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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: 16-89919709-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=89919709&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 89919709,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_002386.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MC1R",
"gene_hgnc_id": 6929,
"hgvs_c": "c.451C>T",
"hgvs_p": "p.Arg151Cys",
"transcript": "NM_002386.4",
"protein_id": "NP_002377.4",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 317,
"cds_start": 451,
"cds_end": null,
"cds_length": 954,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000555147.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002386.4"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MC1R",
"gene_hgnc_id": 6929,
"hgvs_c": "c.451C>T",
"hgvs_p": "p.Arg151Cys",
"transcript": "ENST00000555147.2",
"protein_id": "ENSP00000451605.1",
"transcript_support_level": 6,
"aa_start": 151,
"aa_end": null,
"aa_length": 317,
"cds_start": 451,
"cds_end": null,
"cds_length": 954,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002386.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000555147.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000198211",
"gene_hgnc_id": null,
"hgvs_c": "c.451C>T",
"hgvs_p": "p.Arg151Cys",
"transcript": "ENST00000556922.1",
"protein_id": "ENSP00000451560.1",
"transcript_support_level": 2,
"aa_start": 151,
"aa_end": null,
"aa_length": 797,
"cds_start": 451,
"cds_end": null,
"cds_length": 2394,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000556922.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MC1R",
"gene_hgnc_id": 6929,
"hgvs_c": "c.451C>T",
"hgvs_p": "p.Arg151Cys",
"transcript": "ENST00000555427.1",
"protein_id": "ENSP00000451760.1",
"transcript_support_level": 5,
"aa_start": 151,
"aa_end": null,
"aa_length": 382,
"cds_start": 451,
"cds_end": null,
"cds_length": 1149,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000555427.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MC1R",
"gene_hgnc_id": 6929,
"hgvs_c": "c.451C>T",
"hgvs_p": "p.Arg151Cys",
"transcript": "ENST00000639847.1",
"protein_id": "ENSP00000492011.1",
"transcript_support_level": 5,
"aa_start": 151,
"aa_end": null,
"aa_length": 317,
"cds_start": 451,
"cds_end": null,
"cds_length": 954,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000639847.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MC1R",
"gene_hgnc_id": 6929,
"hgvs_c": "c.451C>T",
"hgvs_p": "p.Arg151Cys",
"transcript": "ENST00000928269.1",
"protein_id": "ENSP00000598328.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 317,
"cds_start": 451,
"cds_end": null,
"cds_length": 954,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928269.1"
},
{
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000259006",
"gene_hgnc_id": null,
"hgvs_c": "n.*118G>A",
"hgvs_p": null,
"transcript": "ENST00000554623.1",
"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": "ENST00000554623.1"
}
],
"gene_symbol": "MC1R",
"gene_hgnc_id": 6929,
"dbsnp": "rs1805007",
"frequency_reference_population": 0.074864835,
"hom_count_reference_population": 5779,
"allele_count_reference_population": 120247,
"gnomad_exomes_af": 0.0778644,
"gnomad_genomes_af": 0.0462416,
"gnomad_exomes_ac": 113202,
"gnomad_genomes_ac": 7045,
"gnomad_exomes_homalt": 5550,
"gnomad_genomes_homalt": 229,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.007609128952026367,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.312,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1925,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.11,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 4.957,
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_002386.4",
"gene_symbol": "MC1R",
"hgnc_id": 6929,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.451C>T",
"hgvs_p": "p.Arg151Cys"
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000556922.1",
"gene_symbol": "ENSG00000198211",
"hgnc_id": null,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.451C>T",
"hgvs_p": "p.Arg151Cys"
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000554623.1",
"gene_symbol": "ENSG00000259006",
"hgnc_id": null,
"effects": [
"downstream_gene_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.*118G>A",
"hgvs_p": null
}
],
"clinvar_disease": " 5, MODIFIER OF, OCULOCUTANEOUS, TYPE II, cutaneous malignant, female-specific, red hair/fair skin, susceptibility to,ALBINISM,Increased analgesia from kappa-opioid receptor agonist,Melanoma,Skin/hair/eye pigmentation 2,not provided,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 B:5",
"phenotype_combined": "Skin/hair/eye pigmentation 2, red hair/fair skin|Increased analgesia from kappa-opioid receptor agonist, female-specific|ALBINISM, OCULOCUTANEOUS, TYPE II, MODIFIER OF|not specified|Melanoma, cutaneous malignant, susceptibility to, 5|not provided",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}