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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: 16-89553029-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=89553029&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 11,
"criteria": [
"BP4_Moderate",
"BP6_Very_Strong",
"BP7"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "SPG7",
"hgnc_id": 11237,
"hgvs_c": "c.1830C>T",
"hgvs_p": "p.Leu610Leu",
"inheritance_mode": "AR,AD",
"pathogenic_score": 0,
"score": -11,
"transcript": "NM_001363850.1",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6_Very_Strong,BP7",
"acmg_score": -11,
"allele_count_reference_population": 49,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.65,
"chr": "16",
"clinvar_classification": "Likely benign",
"clinvar_disease": "Hereditary spastic paraplegia 7,not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:3",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.0860000029206276,
"computational_source_selected": "REVEL",
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 795,
"aa_ref": "L",
"aa_start": 610,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3076,
"cdna_start": 1845,
"cds_end": null,
"cds_length": 2388,
"cds_start": 1830,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_003119.4",
"gene_hgnc_id": 11237,
"gene_symbol": "SPG7",
"hgvs_c": "c.1830C>T",
"hgvs_p": "p.Leu610Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000645818.2",
"protein_coding": true,
"protein_id": "NP_003110.1",
"strand": true,
"transcript": "NM_003119.4",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 795,
"aa_ref": "L",
"aa_start": 610,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3076,
"cdna_start": 1845,
"cds_end": null,
"cds_length": 2388,
"cds_start": 1830,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000645818.2",
"gene_hgnc_id": 11237,
"gene_symbol": "SPG7",
"hgvs_c": "c.1830C>T",
"hgvs_p": "p.Leu610Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_003119.4",
"protein_coding": true,
"protein_id": "ENSP00000495795.2",
"strand": true,
"transcript": "ENST00000645818.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 788,
"aa_ref": "L",
"aa_start": 603,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3026,
"cdna_start": 1817,
"cds_end": null,
"cds_length": 2367,
"cds_start": 1809,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000268704.7",
"gene_hgnc_id": 11237,
"gene_symbol": "SPG7",
"hgvs_c": "c.1809C>T",
"hgvs_p": "p.Leu603Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000268704.3",
"strand": true,
"transcript": "ENST00000268704.7",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 825,
"aa_ref": "L",
"aa_start": 640,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3149,
"cdna_start": 1920,
"cds_end": null,
"cds_length": 2478,
"cds_start": 1920,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000918773.1",
"gene_hgnc_id": 11237,
"gene_symbol": "SPG7",
"hgvs_c": "c.1920C>T",
"hgvs_p": "p.Leu640Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000588832.1",
"strand": true,
"transcript": "ENST00000918773.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 820,
"aa_ref": "L",
"aa_start": 635,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3147,
"cdna_start": 1920,
"cds_end": null,
"cds_length": 2463,
"cds_start": 1905,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000892261.1",
"gene_hgnc_id": 11237,
"gene_symbol": "SPG7",
"hgvs_c": "c.1905C>T",
"hgvs_p": "p.Leu635Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000562320.1",
"strand": true,
"transcript": "ENST00000892261.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 809,
"aa_ref": "L",
"aa_start": 610,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3301,
"cdna_start": 1860,
"cds_end": null,
"cds_length": 2430,
"cds_start": 1830,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_001363850.1",
"gene_hgnc_id": 11237,
"gene_symbol": "SPG7",
"hgvs_c": "c.1830C>T",
"hgvs_p": "p.Leu610Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001350779.1",
"strand": true,
"transcript": "NM_001363850.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 809,
"aa_ref": "L",
"aa_start": 610,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3266,
"cdna_start": 1845,
"cds_end": null,
"cds_length": 2430,
"cds_start": 1830,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000645063.1",
"gene_hgnc_id": 11237,
"gene_symbol": "SPG7",
"hgvs_c": "c.1830C>T",
"hgvs_p": "p.Leu610Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000493590.1",
"strand": true,
"transcript": "ENST00000645063.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 809,
"aa_ref": "L",
"aa_start": 624,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3108,
"cdna_start": 1887,
"cds_end": null,
"cds_length": 2430,
"cds_start": 1872,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000965633.1",
"gene_hgnc_id": 11237,
"gene_symbol": "SPG7",
"hgvs_c": "c.1872C>T",
"hgvs_p": "p.Leu624Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000635692.1",
"strand": true,
"transcript": "ENST00000965633.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 807,
"aa_ref": "L",
"aa_start": 610,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3104,
"cdna_start": 1846,
"cds_end": null,
"cds_length": 2424,
"cds_start": 1830,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000965632.1",
"gene_hgnc_id": 11237,
"gene_symbol": "SPG7",
"hgvs_c": "c.1830C>T",
"hgvs_p": "p.Leu610Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000635691.1",
"strand": true,
"transcript": "ENST00000965632.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 794,
"aa_ref": "L",
"aa_start": 609,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3081,
"cdna_start": 1850,
"cds_end": null,
"cds_length": 2385,
"cds_start": 1827,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000918772.1",
"gene_hgnc_id": 11237,
"gene_symbol": "SPG7",
"hgvs_c": "c.1827C>T",
"hgvs_p": "p.Leu609Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000588831.1",
"strand": true,
"transcript": "ENST00000918772.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 781,
"aa_ref": "L",
"aa_start": 596,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3051,
"cdna_start": 1829,
"cds_end": null,
"cds_length": 2346,
"cds_start": 1788,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000918771.1",
"gene_hgnc_id": 11237,
"gene_symbol": "SPG7",
"hgvs_c": "c.1788C>T",
"hgvs_p": "p.Leu596Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000588830.1",
"strand": true,
"transcript": "ENST00000918771.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 780,
"aa_ref": "L",
"aa_start": 595,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3012,
"cdna_start": 1800,
"cds_end": null,
"cds_length": 2343,
"cds_start": 1785,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000644781.1",
"gene_hgnc_id": 11237,
"gene_symbol": "SPG7",
"hgvs_c": "c.1785C>T",
"hgvs_p": "p.Leu595Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000495473.1",
"strand": true,
"transcript": "ENST00000644781.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 758,
"aa_ref": "L",
"aa_start": 573,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2507,
"cdna_start": 1770,
"cds_end": null,
"cds_length": 2277,
"cds_start": 1719,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000643649.1",
"gene_hgnc_id": 11237,
"gene_symbol": "SPG7",
"hgvs_c": "c.1719C>T",
"hgvs_p": "p.Leu573Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000494806.1",
"strand": true,
"transcript": "ENST00000643649.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 751,
"aa_ref": "L",
"aa_start": 566,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3099,
"cdna_start": 1886,
"cds_end": null,
"cds_length": 2256,
"cds_start": 1698,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000646303.1",
"gene_hgnc_id": 11237,
"gene_symbol": "SPG7",
"hgvs_c": "c.1698C>T",
"hgvs_p": "p.Leu566Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000494160.1",
"strand": true,
"transcript": "ENST00000646303.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 730,
"aa_ref": "L",
"aa_start": 545,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2872,
"cdna_start": 1649,
"cds_end": null,
"cds_length": 2193,
"cds_start": 1635,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000892262.1",
"gene_hgnc_id": 11237,
"gene_symbol": "SPG7",
"hgvs_c": "c.1635C>T",
"hgvs_p": "p.Leu545Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000562321.1",
"strand": true,
"transcript": "ENST00000892262.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 680,
"aa_ref": "L",
"aa_start": 495,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2689,
"cdna_start": 1487,
"cds_end": null,
"cds_length": 2043,
"cds_start": 1485,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000644671.1",
"gene_hgnc_id": 11237,
"gene_symbol": "SPG7",
"hgvs_c": "c.1485C>T",
"hgvs_p": "p.Leu495Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000495999.1",
"strand": true,
"transcript": "ENST00000644671.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 672,
"aa_ref": "L",
"aa_start": 487,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2701,
"cdna_start": 1474,
"cds_end": null,
"cds_length": 2019,
"cds_start": 1461,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000965631.1",
"gene_hgnc_id": 11237,
"gene_symbol": "SPG7",
"hgvs_c": "c.1461C>T",
"hgvs_p": "p.Leu487Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000635690.1",
"strand": true,
"transcript": "ENST00000965631.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_length": 659,
"aa_ref": "L",
"aa_start": 474,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3330,
"cdna_start": 2117,
"cds_end": null,
"cds_length": 1980,
"cds_start": 1422,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000647079.1",
"gene_hgnc_id": 11237,
"gene_symbol": "SPG7",
"hgvs_c": "c.1422C>T",
"hgvs_p": "p.Leu474Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000495967.1",
"strand": true,
"transcript": "ENST00000647079.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_length": 641,
"aa_ref": "L",
"aa_start": 456,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2593,
"cdna_start": 1389,
"cds_end": null,
"cds_length": 1926,
"cds_start": 1368,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000645897.1",
"gene_hgnc_id": 11237,
"gene_symbol": "SPG7",
"hgvs_c": "c.1368C>T",
"hgvs_p": "p.Leu456Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000495293.1",
"strand": true,
"transcript": "ENST00000645897.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 616,
"aa_ref": "L",
"aa_start": 481,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2644,
"cdna_start": 1445,
"cds_end": null,
"cds_length": 1851,
"cds_start": 1443,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000647032.1",
"gene_hgnc_id": 11237,
"gene_symbol": "SPG7",
"hgvs_c": "c.1443C>T",
"hgvs_p": "p.Leu481Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000496047.1",
"strand": true,
"transcript": "ENST00000647032.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 493,
"aa_ref": "L",
"aa_start": 294,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2264,
"cdna_start": 890,
"cds_end": null,
"cds_length": 1482,
"cds_start": 882,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 8,
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}