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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: 11-67610510-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=67610510&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 67610510,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000322776.11",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFV1",
"gene_hgnc_id": 7716,
"hgvs_c": "c.640G>A",
"hgvs_p": "p.Glu214Lys",
"transcript": "NM_007103.4",
"protein_id": "NP_009034.2",
"transcript_support_level": null,
"aa_start": 214,
"aa_end": null,
"aa_length": 464,
"cds_start": 640,
"cds_end": null,
"cds_length": 1395,
"cdna_start": 709,
"cdna_end": null,
"cdna_length": 1560,
"mane_select": "ENST00000322776.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFV1",
"gene_hgnc_id": 7716,
"hgvs_c": "c.640G>A",
"hgvs_p": "p.Glu214Lys",
"transcript": "ENST00000322776.11",
"protein_id": "ENSP00000322450.6",
"transcript_support_level": 1,
"aa_start": 214,
"aa_end": null,
"aa_length": 464,
"cds_start": 640,
"cds_end": null,
"cds_length": 1395,
"cdna_start": 709,
"cdna_end": null,
"cdna_length": 1560,
"mane_select": "NM_007103.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFV1",
"gene_hgnc_id": 7716,
"hgvs_c": "c.613G>A",
"hgvs_p": "p.Glu205Lys",
"transcript": "ENST00000529927.5",
"protein_id": "ENSP00000436766.1",
"transcript_support_level": 1,
"aa_start": 205,
"aa_end": null,
"aa_length": 455,
"cds_start": 613,
"cds_end": null,
"cds_length": 1368,
"cdna_start": 678,
"cdna_end": null,
"cdna_length": 1503,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFV1",
"gene_hgnc_id": 7716,
"hgvs_c": "n.382G>A",
"hgvs_p": null,
"transcript": "ENST00000526169.1",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 774,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFV1",
"gene_hgnc_id": 7716,
"hgvs_c": "c.640G>A",
"hgvs_p": "p.Glu214Lys",
"transcript": "ENST00000647561.1",
"protein_id": "ENSP00000497587.1",
"transcript_support_level": null,
"aa_start": 214,
"aa_end": null,
"aa_length": 464,
"cds_start": 640,
"cds_end": null,
"cds_length": 1395,
"cdna_start": 1677,
"cdna_end": null,
"cdna_length": 2528,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFV1",
"gene_hgnc_id": 7716,
"hgvs_c": "c.619G>A",
"hgvs_p": "p.Glu207Lys",
"transcript": "ENST00000415352.6",
"protein_id": "ENSP00000395368.2",
"transcript_support_level": 2,
"aa_start": 207,
"aa_end": null,
"aa_length": 457,
"cds_start": 619,
"cds_end": null,
"cds_length": 1374,
"cdna_start": 680,
"cdna_end": null,
"cdna_length": 1512,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFV1",
"gene_hgnc_id": 7716,
"hgvs_c": "c.613G>A",
"hgvs_p": "p.Glu205Lys",
"transcript": "NM_001166102.2",
"protein_id": "NP_001159574.1",
"transcript_support_level": null,
"aa_start": 205,
"aa_end": null,
"aa_length": 455,
"cds_start": 613,
"cds_end": null,
"cds_length": 1368,
"cdna_start": 682,
"cdna_end": null,
"cdna_length": 1533,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFV1",
"gene_hgnc_id": 7716,
"hgvs_c": "c.337G>A",
"hgvs_p": "p.Glu113Lys",
"transcript": "ENST00000532303.5",
"protein_id": "ENSP00000432015.1",
"transcript_support_level": 2,
"aa_start": 113,
"aa_end": null,
"aa_length": 363,
"cds_start": 337,
"cds_end": null,
"cds_length": 1092,
"cdna_start": 662,
"cdna_end": null,
"cdna_length": 1493,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFV1",
"gene_hgnc_id": 7716,
"hgvs_c": "c.337G>A",
"hgvs_p": "p.Glu113Lys",
"transcript": "ENST00000532244.5",
"protein_id": "ENSP00000435202.1",
"transcript_support_level": 2,
"aa_start": 113,
"aa_end": null,
"aa_length": 135,
"cds_start": 337,
"cds_end": null,
"cds_length": 409,
"cdna_start": 714,
"cdna_end": null,
"cdna_length": 786,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFV1",
"gene_hgnc_id": 7716,
"hgvs_c": "n.499G>A",
"hgvs_p": null,
"transcript": "ENST00000526770.5",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1748,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFV1",
"gene_hgnc_id": 7716,
"hgvs_c": "n.118G>A",
"hgvs_p": null,
"transcript": "ENST00000533919.5",
"protein_id": "ENSP00000435199.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 774,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFV1",
"gene_hgnc_id": 7716,
"hgvs_c": "n.*242G>A",
"hgvs_p": null,
"transcript": "ENST00000524838.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1200,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFV1",
"gene_hgnc_id": 7716,
"hgvs_c": "c.*69G>A",
"hgvs_p": null,
"transcript": "ENST00000529867.5",
"protein_id": "ENSP00000434438.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 177,
"cds_start": -4,
"cds_end": null,
"cds_length": 535,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 582,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFV1",
"gene_hgnc_id": 7716,
"hgvs_c": "c.*84G>A",
"hgvs_p": null,
"transcript": "ENST00000533075.5",
"protein_id": "ENSP00000437267.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 177,
"cds_start": -4,
"cds_end": null,
"cds_length": 535,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 582,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFV1",
"gene_hgnc_id": 7716,
"hgvs_c": "c.*90G>A",
"hgvs_p": null,
"transcript": "ENST00000530638.1",
"protein_id": "ENSP00000436936.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 143,
"cds_start": -4,
"cds_end": null,
"cds_length": 433,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 582,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFV1",
"gene_hgnc_id": 7716,
"hgvs_c": "c.*50G>A",
"hgvs_p": null,
"transcript": "ENST00000532343.5",
"protein_id": "ENSP00000431751.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 94,
"cds_start": -4,
"cds_end": null,
"cds_length": 287,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 620,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "NDUFV1",
"gene_hgnc_id": 7716,
"dbsnp": "rs121913661",
"frequency_reference_population": 0.00003159667,
"hom_count_reference_population": 0,
"allele_count_reference_population": 51,
"gnomad_exomes_af": 0.0000335183,
"gnomad_genomes_af": 0.0000131401,
"gnomad_exomes_ac": 49,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9570027589797974,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.928,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.988,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.49,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.617,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 16,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PM1,PM2,PP3_Strong,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 16,
"benign_score": 0,
"pathogenic_score": 16,
"criteria": [
"PM1",
"PM2",
"PP3_Strong",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000322776.11",
"gene_symbol": "NDUFV1",
"hgnc_id": 7716,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.640G>A",
"hgvs_p": "p.Glu214Lys"
}
],
"clinvar_disease": " nuclear type 4,Leigh syndrome,Mitochondrial complex I deficiency,not provided",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:3",
"phenotype_combined": "Mitochondrial complex I deficiency, nuclear type 4|not provided|Leigh syndrome",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}