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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: 8-76983895-TATCTC-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=76983895&ref=TATCTC&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PVS1",
"PS3",
"PM2",
"PP5_Very_Strong"
],
"effects": [
"frameshift_variant"
],
"gene_symbol": "PEX2",
"hgnc_id": 9717,
"hgvs_c": "c.279_283delGAGAT",
"hgvs_p": "p.Arg94fs",
"inheritance_mode": "AR",
"pathogenic_score": 22,
"score": 22,
"transcript": "NM_000318.3",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PS3,PM2,PP5_Very_Strong",
"acmg_score": 22,
"allele_count_reference_population": 12,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "8",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_disease": "Peroxisome biogenesis disorder,Peroxisome biogenesis disorder 5A (Zellweger),Peroxisome biogenesis disorder 5B,Zellweger spectrum disorders",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:3 LP:1",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 305,
"aa_ref": "LRY",
"aa_start": 93,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4169,
"cdna_start": 531,
"cds_end": null,
"cds_length": 918,
"cds_start": 279,
"consequences": [
"frameshift_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_000318.3",
"gene_hgnc_id": 9717,
"gene_symbol": "PEX2",
"hgvs_c": "c.279_283delGAGAT",
"hgvs_p": "p.Arg94fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000357039.9",
"protein_coding": true,
"protein_id": "NP_000309.2",
"strand": false,
"transcript": "NM_000318.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 305,
"aa_ref": "LRY",
"aa_start": 93,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4169,
"cdna_start": 531,
"cds_end": null,
"cds_length": 918,
"cds_start": 279,
"consequences": [
"frameshift_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000357039.9",
"gene_hgnc_id": 9717,
"gene_symbol": "PEX2",
"hgvs_c": "c.279_283delGAGAT",
"hgvs_p": "p.Arg94fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000318.3",
"protein_coding": true,
"protein_id": "ENSP00000349543.4",
"strand": false,
"transcript": "ENST00000357039.9",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 305,
"aa_ref": "LRY",
"aa_start": 93,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1627,
"cdna_start": 688,
"cds_end": null,
"cds_length": 918,
"cds_start": 279,
"consequences": [
"frameshift_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000522527.5",
"gene_hgnc_id": 9717,
"gene_symbol": "PEX2",
"hgvs_c": "c.279_283delGAGAT",
"hgvs_p": "p.Arg94fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000428638.1",
"strand": false,
"transcript": "ENST00000522527.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 305,
"aa_ref": "LRY",
"aa_start": 93,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4137,
"cdna_start": 499,
"cds_end": null,
"cds_length": 918,
"cds_start": 279,
"consequences": [
"frameshift_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001079867.2",
"gene_hgnc_id": 9717,
"gene_symbol": "PEX2",
"hgvs_c": "c.279_283delGAGAT",
"hgvs_p": "p.Arg94fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001073336.2",
"strand": false,
"transcript": "NM_001079867.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 305,
"aa_ref": "LRY",
"aa_start": 93,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4385,
"cdna_start": 747,
"cds_end": null,
"cds_length": 918,
"cds_start": 279,
"consequences": [
"frameshift_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001172086.2",
"gene_hgnc_id": 9717,
"gene_symbol": "PEX2",
"hgvs_c": "c.279_283delGAGAT",
"hgvs_p": "p.Arg94fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001165557.2",
"strand": false,
"transcript": "NM_001172086.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 305,
"aa_ref": "LRY",
"aa_start": 93,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4243,
"cdna_start": 605,
"cds_end": null,
"cds_length": 918,
"cds_start": 279,
"consequences": [
"frameshift_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001172087.2",
"gene_hgnc_id": 9717,
"gene_symbol": "PEX2",
"hgvs_c": "c.279_283delGAGAT",
"hgvs_p": "p.Arg94fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001165558.2",
"strand": false,
"transcript": "NM_001172087.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 305,
"aa_ref": "LRY",
"aa_start": 93,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1470,
"cdna_start": 508,
"cds_end": null,
"cds_length": 918,
"cds_start": 279,
"consequences": [
"frameshift_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000520103.5",
"gene_hgnc_id": 9717,
"gene_symbol": "PEX2",
"hgvs_c": "c.279_283delGAGAT",
"hgvs_p": "p.Arg94fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000428590.1",
"strand": false,
"transcript": "ENST00000520103.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 305,
"aa_ref": "LRY",
"aa_start": 93,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2938,
"cdna_start": 536,
"cds_end": null,
"cds_length": 918,
"cds_start": 279,
"consequences": [
"frameshift_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000898979.1",
"gene_hgnc_id": 9717,
"gene_symbol": "PEX2",
"hgvs_c": "c.279_283delGAGAT",
"hgvs_p": "p.Arg94fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000569038.1",
"strand": false,
"transcript": "ENST00000898979.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 305,
"aa_ref": "LRY",
"aa_start": 93,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2411,
"cdna_start": 576,
"cds_end": null,
"cds_length": 918,
"cds_start": 279,
"consequences": [
"frameshift_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000898980.1",
"gene_hgnc_id": 9717,
"gene_symbol": "PEX2",
"hgvs_c": "c.279_283delGAGAT",
"hgvs_p": "p.Arg94fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000569039.1",
"strand": false,
"transcript": "ENST00000898980.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 305,
"aa_ref": "LRY",
"aa_start": 93,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2433,
"cdna_start": 598,
"cds_end": null,
"cds_length": 918,
"cds_start": 279,
"consequences": [
"frameshift_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000898981.1",
"gene_hgnc_id": 9717,
"gene_symbol": "PEX2",
"hgvs_c": "c.279_283delGAGAT",
"hgvs_p": "p.Arg94fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000569040.1",
"strand": false,
"transcript": "ENST00000898981.1",
"transcript_support_level": null
},
{
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"aa_end": null,
"aa_length": 305,
"aa_ref": "LRY",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1505,
"cdna_start": 531,
"cds_end": null,
"cds_length": 918,
"cds_start": 279,
"consequences": [
"frameshift_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000898982.1",
"gene_hgnc_id": 9717,
"gene_symbol": "PEX2",
"hgvs_c": "c.279_283delGAGAT",
"hgvs_p": "p.Arg94fs",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000569041.1",
"strand": false,
"transcript": "ENST00000898982.1",
"transcript_support_level": null
},
{
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"aa_ref": "LRY",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1533,
"cdna_start": 558,
"cds_end": null,
"cds_length": 918,
"cds_start": 279,
"consequences": [
"frameshift_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000898983.1",
"gene_hgnc_id": 9717,
"gene_symbol": "PEX2",
"hgvs_c": "c.279_283delGAGAT",
"hgvs_p": "p.Arg94fs",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000569042.1",
"strand": false,
"transcript": "ENST00000898983.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_start": 456,
"cds_end": null,
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"cds_start": 279,
"consequences": [
"frameshift_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000898984.1",
"gene_hgnc_id": 9717,
"gene_symbol": "PEX2",
"hgvs_c": "c.279_283delGAGAT",
"hgvs_p": "p.Arg94fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000569043.1",
"strand": false,
"transcript": "ENST00000898984.1",
"transcript_support_level": null
},
{
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"aa_ref": "LRY",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 1506,
"cdna_start": 531,
"cds_end": null,
"cds_length": 918,
"cds_start": 279,
"consequences": [
"frameshift_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000898985.1",
"gene_hgnc_id": 9717,
"gene_symbol": "PEX2",
"hgvs_c": "c.279_283delGAGAT",
"hgvs_p": "p.Arg94fs",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000569044.1",
"strand": false,
"transcript": "ENST00000898985.1",
"transcript_support_level": null
},
{
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"cdna_length": 1396,
"cdna_start": 421,
"cds_end": null,
"cds_length": 918,
"cds_start": 279,
"consequences": [
"frameshift_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000898986.1",
"gene_hgnc_id": 9717,
"gene_symbol": "PEX2",
"hgvs_c": "c.279_283delGAGAT",
"hgvs_p": "p.Arg94fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000569045.1",
"strand": false,
"transcript": "ENST00000898986.1",
"transcript_support_level": null
},
{
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"aa_end": null,
"aa_length": 305,
"aa_ref": "LRY",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5489,
"cdna_start": 4516,
"cds_end": null,
"cds_length": 918,
"cds_start": 279,
"consequences": [
"frameshift_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000898987.1",
"gene_hgnc_id": 9717,
"gene_symbol": "PEX2",
"hgvs_c": "c.279_283delGAGAT",
"hgvs_p": "p.Arg94fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000569046.1",
"strand": false,
"transcript": "ENST00000898987.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_length": 4976,
"cdna_start": 3141,
"cds_end": null,
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"consequences": [
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],
"exon_count": 2,
"exon_rank": 2,
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"feature": "ENST00000898988.1",
"gene_hgnc_id": 9717,
"gene_symbol": "PEX2",
"hgvs_c": "c.279_283delGAGAT",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000569047.1",
"strand": false,
"transcript": "ENST00000898988.1",
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},
{
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"consequences": [
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],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000898989.1",
"gene_hgnc_id": 9717,
"gene_symbol": "PEX2",
"hgvs_c": "c.279_283delGAGAT",
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"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000569048.1",
"strand": false,
"transcript": "ENST00000898989.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_start": 2444,
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"consequences": [
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],
"exon_count": 2,
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"exon_rank_end": null,
"feature": "ENST00000898990.1",
"gene_hgnc_id": 9717,
"gene_symbol": "PEX2",
"hgvs_c": "c.279_283delGAGAT",
"hgvs_p": "p.Arg94fs",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000569049.1",
"strand": false,
"transcript": "ENST00000898990.1",
"transcript_support_level": null
},
{
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"aa_ref": "LRY",
"aa_start": 93,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2337,
"cdna_start": 502,
"cds_end": null,
"cds_length": 918,
"cds_start": 279,
"consequences": [
"frameshift_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000898991.1",
"gene_hgnc_id": 9717,
"gene_symbol": "PEX2",
"hgvs_c": "c.279_283delGAGAT",
"hgvs_p": "p.Arg94fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000569050.1",
"strand": false,
"transcript": "ENST00000898991.1",
"transcript_support_level": null
},
{
"aa_alt": null,
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"aa_length": 305,
"aa_ref": "LRY",
"aa_start": 93,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4371,
"cdna_start": 2536,
"cds_end": null,
"cds_length": 918,
"cds_start": 279,
"consequences": [
"frameshift_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000933667.1",
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