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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: 16-89532525-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=89532525&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 1,
"criteria": [
"BP4"
],
"effects": [
"missense_variant"
],
"gene_symbol": "SPG7",
"hgnc_id": 11237,
"hgvs_c": "c.1213G>A",
"hgvs_p": "p.Val405Ile",
"inheritance_mode": "AR,AD",
"pathogenic_score": 0,
"score": -1,
"transcript": "NM_001363850.1",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4",
"acmg_score": -1,
"allele_count_reference_population": 76,
"alphamissense_prediction": null,
"alphamissense_score": 0.0805,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.16,
"chr": "16",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "Hereditary spastic paraplegia 7,Inborn genetic diseases,not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:5",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.3447648882865906,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 795,
"aa_ref": "V",
"aa_start": 405,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3076,
"cdna_start": 1228,
"cds_end": null,
"cds_length": 2388,
"cds_start": 1213,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_003119.4",
"gene_hgnc_id": 11237,
"gene_symbol": "SPG7",
"hgvs_c": "c.1213G>A",
"hgvs_p": "p.Val405Ile",
"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": "I",
"aa_end": null,
"aa_length": 795,
"aa_ref": "V",
"aa_start": 405,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3076,
"cdna_start": 1228,
"cds_end": null,
"cds_length": 2388,
"cds_start": 1213,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000645818.2",
"gene_hgnc_id": 11237,
"gene_symbol": "SPG7",
"hgvs_c": "c.1213G>A",
"hgvs_p": "p.Val405Ile",
"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": "I",
"aa_end": null,
"aa_length": 788,
"aa_ref": "V",
"aa_start": 398,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3026,
"cdna_start": 1200,
"cds_end": null,
"cds_length": 2367,
"cds_start": 1192,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000268704.7",
"gene_hgnc_id": 11237,
"gene_symbol": "SPG7",
"hgvs_c": "c.1192G>A",
"hgvs_p": "p.Val398Ile",
"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": "I",
"aa_end": null,
"aa_length": 489,
"aa_ref": "V",
"aa_start": 405,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2288,
"cdna_start": 1220,
"cds_end": null,
"cds_length": 1470,
"cds_start": 1213,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000341316.6",
"gene_hgnc_id": 11237,
"gene_symbol": "SPG7",
"hgvs_c": "c.1213G>A",
"hgvs_p": "p.Val405Ile",
"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": "I",
"aa_end": null,
"aa_length": 825,
"aa_ref": "V",
"aa_start": 435,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3149,
"cdna_start": 1303,
"cds_end": null,
"cds_length": 2478,
"cds_start": 1303,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000918773.1",
"gene_hgnc_id": 11237,
"gene_symbol": "SPG7",
"hgvs_c": "c.1303G>A",
"hgvs_p": "p.Val435Ile",
"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": "I",
"aa_end": null,
"aa_length": 820,
"aa_ref": "V",
"aa_start": 405,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3147,
"cdna_start": 1228,
"cds_end": null,
"cds_length": 2463,
"cds_start": 1213,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000892261.1",
"gene_hgnc_id": 11237,
"gene_symbol": "SPG7",
"hgvs_c": "c.1213G>A",
"hgvs_p": "p.Val405Ile",
"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": "I",
"aa_end": null,
"aa_length": 809,
"aa_ref": "V",
"aa_start": 405,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3301,
"cdna_start": 1243,
"cds_end": null,
"cds_length": 2430,
"cds_start": 1213,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001363850.1",
"gene_hgnc_id": 11237,
"gene_symbol": "SPG7",
"hgvs_c": "c.1213G>A",
"hgvs_p": "p.Val405Ile",
"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": "I",
"aa_end": null,
"aa_length": 809,
"aa_ref": "V",
"aa_start": 405,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3266,
"cdna_start": 1228,
"cds_end": null,
"cds_length": 2430,
"cds_start": 1213,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000645063.1",
"gene_hgnc_id": 11237,
"gene_symbol": "SPG7",
"hgvs_c": "c.1213G>A",
"hgvs_p": "p.Val405Ile",
"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": "I",
"aa_end": null,
"aa_length": 809,
"aa_ref": "V",
"aa_start": 405,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3108,
"cdna_start": 1228,
"cds_end": null,
"cds_length": 2430,
"cds_start": 1213,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000965633.1",
"gene_hgnc_id": 11237,
"gene_symbol": "SPG7",
"hgvs_c": "c.1213G>A",
"hgvs_p": "p.Val405Ile",
"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": "I",
"aa_end": null,
"aa_length": 807,
"aa_ref": "V",
"aa_start": 405,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3104,
"cdna_start": 1229,
"cds_end": null,
"cds_length": 2424,
"cds_start": 1213,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000965632.1",
"gene_hgnc_id": 11237,
"gene_symbol": "SPG7",
"hgvs_c": "c.1213G>A",
"hgvs_p": "p.Val405Ile",
"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": "I",
"aa_end": null,
"aa_length": 794,
"aa_ref": "V",
"aa_start": 405,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3081,
"cdna_start": 1236,
"cds_end": null,
"cds_length": 2385,
"cds_start": 1213,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000918772.1",
"gene_hgnc_id": 11237,
"gene_symbol": "SPG7",
"hgvs_c": "c.1213G>A",
"hgvs_p": "p.Val405Ile",
"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": "I",
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"aa_length": 781,
"aa_ref": "V",
"aa_start": 391,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3051,
"cdna_start": 1212,
"cds_end": null,
"cds_length": 2346,
"cds_start": 1171,
"consequences": [
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],
"exon_count": 17,
"exon_rank": 9,
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"feature": "ENST00000918771.1",
"gene_hgnc_id": 11237,
"gene_symbol": "SPG7",
"hgvs_c": "c.1171G>A",
"hgvs_p": "p.Val391Ile",
"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
},
{
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"aa_length": 780,
"aa_ref": "V",
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"biotype": "protein_coding",
"canonical": false,
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"cdna_length": 3012,
"cdna_start": 1228,
"cds_end": null,
"cds_length": 2343,
"cds_start": 1213,
"consequences": [
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],
"exon_count": 17,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000644781.1",
"gene_hgnc_id": 11237,
"gene_symbol": "SPG7",
"hgvs_c": "c.1213G>A",
"hgvs_p": "p.Val405Ile",
"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": "I",
"aa_end": null,
"aa_length": 758,
"aa_ref": "V",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2507,
"cdna_start": 1264,
"cds_end": null,
"cds_length": 2277,
"cds_start": 1213,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000643649.1",
"gene_hgnc_id": 11237,
"gene_symbol": "SPG7",
"hgvs_c": "c.1213G>A",
"hgvs_p": "p.Val405Ile",
"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": "I",
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"aa_length": 751,
"aa_ref": "V",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3099,
"cdna_start": 1269,
"cds_end": null,
"cds_length": 2256,
"cds_start": 1081,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000646303.1",
"gene_hgnc_id": 11237,
"gene_symbol": "SPG7",
"hgvs_c": "c.1081G>A",
"hgvs_p": "p.Val361Ile",
"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": "I",
"aa_end": null,
"aa_length": 730,
"aa_ref": "V",
"aa_start": 340,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2872,
"cdna_start": 1032,
"cds_end": null,
"cds_length": 2193,
"cds_start": 1018,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000892262.1",
"gene_hgnc_id": 11237,
"gene_symbol": "SPG7",
"hgvs_c": "c.1018G>A",
"hgvs_p": "p.Val340Ile",
"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": "I",
"aa_end": null,
"aa_length": 687,
"aa_ref": "V",
"aa_start": 405,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2750,
"cdna_start": 1227,
"cds_end": null,
"cds_length": 2064,
"cds_start": 1213,
"consequences": [
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],
"exon_count": 15,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000965630.1",
"gene_hgnc_id": 11237,
"gene_symbol": "SPG7",
"hgvs_c": "c.1213G>A",
"hgvs_p": "p.Val405Ile",
"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
},
{
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"aa_length": 680,
"aa_ref": "V",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2689,
"cdna_start": 870,
"cds_end": null,
"cds_length": 2043,
"cds_start": 868,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000644671.1",
"gene_hgnc_id": 11237,
"gene_symbol": "SPG7",
"hgvs_c": "c.868G>A",
"hgvs_p": "p.Val290Ile",
"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": "I",
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"aa_length": 672,
"aa_ref": "V",
"aa_start": 282,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2701,
"cdna_start": 857,
"cds_end": null,
"cds_length": 2019,
"cds_start": 844,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000965631.1",
"gene_hgnc_id": 11237,
"gene_symbol": "SPG7",
"hgvs_c": "c.844G>A",
"hgvs_p": "p.Val282Ile",
"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": "I",
"aa_end": null,
"aa_length": 661,
"aa_ref": "V",
"aa_start": 405,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2661,
"cdna_start": 1227,
"cds_end": null,
"cds_length": 1986,
"cds_start": 1213,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000965634.1",
"gene_hgnc_id": 11237,
"gene_symbol": "SPG7",
"hgvs_c": "c.1213G>A",
"hgvs_p": "p.Val405Ile",
"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": "I",
"aa_end": null,
"aa_length": 659,
"aa_ref": "V",
"aa_start": 269,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3330,
"cdna_start": 1500,
"cds_end": null,
"cds_length": 1980,
"cds_start": 805,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000647079.1",
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