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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: 3-146521563-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=146521563&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 146521563,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001406033.1",
"consequences": [
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLSCR1",
"gene_hgnc_id": 9092,
"hgvs_c": "c.719G>T",
"hgvs_p": "p.Cys240Phe",
"transcript": "NM_021105.3",
"protein_id": "NP_066928.1",
"transcript_support_level": null,
"aa_start": 240,
"aa_end": null,
"aa_length": 318,
"cds_start": 719,
"cds_end": null,
"cds_length": 957,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000342435.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_021105.3"
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLSCR1",
"gene_hgnc_id": 9092,
"hgvs_c": "c.719G>T",
"hgvs_p": "p.Cys240Phe",
"transcript": "ENST00000342435.9",
"protein_id": "ENSP00000345494.4",
"transcript_support_level": 1,
"aa_start": 240,
"aa_end": null,
"aa_length": 318,
"cds_start": 719,
"cds_end": null,
"cds_length": 957,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_021105.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000342435.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "PLSCR1",
"gene_hgnc_id": 9092,
"hgvs_c": "n.*11+4042G>T",
"hgvs_p": null,
"transcript": "ENST00000493432.5",
"protein_id": "ENSP00000419680.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000493432.5"
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLSCR1",
"gene_hgnc_id": 9092,
"hgvs_c": "c.755G>T",
"hgvs_p": "p.Cys252Phe",
"transcript": "NM_001406033.1",
"protein_id": "NP_001392962.1",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 330,
"cds_start": 755,
"cds_end": null,
"cds_length": 993,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001406033.1"
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLSCR1",
"gene_hgnc_id": 9092,
"hgvs_c": "c.719G>T",
"hgvs_p": "p.Cys240Phe",
"transcript": "ENST00000967305.1",
"protein_id": "ENSP00000637364.1",
"transcript_support_level": null,
"aa_start": 240,
"aa_end": null,
"aa_length": 323,
"cds_start": 719,
"cds_end": null,
"cds_length": 972,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967305.1"
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLSCR1",
"gene_hgnc_id": 9092,
"hgvs_c": "c.719G>T",
"hgvs_p": "p.Cys240Phe",
"transcript": "NM_001406034.1",
"protein_id": "NP_001392963.1",
"transcript_support_level": null,
"aa_start": 240,
"aa_end": null,
"aa_length": 318,
"cds_start": 719,
"cds_end": null,
"cds_length": 957,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001406034.1"
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLSCR1",
"gene_hgnc_id": 9092,
"hgvs_c": "c.719G>T",
"hgvs_p": "p.Cys240Phe",
"transcript": "NM_001406035.1",
"protein_id": "NP_001392964.1",
"transcript_support_level": null,
"aa_start": 240,
"aa_end": null,
"aa_length": 318,
"cds_start": 719,
"cds_end": null,
"cds_length": 957,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001406035.1"
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLSCR1",
"gene_hgnc_id": 9092,
"hgvs_c": "c.719G>T",
"hgvs_p": "p.Cys240Phe",
"transcript": "ENST00000907639.1",
"protein_id": "ENSP00000577698.1",
"transcript_support_level": null,
"aa_start": 240,
"aa_end": null,
"aa_length": 318,
"cds_start": 719,
"cds_end": null,
"cds_length": 957,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907639.1"
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLSCR1",
"gene_hgnc_id": 9092,
"hgvs_c": "c.719G>T",
"hgvs_p": "p.Cys240Phe",
"transcript": "ENST00000907641.1",
"protein_id": "ENSP00000577700.1",
"transcript_support_level": null,
"aa_start": 240,
"aa_end": null,
"aa_length": 318,
"cds_start": 719,
"cds_end": null,
"cds_length": 957,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907641.1"
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLSCR1",
"gene_hgnc_id": 9092,
"hgvs_c": "c.719G>T",
"hgvs_p": "p.Cys240Phe",
"transcript": "ENST00000907643.1",
"protein_id": "ENSP00000577702.1",
"transcript_support_level": null,
"aa_start": 240,
"aa_end": null,
"aa_length": 318,
"cds_start": 719,
"cds_end": null,
"cds_length": 957,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907643.1"
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLSCR1",
"gene_hgnc_id": 9092,
"hgvs_c": "c.719G>T",
"hgvs_p": "p.Cys240Phe",
"transcript": "ENST00000907644.1",
"protein_id": "ENSP00000577703.1",
"transcript_support_level": null,
"aa_start": 240,
"aa_end": null,
"aa_length": 318,
"cds_start": 719,
"cds_end": null,
"cds_length": 957,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907644.1"
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLSCR1",
"gene_hgnc_id": 9092,
"hgvs_c": "c.719G>T",
"hgvs_p": "p.Cys240Phe",
"transcript": "ENST00000907646.1",
"protein_id": "ENSP00000577705.1",
"transcript_support_level": null,
"aa_start": 240,
"aa_end": null,
"aa_length": 318,
"cds_start": 719,
"cds_end": null,
"cds_length": 957,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907646.1"
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLSCR1",
"gene_hgnc_id": 9092,
"hgvs_c": "c.719G>T",
"hgvs_p": "p.Cys240Phe",
"transcript": "ENST00000907647.1",
"protein_id": "ENSP00000577706.1",
"transcript_support_level": null,
"aa_start": 240,
"aa_end": null,
"aa_length": 318,
"cds_start": 719,
"cds_end": null,
"cds_length": 957,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907647.1"
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLSCR1",
"gene_hgnc_id": 9092,
"hgvs_c": "c.719G>T",
"hgvs_p": "p.Cys240Phe",
"transcript": "ENST00000907649.1",
"protein_id": "ENSP00000577708.1",
"transcript_support_level": null,
"aa_start": 240,
"aa_end": null,
"aa_length": 318,
"cds_start": 719,
"cds_end": null,
"cds_length": 957,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907649.1"
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLSCR1",
"gene_hgnc_id": 9092,
"hgvs_c": "c.719G>T",
"hgvs_p": "p.Cys240Phe",
"transcript": "ENST00000907650.1",
"protein_id": "ENSP00000577709.1",
"transcript_support_level": null,
"aa_start": 240,
"aa_end": null,
"aa_length": 318,
"cds_start": 719,
"cds_end": null,
"cds_length": 957,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907650.1"
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLSCR1",
"gene_hgnc_id": 9092,
"hgvs_c": "c.719G>T",
"hgvs_p": "p.Cys240Phe",
"transcript": "ENST00000907651.1",
"protein_id": "ENSP00000577710.1",
"transcript_support_level": null,
"aa_start": 240,
"aa_end": null,
"aa_length": 318,
"cds_start": 719,
"cds_end": null,
"cds_length": 957,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907651.1"
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLSCR1",
"gene_hgnc_id": 9092,
"hgvs_c": "c.719G>T",
"hgvs_p": "p.Cys240Phe",
"transcript": "ENST00000929308.1",
"protein_id": "ENSP00000599367.1",
"transcript_support_level": null,
"aa_start": 240,
"aa_end": null,
"aa_length": 318,
"cds_start": 719,
"cds_end": null,
"cds_length": 957,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929308.1"
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLSCR1",
"gene_hgnc_id": 9092,
"hgvs_c": "c.719G>T",
"hgvs_p": "p.Cys240Phe",
"transcript": "ENST00000967298.1",
"protein_id": "ENSP00000637357.1",
"transcript_support_level": null,
"aa_start": 240,
"aa_end": null,
"aa_length": 318,
"cds_start": 719,
"cds_end": null,
"cds_length": 957,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967298.1"
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLSCR1",
"gene_hgnc_id": 9092,
"hgvs_c": "c.719G>T",
"hgvs_p": "p.Cys240Phe",
"transcript": "ENST00000967299.1",
"protein_id": "ENSP00000637358.1",
"transcript_support_level": null,
"aa_start": 240,
"aa_end": null,
"aa_length": 318,
"cds_start": 719,
"cds_end": null,
"cds_length": 957,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967299.1"
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLSCR1",
"gene_hgnc_id": 9092,
"hgvs_c": "c.719G>T",
"hgvs_p": "p.Cys240Phe",
"transcript": "ENST00000967303.1",
"protein_id": "ENSP00000637362.1",
"transcript_support_level": null,
"aa_start": 240,
"aa_end": null,
"aa_length": 318,
"cds_start": 719,
"cds_end": null,
"cds_length": 957,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967303.1"
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLSCR1",
"gene_hgnc_id": 9092,
"hgvs_c": "c.719G>T",
"hgvs_p": "p.Cys240Phe",
"transcript": "ENST00000967304.1",
"protein_id": "ENSP00000637363.1",
"transcript_support_level": null,
"aa_start": 240,
"aa_end": null,
"aa_length": 318,
"cds_start": 719,
"cds_end": null,
"cds_length": 957,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967304.1"
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLSCR1",
"gene_hgnc_id": 9092,
"hgvs_c": "c.719G>T",
"hgvs_p": "p.Cys240Phe",
"transcript": "ENST00000967306.1",
"protein_id": "ENSP00000637365.1",
"transcript_support_level": null,
"aa_start": 240,
"aa_end": null,
"aa_length": 318,
"cds_start": 719,
"cds_end": null,
"cds_length": 957,
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"spliceai_max_score": 0.02,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001406033.1",
"gene_symbol": "PLSCR1",
"hgnc_id": 9092,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.755G>T",
"hgvs_p": "p.Cys252Phe"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}