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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: 4-128857921-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=128857921&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"intron_variant"
],
"gene_symbol": "JADE1",
"hgnc_id": 30027,
"hgvs_c": "c.981+467T>G",
"hgvs_p": null,
"inheritance_mode": "AD",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_199320.4",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_score": -2,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.92,
"chr": "4",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.9200000166893005,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 842,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5695,
"cdna_start": null,
"cds_end": null,
"cds_length": 2529,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_199320.4",
"gene_hgnc_id": 30027,
"gene_symbol": "JADE1",
"hgvs_c": "c.981+467T>G",
"hgvs_p": null,
"intron_rank": 8,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000226319.11",
"protein_coding": true,
"protein_id": "NP_955352.1",
"strand": true,
"transcript": "NM_199320.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 842,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5695,
"cdna_start": null,
"cds_end": null,
"cds_length": 2529,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000226319.11",
"gene_hgnc_id": 30027,
"gene_symbol": "JADE1",
"hgvs_c": "c.981+467T>G",
"hgvs_p": null,
"intron_rank": 8,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_199320.4",
"protein_coding": true,
"protein_id": "ENSP00000226319.6",
"strand": true,
"transcript": "ENST00000226319.11",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 509,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4012,
"cdna_start": null,
"cds_end": null,
"cds_length": 1530,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000413543.6",
"gene_hgnc_id": 30027,
"gene_symbol": "JADE1",
"hgvs_c": "c.981+467T>G",
"hgvs_p": null,
"intron_rank": 8,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000404211.2",
"strand": true,
"transcript": "ENST00000413543.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 509,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3560,
"cdna_start": null,
"cds_end": null,
"cds_length": 1530,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000511647.5",
"gene_hgnc_id": 30027,
"gene_symbol": "JADE1",
"hgvs_c": "c.981+467T>G",
"hgvs_p": null,
"intron_rank": 8,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000423737.1",
"strand": true,
"transcript": "ENST00000511647.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 875,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3794,
"cdna_start": null,
"cds_end": null,
"cds_length": 2628,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000947587.1",
"gene_hgnc_id": 30027,
"gene_symbol": "JADE1",
"hgvs_c": "c.1080+467T>G",
"hgvs_p": null,
"intron_rank": 8,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000617646.1",
"strand": true,
"transcript": "ENST00000947587.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 866,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3828,
"cdna_start": null,
"cds_end": null,
"cds_length": 2601,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000887597.1",
"gene_hgnc_id": 30027,
"gene_symbol": "JADE1",
"hgvs_c": "c.1053+467T>G",
"hgvs_p": null,
"intron_rank": 9,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000557656.1",
"strand": true,
"transcript": "ENST00000887597.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 866,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3777,
"cdna_start": null,
"cds_end": null,
"cds_length": 2601,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000933993.1",
"gene_hgnc_id": 30027,
"gene_symbol": "JADE1",
"hgvs_c": "c.1053+467T>G",
"hgvs_p": null,
"intron_rank": 9,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000604052.1",
"strand": true,
"transcript": "ENST00000933993.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 866,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3827,
"cdna_start": null,
"cds_end": null,
"cds_length": 2601,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000933995.1",
"gene_hgnc_id": 30027,
"gene_symbol": "JADE1",
"hgvs_c": "c.1053+467T>G",
"hgvs_p": null,
"intron_rank": 10,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000604054.1",
"strand": true,
"transcript": "ENST00000933995.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 866,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3947,
"cdna_start": null,
"cds_end": null,
"cds_length": 2601,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000947588.1",
"gene_hgnc_id": 30027,
"gene_symbol": "JADE1",
"hgvs_c": "c.1053+467T>G",
"hgvs_p": null,
"intron_rank": 9,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000617647.1",
"strand": true,
"transcript": "ENST00000947588.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 842,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5831,
"cdna_start": null,
"cds_end": null,
"cds_length": 2529,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001287439.2",
"gene_hgnc_id": 30027,
"gene_symbol": "JADE1",
"hgvs_c": "c.981+467T>G",
"hgvs_p": null,
"intron_rank": 8,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001274368.1",
"strand": true,
"transcript": "NM_001287439.2",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
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"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001287440.2",
"gene_hgnc_id": 30027,
"gene_symbol": "JADE1",
"hgvs_c": "c.981+467T>G",
"hgvs_p": null,
"intron_rank": 8,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001274369.1",
"strand": true,
"transcript": "NM_001287440.2",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
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"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 11,
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"feature": "NM_001287442.1",
"gene_hgnc_id": 30027,
"gene_symbol": "JADE1",
"hgvs_c": "c.981+467T>G",
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001274371.1",
"strand": true,
"transcript": "NM_001287442.1",
"transcript_support_level": null
},
{
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],
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"feature": "NM_001287443.1",
"gene_hgnc_id": 30027,
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"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001274372.1",
"strand": true,
"transcript": "NM_001287443.1",
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},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3000,
"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 11,
"exon_rank": null,
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"feature": "ENST00000512960.5",
"gene_hgnc_id": 30027,
"gene_symbol": "JADE1",
"hgvs_c": "c.981+467T>G",
"hgvs_p": null,
"intron_rank": 8,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000425730.1",
"strand": true,
"transcript": "ENST00000512960.5",
"transcript_support_level": 2
},
{
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"consequences": [
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],
"exon_count": 11,
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"feature": "ENST00000610919.4",
"gene_hgnc_id": 30027,
"gene_symbol": "JADE1",
"hgvs_c": "c.981+467T>G",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000483219.1",
"strand": true,
"transcript": "ENST00000610919.4",
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},
{
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"cds_start": null,
"consequences": [
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],
"exon_count": 11,
"exon_rank": null,
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"feature": "ENST00000611140.4",
"gene_hgnc_id": 30027,
"gene_symbol": "JADE1",
"hgvs_c": "c.981+467T>G",
"hgvs_p": null,
"intron_rank": 8,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000482212.1",
"strand": true,
"transcript": "ENST00000611140.4",
"transcript_support_level": 5
},
{
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"biotype": "protein_coding",
"canonical": false,
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"cdna_length": 4046,
"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000887598.1",
"gene_hgnc_id": 30027,
"gene_symbol": "JADE1",
"hgvs_c": "c.981+467T>G",
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"intron_rank": 9,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000557657.1",
"strand": true,
"transcript": "ENST00000887598.1",
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},
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"consequences": [
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],
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"feature": "ENST00000887600.1",
"gene_hgnc_id": 30027,
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"transcript": "ENST00000887600.1",
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},
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"consequences": [
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],
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"feature": "ENST00000887601.1",
"gene_hgnc_id": 30027,
"gene_symbol": "JADE1",
"hgvs_c": "c.981+467T>G",
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"mane_plus": null,
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"protein_id": "ENSP00000557660.1",
"strand": true,
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},
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"cds_start": null,
"consequences": [
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],
"exon_count": 11,
"exon_rank": null,
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"feature": "ENST00000887603.1",
"gene_hgnc_id": 30027,
"gene_symbol": "JADE1",
"hgvs_c": "c.981+467T>G",
"hgvs_p": null,
"intron_rank": 8,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000557662.1",
"strand": true,
"transcript": "ENST00000887603.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
"cds_length": 2529,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000887604.1",
"gene_hgnc_id": 30027,
"gene_symbol": "JADE1",
"hgvs_c": "c.981+467T>G",
"hgvs_p": null,
"intron_rank": 9,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000557663.1",
"strand": true,
"transcript": "ENST00000887604.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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