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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: 10-7799112-AG-TC (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=7799112&ref=AG&alt=TC&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"synonymous_variant"
],
"gene_symbol": "ATP5F1C",
"hgnc_id": 833,
"hgvs_c": "c.346_347delAGinsTC",
"hgvs_p": "p.117",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_001001973.3",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [],
"effects": [
"downstream_gene_variant"
],
"gene_symbol": "ENSG00000305746",
"hgnc_id": null,
"hgvs_c": "n.*75_*76delCTinsGA",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": 0,
"transcript": "ENST00000812751.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "TC",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "10",
"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": 298,
"aa_ref": "S",
"aa_start": 116,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1101,
"cdna_start": 377,
"cds_end": null,
"cds_length": 897,
"cds_start": 346,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001001973.3",
"gene_hgnc_id": 833,
"gene_symbol": "ATP5F1C",
"hgvs_c": "c.346_347delAGinsTC",
"hgvs_p": "p.117",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000356708.12",
"protein_coding": true,
"protein_id": "NP_001001973.1",
"strand": true,
"transcript": "NM_001001973.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 298,
"aa_ref": "S",
"aa_start": 116,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1101,
"cdna_start": 377,
"cds_end": null,
"cds_length": 897,
"cds_start": 346,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000356708.12",
"gene_hgnc_id": 833,
"gene_symbol": "ATP5F1C",
"hgvs_c": "c.346_347delAGinsTC",
"hgvs_p": "p.117",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001001973.3",
"protein_coding": true,
"protein_id": "ENSP00000349142.7",
"strand": true,
"transcript": "ENST00000356708.12",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 297,
"aa_ref": "S",
"aa_start": 116,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1078,
"cdna_start": 377,
"cds_end": null,
"cds_length": 894,
"cds_start": 346,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000335698.4",
"gene_hgnc_id": 833,
"gene_symbol": "ATP5F1C",
"hgvs_c": "c.346_347delAGinsTC",
"hgvs_p": "p.117",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000338568.4",
"strand": true,
"transcript": "ENST00000335698.4",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 329,
"aa_ref": "S",
"aa_start": 116,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1155,
"cdna_start": 361,
"cds_end": null,
"cds_length": 990,
"cds_start": 346,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000864428.1",
"gene_hgnc_id": 833,
"gene_symbol": "ATP5F1C",
"hgvs_c": "c.346_347delAGinsTC",
"hgvs_p": "p.117",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000534487.1",
"strand": true,
"transcript": "ENST00000864428.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 307,
"aa_ref": "S",
"aa_start": 116,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1151,
"cdna_start": 400,
"cds_end": null,
"cds_length": 924,
"cds_start": 346,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000864424.1",
"gene_hgnc_id": 833,
"gene_symbol": "ATP5F1C",
"hgvs_c": "c.346_347delAGinsTC",
"hgvs_p": "p.117",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000534483.1",
"strand": true,
"transcript": "ENST00000864424.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 304,
"aa_ref": "S",
"aa_start": 116,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1094,
"cdna_start": 361,
"cds_end": null,
"cds_length": 915,
"cds_start": 346,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000864427.1",
"gene_hgnc_id": 833,
"gene_symbol": "ATP5F1C",
"hgvs_c": "c.346_347delAGinsTC",
"hgvs_p": "p.117",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000534486.1",
"strand": true,
"transcript": "ENST00000864427.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 297,
"aa_ref": "S",
"aa_start": 116,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1064,
"cdna_start": 377,
"cds_end": null,
"cds_length": 894,
"cds_start": 346,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_005174.4",
"gene_hgnc_id": 833,
"gene_symbol": "ATP5F1C",
"hgvs_c": "c.346_347delAGinsTC",
"hgvs_p": "p.117",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_005165.1",
"strand": true,
"transcript": "NM_005174.4",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 284,
"aa_ref": "S",
"aa_start": 102,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1144,
"cdna_start": 420,
"cds_end": null,
"cds_length": 855,
"cds_start": 304,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000864423.1",
"gene_hgnc_id": 833,
"gene_symbol": "ATP5F1C",
"hgvs_c": "c.304_305delAGinsTC",
"hgvs_p": "p.103",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000534482.1",
"strand": true,
"transcript": "ENST00000864423.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 274,
"aa_ref": "S",
"aa_start": 92,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1038,
"cdna_start": 314,
"cds_end": null,
"cds_length": 825,
"cds_start": 274,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000926764.1",
"gene_hgnc_id": 833,
"gene_symbol": "ATP5F1C",
"hgvs_c": "c.274_275delAGinsTC",
"hgvs_p": "p.93",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000596823.1",
"strand": true,
"transcript": "ENST00000926764.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 254,
"aa_ref": "S",
"aa_start": 72,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 954,
"cdna_start": 239,
"cds_end": null,
"cds_length": 765,
"cds_start": 214,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000864426.1",
"gene_hgnc_id": 833,
"gene_symbol": "ATP5F1C",
"hgvs_c": "c.214_215delAGinsTC",
"hgvs_p": "p.73",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000534485.1",
"strand": true,
"transcript": "ENST00000864426.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 251,
"aa_ref": "S",
"aa_start": 69,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1066,
"cdna_start": 342,
"cds_end": null,
"cds_length": 756,
"cds_start": 205,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001320886.2",
"gene_hgnc_id": 833,
"gene_symbol": "ATP5F1C",
"hgvs_c": "c.205_206delAGinsTC",
"hgvs_p": "p.70",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001307815.1",
"strand": true,
"transcript": "NM_001320886.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 250,
"aa_ref": "S",
"aa_start": 116,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 975,
"cdna_start": 395,
"cds_end": null,
"cds_length": 753,
"cds_start": 346,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000864425.1",
"gene_hgnc_id": 833,
"gene_symbol": "ATP5F1C",
"hgvs_c": "c.346_347delAGinsTC",
"hgvs_p": "p.117",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000534484.1",
"strand": true,
"transcript": "ENST00000864425.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 144,
"aa_ref": "S",
"aa_start": 116,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 648,
"cdna_start": 386,
"cds_end": null,
"cds_length": 435,
"cds_start": 346,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000926765.1",
"gene_hgnc_id": 833,
"gene_symbol": "ATP5F1C",
"hgvs_c": "c.346_347delAGinsTC",
"hgvs_p": "p.117",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000596824.1",
"strand": true,
"transcript": "ENST00000926765.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 298,
"aa_ref": "S",
"aa_start": 116,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 964,
"cdna_start": 377,
"cds_end": null,
"cds_length": 897,
"cds_start": 346,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047425254.1",
"gene_hgnc_id": 833,
"gene_symbol": "ATP5F1C",
"hgvs_c": "c.346_347delAGinsTC",
"hgvs_p": "p.117",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047281210.1",
"strand": true,
"transcript": "XM_047425254.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 250,
"aa_ref": "S",
"aa_start": 69,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1029,
"cdna_start": 342,
"cds_end": null,
"cds_length": 753,
"cds_start": 205,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017016290.2",
"gene_hgnc_id": 833,
"gene_symbol": "ATP5F1C",
"hgvs_c": "c.205_206delAGinsTC",
"hgvs_p": "p.70",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016871779.1",
"strand": true,
"transcript": "XM_017016290.2",
"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": 622,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000460820.6",
"gene_hgnc_id": 833,
"gene_symbol": "ATP5F1C",
"hgvs_c": "n.370_371delAGinsTC",
"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": "ENST00000460820.6",
"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": 782,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000472202.1",
"gene_hgnc_id": 833,
"gene_symbol": "ATP5F1C",
"hgvs_c": "n.344_345delAGinsTC",
"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": "ENST00000472202.1",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1096,
"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": "ENST00000493053.5",
"gene_hgnc_id": 833,
"gene_symbol": "ATP5F1C",
"hgvs_c": "n.372_373delAGinsTC",
"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": "ENST00000493053.5",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 292,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000465936.5",
"gene_hgnc_id": 833,
"gene_symbol": "ATP5F1C",
"hgvs_c": "n.120+2957_120+2958delAGinsTC",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000465936.5",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 653,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000812751.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000305746",
"hgvs_c": "n.*75_*76delCTinsGA",
"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": "ENST00000812751.1",
"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": 450,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000812752.1",
"gene_hgnc_id": null,
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