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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: 2-111123827-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=111123827&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 1,
"criteria": [
"PM2",
"BP4"
],
"effects": [
"missense_variant"
],
"gene_symbol": "BCL2L11",
"hgnc_id": 994,
"hgvs_c": "c.82C>G",
"hgvs_p": "p.Leu28Val",
"inheritance_mode": "AD",
"pathogenic_score": 2,
"score": 1,
"transcript": "NM_138621.5",
"verdict": "Uncertain_significance"
},
{
"benign_score": 1,
"criteria": [
"PM2",
"BP4"
],
"effects": [
"intron_variant"
],
"gene_symbol": "MIR4435-2HG",
"hgnc_id": 35163,
"hgvs_c": "n.453-86905G>C",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 1,
"transcript": "ENST00000645030.2",
"verdict": "Uncertain_significance"
},
{
"benign_score": 1,
"criteria": [
"PM2",
"BP4"
],
"effects": [
"downstream_gene_variant"
],
"gene_symbol": "ENSG00000293584",
"hgnc_id": null,
"hgvs_c": "c.*62C>G",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 1,
"transcript": "ENST00000715207.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_score": 1,
"allele_count_reference_population": 4,
"alphamissense_prediction": null,
"alphamissense_score": 0.1257,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.21,
"chr": "2",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.3094385862350464,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 198,
"aa_ref": "L",
"aa_start": 28,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5098,
"cdna_start": 370,
"cds_end": null,
"cds_length": 597,
"cds_start": 82,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_138621.5",
"gene_hgnc_id": 994,
"gene_symbol": "BCL2L11",
"hgvs_c": "c.82C>G",
"hgvs_p": "p.Leu28Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000393256.8",
"protein_coding": true,
"protein_id": "NP_619527.1",
"strand": true,
"transcript": "NM_138621.5",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 198,
"aa_ref": "L",
"aa_start": 28,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5098,
"cdna_start": 370,
"cds_end": null,
"cds_length": 597,
"cds_start": 82,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000393256.8",
"gene_hgnc_id": 994,
"gene_symbol": "BCL2L11",
"hgvs_c": "c.82C>G",
"hgvs_p": "p.Leu28Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_138621.5",
"protein_coding": true,
"protein_id": "ENSP00000376943.2",
"strand": true,
"transcript": "ENST00000393256.8",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 112,
"aa_ref": "L",
"aa_start": 28,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 713,
"cdna_start": 370,
"cds_end": null,
"cds_length": 339,
"cds_start": 82,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000405953.6",
"gene_hgnc_id": 994,
"gene_symbol": "BCL2L11",
"hgvs_c": "c.82C>G",
"hgvs_p": "p.Leu28Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000384641.1",
"strand": true,
"transcript": "ENST00000405953.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 443,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000361493.10",
"gene_hgnc_id": 994,
"gene_symbol": "BCL2L11",
"hgvs_c": "n.82C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000354879.6",
"strand": true,
"transcript": "ENST00000361493.10",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 438,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000415458.5",
"gene_hgnc_id": 994,
"gene_symbol": "BCL2L11",
"hgvs_c": "n.82C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000393781.1",
"strand": true,
"transcript": "ENST00000415458.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 618,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000436733.5",
"gene_hgnc_id": 994,
"gene_symbol": "BCL2L11",
"hgvs_c": "n.82C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000403727.1",
"strand": true,
"transcript": "ENST00000436733.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 729,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000437029.5",
"gene_hgnc_id": 994,
"gene_symbol": "BCL2L11",
"hgvs_c": "n.82C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000412892.1",
"strand": true,
"transcript": "ENST00000437029.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 936,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000439718.1",
"gene_hgnc_id": 994,
"gene_symbol": "BCL2L11",
"hgvs_c": "n.82C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000411137.1",
"strand": true,
"transcript": "ENST00000439718.1",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 459,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000452231.5",
"gene_hgnc_id": 994,
"gene_symbol": "BCL2L11",
"hgvs_c": "n.82C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000391292.1",
"strand": true,
"transcript": "ENST00000452231.5",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 292,
"aa_ref": "L",
"aa_start": 122,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5171,
"cdna_start": 443,
"cds_end": null,
"cds_length": 879,
"cds_start": 364,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000393252.4",
"gene_hgnc_id": 994,
"gene_symbol": "BCL2L11",
"hgvs_c": "c.364C>G",
"hgvs_p": "p.Leu122Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000376941.4",
"strand": true,
"transcript": "ENST00000393252.4",
"transcript_support_level": 2
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 198,
"aa_ref": "L",
"aa_start": 28,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5068,
"cdna_start": 340,
"cds_end": null,
"cds_length": 597,
"cds_start": 82,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000715206.1",
"gene_hgnc_id": 994,
"gene_symbol": "BCL2L11",
"hgvs_c": "c.82C>G",
"hgvs_p": "p.Leu28Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000520413.1",
"strand": true,
"transcript": "ENST00000715206.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 172,
"aa_ref": "L",
"aa_start": 28,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5231,
"cdna_start": 370,
"cds_end": null,
"cds_length": 519,
"cds_start": 82,
"consequences": [
"missense_variant"
],
"exon_count": 5,
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"exon_rank_end": null,
"feature": "NM_001204108.1",
"gene_hgnc_id": 994,
"gene_symbol": "BCL2L11",
"hgvs_c": "c.82C>G",
"hgvs_p": "p.Leu28Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001191037.1",
"strand": true,
"transcript": "NM_001204108.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 169,
"aa_ref": "L",
"aa_start": 28,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5223,
"cdna_start": 370,
"cds_end": null,
"cds_length": 510,
"cds_start": 82,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_138622.4",
"gene_hgnc_id": 994,
"gene_symbol": "BCL2L11",
"hgvs_c": "c.82C>G",
"hgvs_p": "p.Leu28Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_619528.1",
"strand": true,
"transcript": "NM_138622.4",
"transcript_support_level": null
},
{
"aa_alt": "V",
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"aa_length": 140,
"aa_ref": "L",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5119,
"cdna_start": 370,
"cds_end": null,
"cds_length": 423,
"cds_start": 82,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001204109.2",
"gene_hgnc_id": 994,
"gene_symbol": "BCL2L11",
"hgvs_c": "c.82C>G",
"hgvs_p": "p.Leu28Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001191038.1",
"strand": true,
"transcript": "NM_001204109.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 138,
"aa_ref": "L",
"aa_start": 28,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4918,
"cdna_start": 370,
"cds_end": null,
"cds_length": 417,
"cds_start": 82,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_006538.5",
"gene_hgnc_id": 994,
"gene_symbol": "BCL2L11",
"hgvs_c": "c.82C>G",
"hgvs_p": "p.Leu28Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_006529.1",
"strand": true,
"transcript": "NM_006538.5",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 138,
"aa_ref": "L",
"aa_start": 28,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1522,
"cdna_start": 370,
"cds_end": null,
"cds_length": 417,
"cds_start": 82,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000308659.12",
"gene_hgnc_id": 994,
"gene_symbol": "BCL2L11",
"hgvs_c": "c.82C>G",
"hgvs_p": "p.Leu28Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000309226.8",
"strand": true,
"transcript": "ENST00000308659.12",
"transcript_support_level": 2
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 135,
"aa_ref": "L",
"aa_start": 28,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5131,
"cdna_start": 370,
"cds_end": null,
"cds_length": 408,
"cds_start": 82,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_138624.4",
"gene_hgnc_id": 994,
"gene_symbol": "BCL2L11",
"hgvs_c": "c.82C>G",
"hgvs_p": "p.Leu28Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_619530.1",
"strand": true,
"transcript": "NM_138624.4",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 135,
"aa_ref": "L",
"aa_start": 28,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4994,
"cdna_start": 370,
"cds_end": null,
"cds_length": 408,
"cds_start": 82,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_138626.4",
"gene_hgnc_id": 994,
"gene_symbol": "BCL2L11",
"hgvs_c": "c.82C>G",
"hgvs_p": "p.Leu28Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_619532.1",
"strand": true,
"transcript": "NM_138626.4",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 121,
"aa_ref": "L",
"aa_start": 28,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 572,
"cdna_start": 287,
"cds_end": null,
"cds_length": 367,
"cds_start": 82,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000432179.1",
"gene_hgnc_id": 994,
"gene_symbol": "BCL2L11",
"hgvs_c": "c.82C>G",
"hgvs_p": "p.Leu28Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000411870.1",
"strand": true,
"transcript": "ENST00000432179.1",
"transcript_support_level": 4
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 112,
"aa_ref": "L",
"aa_start": 28,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 722,
"cdna_start": 370,
"cds_end": null,
"cds_length": 339,
"cds_start": 82,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_207002.3",
"gene_hgnc_id": 994,
"gene_symbol": "BCL2L11",
"hgvs_c": "c.82C>G",
"hgvs_p": "p.Leu28Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
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