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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: 5-256336-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=256336&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 3,
"criteria": [
"PM2",
"BP4_Moderate",
"BP7"
],
"effects": [
"splice_region_variant",
"synonymous_variant"
],
"gene_symbol": "SDHA",
"hgnc_id": 10680,
"hgvs_c": "c.1911C>A",
"hgvs_p": "p.Val637Val",
"inheritance_mode": "AD,AR",
"pathogenic_score": 2,
"score": -1,
"transcript": "NM_004168.4",
"verdict": "Likely_benign"
},
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"gene_symbol": "ENSG00000286001",
"hgnc_id": null,
"hgvs_c": "n.*644C>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 0,
"transcript": "ENST00000651543.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Moderate,BP7",
"acmg_score": -1,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.58,
"chr": "5",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.03700000047683716,
"computational_source_selected": "REVEL",
"consequences": [
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 664,
"aa_ref": "V",
"aa_start": 637,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2693,
"cdna_start": 1947,
"cds_end": null,
"cds_length": 1995,
"cds_start": 1911,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_004168.4",
"gene_hgnc_id": 10680,
"gene_symbol": "SDHA",
"hgvs_c": "c.1911C>A",
"hgvs_p": "p.Val637Val",
"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": "V",
"aa_end": null,
"aa_length": 664,
"aa_ref": "V",
"aa_start": 637,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2693,
"cdna_start": 1947,
"cds_end": null,
"cds_length": 1995,
"cds_start": 1911,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000264932.11",
"gene_hgnc_id": 10680,
"gene_symbol": "SDHA",
"hgvs_c": "c.1911C>A",
"hgvs_p": "p.Val637Val",
"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": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_count": 24,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000651543.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000286001",
"hgvs_c": "n.*644C>A",
"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": 14,
"exon_rank_end": null,
"feature": "ENST00000651543.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000286001",
"hgvs_c": "n.*644C>A",
"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": "*",
"aa_end": null,
"aa_length": 125,
"aa_ref": "S",
"aa_start": 119,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 704,
"cdna_start": 358,
"cds_end": null,
"cds_length": 378,
"cds_start": 356,
"consequences": [
"stop_gained",
"splice_region_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000515815.5",
"gene_hgnc_id": 10680,
"gene_symbol": "SDHA",
"hgvs_c": "c.356C>A",
"hgvs_p": "p.Ser119*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000422404.1",
"strand": true,
"transcript": "ENST00000515815.5",
"transcript_support_level": 3
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 101,
"aa_ref": "S",
"aa_start": 95,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 630,
"cdna_start": 284,
"cds_end": null,
"cds_length": 306,
"cds_start": 284,
"consequences": [
"stop_gained",
"splice_region_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000509564.1",
"gene_hgnc_id": 10680,
"gene_symbol": "SDHA",
"hgvs_c": "c.284C>A",
"hgvs_p": "p.Ser95*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000421911.1",
"strand": true,
"transcript": "ENST00000509564.1",
"transcript_support_level": 3
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 726,
"aa_ref": "V",
"aa_start": 699,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2511,
"cdna_start": 2150,
"cds_end": null,
"cds_length": 2181,
"cds_start": 2097,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000874235.1",
"gene_hgnc_id": 10680,
"gene_symbol": "SDHA",
"hgvs_c": "c.2097C>A",
"hgvs_p": "p.Val699Val",
"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": "V",
"aa_end": null,
"aa_length": 715,
"aa_ref": "V",
"aa_start": 688,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2417,
"cdna_start": 2093,
"cds_end": null,
"cds_length": 2148,
"cds_start": 2064,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000952715.1",
"gene_hgnc_id": 10680,
"gene_symbol": "SDHA",
"hgvs_c": "c.2064C>A",
"hgvs_p": "p.Val688Val",
"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": "V",
"aa_end": null,
"aa_length": 682,
"aa_ref": "V",
"aa_start": 655,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2355,
"cdna_start": 2009,
"cds_end": null,
"cds_length": 2049,
"cds_start": 1965,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000874242.1",
"gene_hgnc_id": 10680,
"gene_symbol": "SDHA",
"hgvs_c": "c.1965C>A",
"hgvs_p": "p.Val655Val",
"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": "V",
"aa_end": null,
"aa_length": 681,
"aa_ref": "V",
"aa_start": 654,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2322,
"cdna_start": 1998,
"cds_end": null,
"cds_length": 2046,
"cds_start": 1962,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000952713.1",
"gene_hgnc_id": 10680,
"gene_symbol": "SDHA",
"hgvs_c": "c.1962C>A",
"hgvs_p": "p.Val654Val",
"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": "V",
"aa_end": null,
"aa_length": 673,
"aa_ref": "V",
"aa_start": 646,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2306,
"cdna_start": 1985,
"cds_end": null,
"cds_length": 2022,
"cds_start": 1938,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000952712.1",
"gene_hgnc_id": 10680,
"gene_symbol": "SDHA",
"hgvs_c": "c.1938C>A",
"hgvs_p": "p.Val646Val",
"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": "V",
"aa_end": null,
"aa_length": 672,
"aa_ref": "V",
"aa_start": 645,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2285,
"cdna_start": 1938,
"cds_end": null,
"cds_length": 2019,
"cds_start": 1935,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000874248.1",
"gene_hgnc_id": 10680,
"gene_symbol": "SDHA",
"hgvs_c": "c.1935C>A",
"hgvs_p": "p.Val645Val",
"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": "V",
"aa_end": null,
"aa_length": 666,
"aa_ref": "V",
"aa_start": 639,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2333,
"cdna_start": 1992,
"cds_end": null,
"cds_length": 2001,
"cds_start": 1917,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000952708.1",
"gene_hgnc_id": 10680,
"gene_symbol": "SDHA",
"hgvs_c": "c.1917C>A",
"hgvs_p": "p.Val639Val",
"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": "V",
"aa_end": null,
"aa_length": 663,
"aa_ref": "V",
"aa_start": 636,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2324,
"cdna_start": 1961,
"cds_end": null,
"cds_length": 1992,
"cds_start": 1908,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000874234.1",
"gene_hgnc_id": 10680,
"gene_symbol": "SDHA",
"hgvs_c": "c.1908C>A",
"hgvs_p": "p.Val636Val",
"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": "V",
"aa_end": null,
"aa_length": 663,
"aa_ref": "V",
"aa_start": 636,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2737,
"cdna_start": 1990,
"cds_end": null,
"cds_length": 1992,
"cds_start": 1908,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000952707.1",
"gene_hgnc_id": 10680,
"gene_symbol": "SDHA",
"hgvs_c": "c.1908C>A",
"hgvs_p": "p.Val636Val",
"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": "V",
"aa_end": null,
"aa_length": 656,
"aa_ref": "V",
"aa_start": 629,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2260,
"cdna_start": 1922,
"cds_end": null,
"cds_length": 1971,
"cds_start": 1887,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000874246.1",
"gene_hgnc_id": 10680,
"gene_symbol": "SDHA",
"hgvs_c": "c.1887C>A",
"hgvs_p": "p.Val629Val",
"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": "V",
"aa_end": null,
"aa_length": 653,
"aa_ref": "V",
"aa_start": 626,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2259,
"cdna_start": 1913,
"cds_end": null,
"cds_length": 1962,
"cds_start": 1878,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000874244.1",
"gene_hgnc_id": 10680,
"gene_symbol": "SDHA",
"hgvs_c": "c.1878C>A",
"hgvs_p": "p.Val626Val",
"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": "V",
"aa_end": null,
"aa_length": 653,
"aa_ref": "V",
"aa_start": 626,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2269,
"cdna_start": 1923,
"cds_end": null,
"cds_length": 1962,
"cds_start": 1878,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000952709.1",
"gene_hgnc_id": 10680,
"gene_symbol": "SDHA",
"hgvs_c": "c.1878C>A",
"hgvs_p": "p.Val626Val",
"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": "V",
"aa_end": null,
"aa_length": 649,
"aa_ref": "V",
"aa_start": 622,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2215,
"cdna_start": 1891,
"cds_end": null,
"cds_length": 1950,
"cds_start": 1866,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000952716.1",
"gene_hgnc_id": 10680,
"gene_symbol": "SDHA",
"hgvs_c": "c.1866C>A",
"hgvs_p": "p.Val622Val",
"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": "V",
"aa_end": null,
"aa_length": 647,
"aa_ref": "V",
"aa_start": 620,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2238,
"cdna_start": 1889,
"cds_end": null,
"cds_length": 1944,
"cds_start": 1860,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000952711.1",
"gene_hgnc_id": 10680,
"gene_symbol": "SDHA",
"hgvs_c": "c.1860C>A",
"hgvs_p": "p.Val620Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
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}