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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: 17-75631458-GT-AA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=75631458&ref=GT&alt=AA&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "RECQL5",
"hgnc_id": 9950,
"hgvs_c": "c.1439_1440delACinsTT",
"hgvs_p": "p.Asp480Val",
"inheritance_mode": "AR,AD",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_004259.7",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [],
"effects": [
"5_prime_UTR_variant"
],
"gene_symbol": "SMIM5",
"hgnc_id": 40030,
"hgvs_c": "c.-2784_-2783delGTinsAA",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": 0,
"transcript": "ENST00000910959.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "AA",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "17",
"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": "V",
"aa_end": null,
"aa_length": 991,
"aa_ref": "D",
"aa_start": 480,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3669,
"cdna_start": 1565,
"cds_end": null,
"cds_length": 2976,
"cds_start": 1439,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_004259.7",
"gene_hgnc_id": 9950,
"gene_symbol": "RECQL5",
"hgvs_c": "c.1439_1440delACinsTT",
"hgvs_p": "p.Asp480Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000317905.10",
"protein_coding": true,
"protein_id": "NP_004250.4",
"strand": false,
"transcript": "NM_004259.7",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 991,
"aa_ref": "D",
"aa_start": 480,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3669,
"cdna_start": 1565,
"cds_end": null,
"cds_length": 2976,
"cds_start": 1439,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000317905.10",
"gene_hgnc_id": 9950,
"gene_symbol": "RECQL5",
"hgvs_c": "c.1439_1440delACinsTT",
"hgvs_p": "p.Asp480Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_004259.7",
"protein_coding": true,
"protein_id": "ENSP00000317636.5",
"strand": false,
"transcript": "ENST00000317905.10",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 964,
"aa_ref": "D",
"aa_start": 453,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3576,
"cdna_start": 1472,
"cds_end": null,
"cds_length": 2895,
"cds_start": 1358,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000423245.6",
"gene_hgnc_id": 9950,
"gene_symbol": "RECQL5",
"hgvs_c": "c.1358_1359delACinsTT",
"hgvs_p": "p.Asp453Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000394820.2",
"strand": false,
"transcript": "ENST00000423245.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 3089,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 13,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000443199.6",
"gene_hgnc_id": 9950,
"gene_symbol": "RECQL5",
"hgvs_c": "n.975_976delACinsTT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000443199.6",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 991,
"aa_ref": "D",
"aa_start": 480,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3878,
"cdna_start": 1790,
"cds_end": null,
"cds_length": 2976,
"cds_start": 1439,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000919295.1",
"gene_hgnc_id": 9950,
"gene_symbol": "RECQL5",
"hgvs_c": "c.1439_1440delACinsTT",
"hgvs_p": "p.Asp480Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000589354.1",
"strand": false,
"transcript": "ENST00000919295.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 991,
"aa_ref": "D",
"aa_start": 480,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3604,
"cdna_start": 1520,
"cds_end": null,
"cds_length": 2976,
"cds_start": 1439,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000919296.1",
"gene_hgnc_id": 9950,
"gene_symbol": "RECQL5",
"hgvs_c": "c.1439_1440delACinsTT",
"hgvs_p": "p.Asp480Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000589355.1",
"strand": false,
"transcript": "ENST00000919296.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 990,
"aa_ref": "D",
"aa_start": 480,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3675,
"cdna_start": 1575,
"cds_end": null,
"cds_length": 2973,
"cds_start": 1439,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000941132.1",
"gene_hgnc_id": 9950,
"gene_symbol": "RECQL5",
"hgvs_c": "c.1439_1440delACinsTT",
"hgvs_p": "p.Asp480Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000611191.1",
"strand": false,
"transcript": "ENST00000941132.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 973,
"aa_ref": "D",
"aa_start": 480,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3635,
"cdna_start": 1601,
"cds_end": null,
"cds_length": 2922,
"cds_start": 1439,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000910739.1",
"gene_hgnc_id": 9950,
"gene_symbol": "RECQL5",
"hgvs_c": "c.1439_1440delACinsTT",
"hgvs_p": "p.Asp480Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000580798.1",
"strand": false,
"transcript": "ENST00000910739.1",
"transcript_support_level": null
},
{
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"aa_end": null,
"aa_length": 946,
"aa_ref": "D",
"aa_start": 480,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3539,
"cdna_start": 1586,
"cds_end": null,
"cds_length": 2841,
"cds_start": 1439,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000941133.1",
"gene_hgnc_id": 9950,
"gene_symbol": "RECQL5",
"hgvs_c": "c.1439_1440delACinsTT",
"hgvs_p": "p.Asp480Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000611192.1",
"strand": false,
"transcript": "ENST00000941133.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 879,
"aa_ref": "D",
"aa_start": 480,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3360,
"cdna_start": 1592,
"cds_end": null,
"cds_length": 2640,
"cds_start": 1439,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000919294.1",
"gene_hgnc_id": 9950,
"gene_symbol": "RECQL5",
"hgvs_c": "c.1439_1440delACinsTT",
"hgvs_p": "p.Asp480Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000589353.1",
"strand": false,
"transcript": "ENST00000919294.1",
"transcript_support_level": null
},
{
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"aa_end": null,
"aa_length": 858,
"aa_ref": "D",
"aa_start": 480,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3266,
"cdna_start": 1565,
"cds_end": null,
"cds_length": 2577,
"cds_start": 1439,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000910741.1",
"gene_hgnc_id": 9950,
"gene_symbol": "RECQL5",
"hgvs_c": "c.1439_1440delACinsTT",
"hgvs_p": "p.Asp480Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000580800.1",
"strand": false,
"transcript": "ENST00000910741.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1012,
"aa_ref": "D",
"aa_start": 480,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3732,
"cdna_start": 1565,
"cds_end": null,
"cds_length": 3039,
"cds_start": 1439,
"consequences": [
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],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_005257818.5",
"gene_hgnc_id": 9950,
"gene_symbol": "RECQL5",
"hgvs_c": "c.1439_1440delACinsTT",
"hgvs_p": "p.Asp480Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005257875.1",
"strand": false,
"transcript": "XM_005257818.5",
"transcript_support_level": null
},
{
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"aa_end": null,
"aa_length": 991,
"aa_ref": "D",
"aa_start": 480,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4141,
"cdna_start": 2037,
"cds_end": null,
"cds_length": 2976,
"cds_start": 1439,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047437085.1",
"gene_hgnc_id": 9950,
"gene_symbol": "RECQL5",
"hgvs_c": "c.1439_1440delACinsTT",
"hgvs_p": "p.Asp480Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047293041.1",
"strand": false,
"transcript": "XM_047437085.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 633,
"aa_ref": "D",
"aa_start": 101,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3626,
"cdna_start": 1459,
"cds_end": null,
"cds_length": 1902,
"cds_start": 302,
"consequences": [
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],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047437086.1",
"gene_hgnc_id": 9950,
"gene_symbol": "RECQL5",
"hgvs_c": "c.302_303delACinsTT",
"hgvs_p": "p.Asp101Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047293042.1",
"strand": false,
"transcript": "XM_047437086.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 633,
"aa_ref": "D",
"aa_start": 101,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2957,
"cdna_start": 790,
"cds_end": null,
"cds_length": 1902,
"cds_start": 302,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047437087.1",
"gene_hgnc_id": 9950,
"gene_symbol": "RECQL5",
"hgvs_c": "c.302_303delACinsTT",
"hgvs_p": "p.Asp101Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047293043.1",
"strand": false,
"transcript": "XM_047437087.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 618,
"aa_ref": "D",
"aa_start": 86,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2740,
"cdna_start": 573,
"cds_end": null,
"cds_length": 1857,
"cds_start": 257,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011525484.2",
"gene_hgnc_id": 9950,
"gene_symbol": "RECQL5",
"hgvs_c": "c.257_258delACinsTT",
"hgvs_p": "p.Asp86Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011523786.1",
"strand": false,
"transcript": "XM_011525484.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 612,
"aa_ref": "D",
"aa_start": 80,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2696,
"cdna_start": 529,
"cds_end": null,
"cds_length": 1839,
"cds_start": 239,
"consequences": [
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],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011525485.3",
"gene_hgnc_id": 9950,
"gene_symbol": "RECQL5",
"hgvs_c": "c.239_240delACinsTT",
"hgvs_p": "p.Asp80Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011523787.1",
"strand": false,
"transcript": "XM_011525485.3",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 612,
"aa_ref": "D",
"aa_start": 101,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2481,
"cdna_start": 377,
"cds_end": null,
"cds_length": 1839,
"cds_start": 302,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047437088.1",
"gene_hgnc_id": 9950,
"gene_symbol": "RECQL5",
"hgvs_c": "c.302_303delACinsTT",
"hgvs_p": "p.Asp101Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047293044.1",
"strand": false,
"transcript": "XM_047437088.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 607,
"aa_ref": "D",
"aa_start": 75,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2465,
"cdna_start": 298,
"cds_end": null,
"cds_length": 1824,
"cds_start": 224,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_006722186.2",
"gene_hgnc_id": 9950,
"gene_symbol": "RECQL5",
"hgvs_c": "c.224_225delACinsTT",
"hgvs_p": "p.Asp75Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006722249.1",
"strand": false,
"transcript": "XM_006722186.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 597,
"aa_ref": "D",
"aa_start": 86,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2677,
"cdna_start": 573,
"cds_end": null,
"cds_length": 1794,
"cds_start": 257,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047437089.1",
"gene_hgnc_id": 9950,
"gene_symbol": "RECQL5",
"hgvs_c": "c.257_258delACinsTT",
"hgvs_p": "p.Asp86Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047293045.1",
"strand": false,
"transcript": "XM_047437089.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 586,
"aa_ref": "D",
"aa_start": 75,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5722,
"cdna_start": 3618,
"cds_end": null,
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