strand": false,
"transcript": "ENST00000943016.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 353,
"aa_ref": "A",
"aa_start": 243,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2296,
"cdna_start": 945,
"cds_end": null,
"cds_length": 1062,
"cds_start": 727,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000943014.1",
"gene_hgnc_id": 16486,
"gene_symbol": "ADAP1",
"hgvs_c": "c.727G>A",
"hgvs_p": "p.Ala243Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000613073.1",
"strand": false,
"transcript": "ENST00000943014.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 302,
"aa_ref": "A",
"aa_start": 171,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2119,
"cdna_start": 700,
"cds_end": null,
"cds_length": 909,
"cds_start": 511,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001284309.2",
"gene_hgnc_id": 16486,
"gene_symbol": "ADAP1",
"hgvs_c": "c.511G>A",
"hgvs_p": "p.Ala171Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001271238.2",
"strand": false,
"transcript": "NM_001284309.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 302,
"aa_ref": "A",
"aa_start": 171,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2374,
"cdna_start": 955,
"cds_end": null,
"cds_length": 909,
"cds_start": 511,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001284310.2",
"gene_hgnc_id": 16486,
"gene_symbol": "ADAP1",
"hgvs_c": "c.511G>A",
"hgvs_p": "p.Ala171Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001271239.2",
"strand": false,
"transcript": "NM_001284310.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 302,
"aa_ref": "A",
"aa_start": 171,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2093,
"cdna_start": 675,
"cds_end": null,
"cds_length": 909,
"cds_start": 511,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000449296.6",
"gene_hgnc_id": 16486,
"gene_symbol": "ADAP1",
"hgvs_c": "c.511G>A",
"hgvs_p": "p.Ala171Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000407267.2",
"strand": false,
"transcript": "ENST00000449296.6",
"transcript_support_level": 2
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 302,
"aa_ref": "A",
"aa_start": 171,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2118,
"cdna_start": 700,
"cds_end": null,
"cds_length": 909,
"cds_start": 511,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000611167.4",
"gene_hgnc_id": 16486,
"gene_symbol": "ADAP1",
"hgvs_c": "c.511G>A",
"hgvs_p": "p.Ala171Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000481154.1",
"strand": false,
"transcript": "ENST00000611167.4",
"transcript_support_level": 5
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 279,
"aa_ref": "A",
"aa_start": 148,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1935,
"cdna_start": 516,
"cds_end": null,
"cds_length": 840,
"cds_start": 442,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001284311.2",
"gene_hgnc_id": 16486,
"gene_symbol": "ADAP1",
"hgvs_c": "c.442G>A",
"hgvs_p": "p.Ala148Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001271240.2",
"strand": false,
"transcript": "NM_001284311.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 279,
"aa_ref": "A",
"aa_start": 148,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1946,
"cdna_start": 528,
"cds_end": null,
"cds_length": 840,
"cds_start": 442,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000617043.4",
"gene_hgnc_id": 16486,
"gene_symbol": "ADAP1",
"hgvs_c": "c.442G>A",
"hgvs_p": "p.Ala148Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000478011.1",
"strand": false,
"transcript": "ENST00000617043.4",
"transcript_support_level": 2
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 272,
"aa_ref": "A",
"aa_start": 141,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1919,
"cdna_start": 505,
"cds_end": null,
"cds_length": 819,
"cds_start": 421,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000876359.1",
"gene_hgnc_id": 16486,
"gene_symbol": "ADAP1",
"hgvs_c": "c.421G>A",
"hgvs_p": "p.Ala141Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000546418.1",
"strand": false,
"transcript": "ENST00000876359.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 245,
"aa_ref": "A",
"aa_start": 114,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 742,
"cdna_start": 340,
"cds_end": null,
"cds_length": 738,
"cds_start": 340,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000453175.6",
"gene_hgnc_id": 16486,
"gene_symbol": "ADAP1",
"hgvs_c": "c.340G>A",
"hgvs_p": "p.Ala114Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000409129.2",
"strand": false,
"transcript": "ENST00000453175.6",
"transcript_support_level": 5
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 205,
"aa_ref": "A",
"aa_start": 176,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 622,
"cdna_start": 528,
"cds_end": null,
"cds_length": 620,
"cds_start": 526,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000437486.5",
"gene_hgnc_id": 16486,
"gene_symbol": "ADAP1",
"hgvs_c": "c.526G>A",
"hgvs_p": "p.Ala176Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000404217.1",
"strand": false,
"transcript": "ENST00000437486.5",
"transcript_support_level": 5
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 190,
"aa_ref": "A",
"aa_start": 183,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 576,
"cdna_start": 548,
"cds_end": null,
"cds_length": 575,
"cds_start": 547,
"consequences": [
"missense_variant"
],
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}