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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: 11-68036558-GCC-ACA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=68036558&ref=GCC&alt=ACA&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM1",
"PP2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "NDUFS8",
"hgnc_id": 7715,
"hgvs_c": "c.598_600delGCCinsACA",
"hgvs_p": "p.Ala200Thr",
"inheritance_mode": "AR",
"pathogenic_score": 3,
"score": 3,
"transcript": "NM_002496.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM1,PP2",
"acmg_score": 3,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "ACA",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "11",
"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": "T",
"aa_end": null,
"aa_length": 210,
"aa_ref": "A",
"aa_start": 200,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 737,
"cdna_start": 651,
"cds_end": null,
"cds_length": 633,
"cds_start": 598,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_002496.4",
"gene_hgnc_id": 7715,
"gene_symbol": "NDUFS8",
"hgvs_c": "c.598_600delGCCinsACA",
"hgvs_p": "p.Ala200Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000313468.10",
"protein_coding": true,
"protein_id": "NP_002487.1",
"strand": true,
"transcript": "NM_002496.4",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 210,
"aa_ref": "A",
"aa_start": 200,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 737,
"cdna_start": 651,
"cds_end": null,
"cds_length": 633,
"cds_start": 598,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000313468.10",
"gene_hgnc_id": 7715,
"gene_symbol": "NDUFS8",
"hgvs_c": "c.598_600delGCCinsACA",
"hgvs_p": "p.Ala200Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_002496.4",
"protein_coding": true,
"protein_id": "ENSP00000315774.5",
"strand": true,
"transcript": "ENST00000313468.10",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 64,
"aa_ref": "A",
"aa_start": 54,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 353,
"cdna_start": 272,
"cds_end": null,
"cds_length": 195,
"cds_start": 160,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000528492.1",
"gene_hgnc_id": 7715,
"gene_symbol": "NDUFS8",
"hgvs_c": "c.160_162delGCCinsACA",
"hgvs_p": "p.Ala54Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000432848.1",
"strand": true,
"transcript": "ENST00000528492.1",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 210,
"aa_ref": "A",
"aa_start": 200,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 771,
"cdna_start": 682,
"cds_end": null,
"cds_length": 633,
"cds_start": 598,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000852151.1",
"gene_hgnc_id": 7715,
"gene_symbol": "NDUFS8",
"hgvs_c": "c.598_600delGCCinsACA",
"hgvs_p": "p.Ala200Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000522210.1",
"strand": true,
"transcript": "ENST00000852151.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 210,
"aa_ref": "A",
"aa_start": 200,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 793,
"cdna_start": 708,
"cds_end": null,
"cds_length": 633,
"cds_start": 598,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000852152.1",
"gene_hgnc_id": 7715,
"gene_symbol": "NDUFS8",
"hgvs_c": "c.598_600delGCCinsACA",
"hgvs_p": "p.Ala200Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000522211.1",
"strand": true,
"transcript": "ENST00000852152.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 210,
"aa_ref": "A",
"aa_start": 200,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 831,
"cdna_start": 745,
"cds_end": null,
"cds_length": 633,
"cds_start": 598,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000852153.1",
"gene_hgnc_id": 7715,
"gene_symbol": "NDUFS8",
"hgvs_c": "c.598_600delGCCinsACA",
"hgvs_p": "p.Ala200Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000522212.1",
"strand": true,
"transcript": "ENST00000852153.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 210,
"aa_ref": "A",
"aa_start": 200,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2113,
"cdna_start": 2027,
"cds_end": null,
"cds_length": 633,
"cds_start": 598,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000852154.1",
"gene_hgnc_id": 7715,
"gene_symbol": "NDUFS8",
"hgvs_c": "c.598_600delGCCinsACA",
"hgvs_p": "p.Ala200Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000522213.1",
"strand": true,
"transcript": "ENST00000852154.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 210,
"aa_ref": "A",
"aa_start": 200,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 894,
"cdna_start": 809,
"cds_end": null,
"cds_length": 633,
"cds_start": 598,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000852155.1",
"gene_hgnc_id": 7715,
"gene_symbol": "NDUFS8",
"hgvs_c": "c.598_600delGCCinsACA",
"hgvs_p": "p.Ala200Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000522214.1",
"strand": true,
"transcript": "ENST00000852155.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 210,
"aa_ref": "A",
"aa_start": 200,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 951,
"cdna_start": 866,
"cds_end": null,
"cds_length": 633,
"cds_start": 598,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000852156.1",
"gene_hgnc_id": 7715,
"gene_symbol": "NDUFS8",
"hgvs_c": "c.598_600delGCCinsACA",
"hgvs_p": "p.Ala200Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000522215.1",
"strand": true,
"transcript": "ENST00000852156.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 210,
"aa_ref": "A",
"aa_start": 200,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 806,
"cdna_start": 720,
"cds_end": null,
"cds_length": 633,
"cds_start": 598,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000945140.1",
"gene_hgnc_id": 7715,
"gene_symbol": "NDUFS8",
"hgvs_c": "c.598_600delGCCinsACA",
"hgvs_p": "p.Ala200Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615199.1",
"strand": true,
"transcript": "ENST00000945140.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 210,
"aa_ref": "A",
"aa_start": 200,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1130,
"cdna_start": 1044,
"cds_end": null,
"cds_length": 633,
"cds_start": 598,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000945141.1",
"gene_hgnc_id": 7715,
"gene_symbol": "NDUFS8",
"hgvs_c": "c.598_600delGCCinsACA",
"hgvs_p": "p.Ala200Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615200.1",
"strand": true,
"transcript": "ENST00000945141.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 210,
"aa_ref": "A",
"aa_start": 200,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 876,
"cdna_start": 793,
"cds_end": null,
"cds_length": 633,
"cds_start": 598,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000945142.1",
"gene_hgnc_id": 7715,
"gene_symbol": "NDUFS8",
"hgvs_c": "c.598_600delGCCinsACA",
"hgvs_p": "p.Ala200Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615201.1",
"strand": true,
"transcript": "ENST00000945142.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 210,
"aa_ref": "A",
"aa_start": 200,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1035,
"cdna_start": 950,
"cds_end": null,
"cds_length": 633,
"cds_start": 598,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000945143.1",
"gene_hgnc_id": 7715,
"gene_symbol": "NDUFS8",
"hgvs_c": "c.598_600delGCCinsACA",
"hgvs_p": "p.Ala200Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615202.1",
"strand": true,
"transcript": "ENST00000945143.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 210,
"aa_ref": "A",
"aa_start": 200,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 888,
"cdna_start": 805,
"cds_end": null,
"cds_length": 633,
"cds_start": 598,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000945144.1",
"gene_hgnc_id": 7715,
"gene_symbol": "NDUFS8",
"hgvs_c": "c.598_600delGCCinsACA",
"hgvs_p": "p.Ala200Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615203.1",
"strand": true,
"transcript": "ENST00000945144.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 210,
"aa_ref": "A",
"aa_start": 200,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 836,
"cdna_start": 750,
"cds_end": null,
"cds_length": 633,
"cds_start": 598,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000945145.1",
"gene_hgnc_id": 7715,
"gene_symbol": "NDUFS8",
"hgvs_c": "c.598_600delGCCinsACA",
"hgvs_p": "p.Ala200Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615204.1",
"strand": true,
"transcript": "ENST00000945145.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 210,
"aa_ref": "A",
"aa_start": 200,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 708,
"cdna_start": 626,
"cds_end": null,
"cds_length": 633,
"cds_start": 598,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000945146.1",
"gene_hgnc_id": 7715,
"gene_symbol": "NDUFS8",
"hgvs_c": "c.598_600delGCCinsACA",
"hgvs_p": "p.Ala200Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615205.1",
"strand": true,
"transcript": "ENST00000945146.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 167,
"aa_ref": "A",
"aa_start": 157,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 620,
"cdna_start": 534,
"cds_end": null,
"cds_length": 504,
"cds_start": 469,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000927555.1",
"gene_hgnc_id": 7715,
"gene_symbol": "NDUFS8",
"hgvs_c": "c.469_471delGCCinsACA",
"hgvs_p": "p.Ala157Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000597614.1",
"strand": true,
"transcript": "ENST00000927555.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 616,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000524810.5",
"gene_hgnc_id": 7715,
"gene_symbol": "NDUFS8",
"hgvs_c": "n.*249_*251delGCCinsACA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000434283.1",
"strand": true,
"transcript": "ENST00000524810.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 536,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000531282.1",
"gene_hgnc_id": 7715,
"gene_symbol": "NDUFS8",
"hgvs_c": "n.450_452delGCCinsACA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000531282.1",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 616,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000524810.5",
"gene_hgnc_id": 7715,
"gene_symbol": "NDUFS8",
"hgvs_c": "n.*249_*251delGCCinsACA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000434283.1",
"strand": true,
"transcript": "ENST00000524810.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 183,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 689,
"cdna_start": null,
"cds_end": null,
"cds_length": 554,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000526339.5",
"gene_hgnc_id": 7715,
"gene_symbol": "NDUFS8",
"hgvs_c": "c.*44_*46delGCCinsACA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
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}