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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: 17-63688840-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=63688840&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "MAP3K3",
"hgnc_id": 6855,
"hgvs_c": "c.923G>A",
"hgvs_p": "p.Arg308Gln",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -4,
"transcript": "NM_203351.3",
"verdict": "Likely_benign"
},
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"intron_variant"
],
"gene_symbol": "LOC101927898",
"hgnc_id": null,
"hgvs_c": "n.608+253C>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 2,
"transcript": "XR_243740.4",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"intron_variant"
],
"gene_symbol": "STRADA",
"hgnc_id": 30172,
"hgvs_c": "n.*392+253C>T",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 2,
"transcript": "ENST00000640870.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BS2",
"acmg_score": -4,
"allele_count_reference_population": 19,
"alphamissense_prediction": null,
"alphamissense_score": 0.6937,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0.06,
"chr": "17",
"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": 0.5723581314086914,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 626,
"aa_ref": "R",
"aa_start": 277,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4752,
"cdna_start": 1173,
"cds_end": null,
"cds_length": 1881,
"cds_start": 830,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_002401.5",
"gene_hgnc_id": 6855,
"gene_symbol": "MAP3K3",
"hgvs_c": "c.830G>A",
"hgvs_p": "p.Arg277Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000361733.8",
"protein_coding": true,
"protein_id": "NP_002392.2",
"strand": true,
"transcript": "NM_002401.5",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 626,
"aa_ref": "R",
"aa_start": 277,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4752,
"cdna_start": 1173,
"cds_end": null,
"cds_length": 1881,
"cds_start": 830,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000361733.8",
"gene_hgnc_id": 6855,
"gene_symbol": "MAP3K3",
"hgvs_c": "c.830G>A",
"hgvs_p": "p.Arg277Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_002401.5",
"protein_coding": true,
"protein_id": "ENSP00000354485.4",
"strand": true,
"transcript": "ENST00000361733.8",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 657,
"aa_ref": "R",
"aa_start": 308,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4818,
"cdna_start": 1241,
"cds_end": null,
"cds_length": 1974,
"cds_start": 923,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000361357.7",
"gene_hgnc_id": 6855,
"gene_symbol": "MAP3K3",
"hgvs_c": "c.923G>A",
"hgvs_p": "p.Arg308Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000354927.3",
"strand": true,
"transcript": "ENST00000361357.7",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 657,
"aa_ref": "R",
"aa_start": 308,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3352,
"cdna_start": 989,
"cds_end": null,
"cds_length": 1974,
"cds_start": 923,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000579585.5",
"gene_hgnc_id": 6855,
"gene_symbol": "MAP3K3",
"hgvs_c": "c.923G>A",
"hgvs_p": "p.Arg308Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000461988.1",
"strand": true,
"transcript": "ENST00000579585.5",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 653,
"aa_ref": "R",
"aa_start": 304,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2480,
"cdna_start": 1246,
"cds_end": null,
"cds_length": 1962,
"cds_start": 911,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000584573.5",
"gene_hgnc_id": 6855,
"gene_symbol": "MAP3K3",
"hgvs_c": "c.911G>A",
"hgvs_p": "p.Arg304Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000464130.1",
"strand": true,
"transcript": "ENST00000584573.5",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 622,
"aa_ref": "R",
"aa_start": 273,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2016,
"cdna_start": 868,
"cds_end": null,
"cds_length": 1869,
"cds_start": 818,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000577395.5",
"gene_hgnc_id": 6855,
"gene_symbol": "MAP3K3",
"hgvs_c": "c.818G>A",
"hgvs_p": "p.Arg273Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000462086.1",
"strand": true,
"transcript": "ENST00000577395.5",
"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": 2024,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 16,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000577597.5",
"gene_hgnc_id": 6855,
"gene_symbol": "MAP3K3",
"hgvs_c": "n.*655G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000462917.1",
"strand": true,
"transcript": "ENST00000577597.5",
"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": 2024,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 16,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000577597.5",
"gene_hgnc_id": 6855,
"gene_symbol": "MAP3K3",
"hgvs_c": "n.*655G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000462917.1",
"strand": true,
"transcript": "ENST00000577597.5",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 657,
"aa_ref": "R",
"aa_start": 308,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4845,
"cdna_start": 1266,
"cds_end": null,
"cds_length": 1974,
"cds_start": 923,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_203351.3",
"gene_hgnc_id": 6855,
"gene_symbol": "MAP3K3",
"hgvs_c": "c.923G>A",
"hgvs_p": "p.Arg308Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_976226.1",
"strand": true,
"transcript": "NM_203351.3",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 653,
"aa_ref": "R",
"aa_start": 304,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4833,
"cdna_start": 1254,
"cds_end": null,
"cds_length": 1962,
"cds_start": 911,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001363768.2",
"gene_hgnc_id": 6855,
"gene_symbol": "MAP3K3",
"hgvs_c": "c.911G>A",
"hgvs_p": "p.Arg304Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001350697.1",
"strand": true,
"transcript": "NM_001363768.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 633,
"aa_ref": "R",
"aa_start": 284,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3611,
"cdna_start": 1230,
"cds_end": null,
"cds_length": 1902,
"cds_start": 851,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000963889.1",
"gene_hgnc_id": 6855,
"gene_symbol": "MAP3K3",
"hgvs_c": "c.851G>A",
"hgvs_p": "p.Arg284Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000633948.1",
"strand": true,
"transcript": "ENST00000963889.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 629,
"aa_ref": "R",
"aa_start": 280,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3553,
"cdna_start": 1172,
"cds_end": null,
"cds_length": 1890,
"cds_start": 839,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000963891.1",
"gene_hgnc_id": 6855,
"gene_symbol": "MAP3K3",
"hgvs_c": "c.839G>A",
"hgvs_p": "p.Arg280Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000633950.1",
"strand": true,
"transcript": "ENST00000963891.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 622,
"aa_ref": "R",
"aa_start": 273,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4740,
"cdna_start": 1161,
"cds_end": null,
"cds_length": 1869,
"cds_start": 818,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001330431.2",
"gene_hgnc_id": 6855,
"gene_symbol": "MAP3K3",
"hgvs_c": "c.818G>A",
"hgvs_p": "p.Arg273Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001317360.1",
"strand": true,
"transcript": "NM_001330431.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 621,
"aa_ref": "R",
"aa_start": 273,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3506,
"cdna_start": 1151,
"cds_end": null,
"cds_length": 1866,
"cds_start": 818,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000963893.1",
"gene_hgnc_id": 6855,
"gene_symbol": "MAP3K3",
"hgvs_c": "c.818G>A",
"hgvs_p": "p.Arg273Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000633952.1",
"strand": true,
"transcript": "ENST00000963893.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 590,
"aa_ref": "R",
"aa_start": 273,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3422,
"cdna_start": 1137,
"cds_end": null,
"cds_length": 1773,
"cds_start": 818,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000963892.1",
"gene_hgnc_id": 6855,
"gene_symbol": "MAP3K3",
"hgvs_c": "c.818G>A",
"hgvs_p": "p.Arg273Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000633951.1",
"strand": true,
"transcript": "ENST00000963892.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 575,
"aa_ref": "R",
"aa_start": 226,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3393,
"cdna_start": 1012,
"cds_end": null,
"cds_length": 1728,
"cds_start": 677,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000963890.1",
"gene_hgnc_id": 6855,
"gene_symbol": "MAP3K3",
"hgvs_c": "c.677G>A",
"hgvs_p": "p.Arg226Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000633949.1",
"strand": true,
"transcript": "ENST00000963890.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 537,
"aa_ref": "R",
"aa_start": 188,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2341,
"cdna_start": 906,
"cds_end": null,
"cds_length": 1614,
"cds_start": 563,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000963894.1",
"gene_hgnc_id": 6855,
"gene_symbol": "MAP3K3",
"hgvs_c": "c.563G>A",
"hgvs_p": "p.Arg188Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000633953.1",
"strand": true,
"transcript": "ENST00000963894.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 532,
"aa_ref": "R",
"aa_start": 308,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4667,
"cdna_start": 1266,
"cds_end": null,
"cds_length": 1599,
"cds_start": 923,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "XM_005257378.3",
"gene_hgnc_id": 6855,
"gene_symbol": "MAP3K3",
"hgvs_c": "c.923G>A",
"hgvs_p": "p.Arg308Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005257435.1",
"strand": true,
"transcript": "XM_005257378.3",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 528,
"aa_ref": "R",
"aa_start": 304,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4655,
"cdna_start": 1254,
"cds_end": null,
"cds_length": 1587,
"cds_start": 911,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "XM_047436084.1",
"gene_hgnc_id": 6855,
"gene_symbol": "MAP3K3",
"hgvs_c": "c.911G>A",
"hgvs_p": "p.Arg304Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047292040.1",
"strand": true,
"transcript": "XM_047436084.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 501,
"aa_ref": "R",
"aa_start": 277,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4574,
"cdna_start": 1173,
"cds_end": null,
"cds_length": 1506,
"cds_start": 830,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "XM_047436085.1",
"gene_hgnc_id": 6855,
"gene_symbol": "MAP3K3",
"hgvs_c": "c.830G>A",
"hgvs_p": "p.Arg277Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
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