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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: 11-67418845-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=67418845&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "CARNS1",
"hgnc_id": 29268,
"hgvs_c": "c.454G>A",
"hgvs_p": "p.Ala152Thr",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_001166222.2",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"intron_variant"
],
"gene_symbol": "PPP1CA",
"hgnc_id": 9281,
"hgvs_c": "n.395+563C>T",
"hgvs_p": null,
"inheritance_mode": "AD",
"pathogenic_score": 2,
"score": 2,
"transcript": "ENST00000542876.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_score": 2,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.7201,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.17,
"chr": "11",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.5105334520339966,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 950,
"aa_ref": "A",
"aa_start": 152,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3966,
"cdna_start": 564,
"cds_end": null,
"cds_length": 2853,
"cds_start": 454,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001166222.2",
"gene_hgnc_id": 29268,
"gene_symbol": "CARNS1",
"hgvs_c": "c.454G>A",
"hgvs_p": "p.Ala152Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000687366.1",
"protein_coding": true,
"protein_id": "NP_001159694.1",
"strand": true,
"transcript": "NM_001166222.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 950,
"aa_ref": "A",
"aa_start": 152,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3966,
"cdna_start": 564,
"cds_end": null,
"cds_length": 2853,
"cds_start": 454,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000687366.1",
"gene_hgnc_id": 29268,
"gene_symbol": "CARNS1",
"hgvs_c": "c.454G>A",
"hgvs_p": "p.Ala152Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001166222.2",
"protein_coding": true,
"protein_id": "ENSP00000510668.1",
"strand": true,
"transcript": "ENST00000687366.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 827,
"aa_ref": "A",
"aa_start": 29,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3942,
"cdna_start": 537,
"cds_end": null,
"cds_length": 2484,
"cds_start": 85,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000307823.7",
"gene_hgnc_id": 29268,
"gene_symbol": "CARNS1",
"hgvs_c": "c.85G>A",
"hgvs_p": "p.Ala29Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000308268.3",
"strand": true,
"transcript": "ENST00000307823.7",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 950,
"aa_ref": "A",
"aa_start": 152,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3971,
"cdna_start": 568,
"cds_end": null,
"cds_length": 2853,
"cds_start": 454,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000445895.2",
"gene_hgnc_id": 29268,
"gene_symbol": "CARNS1",
"hgvs_c": "c.454G>A",
"hgvs_p": "p.Ala152Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000389009.2",
"strand": true,
"transcript": "ENST00000445895.2",
"transcript_support_level": 5
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 950,
"aa_ref": "A",
"aa_start": 152,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4040,
"cdna_start": 635,
"cds_end": null,
"cds_length": 2853,
"cds_start": 454,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000878861.1",
"gene_hgnc_id": 29268,
"gene_symbol": "CARNS1",
"hgvs_c": "c.454G>A",
"hgvs_p": "p.Ala152Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548920.1",
"strand": true,
"transcript": "ENST00000878861.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 950,
"aa_ref": "A",
"aa_start": 152,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4045,
"cdna_start": 634,
"cds_end": null,
"cds_length": 2853,
"cds_start": 454,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000963873.1",
"gene_hgnc_id": 29268,
"gene_symbol": "CARNS1",
"hgvs_c": "c.454G>A",
"hgvs_p": "p.Ala152Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000633932.1",
"strand": true,
"transcript": "ENST00000963873.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 950,
"aa_ref": "A",
"aa_start": 152,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4044,
"cdna_start": 642,
"cds_end": null,
"cds_length": 2853,
"cds_start": 454,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000963874.1",
"gene_hgnc_id": 29268,
"gene_symbol": "CARNS1",
"hgvs_c": "c.454G>A",
"hgvs_p": "p.Ala152Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000633933.1",
"strand": true,
"transcript": "ENST00000963874.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 935,
"aa_ref": "A",
"aa_start": 152,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3925,
"cdna_start": 568,
"cds_end": null,
"cds_length": 2808,
"cds_start": 454,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000878862.1",
"gene_hgnc_id": 29268,
"gene_symbol": "CARNS1",
"hgvs_c": "c.454G>A",
"hgvs_p": "p.Ala152Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548921.1",
"strand": true,
"transcript": "ENST00000878862.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 924,
"aa_ref": "A",
"aa_start": 152,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2968,
"cdna_start": 564,
"cds_end": null,
"cds_length": 2775,
"cds_start": 454,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000531040.5",
"gene_hgnc_id": 29268,
"gene_symbol": "CARNS1",
"hgvs_c": "c.454G>A",
"hgvs_p": "p.Ala152Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000431670.1",
"strand": true,
"transcript": "ENST00000531040.5",
"transcript_support_level": 5
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 920,
"aa_ref": "A",
"aa_start": 122,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3876,
"cdna_start": 474,
"cds_end": null,
"cds_length": 2763,
"cds_start": 364,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001394577.1",
"gene_hgnc_id": 29268,
"gene_symbol": "CARNS1",
"hgvs_c": "c.364G>A",
"hgvs_p": "p.Ala122Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001381506.1",
"strand": true,
"transcript": "NM_001394577.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 827,
"aa_ref": "A",
"aa_start": 29,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3695,
"cdna_start": 293,
"cds_end": null,
"cds_length": 2484,
"cds_start": 85,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001394578.1",
"gene_hgnc_id": 29268,
"gene_symbol": "CARNS1",
"hgvs_c": "c.85G>A",
"hgvs_p": "p.Ala29Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001381507.1",
"strand": true,
"transcript": "NM_001394578.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 827,
"aa_ref": "A",
"aa_start": 29,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3578,
"cdna_start": 176,
"cds_end": null,
"cds_length": 2484,
"cds_start": 85,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001394579.1",
"gene_hgnc_id": 29268,
"gene_symbol": "CARNS1",
"hgvs_c": "c.85G>A",
"hgvs_p": "p.Ala29Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001381508.1",
"strand": true,
"transcript": "NM_001394579.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 827,
"aa_ref": "A",
"aa_start": 29,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3939,
"cdna_start": 537,
"cds_end": null,
"cds_length": 2484,
"cds_start": 85,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_020811.2",
"gene_hgnc_id": 29268,
"gene_symbol": "CARNS1",
"hgvs_c": "c.85G>A",
"hgvs_p": "p.Ala29Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_065862.1",
"strand": true,
"transcript": "NM_020811.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 624,
"aa_ref": "A",
"aa_start": 152,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2983,
"cdna_start": 561,
"cds_end": null,
"cds_length": 1875,
"cds_start": 454,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000963876.1",
"gene_hgnc_id": 29268,
"gene_symbol": "CARNS1",
"hgvs_c": "c.454G>A",
"hgvs_p": "p.Ala152Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000633935.1",
"strand": true,
"transcript": "ENST00000963876.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 818,
"aa_ref": "A",
"aa_start": 152,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3574,
"cdna_start": 568,
"cds_end": null,
"cds_length": 2457,
"cds_start": 454,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000878863.1",
"gene_hgnc_id": 29268,
"gene_symbol": "CARNS1",
"hgvs_c": "c.454G>A",
"hgvs_p": "p.Ala152Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548922.1",
"strand": true,
"transcript": "ENST00000878863.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 786,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3474,
"cdna_start": null,
"cds_end": null,
"cds_length": 2361,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000963875.1",
"gene_hgnc_id": 29268,
"gene_symbol": "CARNS1",
"hgvs_c": "c.364+325G>A",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000633934.1",
"strand": true,
"transcript": "ENST00000963875.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 667,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3120,
"cdna_start": null,
"cds_end": null,
"cds_length": 2004,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000878864.1",
"gene_hgnc_id": 29268,
"gene_symbol": "CARNS1",
"hgvs_c": "c.4-642G>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548923.1",
"strand": true,
"transcript": "ENST00000878864.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 5065,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000531388.1",
"gene_hgnc_id": 29268,
"gene_symbol": "CARNS1",
"hgvs_c": "n.1662G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000531388.1",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 2369,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000531958.5",
"gene_hgnc_id": 29268,
"gene_symbol": "CARNS1",
"hgvs_c": "n.1768G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000531958.5",
"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": 588,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000542876.1",
"gene_hgnc_id": 9281,
"gene_symbol": "PPP1CA",
"hgvs_c": "n.395+563C>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000542876.1",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 554,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000546202.5",
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