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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: 1-42566377-ATT-TTC (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=42566377&ref=ATT&alt=TTC&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "CCDC30",
"hgnc_id": 26103,
"hgvs_c": "c.1222_1224delATTinsTTC",
"hgvs_p": "p.Ile408Phe",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_001395517.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "TTC",
"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": "F",
"aa_end": null,
"aa_length": 938,
"aa_ref": "I",
"aa_start": 408,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6683,
"cdna_start": 1926,
"cds_end": null,
"cds_length": 2817,
"cds_start": 1222,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001395517.1",
"gene_hgnc_id": 26103,
"gene_symbol": "CCDC30",
"hgvs_c": "c.1222_1224delATTinsTTC",
"hgvs_p": "p.Ile408Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000657597.2",
"protein_coding": true,
"protein_id": "NP_001382446.1",
"strand": true,
"transcript": "NM_001395517.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 938,
"aa_ref": "I",
"aa_start": 408,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6683,
"cdna_start": 1926,
"cds_end": null,
"cds_length": 2817,
"cds_start": 1222,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000657597.2",
"gene_hgnc_id": 26103,
"gene_symbol": "CCDC30",
"hgvs_c": "c.1222_1224delATTinsTTC",
"hgvs_p": "p.Ile408Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001395517.1",
"protein_coding": true,
"protein_id": "ENSP00000499662.2",
"strand": true,
"transcript": "ENST00000657597.2",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 248,
"aa_ref": "I",
"aa_start": 37,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6827,
"cdna_start": 111,
"cds_end": null,
"cds_length": 747,
"cds_start": 109,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000514642.1",
"gene_hgnc_id": 26103,
"gene_symbol": "CCDC30",
"hgvs_c": "c.109_111delATTinsTTC",
"hgvs_p": "p.Ile37Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000499505.1",
"strand": true,
"transcript": "ENST00000514642.1",
"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": 3653,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 23,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000477155.6",
"gene_hgnc_id": 26103,
"gene_symbol": "CCDC30",
"hgvs_c": "n.*1300_*1302delATTinsTTC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000421479.3",
"strand": true,
"transcript": "ENST00000477155.6",
"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": 2445,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 15,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000507855.5",
"gene_hgnc_id": 26103,
"gene_symbol": "CCDC30",
"hgvs_c": "n.692_694delATTinsTTC",
"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": "ENST00000507855.5",
"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": 3653,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 23,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000477155.6",
"gene_hgnc_id": 26103,
"gene_symbol": "CCDC30",
"hgvs_c": "n.*1300_*1302delATTinsTTC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000421479.3",
"strand": true,
"transcript": "ENST00000477155.6",
"transcript_support_level": 1
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 826,
"aa_ref": "I",
"aa_start": 296,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2689,
"cdna_start": 1015,
"cds_end": null,
"cds_length": 2481,
"cds_start": 886,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000340612.6",
"gene_hgnc_id": 26103,
"gene_symbol": "CCDC30",
"hgvs_c": "c.886_888delATTinsTTC",
"hgvs_p": "p.Ile296Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000340378.5",
"strand": true,
"transcript": "ENST00000340612.6",
"transcript_support_level": 5
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 796,
"aa_ref": "I",
"aa_start": 327,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2553,
"cdna_start": 980,
"cds_end": null,
"cds_length": 2391,
"cds_start": 979,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000671538.1",
"gene_hgnc_id": 26103,
"gene_symbol": "CCDC30",
"hgvs_c": "c.979_981delATTinsTTC",
"hgvs_p": "p.Ile327Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000499316.1",
"strand": true,
"transcript": "ENST00000671538.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 783,
"aa_ref": "I",
"aa_start": 253,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6318,
"cdna_start": 1561,
"cds_end": null,
"cds_length": 2352,
"cds_start": 757,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001080850.4",
"gene_hgnc_id": 26103,
"gene_symbol": "CCDC30",
"hgvs_c": "c.757_759delATTinsTTC",
"hgvs_p": "p.Ile253Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001074319.1",
"strand": true,
"transcript": "NM_001080850.4",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 783,
"aa_ref": "I",
"aa_start": 253,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3098,
"cdna_start": 867,
"cds_end": null,
"cds_length": 2352,
"cds_start": 757,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000342022.8",
"gene_hgnc_id": 26103,
"gene_symbol": "CCDC30",
"hgvs_c": "c.757_759delATTinsTTC",
"hgvs_p": "p.Ile253Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000339280.4",
"strand": true,
"transcript": "ENST00000342022.8",
"transcript_support_level": 5
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 752,
"aa_ref": "I",
"aa_start": 222,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6125,
"cdna_start": 1368,
"cds_end": null,
"cds_length": 2259,
"cds_start": 664,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001395379.1",
"gene_hgnc_id": 26103,
"gene_symbol": "CCDC30",
"hgvs_c": "c.664_666delATTinsTTC",
"hgvs_p": "p.Ile222Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001382308.1",
"strand": true,
"transcript": "NM_001395379.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 710,
"aa_ref": "I",
"aa_start": 180,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5999,
"cdna_start": 1242,
"cds_end": null,
"cds_length": 2133,
"cds_start": 538,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001395382.1",
"gene_hgnc_id": 26103,
"gene_symbol": "CCDC30",
"hgvs_c": "c.538_540delATTinsTTC",
"hgvs_p": "p.Ile180Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001382311.1",
"strand": true,
"transcript": "NM_001395382.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 710,
"aa_ref": "I",
"aa_start": 180,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5758,
"cdna_start": 1001,
"cds_end": null,
"cds_length": 2133,
"cds_start": 538,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001395383.1",
"gene_hgnc_id": 26103,
"gene_symbol": "CCDC30",
"hgvs_c": "c.538_540delATTinsTTC",
"hgvs_p": "p.Ile180Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001382312.1",
"strand": true,
"transcript": "NM_001395383.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 710,
"aa_ref": "I",
"aa_start": 180,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6028,
"cdna_start": 1271,
"cds_end": null,
"cds_length": 2133,
"cds_start": 538,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001395384.1",
"gene_hgnc_id": 26103,
"gene_symbol": "CCDC30",
"hgvs_c": "c.538_540delATTinsTTC",
"hgvs_p": "p.Ile180Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001382313.1",
"strand": true,
"transcript": "NM_001395384.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 710,
"aa_ref": "I",
"aa_start": 180,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5991,
"cdna_start": 1234,
"cds_end": null,
"cds_length": 2133,
"cds_start": 538,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001395385.1",
"gene_hgnc_id": 26103,
"gene_symbol": "CCDC30",
"hgvs_c": "c.538_540delATTinsTTC",
"hgvs_p": "p.Ile180Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001382314.1",
"strand": true,
"transcript": "NM_001395385.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 710,
"aa_ref": "I",
"aa_start": 180,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3245,
"cdna_start": 1263,
"cds_end": null,
"cds_length": 2133,
"cds_start": 538,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000660083.1",
"gene_hgnc_id": 26103,
"gene_symbol": "CCDC30",
"hgvs_c": "c.538_540delATTinsTTC",
"hgvs_p": "p.Ile180Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000499483.1",
"strand": true,
"transcript": "ENST00000660083.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 710,
"aa_ref": "I",
"aa_start": 180,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2929,
"cdna_start": 1208,
"cds_end": null,
"cds_length": 2133,
"cds_start": 538,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000664805.1",
"gene_hgnc_id": 26103,
"gene_symbol": "CCDC30",
"hgvs_c": "c.538_540delATTinsTTC",
"hgvs_p": "p.Ile180Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000499336.1",
"strand": true,
"transcript": "ENST00000664805.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 710,
"aa_ref": "I",
"aa_start": 180,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2793,
"cdna_start": 1050,
"cds_end": null,
"cds_length": 2133,
"cds_start": 538,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000667205.1",
"gene_hgnc_id": 26103,
"gene_symbol": "CCDC30",
"hgvs_c": "c.538_540delATTinsTTC",
"hgvs_p": "p.Ile180Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000499722.1",
"strand": true,
"transcript": "ENST00000667205.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 710,
"aa_ref": "I",
"aa_start": 180,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2966,
"cdna_start": 1234,
"cds_end": null,
"cds_length": 2133,
"cds_start": 538,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000668663.1",
"gene_hgnc_id": 26103,
"gene_symbol": "CCDC30",
"hgvs_c": "c.538_540delATTinsTTC",
"hgvs_p": "p.Ile180Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000499699.1",
"strand": true,
"transcript": "ENST00000668663.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 666,
"aa_ref": "I",
"aa_start": 180,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2986,
"cdna_start": 1185,
"cds_end": null,
"cds_length": 2001,
"cds_start": 538,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000665176.1",
"gene_hgnc_id": 26103,
"gene_symbol": "CCDC30",
"hgvs_c": "c.538_540delATTinsTTC",
"hgvs_p": "p.Ile180Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000499388.1",
"strand": true,
"transcript": "ENST00000665176.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 502,
"aa_ref": "I",
"aa_start": 222,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1929,
"cdna_start": 1084,
"cds_end": null,
"cds_length": 1509,
"cds_start": 664,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000654604.1",
"gene_hgnc_id": 26103,
"gene_symbol": "CCDC30",
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