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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: 15-90766966-C-CAAAT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=90766966&ref=C&alt=CAAAT&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PVS1",
"PP5_Very_Strong"
],
"effects": [
"frameshift_variant"
],
"gene_symbol": "BLM",
"hgnc_id": 1058,
"hgvs_c": "c.2250_2251insAAAT",
"hgvs_p": "p.Leu751fs",
"inheritance_mode": "AD,AR",
"pathogenic_score": 16,
"score": 16,
"transcript": "NM_000057.4",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PP5_Very_Strong",
"acmg_score": 16,
"allele_count_reference_population": 20,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "CAAAT",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "15",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_disease": "Bloom syndrome,Hereditary cancer-predisposing syndrome",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:6 LP:1",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "KS?",
"aa_end": null,
"aa_length": 1417,
"aa_ref": "L",
"aa_start": 751,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5240,
"cdna_start": 2350,
"cds_end": null,
"cds_length": 4254,
"cds_start": 2251,
"consequences": [
"frameshift_variant"
],
"exon_count": 22,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_000057.4",
"gene_hgnc_id": 1058,
"gene_symbol": "BLM",
"hgvs_c": "c.2250_2251insAAAT",
"hgvs_p": "p.Leu751fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000355112.8",
"protein_coding": true,
"protein_id": "NP_000048.1",
"strand": true,
"transcript": "NM_000057.4",
"transcript_support_level": null
},
{
"aa_alt": "KS?",
"aa_end": null,
"aa_length": 1417,
"aa_ref": "L",
"aa_start": 751,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5240,
"cdna_start": 2350,
"cds_end": null,
"cds_length": 4254,
"cds_start": 2251,
"consequences": [
"frameshift_variant"
],
"exon_count": 22,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000355112.8",
"gene_hgnc_id": 1058,
"gene_symbol": "BLM",
"hgvs_c": "c.2250_2251insAAAT",
"hgvs_p": "p.Leu751fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000057.4",
"protein_coding": true,
"protein_id": "ENSP00000347232.3",
"strand": true,
"transcript": "ENST00000355112.8",
"transcript_support_level": 1
},
{
"aa_alt": "KS?",
"aa_end": null,
"aa_length": 1286,
"aa_ref": "L",
"aa_start": 751,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3966,
"cdna_start": 2302,
"cds_end": null,
"cds_length": 3861,
"cds_start": 2251,
"consequences": [
"frameshift_variant"
],
"exon_count": 20,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000560509.5",
"gene_hgnc_id": 1058,
"gene_symbol": "BLM",
"hgvs_c": "c.2250_2251insAAAT",
"hgvs_p": "p.Leu751fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000454158.1",
"strand": true,
"transcript": "ENST00000560509.5",
"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": 4510,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 22,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000559724.5",
"gene_hgnc_id": 1058,
"gene_symbol": "BLM",
"hgvs_c": "n.*1174_*1175insAAAT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000453359.1",
"strand": true,
"transcript": "ENST00000559724.5",
"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": 4510,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 22,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000559724.5",
"gene_hgnc_id": 1058,
"gene_symbol": "BLM",
"hgvs_c": "n.*1174_*1175insAAAT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000453359.1",
"strand": true,
"transcript": "ENST00000559724.5",
"transcript_support_level": 1
},
{
"aa_alt": "KS?",
"aa_end": null,
"aa_length": 1448,
"aa_ref": "L",
"aa_start": 751,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4596,
"cdna_start": 2320,
"cds_end": null,
"cds_length": 4347,
"cds_start": 2251,
"consequences": [
"frameshift_variant"
],
"exon_count": 23,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000936452.1",
"gene_hgnc_id": 1058,
"gene_symbol": "BLM",
"hgvs_c": "c.2250_2251insAAAT",
"hgvs_p": "p.Leu751fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606511.1",
"strand": true,
"transcript": "ENST00000936452.1",
"transcript_support_level": null
},
{
"aa_alt": "KS?",
"aa_end": null,
"aa_length": 1435,
"aa_ref": "L",
"aa_start": 751,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4584,
"cdna_start": 2347,
"cds_end": null,
"cds_length": 4308,
"cds_start": 2251,
"consequences": [
"frameshift_variant"
],
"exon_count": 22,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000936450.1",
"gene_hgnc_id": 1058,
"gene_symbol": "BLM",
"hgvs_c": "c.2250_2251insAAAT",
"hgvs_p": "p.Leu751fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606509.1",
"strand": true,
"transcript": "ENST00000936450.1",
"transcript_support_level": null
},
{
"aa_alt": "KS?",
"aa_end": null,
"aa_length": 1417,
"aa_ref": "L",
"aa_start": 751,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5350,
"cdna_start": 2460,
"cds_end": null,
"cds_length": 4254,
"cds_start": 2251,
"consequences": [
"frameshift_variant"
],
"exon_count": 23,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001287246.2",
"gene_hgnc_id": 1058,
"gene_symbol": "BLM",
"hgvs_c": "c.2250_2251insAAAT",
"hgvs_p": "p.Leu751fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001274175.1",
"strand": true,
"transcript": "NM_001287246.2",
"transcript_support_level": null
},
{
"aa_alt": "KS?",
"aa_end": null,
"aa_length": 1417,
"aa_ref": "L",
"aa_start": 751,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5033,
"cdna_start": 2327,
"cds_end": null,
"cds_length": 4254,
"cds_start": 2251,
"consequences": [
"frameshift_variant"
],
"exon_count": 22,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000680772.1",
"gene_hgnc_id": 1058,
"gene_symbol": "BLM",
"hgvs_c": "c.2250_2251insAAAT",
"hgvs_p": "p.Leu751fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000506117.1",
"strand": true,
"transcript": "ENST00000680772.1",
"transcript_support_level": null
},
{
"aa_alt": "KS?",
"aa_end": null,
"aa_length": 1417,
"aa_ref": "L",
"aa_start": 751,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4615,
"cdna_start": 2432,
"cds_end": null,
"cds_length": 4254,
"cds_start": 2251,
"consequences": [
"frameshift_variant"
],
"exon_count": 23,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000936448.1",
"gene_hgnc_id": 1058,
"gene_symbol": "BLM",
"hgvs_c": "c.2250_2251insAAAT",
"hgvs_p": "p.Leu751fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606507.1",
"strand": true,
"transcript": "ENST00000936448.1",
"transcript_support_level": null
},
{
"aa_alt": "KS?",
"aa_end": null,
"aa_length": 1417,
"aa_ref": "L",
"aa_start": 751,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4688,
"cdna_start": 2502,
"cds_end": null,
"cds_length": 4254,
"cds_start": 2251,
"consequences": [
"frameshift_variant"
],
"exon_count": 23,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000936451.1",
"gene_hgnc_id": 1058,
"gene_symbol": "BLM",
"hgvs_c": "c.2250_2251insAAAT",
"hgvs_p": "p.Leu751fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606510.1",
"strand": true,
"transcript": "ENST00000936451.1",
"transcript_support_level": null
},
{
"aa_alt": "KS?",
"aa_end": null,
"aa_length": 1417,
"aa_ref": "L",
"aa_start": 751,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4503,
"cdna_start": 2411,
"cds_end": null,
"cds_length": 4254,
"cds_start": 2251,
"consequences": [
"frameshift_variant"
],
"exon_count": 23,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000936455.1",
"gene_hgnc_id": 1058,
"gene_symbol": "BLM",
"hgvs_c": "c.2250_2251insAAAT",
"hgvs_p": "p.Leu751fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606514.1",
"strand": true,
"transcript": "ENST00000936455.1",
"transcript_support_level": null
},
{
"aa_alt": "KS?",
"aa_end": null,
"aa_length": 1416,
"aa_ref": "L",
"aa_start": 750,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5222,
"cdna_start": 2345,
"cds_end": null,
"cds_length": 4251,
"cds_start": 2248,
"consequences": [
"frameshift_variant"
],
"exon_count": 22,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000936446.1",
"gene_hgnc_id": 1058,
"gene_symbol": "BLM",
"hgvs_c": "c.2247_2248insAAAT",
"hgvs_p": "p.Leu750fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606505.1",
"strand": true,
"transcript": "ENST00000936446.1",
"transcript_support_level": null
},
{
"aa_alt": "KS?",
"aa_end": null,
"aa_length": 1386,
"aa_ref": "L",
"aa_start": 751,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4522,
"cdna_start": 2333,
"cds_end": null,
"cds_length": 4161,
"cds_start": 2251,
"consequences": [
"frameshift_variant"
],
"exon_count": 23,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000648453.1",
"gene_hgnc_id": 1058,
"gene_symbol": "BLM",
"hgvs_c": "c.2250_2251insAAAT",
"hgvs_p": "p.Leu751fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000497646.1",
"strand": true,
"transcript": "ENST00000648453.1",
"transcript_support_level": null
},
{
"aa_alt": "KS?",
"aa_end": null,
"aa_length": 1384,
"aa_ref": "L",
"aa_start": 751,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4334,
"cdna_start": 2346,
"cds_end": null,
"cds_length": 4155,
"cds_start": 2251,
"consequences": [
"frameshift_variant"
],
"exon_count": 21,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000936454.1",
"gene_hgnc_id": 1058,
"gene_symbol": "BLM",
"hgvs_c": "c.2250_2251insAAAT",
"hgvs_p": "p.Leu751fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606513.1",
"strand": true,
"transcript": "ENST00000936454.1",
"transcript_support_level": null
},
{
"aa_alt": "KS?",
"aa_end": null,
"aa_length": 1372,
"aa_ref": "L",
"aa_start": 751,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4270,
"cdna_start": 2333,
"cds_end": null,
"cds_length": 4119,
"cds_start": 2251,
"consequences": [
"frameshift_variant"
],
"exon_count": 22,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000681142.1",
"gene_hgnc_id": 1058,
"gene_symbol": "BLM",
"hgvs_c": "c.2250_2251insAAAT",
"hgvs_p": "p.Leu751fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000506682.1",
"strand": true,
"transcript": "ENST00000681142.1",
"transcript_support_level": null
},
{
"aa_alt": "KS?",
"aa_end": null,
"aa_length": 1286,
"aa_ref": "L",
"aa_start": 751,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4847,
"cdna_start": 2350,
"cds_end": null,
"cds_length": 3861,
"cds_start": 2251,
"consequences": [
"frameshift_variant"
],
"exon_count": 20,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001287247.2",
"gene_hgnc_id": 1058,
"gene_symbol": "BLM",
"hgvs_c": "c.2250_2251insAAAT",
"hgvs_p": "p.Leu751fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001274176.1",
"strand": true,
"transcript": "NM_001287247.2",
"transcript_support_level": null
},
{
"aa_alt": "KS?",
"aa_end": null,
"aa_length": 1221,
"aa_ref": "L",
"aa_start": 555,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4646,
"cdna_start": 1759,
"cds_end": null,
"cds_length": 3666,
"cds_start": 1663,
"consequences": [
"frameshift_variant"
],
"exon_count": 21,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000936445.1",
"gene_hgnc_id": 1058,
"gene_symbol": "BLM",
"hgvs_c": "c.1662_1663insAAAT",
"hgvs_p": "p.Leu555fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606504.1",
"strand": true,
"transcript": "ENST00000936445.1",
"transcript_support_level": null
},
{
"aa_alt": "KS?",
"aa_end": null,
"aa_length": 1198,
"aa_ref": "L",
"aa_start": 532,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3885,
"cdna_start": 1699,
"cds_end": null,
"cds_length": 3597,
"cds_start": 1594,
"consequences": [
"frameshift_variant"
],
"exon_count": 21,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000936447.1",
"gene_hgnc_id": 1058,
"gene_symbol": "BLM",
"hgvs_c": "c.1593_1594insAAAT",
"hgvs_p": "p.Leu532fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606506.1",
"strand": true,
"transcript": "ENST00000936447.1",
"transcript_support_level": null
},
{
"aa_alt": "KS?",
"aa_end": null,
"aa_length": 1042,
"aa_ref": "L",
"aa_start": 376,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5406,
"cdna_start": 2516,
"cds_end": null,
"cds_length": 3129,
"cds_start": 1126,
"consequences": [
"frameshift_variant"
],
"exon_count": 22,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001287248.2",
"gene_hgnc_id": 1058,
"gene_symbol": "BLM",
"hgvs_c": "c.1125_1126insAAAT",
"hgvs_p": "p.Leu376fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001274177.1",
"strand": true,
"transcript": "NM_001287248.2",
"transcript_support_level": null
},
{
"aa_alt": "KS?",
"aa_end": null,
"aa_length": 979,
"aa_ref": "L",
"aa_start": 313,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3999,
"cdna_start": 1109,
"cds_end": null,
"cds_length": 2940,
"cds_start": 937,
"consequences": [
"frameshift_variant"
],
"exon_count": 17,
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