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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: 3-126160230-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=126160230&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 126160230,
"ref": "T",
"alt": "G",
"effect": "intron_variant",
"transcript": "ENST00000393434.7",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ALDH1L1",
"gene_hgnc_id": 3978,
"hgvs_c": "c.127+623A>C",
"hgvs_p": null,
"transcript": "NM_012190.4",
"protein_id": "NP_036322.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 902,
"cds_start": -4,
"cds_end": null,
"cds_length": 2709,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3064,
"mane_select": "ENST00000393434.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ALDH1L1",
"gene_hgnc_id": 3978,
"hgvs_c": "c.127+623A>C",
"hgvs_p": null,
"transcript": "ENST00000393434.7",
"protein_id": "ENSP00000377083.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 902,
"cds_start": -4,
"cds_end": null,
"cds_length": 2709,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3064,
"mane_select": "NM_012190.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ALDH1L1",
"gene_hgnc_id": 3978,
"hgvs_c": "c.157+623A>C",
"hgvs_p": null,
"transcript": "ENST00000273450.7",
"protein_id": "ENSP00000273450.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 912,
"cds_start": -4,
"cds_end": null,
"cds_length": 2739,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3179,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ALDH1L1",
"gene_hgnc_id": 3978,
"hgvs_c": "c.127+623A>C",
"hgvs_p": null,
"transcript": "ENST00000393431.6",
"protein_id": "ENSP00000377081.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 505,
"cds_start": -4,
"cds_end": null,
"cds_length": 1518,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2797,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 13,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ALDH1L1",
"gene_hgnc_id": 3978,
"hgvs_c": "n.127+623A>C",
"hgvs_p": null,
"transcript": "ENST00000473607.5",
"protein_id": "ENSP00000419448.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2192,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ALDH1L1",
"gene_hgnc_id": 3978,
"hgvs_c": "c.157+623A>C",
"hgvs_p": null,
"transcript": "NM_001270364.2",
"protein_id": "NP_001257293.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 912,
"cds_start": -4,
"cds_end": null,
"cds_length": 2739,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3178,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ALDH1L1",
"gene_hgnc_id": 3978,
"hgvs_c": "c.127+623A>C",
"hgvs_p": null,
"transcript": "ENST00000472186.5",
"protein_id": "ENSP00000420293.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 902,
"cds_start": -4,
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"cds_length": 2709,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3157,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ALDH1L1",
"gene_hgnc_id": 3978,
"hgvs_c": "c.127+623A>C",
"hgvs_p": null,
"transcript": "NM_001270365.2",
"protein_id": "NP_001257294.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 801,
"cds_start": -4,
"cds_end": null,
"cds_length": 2406,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2761,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ALDH1L1",
"gene_hgnc_id": 3978,
"hgvs_c": "c.127+623A>C",
"hgvs_p": null,
"transcript": "ENST00000452905.6",
"protein_id": "ENSP00000395881.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 801,
"cds_start": -4,
"cds_end": null,
"cds_length": 2406,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2758,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ALDH1L1",
"gene_hgnc_id": 3978,
"hgvs_c": "c.127+623A>C",
"hgvs_p": null,
"transcript": "ENST00000455064.6",
"protein_id": "ENSP00000414126.3",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
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"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
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"gene_symbol": "ALDH1L1",
"gene_hgnc_id": 3978,
"hgvs_c": "c.127+623A>C",
"hgvs_p": null,
"transcript": "ENST00000490367.5",
"protein_id": "ENSP00000418711.1",
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"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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},
{
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"consequences": [
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],
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"gene_symbol": "ALDH1L1",
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"hgvs_c": "c.127+623A>C",
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},
{
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"strand": false,
"consequences": [
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],
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"gene_symbol": "ALDH1L1",
"gene_hgnc_id": 3978,
"hgvs_c": "c.127+623A>C",
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"transcript": "ENST00000488356.5",
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},
{
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"consequences": [
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],
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"gene_symbol": "ALDH1L1",
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"hgvs_c": "c.127+623A>C",
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"transcript": "ENST00000509952.5",
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},
{
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],
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"gene_symbol": "ALDH1L1",
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"hgvs_c": "n.127+623A>C",
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"transcript": "ENST00000493803.5",
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},
{
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"strand": false,
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],
"exon_rank": null,
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"intron_rank": 2,
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"gene_symbol": "ALDH1L1",
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"hgvs_c": "n.127+623A>C",
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"transcript": "ENST00000511283.2",
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},
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],
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"gene_symbol": "ALDH1L1",
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"hgvs_c": "n.261+623A>C",
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"transcript": "NR_072979.2",
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},
{
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],
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"exon_count": 23,
"intron_rank": 2,
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"gene_symbol": "ALDH1L1",
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"hgvs_c": "c.127+623A>C",
"hgvs_p": null,
"transcript": "XM_006713481.4",
"protein_id": "XP_006713544.1",
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},
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"consequences": [
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],
"exon_rank": null,
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"gene_symbol": "ALDH1L1",
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"hgvs_c": "c.127+623A>C",
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],
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},
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],
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"gene_symbol": "ALDH1L1",
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},
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 2,
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"gene_symbol": "ALDH1L1",
"gene_hgnc_id": 3978,
"hgvs_c": "c.127+623A>C",
"hgvs_p": null,
"transcript": "XM_017005614.3",
"protein_id": "XP_016861103.1",
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"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LOC105374083",
"gene_hgnc_id": null,
"hgvs_c": "n.93+55T>G",
"hgvs_p": null,
"transcript": "XR_007096056.1",
"protein_id": null,
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},
{
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}
],
"gene_symbol": "ALDH1L1",
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"allele_count_reference_population": 0,
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"computational_score_selected": -0.8899999856948853,
"computational_prediction_selected": "Benign",
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": -0.89,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": null,
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"acmg_score": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000393434.7",
"gene_symbol": "ALDH1L1",
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"effects": [
"intron_variant"
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"inheritance_mode": "AR",
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},
{
"score": -2,
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"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "XR_007096056.1",
"gene_symbol": "LOC105374083",
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"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.93+55T>G",
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},
{
"score": -2,
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"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000606575.1",
"gene_symbol": "RNU1-30P",
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"effects": [
"downstream_gene_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.*53A>C",
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}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}