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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: 1-220796686-ACC-CCA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=220796686&ref=ACC&alt=CCA&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "MTARC1",
"hgnc_id": 26189,
"hgvs_c": "c.493_495delACCinsCCA",
"hgvs_p": "p.Thr165Pro",
"inheritance_mode": "",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_022746.4",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "ENSG00000286231",
"hgnc_id": null,
"hgvs_c": "n.448_450delACCinsCCA",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": 0,
"transcript": "ENST00000651706.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "CCA",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "1",
"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": "P",
"aa_end": null,
"aa_length": 337,
"aa_ref": "T",
"aa_start": 165,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7287,
"cdna_start": 525,
"cds_end": null,
"cds_length": 1014,
"cds_start": 493,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_022746.4",
"gene_hgnc_id": 26189,
"gene_symbol": "MTARC1",
"hgvs_c": "c.493_495delACCinsCCA",
"hgvs_p": "p.Thr165Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000366910.10",
"protein_coding": true,
"protein_id": "NP_073583.3",
"strand": true,
"transcript": "NM_022746.4",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 337,
"aa_ref": "T",
"aa_start": 165,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 7287,
"cdna_start": 525,
"cds_end": null,
"cds_length": 1014,
"cds_start": 493,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000366910.10",
"gene_hgnc_id": 26189,
"gene_symbol": "MTARC1",
"hgvs_c": "c.493_495delACCinsCCA",
"hgvs_p": "p.Thr165Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_022746.4",
"protein_coding": true,
"protein_id": "ENSP00000355877.5",
"strand": true,
"transcript": "ENST00000366910.10",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": true,
"cdna_end": null,
"cdna_length": 1516,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000651706.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000286231",
"hgvs_c": "n.448_450delACCinsCCA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000499157.1",
"strand": true,
"transcript": "ENST00000651706.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 393,
"aa_ref": "T",
"aa_start": 165,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2115,
"cdna_start": 493,
"cds_end": null,
"cds_length": 1182,
"cds_start": 493,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000694919.1",
"gene_hgnc_id": 26189,
"gene_symbol": "MTARC1",
"hgvs_c": "c.493_495delACCinsCCA",
"hgvs_p": "p.Thr165Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000511594.1",
"strand": true,
"transcript": "ENST00000694919.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 313,
"aa_ref": "T",
"aa_start": 165,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1972,
"cdna_start": 555,
"cds_end": null,
"cds_length": 942,
"cds_start": 493,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000865600.1",
"gene_hgnc_id": 26189,
"gene_symbol": "MTARC1",
"hgvs_c": "c.493_495delACCinsCCA",
"hgvs_p": "p.Thr165Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000535659.1",
"strand": true,
"transcript": "ENST00000865600.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 290,
"aa_ref": "T",
"aa_start": 165,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1908,
"cdna_start": 560,
"cds_end": null,
"cds_length": 873,
"cds_start": 493,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000865599.1",
"gene_hgnc_id": 26189,
"gene_symbol": "MTARC1",
"hgvs_c": "c.493_495delACCinsCCA",
"hgvs_p": "p.Thr165Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000535658.1",
"strand": true,
"transcript": "ENST00000865599.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 279,
"aa_ref": "T",
"aa_start": 107,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1828,
"cdna_start": 339,
"cds_end": null,
"cds_length": 840,
"cds_start": 319,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000865601.1",
"gene_hgnc_id": 26189,
"gene_symbol": "MTARC1",
"hgvs_c": "c.319_321delACCinsCCA",
"hgvs_p": "p.Thr107Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000535660.1",
"strand": true,
"transcript": "ENST00000865601.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 262,
"aa_ref": "T",
"aa_start": 73,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1760,
"cdna_start": 218,
"cds_end": null,
"cds_length": 789,
"cds_start": 217,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000407981.6",
"gene_hgnc_id": 26189,
"gene_symbol": "MTARC1",
"hgvs_c": "c.217_219delACCinsCCA",
"hgvs_p": "p.Thr73Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000385327.2",
"strand": true,
"transcript": "ENST00000407981.6",
"transcript_support_level": 5
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 235,
"aa_ref": "T",
"aa_start": 63,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2059,
"cdna_start": 622,
"cds_end": null,
"cds_length": 708,
"cds_start": 187,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000694918.1",
"gene_hgnc_id": 26189,
"gene_symbol": "MTARC1",
"hgvs_c": "c.187_189delACCinsCCA",
"hgvs_p": "p.Thr63Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000511593.1",
"strand": true,
"transcript": "ENST00000694918.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 235,
"aa_ref": "T",
"aa_start": 63,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1759,
"cdna_start": 322,
"cds_end": null,
"cds_length": 708,
"cds_start": 187,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000694922.1",
"gene_hgnc_id": 26189,
"gene_symbol": "MTARC1",
"hgvs_c": "c.187_189delACCinsCCA",
"hgvs_p": "p.Thr63Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000511595.1",
"strand": true,
"transcript": "ENST00000694922.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 354,
"aa_ref": "T",
"aa_start": 165,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7338,
"cdna_start": 525,
"cds_end": null,
"cds_length": 1065,
"cds_start": 493,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011509900.4",
"gene_hgnc_id": 26189,
"gene_symbol": "MTARC1",
"hgvs_c": "c.493_495delACCinsCCA",
"hgvs_p": "p.Thr165Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011508202.1",
"strand": true,
"transcript": "XM_011509900.4",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 271,
"aa_ref": "T",
"aa_start": 82,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7929,
"cdna_start": 1116,
"cds_end": null,
"cds_length": 816,
"cds_start": 244,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011509903.4",
"gene_hgnc_id": 26189,
"gene_symbol": "MTARC1",
"hgvs_c": "c.244_246delACCinsCCA",
"hgvs_p": "p.Thr82Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011508205.1",
"strand": true,
"transcript": "XM_011509903.4",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 254,
"aa_ref": "T",
"aa_start": 82,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7869,
"cdna_start": 1107,
"cds_end": null,
"cds_length": 765,
"cds_start": 244,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017002096.3",
"gene_hgnc_id": 26189,
"gene_symbol": "MTARC1",
"hgvs_c": "c.244_246delACCinsCCA",
"hgvs_p": "p.Thr82Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016857585.1",
"strand": true,
"transcript": "XM_017002096.3",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 252,
"aa_ref": "T",
"aa_start": 63,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7135,
"cdna_start": 322,
"cds_end": null,
"cds_length": 759,
"cds_start": 187,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011509904.4",
"gene_hgnc_id": 26189,
"gene_symbol": "MTARC1",
"hgvs_c": "c.187_189delACCinsCCA",
"hgvs_p": "p.Thr63Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011508206.1",
"strand": true,
"transcript": "XM_011509904.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 2707,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000496110.1",
"gene_hgnc_id": 26189,
"gene_symbol": "MTARC1",
"hgvs_c": "n.1211_1213delACCinsCCA",
"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": "ENST00000496110.1",
"transcript_support_level": 2
},
{
"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": 1503,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000694921.1",
"gene_hgnc_id": 26189,
"gene_symbol": "MTARC1",
"hgvs_c": "n.243_245delACCinsCCA",
"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": "ENST00000694921.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 2173,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000694923.1",
"gene_hgnc_id": 26189,
"gene_symbol": "MTARC1",
"hgvs_c": "n.431_433delACCinsCCA",
"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": "ENST00000694923.1",
"transcript_support_level": null
},
{
"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": 2063,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000694924.1",
"gene_hgnc_id": 26189,
"gene_symbol": "MTARC1",
"hgvs_c": "n.457_459delACCinsCCA",
"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": "ENST00000694924.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1020,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XR_001737362.2",
"gene_hgnc_id": 26189,
"gene_symbol": "MTARC1",
"hgvs_c": "n.525_527delACCinsCCA",
"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": "XR_001737362.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1272,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XR_007063025.1",
"gene_hgnc_id": 26189,
"gene_symbol": "MTARC1",
"hgvs_c": "n.525_527delACCinsCCA",
"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": "XR_007063025.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1318,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
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