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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: 6-158116248-TAAG-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=158116248&ref=TAAG&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 158116248,
"ref": "TAAG",
"alt": "T",
"effect": "conservative_inframe_deletion",
"transcript": "NM_032861.4",
"consequences": [
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERAC1",
"gene_hgnc_id": 21061,
"hgvs_c": "c.1435_1437delCTT",
"hgvs_p": "p.Leu479del",
"transcript": "NM_032861.4",
"protein_id": "NP_116250.3",
"transcript_support_level": null,
"aa_start": 479,
"aa_end": null,
"aa_length": 654,
"cds_start": 1435,
"cds_end": null,
"cds_length": 1965,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000647468.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_032861.4"
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERAC1",
"gene_hgnc_id": 21061,
"hgvs_c": "c.1435_1437delCTT",
"hgvs_p": "p.Leu479del",
"transcript": "ENST00000647468.2",
"protein_id": "ENSP00000496731.1",
"transcript_support_level": null,
"aa_start": 479,
"aa_end": null,
"aa_length": 654,
"cds_start": 1435,
"cds_end": null,
"cds_length": 1965,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_032861.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000647468.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERAC1",
"gene_hgnc_id": 21061,
"hgvs_c": "n.1226_1228delCTT",
"hgvs_p": null,
"transcript": "ENST00000606965.5",
"protein_id": "ENSP00000475808.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000606965.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERAC1",
"gene_hgnc_id": 21061,
"hgvs_c": "n.*2713_*2715delCTT",
"hgvs_p": null,
"transcript": "ENST00000607742.5",
"protein_id": "ENSP00000475523.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000607742.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERAC1",
"gene_hgnc_id": 21061,
"hgvs_c": "n.*2713_*2715delCTT",
"hgvs_p": null,
"transcript": "ENST00000607742.5",
"protein_id": "ENSP00000475523.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000607742.5"
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERAC1",
"gene_hgnc_id": 21061,
"hgvs_c": "c.1435_1437delCTT",
"hgvs_p": "p.Leu479del",
"transcript": "ENST00000941713.1",
"protein_id": "ENSP00000611772.1",
"transcript_support_level": null,
"aa_start": 479,
"aa_end": null,
"aa_length": 654,
"cds_start": 1435,
"cds_end": null,
"cds_length": 1965,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941713.1"
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERAC1",
"gene_hgnc_id": 21061,
"hgvs_c": "c.1396_1398delCTT",
"hgvs_p": "p.Leu466del",
"transcript": "ENST00000941711.1",
"protein_id": "ENSP00000611770.1",
"transcript_support_level": null,
"aa_start": 466,
"aa_end": null,
"aa_length": 641,
"cds_start": 1396,
"cds_end": null,
"cds_length": 1926,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941711.1"
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERAC1",
"gene_hgnc_id": 21061,
"hgvs_c": "c.1345_1347delCTT",
"hgvs_p": "p.Leu449del",
"transcript": "ENST00000642244.1",
"protein_id": "ENSP00000493554.1",
"transcript_support_level": null,
"aa_start": 449,
"aa_end": null,
"aa_length": 624,
"cds_start": 1345,
"cds_end": null,
"cds_length": 1875,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000642244.1"
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERAC1",
"gene_hgnc_id": 21061,
"hgvs_c": "c.1435_1437delCTT",
"hgvs_p": "p.Leu479del",
"transcript": "ENST00000644972.1",
"protein_id": "ENSP00000496451.1",
"transcript_support_level": null,
"aa_start": 479,
"aa_end": null,
"aa_length": 622,
"cds_start": 1435,
"cds_end": null,
"cds_length": 1869,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000644972.1"
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERAC1",
"gene_hgnc_id": 21061,
"hgvs_c": "c.1321_1323delCTT",
"hgvs_p": "p.Leu441del",
"transcript": "ENST00000915172.1",
"protein_id": "ENSP00000585231.1",
"transcript_support_level": null,
"aa_start": 441,
"aa_end": null,
"aa_length": 616,
"cds_start": 1321,
"cds_end": null,
"cds_length": 1851,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915172.1"
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERAC1",
"gene_hgnc_id": 21061,
"hgvs_c": "c.1306_1308delCTT",
"hgvs_p": "p.Leu436del",
"transcript": "ENST00000646410.1",
"protein_id": "ENSP00000494205.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 611,
"cds_start": 1306,
"cds_end": null,
"cds_length": 1836,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000646410.1"
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERAC1",
"gene_hgnc_id": 21061,
"hgvs_c": "c.1303_1305delCTT",
"hgvs_p": "p.Leu435del",
"transcript": "ENST00000941712.1",
"protein_id": "ENSP00000611771.1",
"transcript_support_level": null,
"aa_start": 435,
"aa_end": null,
"aa_length": 610,
"cds_start": 1303,
"cds_end": null,
"cds_length": 1833,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941712.1"
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERAC1",
"gene_hgnc_id": 21061,
"hgvs_c": "c.1435_1437delCTT",
"hgvs_p": "p.Leu479del",
"transcript": "ENST00000642903.1",
"protein_id": "ENSP00000493559.1",
"transcript_support_level": null,
"aa_start": 479,
"aa_end": null,
"aa_length": 587,
"cds_start": 1435,
"cds_end": null,
"cds_length": 1764,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000642903.1"
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERAC1",
"gene_hgnc_id": 21061,
"hgvs_c": "c.1231_1233delCTT",
"hgvs_p": "p.Leu411del",
"transcript": "ENST00000915174.1",
"protein_id": "ENSP00000585233.1",
"transcript_support_level": null,
"aa_start": 411,
"aa_end": null,
"aa_length": 586,
"cds_start": 1231,
"cds_end": null,
"cds_length": 1761,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915174.1"
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERAC1",
"gene_hgnc_id": 21061,
"hgvs_c": "c.1171_1173delCTT",
"hgvs_p": "p.Leu391del",
"transcript": "ENST00000646208.1",
"protein_id": "ENSP00000493723.1",
"transcript_support_level": null,
"aa_start": 391,
"aa_end": null,
"aa_length": 566,
"cds_start": 1171,
"cds_end": null,
"cds_length": 1701,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000646208.1"
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERAC1",
"gene_hgnc_id": 21061,
"hgvs_c": "c.865_867delCTT",
"hgvs_p": "p.Leu289del",
"transcript": "ENST00000915173.1",
"protein_id": "ENSP00000585232.1",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 464,
"cds_start": 865,
"cds_end": null,
"cds_length": 1395,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915173.1"
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERAC1",
"gene_hgnc_id": 21061,
"hgvs_c": "c.1435_1437delCTT",
"hgvs_p": "p.Leu479del",
"transcript": "XM_024446573.2",
"protein_id": "XP_024302341.1",
"transcript_support_level": null,
"aa_start": 479,
"aa_end": null,
"aa_length": 654,
"cds_start": 1435,
"cds_end": null,
"cds_length": 1965,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024446573.2"
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERAC1",
"gene_hgnc_id": 21061,
"hgvs_c": "c.1414_1416delCTT",
"hgvs_p": "p.Leu472del",
"transcript": "XM_047419421.1",
"protein_id": "XP_047275377.1",
"transcript_support_level": null,
"aa_start": 472,
"aa_end": null,
"aa_length": 647,
"cds_start": 1414,
"cds_end": null,
"cds_length": 1944,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419421.1"
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERAC1",
"gene_hgnc_id": 21061,
"hgvs_c": "c.1225_1227delCTT",
"hgvs_p": "p.Leu409del",
"transcript": "XM_006715586.4",
"protein_id": "XP_006715649.1",
"transcript_support_level": null,
"aa_start": 409,
"aa_end": null,
"aa_length": 584,
"cds_start": 1225,
"cds_end": null,
"cds_length": 1755,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006715586.4"
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERAC1",
"gene_hgnc_id": 21061,
"hgvs_c": "c.1225_1227delCTT",
"hgvs_p": "p.Leu409del",
"transcript": "XM_011536198.4",
"protein_id": "XP_011534500.1",
"transcript_support_level": null,
"aa_start": 409,
"aa_end": null,
"aa_length": 584,
"cds_start": 1225,
"cds_end": null,
"cds_length": 1755,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011536198.4"
},
{
"aa_ref": "FL",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERAC1",
"gene_hgnc_id": 21061,
"hgvs_c": "c.1479_1481delCTT",
"hgvs_p": "p.Phe493del",
"transcript": "ENST00000367101.5",
"protein_id": "ENSP00000356068.1",
"transcript_support_level": 5,
"aa_start": 493,
"aa_end": null,
"aa_length": 531,
"cds_start": 1479,
"cds_end": null,
"cds_length": 1596,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000367101.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERAC1",
"gene_hgnc_id": 21061,
"hgvs_c": "n.*188_*190delCTT",
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"splice_prediction_selected": "Benign",
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"phylop100way_score": 8.707,
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{
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"PM4_Supporting",
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"verdict": "Uncertain_significance",
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],
"clinvar_disease": " and Leigh-like syndrome, encephalopathy,3-methylglutaconic aciduria with deafness",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}