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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: 16-89531999-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=89531999&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 6,
"criteria": [
"BP4_Strong",
"BP6",
"BP7"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "SPG7",
"hgnc_id": 11237,
"hgvs_c": "c.1083G>A",
"hgvs_p": "p.Ala361Ala",
"inheritance_mode": "AR,AD",
"pathogenic_score": 0,
"score": -6,
"transcript": "NM_001363850.1",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong,BP6,BP7",
"acmg_score": -6,
"allele_count_reference_population": 547,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.72,
"chr": "16",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_disease": "Hereditary spastic paraplegia,Hereditary spastic paraplegia 7,SPG7-related disorder,not provided,not specified",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:2 LB:2 B:2",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.7200000286102295,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 795,
"aa_ref": "A",
"aa_start": 361,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3076,
"cdna_start": 1098,
"cds_end": null,
"cds_length": 2388,
"cds_start": 1083,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_003119.4",
"gene_hgnc_id": 11237,
"gene_symbol": "SPG7",
"hgvs_c": "c.1083G>A",
"hgvs_p": "p.Ala361Ala",
"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": "A",
"aa_end": null,
"aa_length": 795,
"aa_ref": "A",
"aa_start": 361,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3076,
"cdna_start": 1098,
"cds_end": null,
"cds_length": 2388,
"cds_start": 1083,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000645818.2",
"gene_hgnc_id": 11237,
"gene_symbol": "SPG7",
"hgvs_c": "c.1083G>A",
"hgvs_p": "p.Ala361Ala",
"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": "A",
"aa_end": null,
"aa_length": 788,
"aa_ref": "A",
"aa_start": 354,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3026,
"cdna_start": 1070,
"cds_end": null,
"cds_length": 2367,
"cds_start": 1062,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000268704.7",
"gene_hgnc_id": 11237,
"gene_symbol": "SPG7",
"hgvs_c": "c.1062G>A",
"hgvs_p": "p.Ala354Ala",
"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": "A",
"aa_end": null,
"aa_length": 489,
"aa_ref": "A",
"aa_start": 361,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2288,
"cdna_start": 1090,
"cds_end": null,
"cds_length": 1470,
"cds_start": 1083,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000341316.6",
"gene_hgnc_id": 11237,
"gene_symbol": "SPG7",
"hgvs_c": "c.1083G>A",
"hgvs_p": "p.Ala361Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000341157.2",
"strand": true,
"transcript": "ENST00000341316.6",
"transcript_support_level": 1
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 825,
"aa_ref": "A",
"aa_start": 391,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3149,
"cdna_start": 1173,
"cds_end": null,
"cds_length": 2478,
"cds_start": 1173,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000918773.1",
"gene_hgnc_id": 11237,
"gene_symbol": "SPG7",
"hgvs_c": "c.1173G>A",
"hgvs_p": "p.Ala391Ala",
"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": "A",
"aa_end": null,
"aa_length": 820,
"aa_ref": "A",
"aa_start": 361,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3147,
"cdna_start": 1098,
"cds_end": null,
"cds_length": 2463,
"cds_start": 1083,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000892261.1",
"gene_hgnc_id": 11237,
"gene_symbol": "SPG7",
"hgvs_c": "c.1083G>A",
"hgvs_p": "p.Ala361Ala",
"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": "A",
"aa_end": null,
"aa_length": 809,
"aa_ref": "A",
"aa_start": 361,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3301,
"cdna_start": 1113,
"cds_end": null,
"cds_length": 2430,
"cds_start": 1083,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001363850.1",
"gene_hgnc_id": 11237,
"gene_symbol": "SPG7",
"hgvs_c": "c.1083G>A",
"hgvs_p": "p.Ala361Ala",
"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": "A",
"aa_end": null,
"aa_length": 809,
"aa_ref": "A",
"aa_start": 361,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3266,
"cdna_start": 1098,
"cds_end": null,
"cds_length": 2430,
"cds_start": 1083,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000645063.1",
"gene_hgnc_id": 11237,
"gene_symbol": "SPG7",
"hgvs_c": "c.1083G>A",
"hgvs_p": "p.Ala361Ala",
"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": "A",
"aa_end": null,
"aa_length": 809,
"aa_ref": "A",
"aa_start": 361,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3108,
"cdna_start": 1098,
"cds_end": null,
"cds_length": 2430,
"cds_start": 1083,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000965633.1",
"gene_hgnc_id": 11237,
"gene_symbol": "SPG7",
"hgvs_c": "c.1083G>A",
"hgvs_p": "p.Ala361Ala",
"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": "A",
"aa_end": null,
"aa_length": 807,
"aa_ref": "A",
"aa_start": 361,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3104,
"cdna_start": 1099,
"cds_end": null,
"cds_length": 2424,
"cds_start": 1083,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000965632.1",
"gene_hgnc_id": 11237,
"gene_symbol": "SPG7",
"hgvs_c": "c.1083G>A",
"hgvs_p": "p.Ala361Ala",
"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": "A",
"aa_end": null,
"aa_length": 794,
"aa_ref": "A",
"aa_start": 361,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3081,
"cdna_start": 1106,
"cds_end": null,
"cds_length": 2385,
"cds_start": 1083,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000918772.1",
"gene_hgnc_id": 11237,
"gene_symbol": "SPG7",
"hgvs_c": "c.1083G>A",
"hgvs_p": "p.Ala361Ala",
"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": "A",
"aa_end": null,
"aa_length": 781,
"aa_ref": "A",
"aa_start": 347,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3051,
"cdna_start": 1082,
"cds_end": null,
"cds_length": 2346,
"cds_start": 1041,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000918771.1",
"gene_hgnc_id": 11237,
"gene_symbol": "SPG7",
"hgvs_c": "c.1041G>A",
"hgvs_p": "p.Ala347Ala",
"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": "A",
"aa_end": null,
"aa_length": 780,
"aa_ref": "A",
"aa_start": 361,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3012,
"cdna_start": 1098,
"cds_end": null,
"cds_length": 2343,
"cds_start": 1083,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000644781.1",
"gene_hgnc_id": 11237,
"gene_symbol": "SPG7",
"hgvs_c": "c.1083G>A",
"hgvs_p": "p.Ala361Ala",
"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": "A",
"aa_end": null,
"aa_length": 758,
"aa_ref": "A",
"aa_start": 361,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2507,
"cdna_start": 1134,
"cds_end": null,
"cds_length": 2277,
"cds_start": 1083,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000643649.1",
"gene_hgnc_id": 11237,
"gene_symbol": "SPG7",
"hgvs_c": "c.1083G>A",
"hgvs_p": "p.Ala361Ala",
"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": "A",
"aa_end": null,
"aa_length": 751,
"aa_ref": "A",
"aa_start": 317,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3099,
"cdna_start": 1139,
"cds_end": null,
"cds_length": 2256,
"cds_start": 951,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000646303.1",
"gene_hgnc_id": 11237,
"gene_symbol": "SPG7",
"hgvs_c": "c.951G>A",
"hgvs_p": "p.Ala317Ala",
"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": "A",
"aa_end": null,
"aa_length": 730,
"aa_ref": "A",
"aa_start": 296,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2872,
"cdna_start": 902,
"cds_end": null,
"cds_length": 2193,
"cds_start": 888,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000892262.1",
"gene_hgnc_id": 11237,
"gene_symbol": "SPG7",
"hgvs_c": "c.888G>A",
"hgvs_p": "p.Ala296Ala",
"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": "A",
"aa_end": null,
"aa_length": 687,
"aa_ref": "A",
"aa_start": 361,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2750,
"cdna_start": 1097,
"cds_end": null,
"cds_length": 2064,
"cds_start": 1083,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000965630.1",
"gene_hgnc_id": 11237,
"gene_symbol": "SPG7",
"hgvs_c": "c.1083G>A",
"hgvs_p": "p.Ala361Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000635689.1",
"strand": true,
"transcript": "ENST00000965630.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 680,
"aa_ref": "A",
"aa_start": 246,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2689,
"cdna_start": 740,
"cds_end": null,
"cds_length": 2043,
"cds_start": 738,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000644671.1",
"gene_hgnc_id": 11237,
"gene_symbol": "SPG7",
"hgvs_c": "c.738G>A",
"hgvs_p": "p.Ala246Ala",
"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": "A",
"aa_end": null,
"aa_length": 672,
"aa_ref": "A",
"aa_start": 238,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2701,
"cdna_start": 727,
"cds_end": null,
"cds_length": 2019,
"cds_start": 714,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000965631.1",
"gene_hgnc_id": 11237,
"gene_symbol": "SPG7",
"hgvs_c": "c.714G>A",
"hgvs_p": "p.Ala238Ala",
"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": "A",
"aa_end": null,
"aa_length": 661,
"aa_ref": "A",
"aa_start": 361,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2661,
"cdna_start": 1097,
"cds_end": null,
"cds_length": 1986,
"cds_start": 1083,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000965634.1",
"gene_hgnc_id": 11237,
"gene_symbol": "SPG7",
"hgvs_c": "c.1083G>A",
"hgvs_p": "p.Ala361Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000635693.1",
"strand": true,
"transcript": "ENST00000965634.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 659,
"aa_ref": "A",
"aa_start": 225,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3330,
"cdna_start": 1370,
"cds_end": null,
"cds_length": 1980,
"cds_start": 675,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 8,
"exon_rank_end": null,
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