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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: 19-35872580-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=35872580&ref=C&alt=G&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": "APLP1",
"hgnc_id": 597,
"hgvs_c": "c.948C>G",
"hgvs_p": "p.Asp316Glu",
"inheritance_mode": "AD",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_001024807.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": 0.5192,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.54,
"chr": "19",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.11424747109413147,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 651,
"aa_ref": "D",
"aa_start": 316,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2370,
"cdna_start": 1011,
"cds_end": null,
"cds_length": 1956,
"cds_start": 948,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001024807.3",
"gene_hgnc_id": 597,
"gene_symbol": "APLP1",
"hgvs_c": "c.948C>G",
"hgvs_p": "p.Asp316Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000221891.9",
"protein_coding": true,
"protein_id": "NP_001019978.1",
"strand": true,
"transcript": "NM_001024807.3",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 651,
"aa_ref": "D",
"aa_start": 316,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2370,
"cdna_start": 1011,
"cds_end": null,
"cds_length": 1956,
"cds_start": 948,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000221891.9",
"gene_hgnc_id": 597,
"gene_symbol": "APLP1",
"hgvs_c": "c.948C>G",
"hgvs_p": "p.Asp316Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001024807.3",
"protein_coding": true,
"protein_id": "ENSP00000221891.4",
"strand": true,
"transcript": "ENST00000221891.9",
"transcript_support_level": 1
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 673,
"aa_ref": "D",
"aa_start": 316,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2501,
"cdna_start": 1072,
"cds_end": null,
"cds_length": 2022,
"cds_start": 948,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000960045.1",
"gene_hgnc_id": 597,
"gene_symbol": "APLP1",
"hgvs_c": "c.948C>G",
"hgvs_p": "p.Asp316Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630104.1",
"strand": true,
"transcript": "ENST00000960045.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 655,
"aa_ref": "D",
"aa_start": 316,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2432,
"cdna_start": 1061,
"cds_end": null,
"cds_length": 1968,
"cds_start": 948,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000898023.1",
"gene_hgnc_id": 597,
"gene_symbol": "APLP1",
"hgvs_c": "c.948C>G",
"hgvs_p": "p.Asp316Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568082.1",
"strand": true,
"transcript": "ENST00000898023.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 654,
"aa_ref": "D",
"aa_start": 316,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2420,
"cdna_start": 1047,
"cds_end": null,
"cds_length": 1965,
"cds_start": 948,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000898026.1",
"gene_hgnc_id": 597,
"gene_symbol": "APLP1",
"hgvs_c": "c.948C>G",
"hgvs_p": "p.Asp316Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568085.1",
"strand": true,
"transcript": "ENST00000898026.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 650,
"aa_ref": "D",
"aa_start": 316,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2367,
"cdna_start": 1011,
"cds_end": null,
"cds_length": 1953,
"cds_start": 948,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_005166.5",
"gene_hgnc_id": 597,
"gene_symbol": "APLP1",
"hgvs_c": "c.948C>G",
"hgvs_p": "p.Asp316Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_005157.1",
"strand": true,
"transcript": "NM_005166.5",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 650,
"aa_ref": "D",
"aa_start": 316,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2356,
"cdna_start": 989,
"cds_end": null,
"cds_length": 1953,
"cds_start": 948,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000652533.2",
"gene_hgnc_id": 597,
"gene_symbol": "APLP1",
"hgvs_c": "c.948C>G",
"hgvs_p": "p.Asp316Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000498366.1",
"strand": true,
"transcript": "ENST00000652533.2",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 648,
"aa_ref": "D",
"aa_start": 316,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2413,
"cdna_start": 1055,
"cds_end": null,
"cds_length": 1947,
"cds_start": 948,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000898022.1",
"gene_hgnc_id": 597,
"gene_symbol": "APLP1",
"hgvs_c": "c.948C>G",
"hgvs_p": "p.Asp316Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568081.1",
"strand": true,
"transcript": "ENST00000898022.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 648,
"aa_ref": "D",
"aa_start": 316,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2359,
"cdna_start": 1009,
"cds_end": null,
"cds_length": 1947,
"cds_start": 948,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000898029.1",
"gene_hgnc_id": 597,
"gene_symbol": "APLP1",
"hgvs_c": "c.948C>G",
"hgvs_p": "p.Asp316Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568088.1",
"strand": true,
"transcript": "ENST00000898029.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 647,
"aa_ref": "D",
"aa_start": 316,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2424,
"cdna_start": 1066,
"cds_end": null,
"cds_length": 1944,
"cds_start": 948,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000898020.1",
"gene_hgnc_id": 597,
"gene_symbol": "APLP1",
"hgvs_c": "c.948C>G",
"hgvs_p": "p.Asp316Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568079.1",
"strand": true,
"transcript": "ENST00000898020.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 647,
"aa_ref": "D",
"aa_start": 316,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2354,
"cdna_start": 1009,
"cds_end": null,
"cds_length": 1944,
"cds_start": 948,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000898034.1",
"gene_hgnc_id": 597,
"gene_symbol": "APLP1",
"hgvs_c": "c.948C>G",
"hgvs_p": "p.Asp316Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568093.1",
"strand": true,
"transcript": "ENST00000898034.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 646,
"aa_ref": "D",
"aa_start": 316,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2394,
"cdna_start": 1047,
"cds_end": null,
"cds_length": 1941,
"cds_start": 948,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000912740.1",
"gene_hgnc_id": 597,
"gene_symbol": "APLP1",
"hgvs_c": "c.948C>G",
"hgvs_p": "p.Asp316Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000582799.1",
"strand": true,
"transcript": "ENST00000912740.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 644,
"aa_ref": "D",
"aa_start": 310,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2052,
"cdna_start": 995,
"cds_end": null,
"cds_length": 1935,
"cds_start": 930,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000586861.5",
"gene_hgnc_id": 597,
"gene_symbol": "APLP1",
"hgvs_c": "c.930C>G",
"hgvs_p": "p.Asp310Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000465694.1",
"strand": true,
"transcript": "ENST00000586861.5",
"transcript_support_level": 2
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 639,
"aa_ref": "D",
"aa_start": 316,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2332,
"cdna_start": 1009,
"cds_end": null,
"cds_length": 1920,
"cds_start": 948,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000898030.1",
"gene_hgnc_id": 597,
"gene_symbol": "APLP1",
"hgvs_c": "c.948C>G",
"hgvs_p": "p.Asp316Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568089.1",
"strand": true,
"transcript": "ENST00000898030.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 638,
"aa_ref": "D",
"aa_start": 304,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2329,
"cdna_start": 973,
"cds_end": null,
"cds_length": 1917,
"cds_start": 912,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000898032.1",
"gene_hgnc_id": 597,
"gene_symbol": "APLP1",
"hgvs_c": "c.912C>G",
"hgvs_p": "p.Asp304Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568091.1",
"strand": true,
"transcript": "ENST00000898032.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 637,
"aa_ref": "D",
"aa_start": 316,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2311,
"cdna_start": 995,
"cds_end": null,
"cds_length": 1914,
"cds_start": 948,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000960049.1",
"gene_hgnc_id": 597,
"gene_symbol": "APLP1",
"hgvs_c": "c.948C>G",
"hgvs_p": "p.Asp316Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630108.1",
"strand": true,
"transcript": "ENST00000960049.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 632,
"aa_ref": "D",
"aa_start": 298,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2311,
"cdna_start": 955,
"cds_end": null,
"cds_length": 1899,
"cds_start": 894,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000898033.1",
"gene_hgnc_id": 597,
"gene_symbol": "APLP1",
"hgvs_c": "c.894C>G",
"hgvs_p": "p.Asp298Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568092.1",
"strand": true,
"transcript": "ENST00000898033.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 630,
"aa_ref": "D",
"aa_start": 316,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2306,
"cdna_start": 1009,
"cds_end": null,
"cds_length": 1893,
"cds_start": 948,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000898028.1",
"gene_hgnc_id": 597,
"gene_symbol": "APLP1",
"hgvs_c": "c.948C>G",
"hgvs_p": "p.Asp316Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568087.1",
"strand": true,
"transcript": "ENST00000898028.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 629,
"aa_ref": "D",
"aa_start": 316,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2352,
"cdna_start": 1056,
"cds_end": null,
"cds_length": 1890,
"cds_start": 948,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000898024.1",
"gene_hgnc_id": 597,
"gene_symbol": "APLP1",
"hgvs_c": "c.948C>G",
"hgvs_p": "p.Asp316Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568083.1",
"strand": true,
"transcript": "ENST00000898024.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 614,
"aa_ref": "D",
"aa_start": 316,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2257,
"cdna_start": 1009,
"cds_end": null,
"cds_length": 1845,
"cds_start": 948,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000898031.1",
"gene_hgnc_id": 597,
"gene_symbol": "APLP1",
"hgvs_c": "c.948C>G",
"hgvs_p": "p.Asp316Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568090.1",
"strand": true,
"transcript": "ENST00000898031.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 611,
"aa_ref": "D",
"aa_start": 277,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2266,
"cdna_start": 1176,
"cds_end": null,
"cds_length": 1836,
"cds_start": 831,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000537454.6",
"gene_hgnc_id": 597,
"gene_symbol": "APLP1",
"hgvs_c": "c.831C>G",
"hgvs_p": "p.Asp277Glu",
"intron_rank": null,
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