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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: 1-153930581-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=153930581&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "DENND4B",
"hgnc_id": 29044,
"hgvs_c": "c.4336T>C",
"hgvs_p": "p.Phe1446Leu",
"inheritance_mode": "Unknown",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_001367466.1",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000284738",
"hgnc_id": null,
"hgvs_c": "n.861+1811A>G",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 2,
"transcript": "ENST00000641267.2",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"intron_variant"
],
"gene_symbol": "LOC101928059",
"hgnc_id": null,
"hgvs_c": "n.726+1811A>G",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 2,
"transcript": "XR_426845.5",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_score": 2,
"allele_count_reference_population": 1,
"alphamissense_prediction": "Pathogenic",
"alphamissense_score": 0.9629,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.18,
"chr": "1",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.48084044456481934,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1496,
"aa_ref": "F",
"aa_start": 1435,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5728,
"cdna_start": 4744,
"cds_end": null,
"cds_length": 4491,
"cds_start": 4303,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "NM_014856.3",
"gene_hgnc_id": 29044,
"gene_symbol": "DENND4B",
"hgvs_c": "c.4303T>C",
"hgvs_p": "p.Phe1435Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000361217.9",
"protein_coding": true,
"protein_id": "NP_055671.2",
"strand": false,
"transcript": "NM_014856.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1496,
"aa_ref": "F",
"aa_start": 1435,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5728,
"cdna_start": 4744,
"cds_end": null,
"cds_length": 4491,
"cds_start": 4303,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "ENST00000361217.9",
"gene_hgnc_id": 29044,
"gene_symbol": "DENND4B",
"hgvs_c": "c.4303T>C",
"hgvs_p": "p.Phe1435Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_014856.3",
"protein_coding": true,
"protein_id": "ENSP00000354597.4",
"strand": false,
"transcript": "ENST00000361217.9",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1507,
"aa_ref": "F",
"aa_start": 1446,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5432,
"cdna_start": 4448,
"cds_end": null,
"cds_length": 4524,
"cds_start": 4336,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "NM_001367466.1",
"gene_hgnc_id": 29044,
"gene_symbol": "DENND4B",
"hgvs_c": "c.4336T>C",
"hgvs_p": "p.Phe1446Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001354395.1",
"strand": false,
"transcript": "NM_001367466.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1497,
"aa_ref": "F",
"aa_start": 1436,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5625,
"cdna_start": 4642,
"cds_end": null,
"cds_length": 4494,
"cds_start": 4306,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "ENST00000877431.1",
"gene_hgnc_id": 29044,
"gene_symbol": "DENND4B",
"hgvs_c": "c.4306T>C",
"hgvs_p": "p.Phe1436Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000547490.1",
"strand": false,
"transcript": "ENST00000877431.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1497,
"aa_ref": "F",
"aa_start": 1436,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5702,
"cdna_start": 4718,
"cds_end": null,
"cds_length": 4494,
"cds_start": 4306,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "ENST00000912808.1",
"gene_hgnc_id": 29044,
"gene_symbol": "DENND4B",
"hgvs_c": "c.4306T>C",
"hgvs_p": "p.Phe1436Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000582867.1",
"strand": false,
"transcript": "ENST00000912808.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1496,
"aa_ref": "F",
"aa_start": 1435,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6395,
"cdna_start": 4774,
"cds_end": null,
"cds_length": 4491,
"cds_start": 4303,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "ENST00000877427.1",
"gene_hgnc_id": 29044,
"gene_symbol": "DENND4B",
"hgvs_c": "c.4303T>C",
"hgvs_p": "p.Phe1435Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000547486.1",
"strand": false,
"transcript": "ENST00000877427.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1496,
"aa_ref": "F",
"aa_start": 1435,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5594,
"cdna_start": 4610,
"cds_end": null,
"cds_length": 4491,
"cds_start": 4303,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "ENST00000912807.1",
"gene_hgnc_id": 29044,
"gene_symbol": "DENND4B",
"hgvs_c": "c.4303T>C",
"hgvs_p": "p.Phe1435Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000582866.1",
"strand": false,
"transcript": "ENST00000912807.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1496,
"aa_ref": "F",
"aa_start": 1435,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5755,
"cdna_start": 4789,
"cds_end": null,
"cds_length": 4491,
"cds_start": 4303,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "ENST00000912811.1",
"gene_hgnc_id": 29044,
"gene_symbol": "DENND4B",
"hgvs_c": "c.4303T>C",
"hgvs_p": "p.Phe1435Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000582870.1",
"strand": false,
"transcript": "ENST00000912811.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1455,
"aa_ref": "F",
"aa_start": 1394,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5539,
"cdna_start": 4561,
"cds_end": null,
"cds_length": 4368,
"cds_start": 4180,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000912810.1",
"gene_hgnc_id": 29044,
"gene_symbol": "DENND4B",
"hgvs_c": "c.4180T>C",
"hgvs_p": "p.Phe1394Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000582869.1",
"strand": false,
"transcript": "ENST00000912810.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1440,
"aa_ref": "F",
"aa_start": 1379,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5494,
"cdna_start": 4511,
"cds_end": null,
"cds_length": 4323,
"cds_start": 4135,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000877430.1",
"gene_hgnc_id": 29044,
"gene_symbol": "DENND4B",
"hgvs_c": "c.4135T>C",
"hgvs_p": "p.Phe1379Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000547489.1",
"strand": false,
"transcript": "ENST00000877430.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1424,
"aa_ref": "F",
"aa_start": 1363,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5528,
"cdna_start": 4546,
"cds_end": null,
"cds_length": 4275,
"cds_start": 4087,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000912806.1",
"gene_hgnc_id": 29044,
"gene_symbol": "DENND4B",
"hgvs_c": "c.4087T>C",
"hgvs_p": "p.Phe1363Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000582865.1",
"strand": false,
"transcript": "ENST00000912806.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1416,
"aa_ref": "F",
"aa_start": 1355,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5431,
"cdna_start": 4450,
"cds_end": null,
"cds_length": 4251,
"cds_start": 4063,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000877429.1",
"gene_hgnc_id": 29044,
"gene_symbol": "DENND4B",
"hgvs_c": "c.4063T>C",
"hgvs_p": "p.Phe1355Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000547488.1",
"strand": false,
"transcript": "ENST00000877429.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1388,
"aa_ref": "F",
"aa_start": 1327,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5378,
"cdna_start": 4394,
"cds_end": null,
"cds_length": 4167,
"cds_start": 3979,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "ENST00000877428.1",
"gene_hgnc_id": 29044,
"gene_symbol": "DENND4B",
"hgvs_c": "c.3979T>C",
"hgvs_p": "p.Phe1327Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000547487.1",
"strand": false,
"transcript": "ENST00000877428.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1319,
"aa_ref": "F",
"aa_start": 1258,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5152,
"cdna_start": 4170,
"cds_end": null,
"cds_length": 3960,
"cds_start": 3772,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000912809.1",
"gene_hgnc_id": 29044,
"gene_symbol": "DENND4B",
"hgvs_c": "c.3772T>C",
"hgvs_p": "p.Phe1258Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000582868.1",
"strand": false,
"transcript": "ENST00000912809.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1626,
"aa_ref": "F",
"aa_start": 1565,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5682,
"cdna_start": 4698,
"cds_end": null,
"cds_length": 4881,
"cds_start": 4693,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "XM_047435912.1",
"gene_hgnc_id": 29044,
"gene_symbol": "DENND4B",
"hgvs_c": "c.4693T>C",
"hgvs_p": "p.Phe1565Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047291868.1",
"strand": false,
"transcript": "XM_047435912.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1606,
"aa_ref": "F",
"aa_start": 1545,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5729,
"cdna_start": 4745,
"cds_end": null,
"cds_length": 4821,
"cds_start": 4633,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "XM_047435917.1",
"gene_hgnc_id": 29044,
"gene_symbol": "DENND4B",
"hgvs_c": "c.4633T>C",
"hgvs_p": "p.Phe1545Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047291873.1",
"strand": false,
"transcript": "XM_047435917.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1595,
"aa_ref": "F",
"aa_start": 1534,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5941,
"cdna_start": 4957,
"cds_end": null,
"cds_length": 4788,
"cds_start": 4600,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "XM_047435921.1",
"gene_hgnc_id": 29044,
"gene_symbol": "DENND4B",
"hgvs_c": "c.4600T>C",
"hgvs_p": "p.Phe1534Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047291877.1",
"strand": false,
"transcript": "XM_047435921.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1595,
"aa_ref": "F",
"aa_start": 1534,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5689,
"cdna_start": 4705,
"cds_end": null,
"cds_length": 4788,
"cds_start": 4600,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "XM_047435943.1",
"gene_hgnc_id": 29044,
"gene_symbol": "DENND4B",
"hgvs_c": "c.4600T>C",
"hgvs_p": "p.Phe1534Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047291899.1",
"strand": false,
"transcript": "XM_047435943.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1546,
"aa_ref": "F",
"aa_start": 1485,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5442,
"cdna_start": 4458,
"cds_end": null,
"cds_length": 4641,
"cds_start": 4453,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "XM_047435915.1",
"gene_hgnc_id": 29044,
"gene_symbol": "DENND4B",
"hgvs_c": "c.4453T>C",
"hgvs_p": "p.Phe1485Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047291871.1",
"strand": false,
"transcript": "XM_047435915.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1527,
"aa_ref": "F",
"aa_start": 1466,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5385,
"cdna_start": 4401,
"cds_end": null,
"cds_length": 4584,
"cds_start": 4396,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 27,
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{
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],
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]
}