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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: 8-1771439-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=1771439&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 6,
"criteria": [
"BP4_Moderate",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "CLN8",
"hgnc_id": 2079,
"hgvs_c": "c.385C>T",
"hgvs_p": "p.Arg129Trp",
"inheritance_mode": "AR,AD",
"pathogenic_score": 0,
"score": -6,
"transcript": "NM_018941.4",
"verdict": "Likely_benign"
},
{
"benign_score": 6,
"criteria": [
"BP4_Moderate",
"BS2"
],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "KBTBD11-OT1",
"hgnc_id": null,
"hgvs_c": "n.385C>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -6,
"transcript": "ENST00000635855.1",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_score": -6,
"allele_count_reference_population": 160,
"alphamissense_prediction": null,
"alphamissense_score": 0.0803,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.36,
"chr": "8",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "Inborn genetic diseases,Neuronal ceroid lipofuscinosis,Neuronal ceroid lipofuscinosis 8,not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:4",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.0800117552280426,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 286,
"aa_ref": "R",
"aa_start": 129,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7084,
"cdna_start": 605,
"cds_end": null,
"cds_length": 861,
"cds_start": 385,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_018941.4",
"gene_hgnc_id": 2079,
"gene_symbol": "CLN8",
"hgvs_c": "c.385C>T",
"hgvs_p": "p.Arg129Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000331222.6",
"protein_coding": true,
"protein_id": "NP_061764.2",
"strand": true,
"transcript": "NM_018941.4",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 286,
"aa_ref": "R",
"aa_start": 129,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 7084,
"cdna_start": 605,
"cds_end": null,
"cds_length": 861,
"cds_start": 385,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000331222.6",
"gene_hgnc_id": 2079,
"gene_symbol": "CLN8",
"hgvs_c": "c.385C>T",
"hgvs_p": "p.Arg129Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_018941.4",
"protein_coding": true,
"protein_id": "ENSP00000328182.4",
"strand": true,
"transcript": "ENST00000331222.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": true,
"cdna_end": null,
"cdna_length": 6169,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 30,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000635855.1",
"gene_hgnc_id": null,
"gene_symbol": "KBTBD11-OT1",
"hgvs_c": "n.385C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000489726.1",
"strand": true,
"transcript": "ENST00000635855.1",
"transcript_support_level": 5
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 286,
"aa_ref": "R",
"aa_start": 129,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1769,
"cdna_start": 560,
"cds_end": null,
"cds_length": 861,
"cds_start": 385,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000519254.2",
"gene_hgnc_id": 2079,
"gene_symbol": "CLN8",
"hgvs_c": "c.385C>T",
"hgvs_p": "p.Arg129Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000490016.1",
"strand": true,
"transcript": "ENST00000519254.2",
"transcript_support_level": 5
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 286,
"aa_ref": "R",
"aa_start": 129,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1807,
"cdna_start": 673,
"cds_end": null,
"cds_length": 861,
"cds_start": 385,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000635751.1",
"gene_hgnc_id": 2079,
"gene_symbol": "CLN8",
"hgvs_c": "c.385C>T",
"hgvs_p": "p.Arg129Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000489694.1",
"strand": true,
"transcript": "ENST00000635751.1",
"transcript_support_level": 5
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 286,
"aa_ref": "R",
"aa_start": 129,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2001,
"cdna_start": 735,
"cds_end": null,
"cds_length": 861,
"cds_start": 385,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000637083.1",
"gene_hgnc_id": 2079,
"gene_symbol": "CLN8",
"hgvs_c": "c.385C>T",
"hgvs_p": "p.Arg129Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000490235.1",
"strand": true,
"transcript": "ENST00000637083.1",
"transcript_support_level": 5
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 286,
"aa_ref": "R",
"aa_start": 129,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1897,
"cdna_start": 634,
"cds_end": null,
"cds_length": 861,
"cds_start": 385,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000637156.1",
"gene_hgnc_id": 2079,
"gene_symbol": "CLN8",
"hgvs_c": "c.385C>T",
"hgvs_p": "p.Arg129Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000490458.1",
"strand": true,
"transcript": "ENST00000637156.1",
"transcript_support_level": 5
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 286,
"aa_ref": "R",
"aa_start": 129,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1955,
"cdna_start": 660,
"cds_end": null,
"cds_length": 861,
"cds_start": 385,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000859935.1",
"gene_hgnc_id": 2079,
"gene_symbol": "CLN8",
"hgvs_c": "c.385C>T",
"hgvs_p": "p.Arg129Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529994.1",
"strand": true,
"transcript": "ENST00000859935.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 286,
"aa_ref": "R",
"aa_start": 129,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1955,
"cdna_start": 660,
"cds_end": null,
"cds_length": 861,
"cds_start": 385,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000859937.1",
"gene_hgnc_id": 2079,
"gene_symbol": "CLN8",
"hgvs_c": "c.385C>T",
"hgvs_p": "p.Arg129Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529996.1",
"strand": true,
"transcript": "ENST00000859937.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 286,
"aa_ref": "R",
"aa_start": 129,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1519,
"cdna_start": 553,
"cds_end": null,
"cds_length": 861,
"cds_start": 385,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000859938.1",
"gene_hgnc_id": 2079,
"gene_symbol": "CLN8",
"hgvs_c": "c.385C>T",
"hgvs_p": "p.Arg129Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529997.1",
"strand": true,
"transcript": "ENST00000859938.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 286,
"aa_ref": "R",
"aa_start": 129,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1925,
"cdna_start": 630,
"cds_end": null,
"cds_length": 861,
"cds_start": 385,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000859939.1",
"gene_hgnc_id": 2079,
"gene_symbol": "CLN8",
"hgvs_c": "c.385C>T",
"hgvs_p": "p.Arg129Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529998.1",
"strand": true,
"transcript": "ENST00000859939.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 286,
"aa_ref": "R",
"aa_start": 129,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1948,
"cdna_start": 674,
"cds_end": null,
"cds_length": 861,
"cds_start": 385,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000859940.1",
"gene_hgnc_id": 2079,
"gene_symbol": "CLN8",
"hgvs_c": "c.385C>T",
"hgvs_p": "p.Arg129Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529999.1",
"strand": true,
"transcript": "ENST00000859940.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 286,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1870,
"cdna_start": 596,
"cds_end": null,
"cds_length": 861,
"cds_start": 385,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000859941.1",
"gene_hgnc_id": 2079,
"gene_symbol": "CLN8",
"hgvs_c": "c.385C>T",
"hgvs_p": "p.Arg129Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000530000.1",
"strand": true,
"transcript": "ENST00000859941.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 286,
"aa_ref": "R",
"aa_start": 129,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3329,
"cdna_start": 680,
"cds_end": null,
"cds_length": 861,
"cds_start": 385,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000933685.1",
"gene_hgnc_id": 2079,
"gene_symbol": "CLN8",
"hgvs_c": "c.385C>T",
"hgvs_p": "p.Arg129Trp",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000603744.1",
"strand": true,
"transcript": "ENST00000933685.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 286,
"aa_ref": "R",
"aa_start": 129,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1996,
"cdna_start": 706,
"cds_end": null,
"cds_length": 861,
"cds_start": 385,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000933688.1",
"gene_hgnc_id": 2079,
"gene_symbol": "CLN8",
"hgvs_c": "c.385C>T",
"hgvs_p": "p.Arg129Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000603747.1",
"strand": true,
"transcript": "ENST00000933688.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 286,
"aa_ref": "R",
"aa_start": 129,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1876,
"cdna_start": 586,
"cds_end": null,
"cds_length": 861,
"cds_start": 385,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000933689.1",
"gene_hgnc_id": 2079,
"gene_symbol": "CLN8",
"hgvs_c": "c.385C>T",
"hgvs_p": "p.Arg129Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000603748.1",
"strand": true,
"transcript": "ENST00000933689.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
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"aa_length": 286,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1287,
"cdna_start": 611,
"cds_end": null,
"cds_length": 861,
"cds_start": 385,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000933692.1",
"gene_hgnc_id": 2079,
"gene_symbol": "CLN8",
"hgvs_c": "c.385C>T",
"hgvs_p": "p.Arg129Trp",
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000603751.1",
"strand": true,
"transcript": "ENST00000933692.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 286,
"aa_ref": "R",
"aa_start": 129,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1552,
"cdna_start": 602,
"cds_end": null,
"cds_length": 861,
"cds_start": 385,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000965220.1",
"gene_hgnc_id": 2079,
"gene_symbol": "CLN8",
"hgvs_c": "c.385C>T",
"hgvs_p": "p.Arg129Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000635279.1",
"strand": true,
"transcript": "ENST00000965220.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
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"aa_length": 286,
"aa_ref": "R",
"aa_start": 129,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1288,
"cdna_start": 612,
"cds_end": null,
"cds_length": 861,
"cds_start": 385,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000965221.1",
"gene_hgnc_id": 2079,
"gene_symbol": "CLN8",
"hgvs_c": "c.385C>T",
"hgvs_p": "p.Arg129Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000635280.1",
"strand": true,
"transcript": "ENST00000965221.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 286,
"aa_ref": "R",
"aa_start": 129,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1315,
"cdna_start": 641,
"cds_end": null,
"cds_length": 861,
"cds_start": 385,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000965222.1",
"gene_hgnc_id": 2079,
"gene_symbol": "CLN8",
"hgvs_c": "c.385C>T",
"hgvs_p": "p.Arg129Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000635281.1",
"strand": true,
"transcript": "ENST00000965222.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 216,
"aa_ref": "R",
"aa_start": 129,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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