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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: 12-27691297-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=27691297&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BA1"
],
"effects": [
"intron_variant"
],
"gene_symbol": "PPFIBP1",
"hgnc_id": 9249,
"hgvs_c": "c.2704-452C>T",
"hgvs_p": null,
"inheritance_mode": "AR,Unknown",
"pathogenic_score": 0,
"score": -12,
"transcript": "NM_177444.3",
"verdict": "Benign"
},
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BA1"
],
"effects": [
"intron_variant"
],
"gene_symbol": "MRPS35-DT",
"hgnc_id": 55490,
"hgvs_c": "n.314-171G>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -12,
"transcript": "ENST00000740393.1",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_score": -12,
"allele_count_reference_population": 98306,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.9,
"chr": "12",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.8999999761581421,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1005,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5983,
"cdna_start": null,
"cds_end": null,
"cds_length": 3018,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 30,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_003622.4",
"gene_hgnc_id": 9249,
"gene_symbol": "PPFIBP1",
"hgvs_c": "c.2686-452C>T",
"hgvs_p": null,
"intron_rank": 27,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000228425.11",
"protein_coding": true,
"protein_id": "NP_003613.4",
"strand": true,
"transcript": "NM_003622.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1005,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5983,
"cdna_start": null,
"cds_end": null,
"cds_length": 3018,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 30,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000228425.11",
"gene_hgnc_id": 9249,
"gene_symbol": "PPFIBP1",
"hgvs_c": "c.2686-452C>T",
"hgvs_p": null,
"intron_rank": 27,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_003622.4",
"protein_coding": true,
"protein_id": "ENSP00000228425.6",
"strand": true,
"transcript": "ENST00000228425.11",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1011,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6001,
"cdna_start": null,
"cds_end": null,
"cds_length": 3036,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 29,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000318304.12",
"gene_hgnc_id": 9249,
"gene_symbol": "PPFIBP1",
"hgvs_c": "c.2704-452C>T",
"hgvs_p": null,
"intron_rank": 26,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000314724.8",
"strand": true,
"transcript": "ENST00000318304.12",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 980,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3208,
"cdna_start": null,
"cds_end": null,
"cds_length": 2943,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 28,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000542629.5",
"gene_hgnc_id": 9249,
"gene_symbol": "PPFIBP1",
"hgvs_c": "c.2611-452C>T",
"hgvs_p": null,
"intron_rank": 25,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000443442.1",
"strand": true,
"transcript": "ENST00000542629.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 858,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5719,
"cdna_start": null,
"cds_end": null,
"cds_length": 2577,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 27,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000537927.5",
"gene_hgnc_id": 9249,
"gene_symbol": "PPFIBP1",
"hgvs_c": "c.2245-452C>T",
"hgvs_p": null,
"intron_rank": 24,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000445425.1",
"strand": true,
"transcript": "ENST00000537927.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
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"aa_length": 1037,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3861,
"cdna_start": null,
"cds_end": null,
"cds_length": 3114,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 31,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000943203.1",
"gene_hgnc_id": 9249,
"gene_symbol": "PPFIBP1",
"hgvs_c": "c.2782-452C>T",
"hgvs_p": null,
"intron_rank": 28,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000613262.1",
"strand": true,
"transcript": "ENST00000943203.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1036,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5157,
"cdna_start": null,
"cds_end": null,
"cds_length": 3111,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 31,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000887725.1",
"gene_hgnc_id": 9249,
"gene_symbol": "PPFIBP1",
"hgvs_c": "c.2779-452C>T",
"hgvs_p": null,
"intron_rank": 28,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000557784.1",
"strand": true,
"transcript": "ENST00000887725.1",
"transcript_support_level": null
},
{
"aa_alt": null,
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"aa_length": 1036,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6141,
"cdna_start": null,
"cds_end": null,
"cds_length": 3111,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 32,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000943192.1",
"gene_hgnc_id": 9249,
"gene_symbol": "PPFIBP1",
"hgvs_c": "c.2779-452C>T",
"hgvs_p": null,
"intron_rank": 29,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000613251.1",
"strand": true,
"transcript": "ENST00000943192.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6067,
"cdna_start": null,
"cds_end": null,
"cds_length": 3105,
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"consequences": [
"intron_variant"
],
"exon_count": 31,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000943196.1",
"gene_hgnc_id": 9249,
"gene_symbol": "PPFIBP1",
"hgvs_c": "c.2773-452C>T",
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000613255.1",
"strand": true,
"transcript": "ENST00000943196.1",
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},
{
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"biotype": "protein_coding",
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"cdna_start": null,
"cds_end": null,
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"consequences": [
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],
"exon_count": 31,
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"feature": "ENST00000887720.1",
"gene_hgnc_id": 9249,
"gene_symbol": "PPFIBP1",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000557779.1",
"strand": true,
"transcript": "ENST00000887720.1",
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},
{
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"consequences": [
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],
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"feature": "ENST00000887729.1",
"gene_hgnc_id": 9249,
"gene_symbol": "PPFIBP1",
"hgvs_c": "c.2770-452C>T",
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"protein_id": "ENSP00000557788.1",
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"transcript": "ENST00000887729.1",
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},
{
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"consequences": [
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],
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"feature": "ENST00000943184.1",
"gene_hgnc_id": 9249,
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},
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"feature": "ENST00000943198.1",
"gene_hgnc_id": 9249,
"gene_symbol": "PPFIBP1",
"hgvs_c": "c.2767-452C>T",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000613257.1",
"strand": true,
"transcript": "ENST00000943198.1",
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},
{
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],
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"feature": "ENST00000943199.1",
"gene_hgnc_id": 9249,
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"hgvs_c": "c.2767-452C>T",
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},
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"consequences": [
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],
"exon_count": 30,
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"feature": "ENST00000943195.1",
"gene_hgnc_id": 9249,
"gene_symbol": "PPFIBP1",
"hgvs_c": "c.2749-452C>T",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000613254.1",
"strand": true,
"transcript": "ENST00000943195.1",
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},
{
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"consequences": [
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],
"exon_count": 30,
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"feature": "ENST00000887718.1",
"gene_hgnc_id": 9249,
"gene_symbol": "PPFIBP1",
"hgvs_c": "c.2746-452C>T",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000557777.1",
"strand": true,
"transcript": "ENST00000887718.1",
"transcript_support_level": null
},
{
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],
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"feature": "ENST00000887722.1",
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},
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"feature": "ENST00000943182.1",
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"protein_coding": true,
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},
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],
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"feature": "ENST00000943183.1",
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"protein_coding": true,
"protein_id": "ENSP00000613242.1",
"strand": true,
"transcript": "ENST00000943183.1",
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},
{
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 31,
"exon_rank": null,
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"feature": "ENST00000943200.1",
"gene_hgnc_id": 9249,
"gene_symbol": "PPFIBP1",
"hgvs_c": "c.2746-452C>T",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000613259.1",
"strand": true,
"transcript": "ENST00000943200.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cds_start": null,
"consequences": [
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],
"exon_count": 30,
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