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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: 11-8696435-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=8696435&ref=C&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": "DENND2B",
"hgnc_id": 11350,
"hgvs_c": "c.3284G>C",
"hgvs_p": "p.Arg1095Pro",
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_005418.4",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000254665",
"hgnc_id": null,
"hgvs_c": "n.605-33C>G",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 2,
"transcript": "ENST00000529883.1",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"intron_variant"
],
"gene_symbol": "RPL27A",
"hgnc_id": 10329,
"hgvs_c": "n.174+7132C>G",
"hgvs_p": null,
"inheritance_mode": "AD",
"pathogenic_score": 2,
"score": 2,
"transcript": "ENST00000531102.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_score": 2,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": 0.6167,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0.01,
"chr": "11",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.5530272126197815,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1137,
"aa_ref": "R",
"aa_start": 1095,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4341,
"cdna_start": 3467,
"cds_end": null,
"cds_length": 3414,
"cds_start": 3284,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "NM_213618.2",
"gene_hgnc_id": 11350,
"gene_symbol": "DENND2B",
"hgvs_c": "c.3284G>C",
"hgvs_p": "p.Arg1095Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000313726.11",
"protein_coding": true,
"protein_id": "NP_998783.1",
"strand": false,
"transcript": "NM_213618.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1137,
"aa_ref": "R",
"aa_start": 1095,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4341,
"cdna_start": 3467,
"cds_end": null,
"cds_length": 3414,
"cds_start": 3284,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000313726.11",
"gene_hgnc_id": 11350,
"gene_symbol": "DENND2B",
"hgvs_c": "c.3284G>C",
"hgvs_p": "p.Arg1095Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_213618.2",
"protein_coding": true,
"protein_id": "ENSP00000319678.6",
"strand": false,
"transcript": "ENST00000313726.11",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1137,
"aa_ref": "R",
"aa_start": 1095,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4545,
"cdna_start": 3670,
"cds_end": null,
"cds_length": 3414,
"cds_start": 3284,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000534127.5",
"gene_hgnc_id": 11350,
"gene_symbol": "DENND2B",
"hgvs_c": "c.3284G>C",
"hgvs_p": "p.Arg1095Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000433528.1",
"strand": false,
"transcript": "ENST00000534127.5",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 717,
"aa_ref": "R",
"aa_start": 675,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3019,
"cdna_start": 2144,
"cds_end": null,
"cds_length": 2154,
"cds_start": 2024,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000526757.5",
"gene_hgnc_id": 11350,
"gene_symbol": "DENND2B",
"hgvs_c": "c.2024G>C",
"hgvs_p": "p.Arg675Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000435097.1",
"strand": false,
"transcript": "ENST00000526757.5",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 717,
"aa_ref": "R",
"aa_start": 675,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2679,
"cdna_start": 2549,
"cds_end": null,
"cds_length": 2154,
"cds_start": 2024,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000530438.5",
"gene_hgnc_id": 11350,
"gene_symbol": "DENND2B",
"hgvs_c": "c.2024G>C",
"hgvs_p": "p.Arg675Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000436802.1",
"strand": false,
"transcript": "ENST00000530438.5",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 328,
"aa_ref": "R",
"aa_start": 286,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1352,
"cdna_start": 1025,
"cds_end": null,
"cds_length": 987,
"cds_start": 857,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000534278.5",
"gene_hgnc_id": 11350,
"gene_symbol": "DENND2B",
"hgvs_c": "c.857G>C",
"hgvs_p": "p.Arg286Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000433349.1",
"strand": false,
"transcript": "ENST00000534278.5",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1157,
"aa_ref": "R",
"aa_start": 1115,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4400,
"cdna_start": 3526,
"cds_end": null,
"cds_length": 3474,
"cds_start": 3344,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000857974.1",
"gene_hgnc_id": 11350,
"gene_symbol": "DENND2B",
"hgvs_c": "c.3344G>C",
"hgvs_p": "p.Arg1115Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528033.1",
"strand": false,
"transcript": "ENST00000857974.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1149,
"aa_ref": "R",
"aa_start": 1107,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4372,
"cdna_start": 3498,
"cds_end": null,
"cds_length": 3450,
"cds_start": 3320,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000857975.1",
"gene_hgnc_id": 11350,
"gene_symbol": "DENND2B",
"hgvs_c": "c.3320G>C",
"hgvs_p": "p.Arg1107Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528034.1",
"strand": false,
"transcript": "ENST00000857975.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1137,
"aa_ref": "R",
"aa_start": 1095,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4617,
"cdna_start": 3743,
"cds_end": null,
"cds_length": 3414,
"cds_start": 3284,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "NM_001376495.1",
"gene_hgnc_id": 11350,
"gene_symbol": "DENND2B",
"hgvs_c": "c.3284G>C",
"hgvs_p": "p.Arg1095Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001363424.1",
"strand": false,
"transcript": "NM_001376495.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1137,
"aa_ref": "R",
"aa_start": 1095,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4443,
"cdna_start": 3569,
"cds_end": null,
"cds_length": 3414,
"cds_start": 3284,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "NM_001376496.1",
"gene_hgnc_id": 11350,
"gene_symbol": "DENND2B",
"hgvs_c": "c.3284G>C",
"hgvs_p": "p.Arg1095Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001363425.1",
"strand": false,
"transcript": "NM_001376496.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1137,
"aa_ref": "R",
"aa_start": 1095,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4340,
"cdna_start": 3466,
"cds_end": null,
"cds_length": 3414,
"cds_start": 3284,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "NM_001376497.1",
"gene_hgnc_id": 11350,
"gene_symbol": "DENND2B",
"hgvs_c": "c.3284G>C",
"hgvs_p": "p.Arg1095Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001363426.1",
"strand": false,
"transcript": "NM_001376497.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1137,
"aa_ref": "R",
"aa_start": 1095,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4544,
"cdna_start": 3670,
"cds_end": null,
"cds_length": 3414,
"cds_start": 3284,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "NM_005418.4",
"gene_hgnc_id": 11350,
"gene_symbol": "DENND2B",
"hgvs_c": "c.3284G>C",
"hgvs_p": "p.Arg1095Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_005409.3",
"strand": false,
"transcript": "NM_005418.4",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1137,
"aa_ref": "R",
"aa_start": 1095,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4405,
"cdna_start": 3522,
"cds_end": null,
"cds_length": 3414,
"cds_start": 3284,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000857949.1",
"gene_hgnc_id": 11350,
"gene_symbol": "DENND2B",
"hgvs_c": "c.3284G>C",
"hgvs_p": "p.Arg1095Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528008.1",
"strand": false,
"transcript": "ENST00000857949.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1137,
"aa_ref": "R",
"aa_start": 1095,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4334,
"cdna_start": 3465,
"cds_end": null,
"cds_length": 3414,
"cds_start": 3284,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000857950.1",
"gene_hgnc_id": 11350,
"gene_symbol": "DENND2B",
"hgvs_c": "c.3284G>C",
"hgvs_p": "p.Arg1095Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528009.1",
"strand": false,
"transcript": "ENST00000857950.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1137,
"aa_ref": "R",
"aa_start": 1095,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4533,
"cdna_start": 3659,
"cds_end": null,
"cds_length": 3414,
"cds_start": 3284,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000857952.1",
"gene_hgnc_id": 11350,
"gene_symbol": "DENND2B",
"hgvs_c": "c.3284G>C",
"hgvs_p": "p.Arg1095Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528011.1",
"strand": false,
"transcript": "ENST00000857952.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1137,
"aa_ref": "R",
"aa_start": 1095,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4346,
"cdna_start": 3473,
"cds_end": null,
"cds_length": 3414,
"cds_start": 3284,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000857956.1",
"gene_hgnc_id": 11350,
"gene_symbol": "DENND2B",
"hgvs_c": "c.3284G>C",
"hgvs_p": "p.Arg1095Pro",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528015.1",
"strand": false,
"transcript": "ENST00000857956.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
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"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4528,
"cdna_start": 3656,
"cds_end": null,
"cds_length": 3414,
"cds_start": 3284,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000857958.1",
"gene_hgnc_id": 11350,
"gene_symbol": "DENND2B",
"hgvs_c": "c.3284G>C",
"hgvs_p": "p.Arg1095Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528017.1",
"strand": false,
"transcript": "ENST00000857958.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
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"aa_length": 1137,
"aa_ref": "R",
"aa_start": 1095,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4350,
"cdna_start": 3478,
"cds_end": null,
"cds_length": 3414,
"cds_start": 3284,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000857959.1",
"gene_hgnc_id": 11350,
"gene_symbol": "DENND2B",
"hgvs_c": "c.3284G>C",
"hgvs_p": "p.Arg1095Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528018.1",
"strand": false,
"transcript": "ENST00000857959.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1137,
"aa_ref": "R",
"aa_start": 1095,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4617,
"cdna_start": 3745,
"cds_end": null,
"cds_length": 3414,
"cds_start": 3284,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000857960.1",
"gene_hgnc_id": 11350,
"gene_symbol": "DENND2B",
"hgvs_c": "c.3284G>C",
"hgvs_p": "p.Arg1095Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528019.1",
"strand": false,
"transcript": "ENST00000857960.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1137,
"aa_ref": "R",
"aa_start": 1095,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4857,
"cdna_start": 3986,
"cds_end": null,
"cds_length": 3414,
"cds_start": 3284,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000857961.1",
"gene_hgnc_id": 11350,
"gene_symbol": "DENND2B",
"hgvs_c": "c.3284G>C",
"hgvs_p": "p.Arg1095Pro",
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