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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: 12-123091195-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=123091195&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"intron_variant"
],
"gene_symbol": "PITPNM2",
"hgnc_id": 21044,
"hgvs_c": "c.-96+14160T>G",
"hgvs_p": null,
"inheritance_mode": "AD",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_001384660.1",
"verdict": "Likely_benign"
},
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "ENSG00000280381",
"hgnc_id": null,
"hgvs_c": "n.1627T>G",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": -2,
"transcript": "ENST00000624878.1",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_score": -2,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "C",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.91,
"chr": "12",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.9100000262260437,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1349,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7134,
"cdna_start": null,
"cds_end": null,
"cds_length": 4050,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 26,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_020845.3",
"gene_hgnc_id": 21044,
"gene_symbol": "PITPNM2",
"hgvs_c": "c.-96+19190T>G",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000320201.10",
"protein_coding": true,
"protein_id": "NP_065896.1",
"strand": false,
"transcript": "NM_020845.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1349,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 7134,
"cdna_start": null,
"cds_end": null,
"cds_length": 4050,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 26,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000320201.10",
"gene_hgnc_id": 21044,
"gene_symbol": "PITPNM2",
"hgvs_c": "c.-96+19190T>G",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_020845.3",
"protein_coding": true,
"protein_id": "ENSP00000322218.4",
"strand": false,
"transcript": "ENST00000320201.10",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1639,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000451868.2",
"gene_hgnc_id": 21044,
"gene_symbol": "PITPNM2",
"hgvs_c": "n.145+14160T>G",
"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": "ENST00000451868.2",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1408,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7031,
"cdna_start": null,
"cds_end": null,
"cds_length": 4227,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 26,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001384660.1",
"gene_hgnc_id": 21044,
"gene_symbol": "PITPNM2",
"hgvs_c": "c.-96+14160T>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001371589.1",
"strand": false,
"transcript": "NM_001384660.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1349,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6837,
"cdna_start": null,
"cds_end": null,
"cds_length": 4050,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000876870.1",
"gene_hgnc_id": 21044,
"gene_symbol": "PITPNM2",
"hgvs_c": "c.-96+14160T>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000546929.1",
"strand": false,
"transcript": "ENST00000876870.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1343,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7116,
"cdna_start": null,
"cds_end": null,
"cds_length": 4032,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 26,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001300801.2",
"gene_hgnc_id": 21044,
"gene_symbol": "PITPNM2",
"hgvs_c": "c.-96+19190T>G",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001287730.1",
"strand": false,
"transcript": "NM_001300801.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1343,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7152,
"cdna_start": null,
"cds_end": null,
"cds_length": 4032,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 26,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001384668.1",
"gene_hgnc_id": 21044,
"gene_symbol": "PITPNM2",
"hgvs_c": "c.-96+19190T>G",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001371597.1",
"strand": false,
"transcript": "NM_001384668.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1343,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6785,
"cdna_start": null,
"cds_end": null,
"cds_length": 4032,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000280562.9",
"gene_hgnc_id": 21044,
"gene_symbol": "PITPNM2",
"hgvs_c": "c.-96+19190T>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000280562.5",
"strand": false,
"transcript": "ENST00000280562.9",
"transcript_support_level": 5
},
{
"aa_alt": null,
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"aa_length": 1332,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6809,
"cdna_start": null,
"cds_end": null,
"cds_length": 3999,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000876869.1",
"gene_hgnc_id": 21044,
"gene_symbol": "PITPNM2",
"hgvs_c": "c.-96+14160T>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000546928.1",
"strand": false,
"transcript": "ENST00000876869.1",
"transcript_support_level": null
},
{
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"aa_length": 1295,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6972,
"cdna_start": null,
"cds_end": null,
"cds_length": 3888,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001384661.1",
"gene_hgnc_id": 21044,
"gene_symbol": "PITPNM2",
"hgvs_c": "c.-96+19190T>G",
"hgvs_p": null,
"intron_rank": 2,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001371590.1",
"strand": false,
"transcript": "NM_001384661.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 7008,
"cdna_start": null,
"cds_end": null,
"cds_length": 3888,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 25,
"exon_rank": null,
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"feature": "NM_001384663.1",
"gene_hgnc_id": 21044,
"gene_symbol": "PITPNM2",
"hgvs_c": "c.-96+19190T>G",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001371592.1",
"strand": false,
"transcript": "NM_001384663.1",
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},
{
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"biotype": "protein_coding",
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"cdna_start": null,
"cds_end": null,
"cds_length": 3888,
"cds_start": null,
"consequences": [
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],
"exon_count": 24,
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"feature": "ENST00000876871.1",
"gene_hgnc_id": 21044,
"gene_symbol": "PITPNM2",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000546930.1",
"strand": false,
"transcript": "ENST00000876871.1",
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},
{
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"consequences": [
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],
"exon_count": 25,
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"feature": "ENST00000931311.1",
"gene_hgnc_id": 21044,
"gene_symbol": "PITPNM2",
"hgvs_c": "c.-96+19190T>G",
"hgvs_p": null,
"intron_rank": 2,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000601370.1",
"strand": false,
"transcript": "ENST00000931311.1",
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},
{
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],
"exon_count": 24,
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"feature": "NM_001384662.1",
"gene_hgnc_id": 21044,
"gene_symbol": "PITPNM2",
"hgvs_c": "c.-96+14160T>G",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001371591.1",
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},
{
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"consequences": [
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],
"exon_count": 25,
"exon_rank": null,
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"feature": "ENST00000876868.1",
"gene_hgnc_id": 21044,
"gene_symbol": "PITPNM2",
"hgvs_c": "c.-96+19190T>G",
"hgvs_p": null,
"intron_rank": 2,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000546927.1",
"strand": false,
"transcript": "ENST00000876868.1",
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},
{
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"cds_start": null,
"consequences": [
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],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001384664.1",
"gene_hgnc_id": 21044,
"gene_symbol": "PITPNM2",
"hgvs_c": "c.-96+19190T>G",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001371593.1",
"strand": false,
"transcript": "NM_001384664.1",
"transcript_support_level": null
},
{
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"consequences": [
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],
"exon_count": 10,
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"feature": "NM_001384665.1",
"gene_hgnc_id": 21044,
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"hgvs_c": "c.-96+14160T>G",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001371594.1",
"strand": false,
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},
{
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"consequences": [
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],
"exon_count": 11,
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"feature": "NM_001384666.1",
"gene_hgnc_id": 21044,
"gene_symbol": "PITPNM2",
"hgvs_c": "c.-96+19190T>G",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001371595.1",
"strand": false,
"transcript": "NM_001384666.1",
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},
{
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"consequences": [
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],
"exon_count": 11,
"exon_rank": null,
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"feature": "NM_001384667.1",
"gene_hgnc_id": 21044,
"gene_symbol": "PITPNM2",
"hgvs_c": "c.-96+19190T>G",
"hgvs_p": null,
"intron_rank": 2,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001371596.1",
"strand": false,
"transcript": "NM_001384667.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
"cds_length": 125,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000542210.1",
"gene_hgnc_id": 21044,
"gene_symbol": "PITPNM2",
"hgvs_c": "c.-96+19190T>G",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000437869.1",
"strand": false,
"transcript": "ENST00000542210.1",
"transcript_support_level": 4
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7112,
"cdna_start": null,
"cds_end": null,
"cds_length": 4308,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 26,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_024449099.2",
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