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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: 5-251439-CGG-GGT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=251439&ref=CGG&alt=GGT&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PS1_Very_Strong",
"PM1",
"PM5",
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "SDHA",
"hgnc_id": 10680,
"hgvs_c": "c.1765_1767delCGGinsGGT",
"hgvs_p": "p.Arg589Gly",
"inheritance_mode": "AD,AR",
"pathogenic_score": 13,
"score": 13,
"transcript": "NM_004168.4",
"verdict": "Pathogenic"
},
{
"benign_score": 0,
"criteria": [
"PP3"
],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "ENSG00000286001",
"hgnc_id": null,
"hgvs_c": "n.*498_*500delCGGinsGGT",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 1,
"score": 1,
"transcript": "ENST00000651543.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PS1_Very_Strong,PM1,PM5,PP3",
"acmg_score": 13,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "GGT",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "5",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 664,
"aa_ref": "R",
"aa_start": 589,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2693,
"cdna_start": 1801,
"cds_end": null,
"cds_length": 1995,
"cds_start": 1765,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_004168.4",
"gene_hgnc_id": 10680,
"gene_symbol": "SDHA",
"hgvs_c": "c.1765_1767delCGGinsGGT",
"hgvs_p": "p.Arg589Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000264932.11",
"protein_coding": true,
"protein_id": "NP_004159.2",
"strand": true,
"transcript": "NM_004168.4",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 664,
"aa_ref": "R",
"aa_start": 589,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2693,
"cdna_start": 1801,
"cds_end": null,
"cds_length": 1995,
"cds_start": 1765,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000264932.11",
"gene_hgnc_id": 10680,
"gene_symbol": "SDHA",
"hgvs_c": "c.1765_1767delCGGinsGGT",
"hgvs_p": "p.Arg589Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_004168.4",
"protein_coding": true,
"protein_id": "ENSP00000264932.6",
"strand": true,
"transcript": "ENST00000264932.11",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": true,
"cdna_end": null,
"cdna_length": 3665,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 24,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000651543.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000286001",
"hgvs_c": "n.*498_*500delCGGinsGGT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000499215.1",
"strand": true,
"transcript": "ENST00000651543.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": true,
"cdna_end": null,
"cdna_length": 3665,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 24,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000651543.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000286001",
"hgvs_c": "n.*498_*500delCGGinsGGT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000499215.1",
"strand": true,
"transcript": "ENST00000651543.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 726,
"aa_ref": "R",
"aa_start": 651,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2511,
"cdna_start": 2004,
"cds_end": null,
"cds_length": 2181,
"cds_start": 1951,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000874235.1",
"gene_hgnc_id": 10680,
"gene_symbol": "SDHA",
"hgvs_c": "c.1951_1953delCGGinsGGT",
"hgvs_p": "p.Arg651Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000544294.1",
"strand": true,
"transcript": "ENST00000874235.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 715,
"aa_ref": "R",
"aa_start": 640,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2417,
"cdna_start": 1947,
"cds_end": null,
"cds_length": 2148,
"cds_start": 1918,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000952715.1",
"gene_hgnc_id": 10680,
"gene_symbol": "SDHA",
"hgvs_c": "c.1918_1920delCGGinsGGT",
"hgvs_p": "p.Arg640Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622774.1",
"strand": true,
"transcript": "ENST00000952715.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 682,
"aa_ref": "R",
"aa_start": 607,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2355,
"cdna_start": 1863,
"cds_end": null,
"cds_length": 2049,
"cds_start": 1819,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000874242.1",
"gene_hgnc_id": 10680,
"gene_symbol": "SDHA",
"hgvs_c": "c.1819_1821delCGGinsGGT",
"hgvs_p": "p.Arg607Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000544301.1",
"strand": true,
"transcript": "ENST00000874242.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 681,
"aa_ref": "R",
"aa_start": 606,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2322,
"cdna_start": 1852,
"cds_end": null,
"cds_length": 2046,
"cds_start": 1816,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000952713.1",
"gene_hgnc_id": 10680,
"gene_symbol": "SDHA",
"hgvs_c": "c.1816_1818delCGGinsGGT",
"hgvs_p": "p.Arg606Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622772.1",
"strand": true,
"transcript": "ENST00000952713.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 673,
"aa_ref": "R",
"aa_start": 598,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2306,
"cdna_start": 1839,
"cds_end": null,
"cds_length": 2022,
"cds_start": 1792,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000952712.1",
"gene_hgnc_id": 10680,
"gene_symbol": "SDHA",
"hgvs_c": "c.1792_1794delCGGinsGGT",
"hgvs_p": "p.Arg598Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622771.1",
"strand": true,
"transcript": "ENST00000952712.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 672,
"aa_ref": "R",
"aa_start": 597,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2285,
"cdna_start": 1792,
"cds_end": null,
"cds_length": 2019,
"cds_start": 1789,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000874248.1",
"gene_hgnc_id": 10680,
"gene_symbol": "SDHA",
"hgvs_c": "c.1789_1791delCGGinsGGT",
"hgvs_p": "p.Arg597Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000544307.1",
"strand": true,
"transcript": "ENST00000874248.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 666,
"aa_ref": "R",
"aa_start": 591,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2333,
"cdna_start": 1846,
"cds_end": null,
"cds_length": 2001,
"cds_start": 1771,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000952708.1",
"gene_hgnc_id": 10680,
"gene_symbol": "SDHA",
"hgvs_c": "c.1771_1773delCGGinsGGT",
"hgvs_p": "p.Arg591Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622767.1",
"strand": true,
"transcript": "ENST00000952708.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 663,
"aa_ref": "R",
"aa_start": 588,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2324,
"cdna_start": 1815,
"cds_end": null,
"cds_length": 1992,
"cds_start": 1762,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000874234.1",
"gene_hgnc_id": 10680,
"gene_symbol": "SDHA",
"hgvs_c": "c.1762_1764delCGGinsGGT",
"hgvs_p": "p.Arg588Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000544293.1",
"strand": true,
"transcript": "ENST00000874234.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 663,
"aa_ref": "R",
"aa_start": 588,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2737,
"cdna_start": 1844,
"cds_end": null,
"cds_length": 1992,
"cds_start": 1762,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000952707.1",
"gene_hgnc_id": 10680,
"gene_symbol": "SDHA",
"hgvs_c": "c.1762_1764delCGGinsGGT",
"hgvs_p": "p.Arg588Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622766.1",
"strand": true,
"transcript": "ENST00000952707.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 656,
"aa_ref": "R",
"aa_start": 581,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2260,
"cdna_start": 1776,
"cds_end": null,
"cds_length": 1971,
"cds_start": 1741,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000874246.1",
"gene_hgnc_id": 10680,
"gene_symbol": "SDHA",
"hgvs_c": "c.1741_1743delCGGinsGGT",
"hgvs_p": "p.Arg581Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000544305.1",
"strand": true,
"transcript": "ENST00000874246.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 653,
"aa_ref": "R",
"aa_start": 578,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2259,
"cdna_start": 1767,
"cds_end": null,
"cds_length": 1962,
"cds_start": 1732,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000874244.1",
"gene_hgnc_id": 10680,
"gene_symbol": "SDHA",
"hgvs_c": "c.1732_1734delCGGinsGGT",
"hgvs_p": "p.Arg578Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000544303.1",
"strand": true,
"transcript": "ENST00000874244.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 653,
"aa_ref": "R",
"aa_start": 578,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2269,
"cdna_start": 1777,
"cds_end": null,
"cds_length": 1962,
"cds_start": 1732,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000952709.1",
"gene_hgnc_id": 10680,
"gene_symbol": "SDHA",
"hgvs_c": "c.1732_1734delCGGinsGGT",
"hgvs_p": "p.Arg578Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622768.1",
"strand": true,
"transcript": "ENST00000952709.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 649,
"aa_ref": "R",
"aa_start": 574,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2215,
"cdna_start": 1745,
"cds_end": null,
"cds_length": 1950,
"cds_start": 1720,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000952716.1",
"gene_hgnc_id": 10680,
"gene_symbol": "SDHA",
"hgvs_c": "c.1720_1722delCGGinsGGT",
"hgvs_p": "p.Arg574Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622775.1",
"strand": true,
"transcript": "ENST00000952716.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 647,
"aa_ref": "R",
"aa_start": 572,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2238,
"cdna_start": 1743,
"cds_end": null,
"cds_length": 1944,
"cds_start": 1714,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000952711.1",
"gene_hgnc_id": 10680,
"gene_symbol": "SDHA",
"hgvs_c": "c.1714_1716delCGGinsGGT",
"hgvs_p": "p.Arg572Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622770.1",
"strand": true,
"transcript": "ENST00000952711.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 626,
"aa_ref": "R",
"aa_start": 589,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2194,
"cdna_start": 1816,
"cds_end": null,
"cds_length": 1881,
"cds_start": 1765,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000874236.1",
"gene_hgnc_id": 10680,
"gene_symbol": "SDHA",
"hgvs_c": "c.1765_1767delCGGinsGGT",
"hgvs_p": "p.Arg589Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000544295.1",
"strand": true,
"transcript": "ENST00000874236.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 616,
"aa_ref": "R",
"aa_start": 541,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2549,
"cdna_start": 1657,
"cds_end": null,
"cds_length": 1851,
"cds_start": 1621,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001294332.2",
"gene_hgnc_id": 10680,
"gene_symbol": "SDHA",
"hgvs_c": "c.1621_1623delCGGinsGGT",
"hgvs_p": "p.Arg541Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001281261.1",
"strand": true,
"transcript": "NM_001294332.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 616,
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}