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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: 20-35542591-CCT-TCG (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=35542591&ref=CCT&alt=TCG&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ERGIC3",
"hgnc_id": 15927,
"hgvs_c": "c.238_240delCCTinsTCG",
"hgvs_p": "p.Pro80Ser",
"inheritance_mode": "AR",
"pathogenic_score": 1,
"score": 1,
"transcript": "NM_198398.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3",
"acmg_score": 1,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "TCG",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "20",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 383,
"aa_ref": "P",
"aa_start": 80,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1302,
"cdna_start": 258,
"cds_end": null,
"cds_length": 1152,
"cds_start": 238,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_015966.3",
"gene_hgnc_id": 15927,
"gene_symbol": "ERGIC3",
"hgvs_c": "c.238_240delCCTinsTCG",
"hgvs_p": "p.Pro80Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000348547.7",
"protein_coding": true,
"protein_id": "NP_057050.1",
"strand": true,
"transcript": "NM_015966.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 383,
"aa_ref": "P",
"aa_start": 80,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1302,
"cdna_start": 258,
"cds_end": null,
"cds_length": 1152,
"cds_start": 238,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000348547.7",
"gene_hgnc_id": 15927,
"gene_symbol": "ERGIC3",
"hgvs_c": "c.238_240delCCTinsTCG",
"hgvs_p": "p.Pro80Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_015966.3",
"protein_coding": true,
"protein_id": "ENSP00000341358.2",
"strand": true,
"transcript": "ENST00000348547.7",
"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": 1632,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000447986.5",
"gene_hgnc_id": 15927,
"gene_symbol": "ERGIC3",
"hgvs_c": "n.267_269delCCTinsTCG",
"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": "ENST00000447986.5",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 423,
"aa_ref": "P",
"aa_start": 80,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1457,
"cdna_start": 294,
"cds_end": null,
"cds_length": 1272,
"cds_start": 238,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000955795.1",
"gene_hgnc_id": 15927,
"gene_symbol": "ERGIC3",
"hgvs_c": "c.238_240delCCTinsTCG",
"hgvs_p": "p.Pro80Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000625854.1",
"strand": true,
"transcript": "ENST00000955795.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 403,
"aa_ref": "P",
"aa_start": 80,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1365,
"cdna_start": 262,
"cds_end": null,
"cds_length": 1212,
"cds_start": 238,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000955798.1",
"gene_hgnc_id": 15927,
"gene_symbol": "ERGIC3",
"hgvs_c": "c.238_240delCCTinsTCG",
"hgvs_p": "p.Pro80Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000625857.1",
"strand": true,
"transcript": "ENST00000955798.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 401,
"aa_ref": "P",
"aa_start": 80,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1356,
"cdna_start": 258,
"cds_end": null,
"cds_length": 1206,
"cds_start": 238,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000931305.1",
"gene_hgnc_id": 15927,
"gene_symbol": "ERGIC3",
"hgvs_c": "c.238_240delCCTinsTCG",
"hgvs_p": "p.Pro80Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000601364.1",
"strand": true,
"transcript": "ENST00000931305.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 400,
"aa_ref": "P",
"aa_start": 80,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1388,
"cdna_start": 299,
"cds_end": null,
"cds_length": 1203,
"cds_start": 238,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000955794.1",
"gene_hgnc_id": 15927,
"gene_symbol": "ERGIC3",
"hgvs_c": "c.238_240delCCTinsTCG",
"hgvs_p": "p.Pro80Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000625853.1",
"strand": true,
"transcript": "ENST00000955794.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 398,
"aa_ref": "P",
"aa_start": 80,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1373,
"cdna_start": 285,
"cds_end": null,
"cds_length": 1197,
"cds_start": 238,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000955797.1",
"gene_hgnc_id": 15927,
"gene_symbol": "ERGIC3",
"hgvs_c": "c.238_240delCCTinsTCG",
"hgvs_p": "p.Pro80Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000625856.1",
"strand": true,
"transcript": "ENST00000955797.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 396,
"aa_ref": "P",
"aa_start": 78,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1235,
"cdna_start": 234,
"cds_end": null,
"cds_length": 1191,
"cds_start": 232,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000416206.5",
"gene_hgnc_id": 15927,
"gene_symbol": "ERGIC3",
"hgvs_c": "c.232_234delCCTinsTCG",
"hgvs_p": "p.Pro78Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000399124.1",
"strand": true,
"transcript": "ENST00000416206.5",
"transcript_support_level": 5
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 393,
"aa_ref": "P",
"aa_start": 80,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1350,
"cdna_start": 277,
"cds_end": null,
"cds_length": 1182,
"cds_start": 238,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000886988.1",
"gene_hgnc_id": 15927,
"gene_symbol": "ERGIC3",
"hgvs_c": "c.238_240delCCTinsTCG",
"hgvs_p": "p.Pro80Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000557047.1",
"strand": true,
"transcript": "ENST00000886988.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 391,
"aa_ref": "P",
"aa_start": 80,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1343,
"cdna_start": 276,
"cds_end": null,
"cds_length": 1176,
"cds_start": 238,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000886990.1",
"gene_hgnc_id": 15927,
"gene_symbol": "ERGIC3",
"hgvs_c": "c.238_240delCCTinsTCG",
"hgvs_p": "p.Pro80Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000557049.1",
"strand": true,
"transcript": "ENST00000886990.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 389,
"aa_ref": "P",
"aa_start": 80,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1338,
"cdna_start": 277,
"cds_end": null,
"cds_length": 1170,
"cds_start": 238,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000886989.1",
"gene_hgnc_id": 15927,
"gene_symbol": "ERGIC3",
"hgvs_c": "c.238_240delCCTinsTCG",
"hgvs_p": "p.Pro80Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000557048.1",
"strand": true,
"transcript": "ENST00000886989.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 388,
"aa_ref": "P",
"aa_start": 80,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1317,
"cdna_start": 258,
"cds_end": null,
"cds_length": 1167,
"cds_start": 238,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_198398.2",
"gene_hgnc_id": 15927,
"gene_symbol": "ERGIC3",
"hgvs_c": "c.238_240delCCTinsTCG",
"hgvs_p": "p.Pro80Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_938408.1",
"strand": true,
"transcript": "NM_198398.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 388,
"aa_ref": "P",
"aa_start": 80,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1357,
"cdna_start": 298,
"cds_end": null,
"cds_length": 1167,
"cds_start": 238,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000357394.8",
"gene_hgnc_id": 15927,
"gene_symbol": "ERGIC3",
"hgvs_c": "c.238_240delCCTinsTCG",
"hgvs_p": "p.Pro80Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000349970.4",
"strand": true,
"transcript": "ENST00000357394.8",
"transcript_support_level": 2
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 382,
"aa_ref": "P",
"aa_start": 80,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1299,
"cdna_start": 258,
"cds_end": null,
"cds_length": 1149,
"cds_start": 238,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000931304.1",
"gene_hgnc_id": 15927,
"gene_symbol": "ERGIC3",
"hgvs_c": "c.238_240delCCTinsTCG",
"hgvs_p": "p.Pro80Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000601363.1",
"strand": true,
"transcript": "ENST00000931304.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 377,
"aa_ref": "P",
"aa_start": 80,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1313,
"cdna_start": 288,
"cds_end": null,
"cds_length": 1134,
"cds_start": 238,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000886985.1",
"gene_hgnc_id": 15927,
"gene_symbol": "ERGIC3",
"hgvs_c": "c.238_240delCCTinsTCG",
"hgvs_p": "p.Pro80Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000557044.1",
"strand": true,
"transcript": "ENST00000886985.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 375,
"aa_ref": "P",
"aa_start": 80,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1274,
"cdna_start": 257,
"cds_end": null,
"cds_length": 1128,
"cds_start": 238,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000955799.1",
"gene_hgnc_id": 15927,
"gene_symbol": "ERGIC3",
"hgvs_c": "c.238_240delCCTinsTCG",
"hgvs_p": "p.Pro80Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000625858.1",
"strand": true,
"transcript": "ENST00000955799.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 372,
"aa_ref": "P",
"aa_start": 80,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1322,
"cdna_start": 312,
"cds_end": null,
"cds_length": 1119,
"cds_start": 238,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000955793.1",
"gene_hgnc_id": 15927,
"gene_symbol": "ERGIC3",
"hgvs_c": "c.238_240delCCTinsTCG",
"hgvs_p": "p.Pro80Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000625852.1",
"strand": true,
"transcript": "ENST00000955793.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 372,
"aa_ref": "P",
"aa_start": 80,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1298,
"cdna_start": 288,
"cds_end": null,
"cds_length": 1119,
"cds_start": 238,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000955796.1",
"gene_hgnc_id": 15927,
"gene_symbol": "ERGIC3",
"hgvs_c": "c.238_240delCCTinsTCG",
"hgvs_p": "p.Pro80Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000625855.1",
"strand": true,
"transcript": "ENST00000955796.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 371,
"aa_ref": "P",
"aa_start": 80,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1286,
"cdna_start": 278,
"cds_end": null,
"cds_length": 1116,
"cds_start": 238,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000886986.1",
"gene_hgnc_id": 15927,
"gene_symbol": "ERGIC3",
"hgvs_c": "c.238_240delCCTinsTCG",
"hgvs_p": "p.Pro80Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000557045.1",
"strand": true,
"transcript": "ENST00000886986.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 340,
"aa_ref": "P",
"aa_start": 80,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1220,
"cdna_start": 305,
"cds_end": null,
"cds_length": 1023,
"cds_start": 238,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000886984.1",
"gene_hgnc_id": 15927,
"gene_symbol": "ERGIC3",
"hgvs_c": "c.238_240delCCTinsTCG",
"hgvs_p": "p.Pro80Ser",
"intron_rank": null,
"intron_rank_end": null,
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