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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: 3-9475877-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=9475877&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "SETD5",
"hgnc_id": 25566,
"hgvs_c": "c.4229C>A",
"hgvs_p": "p.Thr1410Asn",
"inheritance_mode": "AD",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_001437635.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.1239,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.17,
"chr": "3",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.18134954571723938,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1442,
"aa_ref": "T",
"aa_start": 1372,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6931,
"cdna_start": 4654,
"cds_end": null,
"cds_length": 4329,
"cds_start": 4115,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "NM_001080517.3",
"gene_hgnc_id": 25566,
"gene_symbol": "SETD5",
"hgvs_c": "c.4115C>A",
"hgvs_p": "p.Thr1372Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000402198.7",
"protein_coding": true,
"protein_id": "NP_001073986.1",
"strand": true,
"transcript": "NM_001080517.3",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1442,
"aa_ref": "T",
"aa_start": 1372,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6931,
"cdna_start": 4654,
"cds_end": null,
"cds_length": 4329,
"cds_start": 4115,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000402198.7",
"gene_hgnc_id": 25566,
"gene_symbol": "SETD5",
"hgvs_c": "c.4115C>A",
"hgvs_p": "p.Thr1372Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001080517.3",
"protein_coding": true,
"protein_id": "ENSP00000385852.2",
"strand": true,
"transcript": "ENST00000402198.7",
"transcript_support_level": 5
},
{
"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": 4861,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000493918.5",
"gene_hgnc_id": 25566,
"gene_symbol": "SETD5",
"hgvs_c": "n.4279C>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000493918.5",
"transcript_support_level": 1
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1480,
"aa_ref": "T",
"aa_start": 1410,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7037,
"cdna_start": 4768,
"cds_end": null,
"cds_length": 4443,
"cds_start": 4229,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "NM_001437635.1",
"gene_hgnc_id": 25566,
"gene_symbol": "SETD5",
"hgvs_c": "c.4229C>A",
"hgvs_p": "p.Thr1410Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001424564.1",
"strand": true,
"transcript": "NM_001437635.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1474,
"aa_ref": "T",
"aa_start": 1404,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7019,
"cdna_start": 4750,
"cds_end": null,
"cds_length": 4425,
"cds_start": 4211,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "NM_001437633.1",
"gene_hgnc_id": 25566,
"gene_symbol": "SETD5",
"hgvs_c": "c.4211C>A",
"hgvs_p": "p.Thr1404Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001424562.1",
"strand": true,
"transcript": "NM_001437633.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1474,
"aa_ref": "T",
"aa_start": 1404,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5624,
"cdna_start": 4484,
"cds_end": null,
"cds_length": 4425,
"cds_start": 4211,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000682536.1",
"gene_hgnc_id": 25566,
"gene_symbol": "SETD5",
"hgvs_c": "c.4211C>A",
"hgvs_p": "p.Thr1404Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000507956.1",
"strand": true,
"transcript": "ENST00000682536.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1466,
"aa_ref": "T",
"aa_start": 1396,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5334,
"cdna_start": 4733,
"cds_end": null,
"cds_length": 4401,
"cds_start": 4187,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000866906.1",
"gene_hgnc_id": 25566,
"gene_symbol": "SETD5",
"hgvs_c": "c.4187C>A",
"hgvs_p": "p.Thr1396Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536965.1",
"strand": true,
"transcript": "ENST00000866906.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1461,
"aa_ref": "T",
"aa_start": 1391,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7515,
"cdna_start": 5246,
"cds_end": null,
"cds_length": 4386,
"cds_start": 4172,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "NM_001437643.1",
"gene_hgnc_id": 25566,
"gene_symbol": "SETD5",
"hgvs_c": "c.4172C>A",
"hgvs_p": "p.Thr1391Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001424572.1",
"strand": true,
"transcript": "NM_001437643.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1461,
"aa_ref": "T",
"aa_start": 1391,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6463,
"cdna_start": 4186,
"cds_end": null,
"cds_length": 4386,
"cds_start": 4172,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000407969.5",
"gene_hgnc_id": 25566,
"gene_symbol": "SETD5",
"hgvs_c": "c.4172C>A",
"hgvs_p": "p.Thr1391Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000384114.1",
"strand": true,
"transcript": "ENST00000407969.5",
"transcript_support_level": 5
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1460,
"aa_ref": "T",
"aa_start": 1390,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5229,
"cdna_start": 4647,
"cds_end": null,
"cds_length": 4383,
"cds_start": 4169,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000866907.1",
"gene_hgnc_id": 25566,
"gene_symbol": "SETD5",
"hgvs_c": "c.4169C>A",
"hgvs_p": "p.Thr1390Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536966.1",
"strand": true,
"transcript": "ENST00000866907.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1455,
"aa_ref": "T",
"aa_start": 1385,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6962,
"cdna_start": 4693,
"cds_end": null,
"cds_length": 4368,
"cds_start": 4154,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "NM_001437701.1",
"gene_hgnc_id": 25566,
"gene_symbol": "SETD5",
"hgvs_c": "c.4154C>A",
"hgvs_p": "p.Thr1385Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001424630.1",
"strand": true,
"transcript": "NM_001437701.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1455,
"aa_ref": "T",
"aa_start": 1385,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5300,
"cdna_start": 4699,
"cds_end": null,
"cds_length": 4368,
"cds_start": 4154,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000866905.1",
"gene_hgnc_id": 25566,
"gene_symbol": "SETD5",
"hgvs_c": "c.4154C>A",
"hgvs_p": "p.Thr1385Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536964.1",
"strand": true,
"transcript": "ENST00000866905.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1442,
"aa_ref": "T",
"aa_start": 1372,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6582,
"cdna_start": 4305,
"cds_end": null,
"cds_length": 4329,
"cds_start": 4115,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000406341.5",
"gene_hgnc_id": 25566,
"gene_symbol": "SETD5",
"hgvs_c": "c.4115C>A",
"hgvs_p": "p.Thr1372Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000383939.1",
"strand": true,
"transcript": "ENST00000406341.5",
"transcript_support_level": 5
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1344,
"aa_ref": "T",
"aa_start": 1274,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7187,
"cdna_start": 4918,
"cds_end": null,
"cds_length": 4035,
"cds_start": 3821,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "NM_001292043.2",
"gene_hgnc_id": 25566,
"gene_symbol": "SETD5",
"hgvs_c": "c.3821C>A",
"hgvs_p": "p.Thr1274Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001278972.1",
"strand": true,
"transcript": "NM_001292043.2",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1344,
"aa_ref": "T",
"aa_start": 1274,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7228,
"cdna_start": 4959,
"cds_end": null,
"cds_length": 4035,
"cds_start": 3821,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "NM_001349451.2",
"gene_hgnc_id": 25566,
"gene_symbol": "SETD5",
"hgvs_c": "c.3821C>A",
"hgvs_p": "p.Thr1274Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001336380.1",
"strand": true,
"transcript": "NM_001349451.2",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1500,
"aa_ref": "T",
"aa_start": 1430,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11637,
"cdna_start": 9360,
"cds_end": null,
"cds_length": 4503,
"cds_start": 4289,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "XM_047448466.1",
"gene_hgnc_id": 25566,
"gene_symbol": "SETD5",
"hgvs_c": "c.4289C>A",
"hgvs_p": "p.Thr1430Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047304422.1",
"strand": true,
"transcript": "XM_047448466.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1500,
"aa_ref": "T",
"aa_start": 1430,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10609,
"cdna_start": 8332,
"cds_end": null,
"cds_length": 4503,
"cds_start": 4289,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "XM_047448467.1",
"gene_hgnc_id": 25566,
"gene_symbol": "SETD5",
"hgvs_c": "c.4289C>A",
"hgvs_p": "p.Thr1430Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047304423.1",
"strand": true,
"transcript": "XM_047448467.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1500,
"aa_ref": "T",
"aa_start": 1430,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12577,
"cdna_start": 10300,
"cds_end": null,
"cds_length": 4503,
"cds_start": 4289,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "XM_047448468.1",
"gene_hgnc_id": 25566,
"gene_symbol": "SETD5",
"hgvs_c": "c.4289C>A",
"hgvs_p": "p.Thr1430Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047304424.1",
"strand": true,
"transcript": "XM_047448468.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1500,
"aa_ref": "T",
"aa_start": 1430,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8500,
"cdna_start": 6223,
"cds_end": null,
"cds_length": 4503,
"cds_start": 4289,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "XM_047448469.1",
"gene_hgnc_id": 25566,
"gene_symbol": "SETD5",
"hgvs_c": "c.4289C>A",
"hgvs_p": "p.Thr1430Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047304425.1",
"strand": true,
"transcript": "XM_047448469.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1500,
"aa_ref": "T",
"aa_start": 1430,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10162,
"cdna_start": 7885,
"cds_end": null,
"cds_length": 4503,
"cds_start": 4289,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "XM_047448470.1",
"gene_hgnc_id": 25566,
"gene_symbol": "SETD5",
"hgvs_c": "c.4289C>A",
"hgvs_p": "p.Thr1430Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047304426.1",
"strand": true,
"transcript": "XM_047448470.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1500,
"aa_ref": "T",
"aa_start": 1430,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10861,
"cdna_start": 8584,
"cds_end": null,
"cds_length": 4503,
"cds_start": 4289,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 24,
"exon_rank_end": null,
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