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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: 11-67611972-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=67611972&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 67611972,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000322776.11",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFV1",
"gene_hgnc_id": 7716,
"hgvs_c": "c.1156C>A",
"hgvs_p": "p.Arg386Ser",
"transcript": "NM_007103.4",
"protein_id": "NP_009034.2",
"transcript_support_level": null,
"aa_start": 386,
"aa_end": null,
"aa_length": 464,
"cds_start": 1156,
"cds_end": null,
"cds_length": 1395,
"cdna_start": 1225,
"cdna_end": null,
"cdna_length": 1560,
"mane_select": "ENST00000322776.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFV1",
"gene_hgnc_id": 7716,
"hgvs_c": "c.1156C>A",
"hgvs_p": "p.Arg386Ser",
"transcript": "ENST00000322776.11",
"protein_id": "ENSP00000322450.6",
"transcript_support_level": 1,
"aa_start": 386,
"aa_end": null,
"aa_length": 464,
"cds_start": 1156,
"cds_end": null,
"cds_length": 1395,
"cdna_start": 1225,
"cdna_end": null,
"cdna_length": 1560,
"mane_select": "NM_007103.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFV1",
"gene_hgnc_id": 7716,
"hgvs_c": "c.1129C>A",
"hgvs_p": "p.Arg377Ser",
"transcript": "ENST00000529927.5",
"protein_id": "ENSP00000436766.1",
"transcript_support_level": 1,
"aa_start": 377,
"aa_end": null,
"aa_length": 455,
"cds_start": 1129,
"cds_end": null,
"cds_length": 1368,
"cdna_start": 1194,
"cdna_end": null,
"cdna_length": 1503,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFV1",
"gene_hgnc_id": 7716,
"hgvs_c": "c.1156C>A",
"hgvs_p": "p.Arg386Ser",
"transcript": "ENST00000647561.1",
"protein_id": "ENSP00000497587.1",
"transcript_support_level": null,
"aa_start": 386,
"aa_end": null,
"aa_length": 464,
"cds_start": 1156,
"cds_end": null,
"cds_length": 1395,
"cdna_start": 2193,
"cdna_end": null,
"cdna_length": 2528,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFV1",
"gene_hgnc_id": 7716,
"hgvs_c": "c.1135C>A",
"hgvs_p": "p.Arg379Ser",
"transcript": "ENST00000415352.6",
"protein_id": "ENSP00000395368.2",
"transcript_support_level": 2,
"aa_start": 379,
"aa_end": null,
"aa_length": 457,
"cds_start": 1135,
"cds_end": null,
"cds_length": 1374,
"cdna_start": 1196,
"cdna_end": null,
"cdna_length": 1512,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFV1",
"gene_hgnc_id": 7716,
"hgvs_c": "c.1129C>A",
"hgvs_p": "p.Arg377Ser",
"transcript": "NM_001166102.2",
"protein_id": "NP_001159574.1",
"transcript_support_level": null,
"aa_start": 377,
"aa_end": null,
"aa_length": 455,
"cds_start": 1129,
"cds_end": null,
"cds_length": 1368,
"cdna_start": 1198,
"cdna_end": null,
"cdna_length": 1533,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFV1",
"gene_hgnc_id": 7716,
"hgvs_c": "c.853C>A",
"hgvs_p": "p.Arg285Ser",
"transcript": "ENST00000532303.5",
"protein_id": "ENSP00000432015.1",
"transcript_support_level": 2,
"aa_start": 285,
"aa_end": null,
"aa_length": 363,
"cds_start": 853,
"cds_end": null,
"cds_length": 1092,
"cdna_start": 1178,
"cdna_end": null,
"cdna_length": 1493,
"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": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFV1",
"gene_hgnc_id": 7716,
"hgvs_c": "n.1439C>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": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFV1",
"gene_hgnc_id": 7716,
"hgvs_c": "n.498C>A",
"hgvs_p": null,
"transcript": "ENST00000527923.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 594,
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFV1",
"gene_hgnc_id": 7716,
"hgvs_c": "n.420C>A",
"hgvs_p": null,
"transcript": "ENST00000531250.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 736,
"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": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFV1",
"gene_hgnc_id": 7716,
"hgvs_c": "n.*158C>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": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFV1",
"gene_hgnc_id": 7716,
"hgvs_c": "n.254C>A",
"hgvs_p": null,
"transcript": "ENST00000534352.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 573,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFV1",
"gene_hgnc_id": 7716,
"hgvs_c": "n.*158C>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": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "NDUFV1",
"gene_hgnc_id": 7716,
"hgvs_c": "n.370-148C>A",
"hgvs_p": null,
"transcript": "ENST00000527355.5",
"protein_id": "ENSP00000432637.1",
"transcript_support_level": 2,
"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": 679,
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFV1",
"gene_hgnc_id": 7716,
"hgvs_c": "n.*5C>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
}
],
"gene_symbol": "NDUFV1",
"gene_hgnc_id": 7716,
"dbsnp": "rs150966634",
"frequency_reference_population": 0.0000041044837,
"hom_count_reference_population": 0,
"allele_count_reference_population": 6,
"gnomad_exomes_af": 0.00000410448,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 6,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.987829864025116,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.952,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9989,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.48,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 2.389,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.03,
"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": 8,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PM5,PP3_Strong",
"acmg_by_gene": [
{
"score": 8,
"benign_score": 0,
"pathogenic_score": 8,
"criteria": [
"PM2",
"PM5",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000322776.11",
"gene_symbol": "NDUFV1",
"hgnc_id": 7716,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1156C>A",
"hgvs_p": "p.Arg386Ser"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}