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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: 5-254498-ACT-GCC (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=254498&ref=ACT&alt=GCC&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "SDHA",
"hgnc_id": 10680,
"hgvs_c": "c.1900_1902delACTinsGCC",
"hgvs_p": "p.Thr634Ala",
"inheritance_mode": "AD,AR",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_004168.4",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "ENSG00000286001",
"hgnc_id": null,
"hgvs_c": "n.*633_*635delACTinsGCC",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": 0,
"transcript": "ENST00000651543.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "GCC",
"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": "A",
"aa_end": null,
"aa_length": 664,
"aa_ref": "T",
"aa_start": 634,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2693,
"cdna_start": 1936,
"cds_end": null,
"cds_length": 1995,
"cds_start": 1900,
"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.1900_1902delACTinsGCC",
"hgvs_p": "p.Thr634Ala",
"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": "A",
"aa_end": null,
"aa_length": 664,
"aa_ref": "T",
"aa_start": 634,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2693,
"cdna_start": 1936,
"cds_end": null,
"cds_length": 1995,
"cds_start": 1900,
"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.1900_1902delACTinsGCC",
"hgvs_p": "p.Thr634Ala",
"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": 13,
"exon_rank_end": null,
"feature": "ENST00000651543.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000286001",
"hgvs_c": "n.*633_*635delACTinsGCC",
"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": 13,
"exon_rank_end": null,
"feature": "ENST00000651543.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000286001",
"hgvs_c": "n.*633_*635delACTinsGCC",
"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": "A",
"aa_end": null,
"aa_length": 726,
"aa_ref": "T",
"aa_start": 696,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2511,
"cdna_start": 2139,
"cds_end": null,
"cds_length": 2181,
"cds_start": 2086,
"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.2086_2088delACTinsGCC",
"hgvs_p": "p.Thr696Ala",
"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": "A",
"aa_end": null,
"aa_length": 715,
"aa_ref": "T",
"aa_start": 685,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2417,
"cdna_start": 2082,
"cds_end": null,
"cds_length": 2148,
"cds_start": 2053,
"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.2053_2055delACTinsGCC",
"hgvs_p": "p.Thr685Ala",
"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": "A",
"aa_end": null,
"aa_length": 682,
"aa_ref": "T",
"aa_start": 652,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2355,
"cdna_start": 1998,
"cds_end": null,
"cds_length": 2049,
"cds_start": 1954,
"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.1954_1956delACTinsGCC",
"hgvs_p": "p.Thr652Ala",
"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": "A",
"aa_end": null,
"aa_length": 681,
"aa_ref": "T",
"aa_start": 651,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2322,
"cdna_start": 1987,
"cds_end": null,
"cds_length": 2046,
"cds_start": 1951,
"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.1951_1953delACTinsGCC",
"hgvs_p": "p.Thr651Ala",
"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": "A",
"aa_end": null,
"aa_length": 673,
"aa_ref": "T",
"aa_start": 643,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2306,
"cdna_start": 1974,
"cds_end": null,
"cds_length": 2022,
"cds_start": 1927,
"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.1927_1929delACTinsGCC",
"hgvs_p": "p.Thr643Ala",
"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": "A",
"aa_end": null,
"aa_length": 672,
"aa_ref": "T",
"aa_start": 642,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2285,
"cdna_start": 1927,
"cds_end": null,
"cds_length": 2019,
"cds_start": 1924,
"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.1924_1926delACTinsGCC",
"hgvs_p": "p.Thr642Ala",
"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": "A",
"aa_end": null,
"aa_length": 666,
"aa_ref": "T",
"aa_start": 636,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2333,
"cdna_start": 1981,
"cds_end": null,
"cds_length": 2001,
"cds_start": 1906,
"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.1906_1908delACTinsGCC",
"hgvs_p": "p.Thr636Ala",
"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": "A",
"aa_end": null,
"aa_length": 663,
"aa_ref": "T",
"aa_start": 633,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2324,
"cdna_start": 1950,
"cds_end": null,
"cds_length": 1992,
"cds_start": 1897,
"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.1897_1899delACTinsGCC",
"hgvs_p": "p.Thr633Ala",
"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": "A",
"aa_end": null,
"aa_length": 663,
"aa_ref": "T",
"aa_start": 633,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2737,
"cdna_start": 1979,
"cds_end": null,
"cds_length": 1992,
"cds_start": 1897,
"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.1897_1899delACTinsGCC",
"hgvs_p": "p.Thr633Ala",
"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": "A",
"aa_end": null,
"aa_length": 656,
"aa_ref": "T",
"aa_start": 626,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2260,
"cdna_start": 1911,
"cds_end": null,
"cds_length": 1971,
"cds_start": 1876,
"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.1876_1878delACTinsGCC",
"hgvs_p": "p.Thr626Ala",
"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": "A",
"aa_end": null,
"aa_length": 653,
"aa_ref": "T",
"aa_start": 623,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2259,
"cdna_start": 1902,
"cds_end": null,
"cds_length": 1962,
"cds_start": 1867,
"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.1867_1869delACTinsGCC",
"hgvs_p": "p.Thr623Ala",
"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": "A",
"aa_end": null,
"aa_length": 653,
"aa_ref": "T",
"aa_start": 623,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2269,
"cdna_start": 1912,
"cds_end": null,
"cds_length": 1962,
"cds_start": 1867,
"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.1867_1869delACTinsGCC",
"hgvs_p": "p.Thr623Ala",
"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": "A",
"aa_end": null,
"aa_length": 649,
"aa_ref": "T",
"aa_start": 619,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2215,
"cdna_start": 1880,
"cds_end": null,
"cds_length": 1950,
"cds_start": 1855,
"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.1855_1857delACTinsGCC",
"hgvs_p": "p.Thr619Ala",
"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": "A",
"aa_end": null,
"aa_length": 647,
"aa_ref": "T",
"aa_start": 617,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2238,
"cdna_start": 1878,
"cds_end": null,
"cds_length": 1944,
"cds_start": 1849,
"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.1849_1851delACTinsGCC",
"hgvs_p": "p.Thr617Ala",
"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": "A",
"aa_end": null,
"aa_length": 616,
"aa_ref": "T",
"aa_start": 586,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2549,
"cdna_start": 1792,
"cds_end": null,
"cds_length": 1851,
"cds_start": 1756,
"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.1756_1758delACTinsGCC",
"hgvs_p": "p.Thr586Ala",
"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": "A",
"aa_end": null,
"aa_length": 616,
"aa_ref": "T",
"aa_start": 586,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2148,
"cdna_start": 1794,
"cds_end": null,
"cds_length": 1851,
"cds_start": 1756,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000510361.5",
"gene_hgnc_id": 10680,
"gene_symbol": "SDHA",
"hgvs_c": "c.1756_1758delACTinsGCC",
"hgvs_p": "p.Thr586Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000427703.1",
"strand": true,
"transcript": "ENST00000510361.5",
"transcript_support_level": 2
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 609,
"aa_ref": "T",
"aa_start": 579,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2525,
"cdna_start": 1771,
"cds_end": null,
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}