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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: 3-184158724-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=184158724&ref=A&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": "DVL3",
"hgnc_id": 3087,
"hgvs_c": "c.161+2928A>G",
"hgvs_p": null,
"inheritance_mode": "AD",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_004423.4",
"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": -0.8,
"chr": "3",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.800000011920929,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 716,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5269,
"cdna_start": null,
"cds_end": null,
"cds_length": 2151,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_004423.4",
"gene_hgnc_id": 3087,
"gene_symbol": "DVL3",
"hgvs_c": "c.161+2928A>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000313143.9",
"protein_coding": true,
"protein_id": "NP_004414.3",
"strand": true,
"transcript": "NM_004423.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 716,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5269,
"cdna_start": null,
"cds_end": null,
"cds_length": 2151,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000313143.9",
"gene_hgnc_id": 3087,
"gene_symbol": "DVL3",
"hgvs_c": "c.161+2928A>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_004423.4",
"protein_coding": true,
"protein_id": "ENSP00000316054.3",
"strand": true,
"transcript": "ENST00000313143.9",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 744,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2436,
"cdna_start": null,
"cds_end": null,
"cds_length": 2235,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000867766.1",
"gene_hgnc_id": 3087,
"gene_symbol": "DVL3",
"hgvs_c": "c.161+2928A>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000537825.1",
"strand": true,
"transcript": "ENST00000867766.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 726,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2478,
"cdna_start": null,
"cds_end": null,
"cds_length": 2181,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000867764.1",
"gene_hgnc_id": 3087,
"gene_symbol": "DVL3",
"hgvs_c": "c.161+2928A>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000537823.1",
"strand": true,
"transcript": "ENST00000867764.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 726,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2776,
"cdna_start": null,
"cds_end": null,
"cds_length": 2181,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000945025.1",
"gene_hgnc_id": 3087,
"gene_symbol": "DVL3",
"hgvs_c": "c.161+2928A>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615084.1",
"strand": true,
"transcript": "ENST00000945025.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 722,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2370,
"cdna_start": null,
"cds_end": null,
"cds_length": 2169,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000867765.1",
"gene_hgnc_id": 3087,
"gene_symbol": "DVL3",
"hgvs_c": "c.161+2928A>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000537824.1",
"strand": true,
"transcript": "ENST00000867765.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 720,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2596,
"cdna_start": null,
"cds_end": null,
"cds_length": 2163,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000945032.1",
"gene_hgnc_id": 3087,
"gene_symbol": "DVL3",
"hgvs_c": "c.161+2928A>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615091.1",
"strand": true,
"transcript": "ENST00000945032.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 714,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2324,
"cdna_start": null,
"cds_end": null,
"cds_length": 2145,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000921745.1",
"gene_hgnc_id": 3087,
"gene_symbol": "DVL3",
"hgvs_c": "c.161+2928A>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000591804.1",
"strand": true,
"transcript": "ENST00000921745.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 714,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2582,
"cdna_start": null,
"cds_end": null,
"cds_length": 2145,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000945031.1",
"gene_hgnc_id": 3087,
"gene_symbol": "DVL3",
"hgvs_c": "c.161+2928A>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615090.1",
"strand": true,
"transcript": "ENST00000945031.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 714,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2446,
"cdna_start": null,
"cds_end": null,
"cds_length": 2145,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000945034.1",
"gene_hgnc_id": 3087,
"gene_symbol": "DVL3",
"hgvs_c": "c.161+2928A>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615093.1",
"strand": true,
"transcript": "ENST00000945034.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 15,
"exon_rank": null,
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"feature": "ENST00000867760.1",
"gene_hgnc_id": 3087,
"gene_symbol": "DVL3",
"hgvs_c": "c.161+2928A>G",
"hgvs_p": null,
"intron_rank": 1,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000537819.1",
"strand": true,
"transcript": "ENST00000867760.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
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"cds_end": null,
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"consequences": [
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],
"exon_count": 15,
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"feature": "ENST00000921743.1",
"gene_hgnc_id": 3087,
"gene_symbol": "DVL3",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000591802.1",
"strand": true,
"transcript": "ENST00000921743.1",
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},
{
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],
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"feature": "ENST00000867762.1",
"gene_hgnc_id": 3087,
"gene_symbol": "DVL3",
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"protein_coding": true,
"protein_id": "ENSP00000537821.1",
"strand": true,
"transcript": "ENST00000867762.1",
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},
{
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"biotype": "protein_coding",
"canonical": false,
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"cdna_start": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 15,
"exon_rank": null,
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"feature": "ENST00000431765.6",
"gene_hgnc_id": 3087,
"gene_symbol": "DVL3",
"hgvs_c": "c.161+2928A>G",
"hgvs_p": null,
"intron_rank": 1,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000405885.1",
"strand": true,
"transcript": "ENST00000431765.6",
"transcript_support_level": 5
},
{
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"consequences": [
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],
"exon_count": 14,
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"feature": "ENST00000945030.1",
"gene_hgnc_id": 3087,
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"hgvs_c": "c.161+2928A>G",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000615089.1",
"strand": true,
"transcript": "ENST00000945030.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_end": null,
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"cds_end": null,
"cds_length": 2019,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
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"feature": "ENST00000867759.1",
"gene_hgnc_id": 3087,
"gene_symbol": "DVL3",
"hgvs_c": "c.161+2928A>G",
"hgvs_p": null,
"intron_rank": 1,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000537818.1",
"strand": true,
"transcript": "ENST00000867759.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5128,
"cdna_start": null,
"cds_end": null,
"cds_length": 2001,
"cds_start": null,
"consequences": [
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],
"exon_count": 14,
"exon_rank": null,
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"feature": "ENST00000867758.1",
"gene_hgnc_id": 3087,
"gene_symbol": "DVL3",
"hgvs_c": "c.161+2928A>G",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000537817.1",
"strand": true,
"transcript": "ENST00000867758.1",
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},
{
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"consequences": [
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],
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"feature": "ENST00000945028.1",
"gene_hgnc_id": 3087,
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"hgvs_c": "c.161+2928A>G",
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"protein_id": "ENSP00000615087.1",
"strand": true,
"transcript": "ENST00000945028.1",
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},
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"consequences": [
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],
"exon_count": 14,
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"feature": "ENST00000945033.1",
"gene_hgnc_id": 3087,
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"protein_coding": true,
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"strand": true,
"transcript": "ENST00000945033.1",
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},
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
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"feature": "ENST00000945026.1",
"gene_hgnc_id": 3087,
"gene_symbol": "DVL3",
"hgvs_c": "c.161+2928A>G",
"hgvs_p": null,
"intron_rank": 1,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615085.1",
"strand": true,
"transcript": "ENST00000945026.1",
"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": 1980,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000921744.1",
"gene_hgnc_id": 3087,
"gene_symbol": "DVL3",
"hgvs_c": "c.161+2928A>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000591803.1",
"strand": true,
"transcript": "ENST00000921744.1",
"transcript_support_level": null
},
{
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