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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: 2-32145004-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=32145004&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PVS1",
"PS3",
"PM2",
"PP5_Very_Strong"
],
"effects": [
"stop_gained"
],
"gene_symbol": "SPAST",
"hgnc_id": 11233,
"hgvs_c": "c.1684C>T",
"hgvs_p": "p.Arg562*",
"inheritance_mode": "AD,AR",
"pathogenic_score": 22,
"score": 22,
"transcript": "NM_014946.4",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PS3,PM2,PP5_Very_Strong",
"acmg_score": 22,
"allele_count_reference_population": 2,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.54,
"chr": "2",
"clinvar_classification": "Pathogenic",
"clinvar_disease": "Hereditary spastic paraplegia,Hereditary spastic paraplegia 4,not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:9",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.5400000214576721,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 616,
"aa_ref": "R",
"aa_start": 562,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5268,
"cdna_start": 1960,
"cds_end": null,
"cds_length": 1851,
"cds_start": 1684,
"consequences": [
"stop_gained"
],
"exon_count": 17,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_014946.4",
"gene_hgnc_id": 11233,
"gene_symbol": "SPAST",
"hgvs_c": "c.1684C>T",
"hgvs_p": "p.Arg562*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000315285.9",
"protein_coding": true,
"protein_id": "NP_055761.2",
"strand": true,
"transcript": "NM_014946.4",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 616,
"aa_ref": "R",
"aa_start": 562,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5268,
"cdna_start": 1960,
"cds_end": null,
"cds_length": 1851,
"cds_start": 1684,
"consequences": [
"stop_gained"
],
"exon_count": 17,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000315285.9",
"gene_hgnc_id": 11233,
"gene_symbol": "SPAST",
"hgvs_c": "c.1684C>T",
"hgvs_p": "p.Arg562*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_014946.4",
"protein_coding": true,
"protein_id": "ENSP00000320885.3",
"strand": true,
"transcript": "ENST00000315285.9",
"transcript_support_level": 1
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 615,
"aa_ref": "R",
"aa_start": 561,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2084,
"cdna_start": 1731,
"cds_end": null,
"cds_length": 1848,
"cds_start": 1681,
"consequences": [
"stop_gained"
],
"exon_count": 17,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000621856.2",
"gene_hgnc_id": 11233,
"gene_symbol": "SPAST",
"hgvs_c": "c.1681C>T",
"hgvs_p": "p.Arg561*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000482496.2",
"strand": true,
"transcript": "ENST00000621856.2",
"transcript_support_level": 1
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 651,
"aa_ref": "R",
"aa_start": 597,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3484,
"cdna_start": 2039,
"cds_end": null,
"cds_length": 1956,
"cds_start": 1789,
"consequences": [
"stop_gained"
],
"exon_count": 18,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000713716.1",
"gene_hgnc_id": 11233,
"gene_symbol": "SPAST",
"hgvs_c": "c.1789C>T",
"hgvs_p": "p.Arg597*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000519019.1",
"strand": true,
"transcript": "ENST00000713716.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 615,
"aa_ref": "R",
"aa_start": 561,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5265,
"cdna_start": 1957,
"cds_end": null,
"cds_length": 1848,
"cds_start": 1681,
"consequences": [
"stop_gained"
],
"exon_count": 17,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_001363823.2",
"gene_hgnc_id": 11233,
"gene_symbol": "SPAST",
"hgvs_c": "c.1681C>T",
"hgvs_p": "p.Arg561*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001350752.1",
"strand": true,
"transcript": "NM_001363823.2",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 614,
"aa_ref": "R",
"aa_start": 560,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5120,
"cdna_start": 1815,
"cds_end": null,
"cds_length": 1845,
"cds_start": 1678,
"consequences": [
"stop_gained"
],
"exon_count": 17,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000933132.1",
"gene_hgnc_id": 11233,
"gene_symbol": "SPAST",
"hgvs_c": "c.1678C>T",
"hgvs_p": "p.Arg560*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000603191.1",
"strand": true,
"transcript": "ENST00000933132.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 591,
"aa_ref": "R",
"aa_start": 537,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2996,
"cdna_start": 1609,
"cds_end": null,
"cds_length": 1776,
"cds_start": 1609,
"consequences": [
"stop_gained"
],
"exon_count": 16,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000647133.2",
"gene_hgnc_id": 11233,
"gene_symbol": "SPAST",
"hgvs_c": "c.1609C>T",
"hgvs_p": "p.Arg537*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000493742.2",
"strand": true,
"transcript": "ENST00000647133.2",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 584,
"aa_ref": "R",
"aa_start": 530,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5172,
"cdna_start": 1864,
"cds_end": null,
"cds_length": 1755,
"cds_start": 1588,
"consequences": [
"stop_gained"
],
"exon_count": 16,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_199436.2",
"gene_hgnc_id": 11233,
"gene_symbol": "SPAST",
"hgvs_c": "c.1588C>T",
"hgvs_p": "p.Arg530*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_955468.1",
"strand": true,
"transcript": "NM_199436.2",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 584,
"aa_ref": "R",
"aa_start": 530,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5117,
"cdna_start": 1809,
"cds_end": null,
"cds_length": 1755,
"cds_start": 1588,
"consequences": [
"stop_gained"
],
"exon_count": 16,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000646571.1",
"gene_hgnc_id": 11233,
"gene_symbol": "SPAST",
"hgvs_c": "c.1588C>T",
"hgvs_p": "p.Arg530*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000495015.1",
"strand": true,
"transcript": "ENST00000646571.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 583,
"aa_ref": "R",
"aa_start": 529,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5169,
"cdna_start": 1861,
"cds_end": null,
"cds_length": 1752,
"cds_start": 1585,
"consequences": [
"stop_gained"
],
"exon_count": 16,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_001363875.2",
"gene_hgnc_id": 11233,
"gene_symbol": "SPAST",
"hgvs_c": "c.1585C>T",
"hgvs_p": "p.Arg529*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001350804.1",
"strand": true,
"transcript": "NM_001363875.2",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 583,
"aa_ref": "R",
"aa_start": 529,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2107,
"cdna_start": 1589,
"cds_end": null,
"cds_length": 1752,
"cds_start": 1585,
"consequences": [
"stop_gained"
],
"exon_count": 16,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000642455.1",
"gene_hgnc_id": 11233,
"gene_symbol": "SPAST",
"hgvs_c": "c.1585C>T",
"hgvs_p": "p.Arg529*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000493827.1",
"strand": true,
"transcript": "ENST00000642455.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 574,
"aa_ref": "R",
"aa_start": 520,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4586,
"cdna_start": 1860,
"cds_end": null,
"cds_length": 1725,
"cds_start": 1558,
"consequences": [
"stop_gained"
],
"exon_count": 15,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000933133.1",
"gene_hgnc_id": 11233,
"gene_symbol": "SPAST",
"hgvs_c": "c.1558C>T",
"hgvs_p": "p.Arg520*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000603192.1",
"strand": true,
"transcript": "ENST00000933133.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 571,
"aa_ref": "R",
"aa_start": 562,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2335,
"cdna_start": 1684,
"cds_end": null,
"cds_length": 1716,
"cds_start": 1684,
"consequences": [
"stop_gained"
],
"exon_count": 17,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000644408.2",
"gene_hgnc_id": 11233,
"gene_symbol": "SPAST",
"hgvs_c": "c.1684C>T",
"hgvs_p": "p.Arg562*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000493748.2",
"strand": true,
"transcript": "ENST00000644408.2",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 567,
"aa_ref": "R",
"aa_start": 513,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2244,
"cdna_start": 1537,
"cds_end": null,
"cds_length": 1704,
"cds_start": 1537,
"consequences": [
"stop_gained"
],
"exon_count": 15,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000642281.2",
"gene_hgnc_id": 11233,
"gene_symbol": "SPAST",
"hgvs_c": "c.1537C>T",
"hgvs_p": "p.Arg513*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000496211.2",
"strand": true,
"transcript": "ENST00000642281.2",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 558,
"aa_ref": "R",
"aa_start": 504,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4953,
"cdna_start": 1645,
"cds_end": null,
"cds_length": 1677,
"cds_start": 1510,
"consequences": [
"stop_gained"
],
"exon_count": 15,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000933131.1",
"gene_hgnc_id": 11233,
"gene_symbol": "SPAST",
"hgvs_c": "c.1510C>T",
"hgvs_p": "p.Arg504*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000603190.1",
"strand": true,
"transcript": "ENST00000933131.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 530,
"aa_ref": "R",
"aa_start": 476,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4701,
"cdna_start": 1548,
"cds_end": null,
"cds_length": 1593,
"cds_start": 1426,
"consequences": [
"stop_gained"
],
"exon_count": 17,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000642999.1",
"gene_hgnc_id": 11233,
"gene_symbol": "SPAST",
"hgvs_c": "c.1426C>T",
"hgvs_p": "p.Arg476*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000496589.1",
"strand": true,
"transcript": "ENST00000642999.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 498,
"aa_ref": "R",
"aa_start": 444,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4732,
"cdna_start": 1450,
"cds_end": null,
"cds_length": 1497,
"cds_start": 1330,
"consequences": [
"stop_gained"
],
"exon_count": 16,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000644954.1",
"gene_hgnc_id": 11233,
"gene_symbol": "SPAST",
"hgvs_c": "c.1330C>T",
"hgvs_p": "p.Arg444*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000494312.1",
"strand": true,
"transcript": "ENST00000644954.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
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"aa_length": 341,
"aa_ref": "R",
"aa_start": 288,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1029,
"cdna_start": 863,
"cds_end": null,
"cds_length": 1028,
"cds_start": 862,
"consequences": [
"stop_gained"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000645730.1",
"gene_hgnc_id": 11233,
"gene_symbol": "SPAST",
"hgvs_c": "c.862C>T",
"hgvs_p": "p.Arg288*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000496072.1",
"strand": true,
"transcript": "ENST00000645730.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 519,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5101,
"cdna_start": null,
"cds_end": null,
"cds_length": 1560,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001377959.1",
"gene_hgnc_id": 11233,
"gene_symbol": "SPAST",
"hgvs_c": "c.1520+1589C>T",
"hgvs_p": null,
"intron_rank": 13,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001364888.1",
"strand": true,
"transcript": "NM_001377959.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 519,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4825,
"cdna_start": null,
"cds_end": null,
"cds_length": 1560,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000642751.2",
"gene_hgnc_id": 11233,
"gene_symbol": "SPAST",
"hgvs_c": "c.1520+1589C>T",
"hgvs_p": null,
"intron_rank": 13,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000495478.2",
"strand": true,
"transcript": "ENST00000642751.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 494,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1870,
"cdna_start": null,
"cds_end": null,
"cds_length": 1485,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000645671.2",
"gene_hgnc_id": 11233,
"gene_symbol": "SPAST",
"hgvs_c": "c.1445+1589C>T",
"hgvs_p": null,
"intron_rank": 12,
"intron_rank_end": null,
"mane_plus": null,
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