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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: 11-64925831-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=64925831&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 5,
"criteria": [
"BP4",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "PPP2R5B",
"hgnc_id": 9310,
"hgvs_c": "c.97C>T",
"hgvs_p": "p.Arg33Cys",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -5,
"transcript": "NM_006244.4",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4,BS2",
"acmg_score": -5,
"allele_count_reference_population": 65,
"alphamissense_prediction": null,
"alphamissense_score": 0.6307,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.17,
"chr": "11",
"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": 0.35866838693618774,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 497,
"aa_ref": "R",
"aa_start": 33,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2729,
"cdna_start": 701,
"cds_end": null,
"cds_length": 1494,
"cds_start": 97,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_006244.4",
"gene_hgnc_id": 9310,
"gene_symbol": "PPP2R5B",
"hgvs_c": "c.97C>T",
"hgvs_p": "p.Arg33Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000164133.7",
"protein_coding": true,
"protein_id": "NP_006235.1",
"strand": true,
"transcript": "NM_006244.4",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 497,
"aa_ref": "R",
"aa_start": 33,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2729,
"cdna_start": 701,
"cds_end": null,
"cds_length": 1494,
"cds_start": 97,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000164133.7",
"gene_hgnc_id": 9310,
"gene_symbol": "PPP2R5B",
"hgvs_c": "c.97C>T",
"hgvs_p": "p.Arg33Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_006244.4",
"protein_coding": true,
"protein_id": "ENSP00000164133.2",
"strand": true,
"transcript": "ENST00000164133.7",
"transcript_support_level": 1
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 509,
"aa_ref": "R",
"aa_start": 33,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2770,
"cdna_start": 706,
"cds_end": null,
"cds_length": 1530,
"cds_start": 97,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000872729.1",
"gene_hgnc_id": 9310,
"gene_symbol": "PPP2R5B",
"hgvs_c": "c.97C>T",
"hgvs_p": "p.Arg33Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000542788.1",
"strand": true,
"transcript": "ENST00000872729.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 497,
"aa_ref": "R",
"aa_start": 33,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2665,
"cdna_start": 632,
"cds_end": null,
"cds_length": 1494,
"cds_start": 97,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000872717.1",
"gene_hgnc_id": 9310,
"gene_symbol": "PPP2R5B",
"hgvs_c": "c.97C>T",
"hgvs_p": "p.Arg33Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000542776.1",
"strand": true,
"transcript": "ENST00000872717.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 497,
"aa_ref": "R",
"aa_start": 33,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2979,
"cdna_start": 948,
"cds_end": null,
"cds_length": 1494,
"cds_start": 97,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000872718.1",
"gene_hgnc_id": 9310,
"gene_symbol": "PPP2R5B",
"hgvs_c": "c.97C>T",
"hgvs_p": "p.Arg33Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000542777.1",
"strand": true,
"transcript": "ENST00000872718.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 497,
"aa_ref": "R",
"aa_start": 33,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2571,
"cdna_start": 543,
"cds_end": null,
"cds_length": 1494,
"cds_start": 97,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000872719.1",
"gene_hgnc_id": 9310,
"gene_symbol": "PPP2R5B",
"hgvs_c": "c.97C>T",
"hgvs_p": "p.Arg33Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000542778.1",
"strand": true,
"transcript": "ENST00000872719.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 497,
"aa_ref": "R",
"aa_start": 33,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2803,
"cdna_start": 777,
"cds_end": null,
"cds_length": 1494,
"cds_start": 97,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000872720.1",
"gene_hgnc_id": 9310,
"gene_symbol": "PPP2R5B",
"hgvs_c": "c.97C>T",
"hgvs_p": "p.Arg33Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000542779.1",
"strand": true,
"transcript": "ENST00000872720.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 497,
"aa_ref": "R",
"aa_start": 33,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2892,
"cdna_start": 866,
"cds_end": null,
"cds_length": 1494,
"cds_start": 97,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000872721.1",
"gene_hgnc_id": 9310,
"gene_symbol": "PPP2R5B",
"hgvs_c": "c.97C>T",
"hgvs_p": "p.Arg33Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000542780.1",
"strand": true,
"transcript": "ENST00000872721.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 497,
"aa_ref": "R",
"aa_start": 33,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2649,
"cdna_start": 623,
"cds_end": null,
"cds_length": 1494,
"cds_start": 97,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000872722.1",
"gene_hgnc_id": 9310,
"gene_symbol": "PPP2R5B",
"hgvs_c": "c.97C>T",
"hgvs_p": "p.Arg33Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000542781.1",
"strand": true,
"transcript": "ENST00000872722.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 497,
"aa_ref": "R",
"aa_start": 33,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2666,
"cdna_start": 638,
"cds_end": null,
"cds_length": 1494,
"cds_start": 97,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000872723.1",
"gene_hgnc_id": 9310,
"gene_symbol": "PPP2R5B",
"hgvs_c": "c.97C>T",
"hgvs_p": "p.Arg33Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000542782.1",
"strand": true,
"transcript": "ENST00000872723.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 497,
"aa_ref": "R",
"aa_start": 33,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2840,
"cdna_start": 815,
"cds_end": null,
"cds_length": 1494,
"cds_start": 97,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000872724.1",
"gene_hgnc_id": 9310,
"gene_symbol": "PPP2R5B",
"hgvs_c": "c.97C>T",
"hgvs_p": "p.Arg33Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000542783.1",
"strand": true,
"transcript": "ENST00000872724.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 497,
"aa_ref": "R",
"aa_start": 33,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3577,
"cdna_start": 1546,
"cds_end": null,
"cds_length": 1494,
"cds_start": 97,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000872726.1",
"gene_hgnc_id": 9310,
"gene_symbol": "PPP2R5B",
"hgvs_c": "c.97C>T",
"hgvs_p": "p.Arg33Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000542785.1",
"strand": true,
"transcript": "ENST00000872726.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 497,
"aa_ref": "R",
"aa_start": 33,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2731,
"cdna_start": 700,
"cds_end": null,
"cds_length": 1494,
"cds_start": 97,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000872727.1",
"gene_hgnc_id": 9310,
"gene_symbol": "PPP2R5B",
"hgvs_c": "c.97C>T",
"hgvs_p": "p.Arg33Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000542786.1",
"strand": true,
"transcript": "ENST00000872727.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 497,
"aa_ref": "R",
"aa_start": 33,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2641,
"cdna_start": 613,
"cds_end": null,
"cds_length": 1494,
"cds_start": 97,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000872728.1",
"gene_hgnc_id": 9310,
"gene_symbol": "PPP2R5B",
"hgvs_c": "c.97C>T",
"hgvs_p": "p.Arg33Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000542787.1",
"strand": true,
"transcript": "ENST00000872728.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 497,
"aa_ref": "R",
"aa_start": 33,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2575,
"cdna_start": 547,
"cds_end": null,
"cds_length": 1494,
"cds_start": 97,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000921545.1",
"gene_hgnc_id": 9310,
"gene_symbol": "PPP2R5B",
"hgvs_c": "c.97C>T",
"hgvs_p": "p.Arg33Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000591604.1",
"strand": true,
"transcript": "ENST00000921545.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 497,
"aa_ref": "R",
"aa_start": 33,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3085,
"cdna_start": 1056,
"cds_end": null,
"cds_length": 1494,
"cds_start": 97,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000966954.1",
"gene_hgnc_id": 9310,
"gene_symbol": "PPP2R5B",
"hgvs_c": "c.97C>T",
"hgvs_p": "p.Arg33Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000637013.1",
"strand": true,
"transcript": "ENST00000966954.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 497,
"aa_ref": "R",
"aa_start": 33,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2562,
"cdna_start": 536,
"cds_end": null,
"cds_length": 1494,
"cds_start": 97,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000966955.1",
"gene_hgnc_id": 9310,
"gene_symbol": "PPP2R5B",
"hgvs_c": "c.97C>T",
"hgvs_p": "p.Arg33Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000637014.1",
"strand": true,
"transcript": "ENST00000966955.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 497,
"aa_ref": "R",
"aa_start": 33,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2489,
"cdna_start": 463,
"cds_end": null,
"cds_length": 1494,
"cds_start": 97,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000966956.1",
"gene_hgnc_id": 9310,
"gene_symbol": "PPP2R5B",
"hgvs_c": "c.97C>T",
"hgvs_p": "p.Arg33Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000637015.1",
"strand": true,
"transcript": "ENST00000966956.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 497,
"aa_ref": "R",
"aa_start": 33,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2346,
"cdna_start": 326,
"cds_end": null,
"cds_length": 1494,
"cds_start": 97,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000966958.1",
"gene_hgnc_id": 9310,
"gene_symbol": "PPP2R5B",
"hgvs_c": "c.97C>T",
"hgvs_p": "p.Arg33Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000637017.1",
"strand": true,
"transcript": "ENST00000966958.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 477,
"aa_ref": "R",
"aa_start": 33,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2669,
"cdna_start": 701,
"cds_end": null,
"cds_length": 1434,
"cds_start": 97,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000872732.1",
"gene_hgnc_id": 9310,
"gene_symbol": "PPP2R5B",
"hgvs_c": "c.97C>T",
"hgvs_p": "p.Arg33Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000542791.1",
"strand": true,
"transcript": "ENST00000872732.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 466,
"aa_ref": "R",
"aa_start": 33,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2728,
"cdna_start": 792,
"cds_end": null,
"cds_length": 1401,
"cds_start": 97,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000872725.1",
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