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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: 16-15036083-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=15036083&ref=C&alt=A&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": "PDXDC1",
"hgnc_id": 28995,
"hgvs_c": "c.2175C>A",
"hgvs_p": "p.His725Gln",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_015027.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 3,
"alphamissense_prediction": null,
"alphamissense_score": 0.1692,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.54,
"chr": "16",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.2189839780330658,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 788,
"aa_ref": "H",
"aa_start": 725,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4598,
"cdna_start": 2349,
"cds_end": null,
"cds_length": 2367,
"cds_start": 2175,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "NM_015027.4",
"gene_hgnc_id": 28995,
"gene_symbol": "PDXDC1",
"hgvs_c": "c.2175C>A",
"hgvs_p": "p.His725Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000396410.9",
"protein_coding": true,
"protein_id": "NP_055842.2",
"strand": true,
"transcript": "NM_015027.4",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 788,
"aa_ref": "H",
"aa_start": 725,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4598,
"cdna_start": 2349,
"cds_end": null,
"cds_length": 2367,
"cds_start": 2175,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000396410.9",
"gene_hgnc_id": 28995,
"gene_symbol": "PDXDC1",
"hgvs_c": "c.2175C>A",
"hgvs_p": "p.His725Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_015027.4",
"protein_coding": true,
"protein_id": "ENSP00000379691.4",
"strand": true,
"transcript": "ENST00000396410.9",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 761,
"aa_ref": "H",
"aa_start": 698,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3775,
"cdna_start": 2171,
"cds_end": null,
"cds_length": 2286,
"cds_start": 2094,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000569715.5",
"gene_hgnc_id": 28995,
"gene_symbol": "PDXDC1",
"hgvs_c": "c.2094C>A",
"hgvs_p": "p.His698Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000455070.1",
"strand": true,
"transcript": "ENST00000569715.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 498,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2048,
"cdna_start": null,
"cds_end": null,
"cds_length": 1497,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000535621.6",
"gene_hgnc_id": 28995,
"gene_symbol": "PDXDC1",
"hgvs_c": "c.1399+6027C>A",
"hgvs_p": null,
"intron_rank": 16,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000437835.2",
"strand": true,
"transcript": "ENST00000535621.6",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 816,
"aa_ref": "H",
"aa_start": 753,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3958,
"cdna_start": 2355,
"cds_end": null,
"cds_length": 2451,
"cds_start": 2259,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000957850.1",
"gene_hgnc_id": 28995,
"gene_symbol": "PDXDC1",
"hgvs_c": "c.2259C>A",
"hgvs_p": "p.His753Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000627909.1",
"strand": true,
"transcript": "ENST00000957850.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 815,
"aa_ref": "H",
"aa_start": 752,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3930,
"cdna_start": 2328,
"cds_end": null,
"cds_length": 2448,
"cds_start": 2256,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000881203.1",
"gene_hgnc_id": 28995,
"gene_symbol": "PDXDC1",
"hgvs_c": "c.2256C>A",
"hgvs_p": "p.His752Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551262.1",
"strand": true,
"transcript": "ENST00000881203.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 810,
"aa_ref": "H",
"aa_start": 747,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3917,
"cdna_start": 2313,
"cds_end": null,
"cds_length": 2433,
"cds_start": 2241,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000881202.1",
"gene_hgnc_id": 28995,
"gene_symbol": "PDXDC1",
"hgvs_c": "c.2241C>A",
"hgvs_p": "p.His747Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551261.1",
"strand": true,
"transcript": "ENST00000881202.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 806,
"aa_ref": "H",
"aa_start": 743,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2963,
"cdna_start": 2368,
"cds_end": null,
"cds_length": 2421,
"cds_start": 2229,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000563679.5",
"gene_hgnc_id": 28995,
"gene_symbol": "PDXDC1",
"hgvs_c": "c.2229C>A",
"hgvs_p": "p.His743Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000454791.1",
"strand": true,
"transcript": "ENST00000563679.5",
"transcript_support_level": 2
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 806,
"aa_ref": "H",
"aa_start": 743,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3949,
"cdna_start": 2340,
"cds_end": null,
"cds_length": 2421,
"cds_start": 2229,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000881199.1",
"gene_hgnc_id": 28995,
"gene_symbol": "PDXDC1",
"hgvs_c": "c.2229C>A",
"hgvs_p": "p.His743Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551258.1",
"strand": true,
"transcript": "ENST00000881199.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 797,
"aa_ref": "H",
"aa_start": 734,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3900,
"cdna_start": 2298,
"cds_end": null,
"cds_length": 2394,
"cds_start": 2202,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000881200.1",
"gene_hgnc_id": 28995,
"gene_symbol": "PDXDC1",
"hgvs_c": "c.2202C>A",
"hgvs_p": "p.His734Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551259.1",
"strand": true,
"transcript": "ENST00000881200.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 787,
"aa_ref": "H",
"aa_start": 724,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4595,
"cdna_start": 2346,
"cds_end": null,
"cds_length": 2364,
"cds_start": 2172,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "NM_001324019.2",
"gene_hgnc_id": 28995,
"gene_symbol": "PDXDC1",
"hgvs_c": "c.2172C>A",
"hgvs_p": "p.His724Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001310948.1",
"strand": true,
"transcript": "NM_001324019.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 787,
"aa_ref": "H",
"aa_start": 724,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3988,
"cdna_start": 2376,
"cds_end": null,
"cds_length": 2364,
"cds_start": 2172,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000881197.1",
"gene_hgnc_id": 28995,
"gene_symbol": "PDXDC1",
"hgvs_c": "c.2172C>A",
"hgvs_p": "p.His724Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551256.1",
"strand": true,
"transcript": "ENST00000881197.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 779,
"aa_ref": "H",
"aa_start": 716,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3883,
"cdna_start": 2271,
"cds_end": null,
"cds_length": 2340,
"cds_start": 2148,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000881198.1",
"gene_hgnc_id": 28995,
"gene_symbol": "PDXDC1",
"hgvs_c": "c.2148C>A",
"hgvs_p": "p.His716Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551257.1",
"strand": true,
"transcript": "ENST00000881198.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 773,
"aa_ref": "H",
"aa_start": 710,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4471,
"cdna_start": 2224,
"cds_end": null,
"cds_length": 2322,
"cds_start": 2130,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "NM_001285447.1",
"gene_hgnc_id": 28995,
"gene_symbol": "PDXDC1",
"hgvs_c": "c.2130C>A",
"hgvs_p": "p.His710Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001272376.1",
"strand": true,
"transcript": "NM_001285447.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 768,
"aa_ref": "H",
"aa_start": 705,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2944,
"cdna_start": 2299,
"cds_end": null,
"cds_length": 2307,
"cds_start": 2115,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000881204.1",
"gene_hgnc_id": 28995,
"gene_symbol": "PDXDC1",
"hgvs_c": "c.2115C>A",
"hgvs_p": "p.His705Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551263.1",
"strand": true,
"transcript": "ENST00000881204.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 761,
"aa_ref": "H",
"aa_start": 698,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4517,
"cdna_start": 2268,
"cds_end": null,
"cds_length": 2286,
"cds_start": 2094,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "NM_001285444.2",
"gene_hgnc_id": 28995,
"gene_symbol": "PDXDC1",
"hgvs_c": "c.2094C>A",
"hgvs_p": "p.His698Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001272373.1",
"strand": true,
"transcript": "NM_001285444.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 760,
"aa_ref": "H",
"aa_start": 697,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4514,
"cdna_start": 2265,
"cds_end": null,
"cds_length": 2283,
"cds_start": 2091,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "NM_001285445.2",
"gene_hgnc_id": 28995,
"gene_symbol": "PDXDC1",
"hgvs_c": "c.2091C>A",
"hgvs_p": "p.His697Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001272374.1",
"strand": true,
"transcript": "NM_001285445.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 760,
"aa_ref": "H",
"aa_start": 697,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2683,
"cdna_start": 2162,
"cds_end": null,
"cds_length": 2283,
"cds_start": 2091,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000627450.2",
"gene_hgnc_id": 28995,
"gene_symbol": "PDXDC1",
"hgvs_c": "c.2091C>A",
"hgvs_p": "p.His697Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000486662.1",
"strand": true,
"transcript": "ENST00000627450.2",
"transcript_support_level": 2
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 759,
"aa_ref": "H",
"aa_start": 696,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3869,
"cdna_start": 2262,
"cds_end": null,
"cds_length": 2280,
"cds_start": 2088,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000940247.1",
"gene_hgnc_id": 28995,
"gene_symbol": "PDXDC1",
"hgvs_c": "c.2088C>A",
"hgvs_p": "p.His696Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000610306.1",
"strand": true,
"transcript": "ENST00000940247.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 752,
"aa_ref": "H",
"aa_start": 689,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3744,
"cdna_start": 2141,
"cds_end": null,
"cds_length": 2259,
"cds_start": 2067,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000957851.1",
"gene_hgnc_id": 28995,
"gene_symbol": "PDXDC1",
"hgvs_c": "c.2067C>A",
"hgvs_p": "p.His689Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000627910.1",
"strand": true,
"transcript": "ENST00000957851.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 739,
"aa_ref": "H",
"aa_start": 676,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3717,
"cdna_start": 2108,
"cds_end": null,
"cds_length": 2220,
"cds_start": 2028,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 22,
"exon_rank_end": null,
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