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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: 2-84441437-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=84441437&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 84441437,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_003849.4",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUCLG1",
"gene_hgnc_id": 11449,
"hgvs_c": "c.341C>T",
"hgvs_p": "p.Thr114Met",
"transcript": "NM_003849.4",
"protein_id": "NP_003840.2",
"transcript_support_level": null,
"aa_start": 114,
"aa_end": null,
"aa_length": 346,
"cds_start": 341,
"cds_end": null,
"cds_length": 1041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000393868.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003849.4"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUCLG1",
"gene_hgnc_id": 11449,
"hgvs_c": "c.341C>T",
"hgvs_p": "p.Thr114Met",
"transcript": "ENST00000393868.7",
"protein_id": "ENSP00000377446.2",
"transcript_support_level": 1,
"aa_start": 114,
"aa_end": null,
"aa_length": 346,
"cds_start": 341,
"cds_end": null,
"cds_length": 1041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003849.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000393868.7"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUCLG1",
"gene_hgnc_id": 11449,
"hgvs_c": "c.368C>T",
"hgvs_p": "p.Thr123Met",
"transcript": "ENST00000949558.1",
"protein_id": "ENSP00000619617.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 355,
"cds_start": 368,
"cds_end": null,
"cds_length": 1068,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949558.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUCLG1",
"gene_hgnc_id": 11449,
"hgvs_c": "c.341C>T",
"hgvs_p": "p.Thr114Met",
"transcript": "ENST00000912793.1",
"protein_id": "ENSP00000582852.1",
"transcript_support_level": null,
"aa_start": 114,
"aa_end": null,
"aa_length": 341,
"cds_start": 341,
"cds_end": null,
"cds_length": 1026,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912793.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUCLG1",
"gene_hgnc_id": 11449,
"hgvs_c": "c.341C>T",
"hgvs_p": "p.Thr114Met",
"transcript": "ENST00000900284.1",
"protein_id": "ENSP00000570343.1",
"transcript_support_level": null,
"aa_start": 114,
"aa_end": null,
"aa_length": 332,
"cds_start": 341,
"cds_end": null,
"cds_length": 999,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900284.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUCLG1",
"gene_hgnc_id": 11449,
"hgvs_c": "c.341C>T",
"hgvs_p": "p.Thr114Met",
"transcript": "ENST00000912791.1",
"protein_id": "ENSP00000582850.1",
"transcript_support_level": null,
"aa_start": 114,
"aa_end": null,
"aa_length": 321,
"cds_start": 341,
"cds_end": null,
"cds_length": 966,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912791.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUCLG1",
"gene_hgnc_id": 11449,
"hgvs_c": "c.341C>T",
"hgvs_p": "p.Thr114Met",
"transcript": "ENST00000949559.1",
"protein_id": "ENSP00000619618.1",
"transcript_support_level": null,
"aa_start": 114,
"aa_end": null,
"aa_length": 318,
"cds_start": 341,
"cds_end": null,
"cds_length": 957,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949559.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUCLG1",
"gene_hgnc_id": 11449,
"hgvs_c": "c.224C>T",
"hgvs_p": "p.Thr75Met",
"transcript": "ENST00000912792.1",
"protein_id": "ENSP00000582851.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 307,
"cds_start": 224,
"cds_end": null,
"cds_length": 924,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912792.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUCLG1",
"gene_hgnc_id": 11449,
"hgvs_c": "c.341C>T",
"hgvs_p": "p.Thr114Met",
"transcript": "ENST00000900285.1",
"protein_id": "ENSP00000570344.1",
"transcript_support_level": null,
"aa_start": 114,
"aa_end": null,
"aa_length": 283,
"cds_start": 341,
"cds_end": null,
"cds_length": 852,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900285.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SUCLG1",
"gene_hgnc_id": 11449,
"hgvs_c": "c.98-8002C>T",
"hgvs_p": null,
"transcript": "ENST00000912790.1",
"protein_id": "ENSP00000582849.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 182,
"cds_start": null,
"cds_end": null,
"cds_length": 549,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912790.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUCLG1",
"gene_hgnc_id": 11449,
"hgvs_c": "n.381C>T",
"hgvs_p": null,
"transcript": "ENST00000430989.1",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000430989.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUCLG1",
"gene_hgnc_id": 11449,
"hgvs_c": "n.*36C>T",
"hgvs_p": null,
"transcript": "ENST00000442240.5",
"protein_id": "ENSP00000403884.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000442240.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUCLG1",
"gene_hgnc_id": 11449,
"hgvs_c": "n.420C>T",
"hgvs_p": null,
"transcript": "ENST00000483605.5",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000483605.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUCLG1",
"gene_hgnc_id": 11449,
"hgvs_c": "n.513C>T",
"hgvs_p": null,
"transcript": "ENST00000491642.5",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000491642.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUCLG1",
"gene_hgnc_id": 11449,
"hgvs_c": "n.341C>T",
"hgvs_p": null,
"transcript": "ENST00000651342.1",
"protein_id": "ENSP00000498471.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000651342.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUCLG1",
"gene_hgnc_id": 11449,
"hgvs_c": "n.*36C>T",
"hgvs_p": null,
"transcript": "ENST00000442240.5",
"protein_id": "ENSP00000403884.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000442240.5"
}
],
"gene_symbol": "SUCLG1",
"gene_hgnc_id": 11449,
"dbsnp": "rs201224138",
"frequency_reference_population": 0.00036490607,
"hom_count_reference_population": 1,
"allele_count_reference_population": 589,
"gnomad_exomes_af": 0.000380349,
"gnomad_genomes_af": 0.00021668,
"gnomad_exomes_ac": 556,
"gnomad_genomes_ac": 33,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5051588416099548,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.597,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.0992,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": 0.07,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.126,
"phylop100way_prediction": "Uncertain_significance",
"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": -1,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BS1_Supporting",
"acmg_by_gene": [
{
"score": -1,
"benign_score": 1,
"pathogenic_score": 0,
"criteria": [
"BS1_Supporting"
],
"verdict": "Likely_benign",
"transcript": "NM_003849.4",
"gene_symbol": "SUCLG1",
"hgnc_id": 11449,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.341C>T",
"hgvs_p": "p.Thr114Met"
}
],
"clinvar_disease": "Mitochondrial DNA depletion syndrome 9,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:3",
"phenotype_combined": "not provided|Mitochondrial DNA depletion syndrome 9",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}