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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: 1-20086130-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=20086130&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "PLA2G5",
"hgnc_id": 9038,
"hgvs_c": "c.88G>A",
"hgvs_p": "p.Glu30Lys",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_000929.3",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_score": -2,
"allele_count_reference_population": 26,
"alphamissense_prediction": "Benign",
"alphamissense_score": 0.1632,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.56,
"chr": "1",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not provided",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.05593591928482056,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 138,
"aa_ref": "E",
"aa_start": 30,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1918,
"cdna_start": 370,
"cds_end": null,
"cds_length": 417,
"cds_start": 88,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_000929.3",
"gene_hgnc_id": 9038,
"gene_symbol": "PLA2G5",
"hgvs_c": "c.88G>A",
"hgvs_p": "p.Glu30Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000375108.4",
"protein_coding": true,
"protein_id": "NP_000920.1",
"strand": true,
"transcript": "NM_000929.3",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 138,
"aa_ref": "E",
"aa_start": 30,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1918,
"cdna_start": 370,
"cds_end": null,
"cds_length": 417,
"cds_start": 88,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000375108.4",
"gene_hgnc_id": 9038,
"gene_symbol": "PLA2G5",
"hgvs_c": "c.88G>A",
"hgvs_p": "p.Glu30Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000929.3",
"protein_coding": true,
"protein_id": "ENSP00000364249.3",
"strand": true,
"transcript": "ENST00000375108.4",
"transcript_support_level": 1
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 138,
"aa_ref": "E",
"aa_start": 30,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2367,
"cdna_start": 819,
"cds_end": null,
"cds_length": 417,
"cds_start": 88,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000894073.1",
"gene_hgnc_id": 9038,
"gene_symbol": "PLA2G5",
"hgvs_c": "c.88G>A",
"hgvs_p": "p.Glu30Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564132.1",
"strand": true,
"transcript": "ENST00000894073.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 138,
"aa_ref": "E",
"aa_start": 30,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2487,
"cdna_start": 946,
"cds_end": null,
"cds_length": 417,
"cds_start": 88,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000894074.1",
"gene_hgnc_id": 9038,
"gene_symbol": "PLA2G5",
"hgvs_c": "c.88G>A",
"hgvs_p": "p.Glu30Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564133.1",
"strand": true,
"transcript": "ENST00000894074.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 138,
"aa_ref": "E",
"aa_start": 30,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2513,
"cdna_start": 965,
"cds_end": null,
"cds_length": 417,
"cds_start": 88,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000894075.1",
"gene_hgnc_id": 9038,
"gene_symbol": "PLA2G5",
"hgvs_c": "c.88G>A",
"hgvs_p": "p.Glu30Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564134.1",
"strand": true,
"transcript": "ENST00000894075.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 138,
"aa_ref": "E",
"aa_start": 30,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2388,
"cdna_start": 847,
"cds_end": null,
"cds_length": 417,
"cds_start": 88,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000894076.1",
"gene_hgnc_id": 9038,
"gene_symbol": "PLA2G5",
"hgvs_c": "c.88G>A",
"hgvs_p": "p.Glu30Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564135.1",
"strand": true,
"transcript": "ENST00000894076.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 138,
"aa_ref": "E",
"aa_start": 30,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2586,
"cdna_start": 1047,
"cds_end": null,
"cds_length": 417,
"cds_start": 88,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000894077.1",
"gene_hgnc_id": 9038,
"gene_symbol": "PLA2G5",
"hgvs_c": "c.88G>A",
"hgvs_p": "p.Glu30Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564136.1",
"strand": true,
"transcript": "ENST00000894077.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 138,
"aa_ref": "E",
"aa_start": 30,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1353,
"cdna_start": 532,
"cds_end": null,
"cds_length": 417,
"cds_start": 88,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000894078.1",
"gene_hgnc_id": 9038,
"gene_symbol": "PLA2G5",
"hgvs_c": "c.88G>A",
"hgvs_p": "p.Glu30Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564137.1",
"strand": true,
"transcript": "ENST00000894078.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 138,
"aa_ref": "E",
"aa_start": 30,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1292,
"cdna_start": 469,
"cds_end": null,
"cds_length": 417,
"cds_start": 88,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000894079.1",
"gene_hgnc_id": 9038,
"gene_symbol": "PLA2G5",
"hgvs_c": "c.88G>A",
"hgvs_p": "p.Glu30Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564138.1",
"strand": true,
"transcript": "ENST00000894079.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 138,
"aa_ref": "E",
"aa_start": 30,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1519,
"cdna_start": 693,
"cds_end": null,
"cds_length": 417,
"cds_start": 88,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000894080.1",
"gene_hgnc_id": 9038,
"gene_symbol": "PLA2G5",
"hgvs_c": "c.88G>A",
"hgvs_p": "p.Glu30Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564139.1",
"strand": true,
"transcript": "ENST00000894080.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 138,
"aa_ref": "E",
"aa_start": 30,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1632,
"cdna_start": 812,
"cds_end": null,
"cds_length": 417,
"cds_start": 88,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000894081.1",
"gene_hgnc_id": 9038,
"gene_symbol": "PLA2G5",
"hgvs_c": "c.88G>A",
"hgvs_p": "p.Glu30Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564140.1",
"strand": true,
"transcript": "ENST00000894081.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 138,
"aa_ref": "E",
"aa_start": 30,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1935,
"cdna_start": 1108,
"cds_end": null,
"cds_length": 417,
"cds_start": 88,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000894082.1",
"gene_hgnc_id": 9038,
"gene_symbol": "PLA2G5",
"hgvs_c": "c.88G>A",
"hgvs_p": "p.Glu30Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564141.1",
"strand": true,
"transcript": "ENST00000894082.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 138,
"aa_ref": "E",
"aa_start": 30,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1321,
"cdna_start": 497,
"cds_end": null,
"cds_length": 417,
"cds_start": 88,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000894083.1",
"gene_hgnc_id": 9038,
"gene_symbol": "PLA2G5",
"hgvs_c": "c.88G>A",
"hgvs_p": "p.Glu30Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564142.1",
"strand": true,
"transcript": "ENST00000894083.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 138,
"aa_ref": "E",
"aa_start": 30,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1865,
"cdna_start": 1060,
"cds_end": null,
"cds_length": 417,
"cds_start": 88,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000894084.1",
"gene_hgnc_id": 9038,
"gene_symbol": "PLA2G5",
"hgvs_c": "c.88G>A",
"hgvs_p": "p.Glu30Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564143.1",
"strand": true,
"transcript": "ENST00000894084.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 138,
"aa_ref": "E",
"aa_start": 30,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1883,
"cdna_start": 1078,
"cds_end": null,
"cds_length": 417,
"cds_start": 88,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000894085.1",
"gene_hgnc_id": 9038,
"gene_symbol": "PLA2G5",
"hgvs_c": "c.88G>A",
"hgvs_p": "p.Glu30Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564144.1",
"strand": true,
"transcript": "ENST00000894085.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 138,
"aa_ref": "E",
"aa_start": 30,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1480,
"cdna_start": 683,
"cds_end": null,
"cds_length": 417,
"cds_start": 88,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000894086.1",
"gene_hgnc_id": 9038,
"gene_symbol": "PLA2G5",
"hgvs_c": "c.88G>A",
"hgvs_p": "p.Glu30Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564145.1",
"strand": true,
"transcript": "ENST00000894086.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 138,
"aa_ref": "E",
"aa_start": 30,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1733,
"cdna_start": 937,
"cds_end": null,
"cds_length": 417,
"cds_start": 88,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000894087.1",
"gene_hgnc_id": 9038,
"gene_symbol": "PLA2G5",
"hgvs_c": "c.88G>A",
"hgvs_p": "p.Glu30Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564146.1",
"strand": true,
"transcript": "ENST00000894087.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 138,
"aa_ref": "E",
"aa_start": 30,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1843,
"cdna_start": 1038,
"cds_end": null,
"cds_length": 417,
"cds_start": 88,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000894088.1",
"gene_hgnc_id": 9038,
"gene_symbol": "PLA2G5",
"hgvs_c": "c.88G>A",
"hgvs_p": "p.Glu30Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564147.1",
"strand": true,
"transcript": "ENST00000894088.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 138,
"aa_ref": "E",
"aa_start": 30,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1796,
"cdna_start": 976,
"cds_end": null,
"cds_length": 417,
"cds_start": 88,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000894089.1",
"gene_hgnc_id": 9038,
"gene_symbol": "PLA2G5",
"hgvs_c": "c.88G>A",
"hgvs_p": "p.Glu30Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564148.1",
"strand": true,
"transcript": "ENST00000894089.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 138,
"aa_ref": "E",
"aa_start": 30,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1453,
"cdna_start": 634,
"cds_end": null,
"cds_length": 417,
"cds_start": 88,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000894090.1",
"gene_hgnc_id": 9038,
"gene_symbol": "PLA2G5",
"hgvs_c": "c.88G>A",
"hgvs_p": "p.Glu30Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564149.1",
"strand": true,
"transcript": "ENST00000894090.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 138,
"aa_ref": "E",
"aa_start": 30,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2056,
"cdna_start": 517,
"cds_end": null,
"cds_length": 417,
"cds_start": 88,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000894091.1",
"gene_hgnc_id": 9038,
"gene_symbol": "PLA2G5",
"hgvs_c": "c.88G>A",
"hgvs_p": "p.Glu30Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
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}