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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: 12-110381954-G-GAAAAAAAAAAA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=110381954&ref=G&alt=GAAAAAAAAAAA&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"splice_region_variant",
"intron_variant"
],
"gene_symbol": "ANAPC7",
"hgnc_id": 17380,
"hgvs_c": "c.978-17_978-7dupTTTTTTTTTTT",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_001385208.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 147,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "GAAAAAAAAAAA",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "12",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 565,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3023,
"cdna_start": null,
"cds_end": null,
"cds_length": 1698,
"cds_start": null,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_016238.3",
"gene_hgnc_id": 17380,
"gene_symbol": "ANAPC7",
"hgvs_c": "c.936-17_936-7dupTTTTTTTTTTT",
"hgvs_p": null,
"intron_rank": 7,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000455511.9",
"protein_coding": true,
"protein_id": "NP_057322.3",
"strand": false,
"transcript": "NM_016238.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 565,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3023,
"cdna_start": null,
"cds_end": null,
"cds_length": 1698,
"cds_start": null,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000455511.9",
"gene_hgnc_id": 17380,
"gene_symbol": "ANAPC7",
"hgvs_c": "c.936-7_936-6insTTTTTTTTTTT",
"hgvs_p": null,
"intron_rank": 7,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_016238.3",
"protein_coding": true,
"protein_id": "ENSP00000394394.4",
"strand": false,
"transcript": "ENST00000455511.9",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 503,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2200,
"cdna_start": null,
"cds_end": null,
"cds_length": 1512,
"cds_start": null,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000450008.3",
"gene_hgnc_id": 17380,
"gene_symbol": "ANAPC7",
"hgvs_c": "c.936-7_936-6insTTTTTTTTTTT",
"hgvs_p": null,
"intron_rank": 7,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000402314.3",
"strand": false,
"transcript": "ENST00000450008.3",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 930,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000471602.6",
"gene_hgnc_id": 17380,
"gene_symbol": "ANAPC7",
"hgvs_c": "n.424-7_424-6insTTTTTTTTTTT",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000471602.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 599,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2559,
"cdna_start": null,
"cds_end": null,
"cds_length": 1800,
"cds_start": null,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000880053.1",
"gene_hgnc_id": 17380,
"gene_symbol": "ANAPC7",
"hgvs_c": "c.1038-7_1038-6insTTTTTTTTTTT",
"hgvs_p": null,
"intron_rank": 8,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000550112.1",
"strand": false,
"transcript": "ENST00000880053.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 582,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2501,
"cdna_start": null,
"cds_end": null,
"cds_length": 1749,
"cds_start": null,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000961552.1",
"gene_hgnc_id": 17380,
"gene_symbol": "ANAPC7",
"hgvs_c": "c.987-7_987-6insTTTTTTTTTTT",
"hgvs_p": null,
"intron_rank": 8,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000631611.1",
"strand": false,
"transcript": "ENST00000961552.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 579,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3341,
"cdna_start": null,
"cds_end": null,
"cds_length": 1740,
"cds_start": null,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001385208.1",
"gene_hgnc_id": 17380,
"gene_symbol": "ANAPC7",
"hgvs_c": "c.978-17_978-7dupTTTTTTTTTTT",
"hgvs_p": null,
"intron_rank": 7,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372137.1",
"strand": false,
"transcript": "NM_001385208.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 565,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2462,
"cdna_start": null,
"cds_end": null,
"cds_length": 1698,
"cds_start": null,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000961551.1",
"gene_hgnc_id": 17380,
"gene_symbol": "ANAPC7",
"hgvs_c": "c.936-7_936-6insTTTTTTTTTTT",
"hgvs_p": null,
"intron_rank": 7,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000631610.1",
"strand": false,
"transcript": "ENST00000961551.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 562,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2487,
"cdna_start": null,
"cds_end": null,
"cds_length": 1689,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000929444.1",
"gene_hgnc_id": 17380,
"gene_symbol": "ANAPC7",
"hgvs_c": "c.936-16_936-15insTTTTTTTTTTT",
"hgvs_p": null,
"intron_rank": 7,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000599503.1",
"strand": false,
"transcript": "ENST00000929444.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 548,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2978,
"cdna_start": null,
"cds_end": null,
"cds_length": 1647,
"cds_start": null,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000880052.1",
"gene_hgnc_id": 17380,
"gene_symbol": "ANAPC7",
"hgvs_c": "c.885-7_885-6insTTTTTTTTTTT",
"hgvs_p": null,
"intron_rank": 7,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000550111.1",
"strand": false,
"transcript": "ENST00000880052.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 529,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2397,
"cdna_start": null,
"cds_end": null,
"cds_length": 1590,
"cds_start": null,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000929443.1",
"gene_hgnc_id": 17380,
"gene_symbol": "ANAPC7",
"hgvs_c": "c.936-7_936-6insTTTTTTTTTTT",
"hgvs_p": null,
"intron_rank": 7,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000599502.1",
"strand": false,
"transcript": "ENST00000929443.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 503,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2181,
"cdna_start": null,
"cds_end": null,
"cds_length": 1512,
"cds_start": null,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001137664.2",
"gene_hgnc_id": 17380,
"gene_symbol": "ANAPC7",
"hgvs_c": "c.936-17_936-7dupTTTTTTTTTTT",
"hgvs_p": null,
"intron_rank": 7,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001131136.2",
"strand": false,
"transcript": "NM_001137664.2",
"transcript_support_level": null
},
{
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"aa_end": null,
"aa_length": 498,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3827,
"cdna_start": null,
"cds_end": null,
"cds_length": 1497,
"cds_start": null,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001385209.1",
"gene_hgnc_id": 17380,
"gene_symbol": "ANAPC7",
"hgvs_c": "c.735-17_735-7dupTTTTTTTTTTT",
"hgvs_p": null,
"intron_rank": 7,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372138.1",
"strand": false,
"transcript": "NM_001385209.1",
"transcript_support_level": null
},
{
"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": 3438,
"cdna_start": null,
"cds_end": null,
"cds_length": 1497,
"cds_start": null,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001385210.1",
"gene_hgnc_id": 17380,
"gene_symbol": "ANAPC7",
"hgvs_c": "c.735-17_735-7dupTTTTTTTTTTT",
"hgvs_p": null,
"intron_rank": 7,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372139.1",
"strand": false,
"transcript": "NM_001385210.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 490,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2798,
"cdna_start": null,
"cds_end": null,
"cds_length": 1473,
"cds_start": null,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001385211.1",
"gene_hgnc_id": 17380,
"gene_symbol": "ANAPC7",
"hgvs_c": "c.936-17_936-7dupTTTTTTTTTTT",
"hgvs_p": null,
"intron_rank": 7,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372140.1",
"strand": false,
"transcript": "NM_001385211.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 478,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2147,
"cdna_start": null,
"cds_end": null,
"cds_length": 1437,
"cds_start": null,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000929447.1",
"gene_hgnc_id": 17380,
"gene_symbol": "ANAPC7",
"hgvs_c": "c.675-7_675-6insTTTTTTTTTTT",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000599506.1",
"strand": false,
"transcript": "ENST00000929447.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 466,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2120,
"cdna_start": null,
"cds_end": null,
"cds_length": 1401,
"cds_start": null,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000929446.1",
"gene_hgnc_id": 17380,
"gene_symbol": "ANAPC7",
"hgvs_c": "c.639-7_639-6insTTTTTTTTTTT",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000599505.1",
"strand": false,
"transcript": "ENST00000929446.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 460,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2139,
"cdna_start": null,
"cds_end": null,
"cds_length": 1383,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000929445.1",
"gene_hgnc_id": 17380,
"gene_symbol": "ANAPC7",
"hgvs_c": "c.818-4338_818-4337insTTTTTTTTTTT",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000599504.1",
"strand": false,
"transcript": "ENST00000929445.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 442,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2079,
"cdna_start": null,
"cds_end": null,
"cds_length": 1329,
"cds_start": null,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000880054.1",
"gene_hgnc_id": 17380,
"gene_symbol": "ANAPC7",
"hgvs_c": "c.567-7_567-6insTTTTTTTTTTT",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000550113.1",
"strand": false,
"transcript": "ENST00000880054.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 423,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1951,
"cdna_start": null,
"cds_end": null,
"cds_length": 1272,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000961554.1",
"gene_hgnc_id": 17380,
"gene_symbol": "ANAPC7",
"hgvs_c": "c.935+888_935+889insTTTTTTTTTTT",
"hgvs_p": null,
"intron_rank": 7,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000631613.1",
"strand": false,
"transcript": "ENST00000961554.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 378,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2911,
"cdna_start": null,
"cds_end": null,
"cds_length": 1137,
"cds_start": null,
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