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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: 11-8702644-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=8702644&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 10,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "DENND2B",
"hgnc_id": 11350,
"hgvs_c": "c.2648T>C",
"hgvs_p": "p.Val883Ala",
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -10,
"transcript": "NM_005418.4",
"verdict": "Benign"
},
{
"benign_score": 10,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BS2"
],
"effects": [
"intron_variant"
],
"gene_symbol": "RPL27A",
"hgnc_id": 10329,
"hgvs_c": "n.175-12040A>G",
"hgvs_p": null,
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -10,
"transcript": "ENST00000531102.1",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BS2",
"acmg_score": -10,
"allele_count_reference_population": 9639,
"alphamissense_prediction": null,
"alphamissense_score": 0.3452,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.18,
"chr": "11",
"clinvar_classification": "Likely benign",
"clinvar_disease": "not provided",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.010188519954681396,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1137,
"aa_ref": "V",
"aa_start": 883,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4341,
"cdna_start": 2831,
"cds_end": null,
"cds_length": 3414,
"cds_start": 2648,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_213618.2",
"gene_hgnc_id": 11350,
"gene_symbol": "DENND2B",
"hgvs_c": "c.2648T>C",
"hgvs_p": "p.Val883Ala",
"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": "A",
"aa_end": null,
"aa_length": 1137,
"aa_ref": "V",
"aa_start": 883,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4341,
"cdna_start": 2831,
"cds_end": null,
"cds_length": 3414,
"cds_start": 2648,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000313726.11",
"gene_hgnc_id": 11350,
"gene_symbol": "DENND2B",
"hgvs_c": "c.2648T>C",
"hgvs_p": "p.Val883Ala",
"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": "A",
"aa_end": null,
"aa_length": 1137,
"aa_ref": "V",
"aa_start": 883,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4545,
"cdna_start": 3034,
"cds_end": null,
"cds_length": 3414,
"cds_start": 2648,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000534127.5",
"gene_hgnc_id": 11350,
"gene_symbol": "DENND2B",
"hgvs_c": "c.2648T>C",
"hgvs_p": "p.Val883Ala",
"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": "A",
"aa_end": null,
"aa_length": 717,
"aa_ref": "V",
"aa_start": 463,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3019,
"cdna_start": 1508,
"cds_end": null,
"cds_length": 2154,
"cds_start": 1388,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000526757.5",
"gene_hgnc_id": 11350,
"gene_symbol": "DENND2B",
"hgvs_c": "c.1388T>C",
"hgvs_p": "p.Val463Ala",
"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": "A",
"aa_end": null,
"aa_length": 717,
"aa_ref": "V",
"aa_start": 463,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2679,
"cdna_start": 1913,
"cds_end": null,
"cds_length": 2154,
"cds_start": 1388,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000530438.5",
"gene_hgnc_id": 11350,
"gene_symbol": "DENND2B",
"hgvs_c": "c.1388T>C",
"hgvs_p": "p.Val463Ala",
"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": "A",
"aa_end": null,
"aa_length": 328,
"aa_ref": "V",
"aa_start": 74,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1352,
"cdna_start": 389,
"cds_end": null,
"cds_length": 987,
"cds_start": 221,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000534278.5",
"gene_hgnc_id": 11350,
"gene_symbol": "DENND2B",
"hgvs_c": "c.221T>C",
"hgvs_p": "p.Val74Ala",
"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": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 1440,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000526701.5",
"gene_hgnc_id": 11350,
"gene_symbol": "DENND2B",
"hgvs_c": "n.1321T>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000526701.5",
"transcript_support_level": 1
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1157,
"aa_ref": "V",
"aa_start": 903,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4400,
"cdna_start": 2890,
"cds_end": null,
"cds_length": 3474,
"cds_start": 2708,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000857974.1",
"gene_hgnc_id": 11350,
"gene_symbol": "DENND2B",
"hgvs_c": "c.2708T>C",
"hgvs_p": "p.Val903Ala",
"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": "A",
"aa_end": null,
"aa_length": 1149,
"aa_ref": "V",
"aa_start": 895,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4372,
"cdna_start": 2862,
"cds_end": null,
"cds_length": 3450,
"cds_start": 2684,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000857975.1",
"gene_hgnc_id": 11350,
"gene_symbol": "DENND2B",
"hgvs_c": "c.2684T>C",
"hgvs_p": "p.Val895Ala",
"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": "A",
"aa_end": null,
"aa_length": 1137,
"aa_ref": "V",
"aa_start": 883,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4617,
"cdna_start": 3107,
"cds_end": null,
"cds_length": 3414,
"cds_start": 2648,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "NM_001376495.1",
"gene_hgnc_id": 11350,
"gene_symbol": "DENND2B",
"hgvs_c": "c.2648T>C",
"hgvs_p": "p.Val883Ala",
"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": "A",
"aa_end": null,
"aa_length": 1137,
"aa_ref": "V",
"aa_start": 883,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4443,
"cdna_start": 2933,
"cds_end": null,
"cds_length": 3414,
"cds_start": 2648,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NM_001376496.1",
"gene_hgnc_id": 11350,
"gene_symbol": "DENND2B",
"hgvs_c": "c.2648T>C",
"hgvs_p": "p.Val883Ala",
"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": "A",
"aa_end": null,
"aa_length": 1137,
"aa_ref": "V",
"aa_start": 883,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4340,
"cdna_start": 2830,
"cds_end": null,
"cds_length": 3414,
"cds_start": 2648,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_001376497.1",
"gene_hgnc_id": 11350,
"gene_symbol": "DENND2B",
"hgvs_c": "c.2648T>C",
"hgvs_p": "p.Val883Ala",
"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": "A",
"aa_end": null,
"aa_length": 1137,
"aa_ref": "V",
"aa_start": 883,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4544,
"cdna_start": 3034,
"cds_end": null,
"cds_length": 3414,
"cds_start": 2648,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NM_005418.4",
"gene_hgnc_id": 11350,
"gene_symbol": "DENND2B",
"hgvs_c": "c.2648T>C",
"hgvs_p": "p.Val883Ala",
"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": "A",
"aa_end": null,
"aa_length": 1137,
"aa_ref": "V",
"aa_start": 883,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4405,
"cdna_start": 2886,
"cds_end": null,
"cds_length": 3414,
"cds_start": 2648,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000857949.1",
"gene_hgnc_id": 11350,
"gene_symbol": "DENND2B",
"hgvs_c": "c.2648T>C",
"hgvs_p": "p.Val883Ala",
"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": "A",
"aa_end": null,
"aa_length": 1137,
"aa_ref": "V",
"aa_start": 883,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4334,
"cdna_start": 2829,
"cds_end": null,
"cds_length": 3414,
"cds_start": 2648,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000857950.1",
"gene_hgnc_id": 11350,
"gene_symbol": "DENND2B",
"hgvs_c": "c.2648T>C",
"hgvs_p": "p.Val883Ala",
"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": "A",
"aa_end": null,
"aa_length": 1137,
"aa_ref": "V",
"aa_start": 883,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4533,
"cdna_start": 3023,
"cds_end": null,
"cds_length": 3414,
"cds_start": 2648,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000857952.1",
"gene_hgnc_id": 11350,
"gene_symbol": "DENND2B",
"hgvs_c": "c.2648T>C",
"hgvs_p": "p.Val883Ala",
"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": "A",
"aa_end": null,
"aa_length": 1137,
"aa_ref": "V",
"aa_start": 883,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4346,
"cdna_start": 2837,
"cds_end": null,
"cds_length": 3414,
"cds_start": 2648,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000857956.1",
"gene_hgnc_id": 11350,
"gene_symbol": "DENND2B",
"hgvs_c": "c.2648T>C",
"hgvs_p": "p.Val883Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528015.1",
"strand": false,
"transcript": "ENST00000857956.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1137,
"aa_ref": "V",
"aa_start": 883,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4528,
"cdna_start": 3020,
"cds_end": null,
"cds_length": 3414,
"cds_start": 2648,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000857958.1",
"gene_hgnc_id": 11350,
"gene_symbol": "DENND2B",
"hgvs_c": "c.2648T>C",
"hgvs_p": "p.Val883Ala",
"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": "A",
"aa_end": null,
"aa_length": 1137,
"aa_ref": "V",
"aa_start": 883,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4350,
"cdna_start": 2842,
"cds_end": null,
"cds_length": 3414,
"cds_start": 2648,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000857959.1",
"gene_hgnc_id": 11350,
"gene_symbol": "DENND2B",
"hgvs_c": "c.2648T>C",
"hgvs_p": "p.Val883Ala",
"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": "A",
"aa_end": null,
"aa_length": 1137,
"aa_ref": "V",
"aa_start": 883,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4617,
"cdna_start": 3109,
"cds_end": null,
"cds_length": 3414,
"cds_start": 2648,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000857960.1",
"gene_hgnc_id": 11350,
"gene_symbol": "DENND2B",
"hgvs_c": "c.2648T>C",
"hgvs_p": "p.Val883Ala",
"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": "A",
"aa_end": null,
"aa_length": 1137,
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}