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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: 2-206124240-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=206124240&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM1",
"PM2",
"PP2",
"PP3_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "NDUFS1",
"hgnc_id": 7707,
"hgvs_c": "c.2171G>A",
"hgvs_p": "p.Cys724Tyr",
"inheritance_mode": "AR",
"pathogenic_score": 9,
"score": 9,
"transcript": "NM_001199984.2",
"verdict": "Likely_pathogenic"
}
],
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM1,PM2,PP2,PP3_Strong",
"acmg_score": 9,
"allele_count_reference_population": 4,
"alphamissense_prediction": null,
"alphamissense_score": 0.9926,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.55,
"chr": "2",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "Mitochondrial complex I deficiency,not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.9521175622940063,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 727,
"aa_ref": "C",
"aa_start": 710,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11660,
"cdna_start": 2237,
"cds_end": null,
"cds_length": 2184,
"cds_start": 2129,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "NM_005006.7",
"gene_hgnc_id": 7707,
"gene_symbol": "NDUFS1",
"hgvs_c": "c.2129G>A",
"hgvs_p": "p.Cys710Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000233190.11",
"protein_coding": true,
"protein_id": "NP_004997.4",
"strand": false,
"transcript": "NM_005006.7",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 727,
"aa_ref": "C",
"aa_start": 710,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 11660,
"cdna_start": 2237,
"cds_end": null,
"cds_length": 2184,
"cds_start": 2129,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000233190.11",
"gene_hgnc_id": 7707,
"gene_symbol": "NDUFS1",
"hgvs_c": "c.2129G>A",
"hgvs_p": "p.Cys710Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_005006.7",
"protein_coding": true,
"protein_id": "ENSP00000233190.5",
"strand": false,
"transcript": "ENST00000233190.11",
"transcript_support_level": 1
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 741,
"aa_ref": "C",
"aa_start": 724,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11670,
"cdna_start": 2247,
"cds_end": null,
"cds_length": 2226,
"cds_start": 2171,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "NM_001199984.2",
"gene_hgnc_id": 7707,
"gene_symbol": "NDUFS1",
"hgvs_c": "c.2171G>A",
"hgvs_p": "p.Cys724Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001186913.1",
"strand": false,
"transcript": "NM_001199984.2",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 730,
"aa_ref": "C",
"aa_start": 713,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2556,
"cdna_start": 2225,
"cds_end": null,
"cds_length": 2193,
"cds_start": 2138,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000903706.1",
"gene_hgnc_id": 7707,
"gene_symbol": "NDUFS1",
"hgvs_c": "c.2138G>A",
"hgvs_p": "p.Cys713Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000573765.1",
"strand": false,
"transcript": "ENST00000903706.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 727,
"aa_ref": "C",
"aa_start": 710,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2371,
"cdna_start": 2232,
"cds_end": null,
"cds_length": 2184,
"cds_start": 2129,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000449699.5",
"gene_hgnc_id": 7707,
"gene_symbol": "NDUFS1",
"hgvs_c": "c.2129G>A",
"hgvs_p": "p.Cys710Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000399912.1",
"strand": false,
"transcript": "ENST00000449699.5",
"transcript_support_level": 2
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 727,
"aa_ref": "C",
"aa_start": 710,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2661,
"cdna_start": 2330,
"cds_end": null,
"cds_length": 2184,
"cds_start": 2129,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000903708.1",
"gene_hgnc_id": 7707,
"gene_symbol": "NDUFS1",
"hgvs_c": "c.2129G>A",
"hgvs_p": "p.Cys710Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000573767.1",
"strand": false,
"transcript": "ENST00000903708.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 727,
"aa_ref": "C",
"aa_start": 710,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3444,
"cdna_start": 2919,
"cds_end": null,
"cds_length": 2184,
"cds_start": 2129,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000903709.1",
"gene_hgnc_id": 7707,
"gene_symbol": "NDUFS1",
"hgvs_c": "c.2129G>A",
"hgvs_p": "p.Cys710Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000573768.1",
"strand": false,
"transcript": "ENST00000903709.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 727,
"aa_ref": "C",
"aa_start": 710,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2912,
"cdna_start": 2381,
"cds_end": null,
"cds_length": 2184,
"cds_start": 2129,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000938122.1",
"gene_hgnc_id": 7707,
"gene_symbol": "NDUFS1",
"hgvs_c": "c.2129G>A",
"hgvs_p": "p.Cys710Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000608181.1",
"strand": false,
"transcript": "ENST00000938122.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 727,
"aa_ref": "C",
"aa_start": 710,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3132,
"cdna_start": 2798,
"cds_end": null,
"cds_length": 2184,
"cds_start": 2129,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000938124.1",
"gene_hgnc_id": 7707,
"gene_symbol": "NDUFS1",
"hgvs_c": "c.2129G>A",
"hgvs_p": "p.Cys710Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000608183.1",
"strand": false,
"transcript": "ENST00000938124.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 727,
"aa_ref": "C",
"aa_start": 710,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2603,
"cdna_start": 2270,
"cds_end": null,
"cds_length": 2184,
"cds_start": 2129,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000948901.1",
"gene_hgnc_id": 7707,
"gene_symbol": "NDUFS1",
"hgvs_c": "c.2129G>A",
"hgvs_p": "p.Cys710Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000618960.1",
"strand": false,
"transcript": "ENST00000948901.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 727,
"aa_ref": "C",
"aa_start": 710,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3609,
"cdna_start": 3206,
"cds_end": null,
"cds_length": 2184,
"cds_start": 2129,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000948907.1",
"gene_hgnc_id": 7707,
"gene_symbol": "NDUFS1",
"hgvs_c": "c.2129G>A",
"hgvs_p": "p.Cys710Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000618966.1",
"strand": false,
"transcript": "ENST00000948907.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 725,
"aa_ref": "C",
"aa_start": 708,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2642,
"cdna_start": 2309,
"cds_end": null,
"cds_length": 2178,
"cds_start": 2123,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000903702.1",
"gene_hgnc_id": 7707,
"gene_symbol": "NDUFS1",
"hgvs_c": "c.2123G>A",
"hgvs_p": "p.Cys708Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000573761.1",
"strand": false,
"transcript": "ENST00000903702.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 724,
"aa_ref": "C",
"aa_start": 707,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3458,
"cdna_start": 2257,
"cds_end": null,
"cds_length": 2175,
"cds_start": 2120,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000948898.1",
"gene_hgnc_id": 7707,
"gene_symbol": "NDUFS1",
"hgvs_c": "c.2120G>A",
"hgvs_p": "p.Cys707Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000618957.1",
"strand": false,
"transcript": "ENST00000948898.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 717,
"aa_ref": "C",
"aa_start": 700,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2532,
"cdna_start": 2201,
"cds_end": null,
"cds_length": 2154,
"cds_start": 2099,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000948903.1",
"gene_hgnc_id": 7707,
"gene_symbol": "NDUFS1",
"hgvs_c": "c.2099G>A",
"hgvs_p": "p.Cys700Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000618962.1",
"strand": false,
"transcript": "ENST00000948903.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 711,
"aa_ref": "C",
"aa_start": 694,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2515,
"cdna_start": 2183,
"cds_end": null,
"cds_length": 2136,
"cds_start": 2081,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000903704.1",
"gene_hgnc_id": 7707,
"gene_symbol": "NDUFS1",
"hgvs_c": "c.2081G>A",
"hgvs_p": "p.Cys694Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000573763.1",
"strand": false,
"transcript": "ENST00000903704.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 707,
"aa_ref": "C",
"aa_start": 690,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2520,
"cdna_start": 2190,
"cds_end": null,
"cds_length": 2124,
"cds_start": 2069,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000948900.1",
"gene_hgnc_id": 7707,
"gene_symbol": "NDUFS1",
"hgvs_c": "c.2069G>A",
"hgvs_p": "p.Cys690Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000618959.1",
"strand": false,
"transcript": "ENST00000948900.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 706,
"aa_ref": "C",
"aa_start": 689,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2708,
"cdna_start": 2177,
"cds_end": null,
"cds_length": 2121,
"cds_start": 2066,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000903701.1",
"gene_hgnc_id": 7707,
"gene_symbol": "NDUFS1",
"hgvs_c": "c.2066G>A",
"hgvs_p": "p.Cys689Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000573760.1",
"strand": false,
"transcript": "ENST00000903701.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 704,
"aa_ref": "C",
"aa_start": 687,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2370,
"cdna_start": 2233,
"cds_end": null,
"cds_length": 2115,
"cds_start": 2060,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000948906.1",
"gene_hgnc_id": 7707,
"gene_symbol": "NDUFS1",
"hgvs_c": "c.2060G>A",
"hgvs_p": "p.Cys687Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000618965.1",
"strand": false,
"transcript": "ENST00000948906.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 691,
"aa_ref": "C",
"aa_start": 674,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11552,
"cdna_start": 2129,
"cds_end": null,
"cds_length": 2076,
"cds_start": 2021,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "NM_001199981.2",
"gene_hgnc_id": 7707,
"gene_symbol": "NDUFS1",
"hgvs_c": "c.2021G>A",
"hgvs_p": "p.Cys674Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001186910.1",
"strand": false,
"transcript": "NM_001199981.2",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 691,
"aa_ref": "C",
"aa_start": 674,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2394,
"cdna_start": 2110,
"cds_end": null,
"cds_length": 2076,
"cds_start": 2021,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000440274.5",
"gene_hgnc_id": 7707,
"gene_symbol": "NDUFS1",
"hgvs_c": "c.2021G>A",
"hgvs_p": "p.Cys674Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000409766.1",
"strand": false,
"transcript": "ENST00000440274.5",
"transcript_support_level": 2
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 684,
"aa_ref": "C",
"aa_start": 667,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3329,
"cdna_start": 2186,
"cds_end": null,
"cds_length": 2055,
"cds_start": 2000,
"consequences": [
"missense_variant"
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