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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: 2-210298339-T-TACACAC (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=210298339&ref=T&alt=TACACAC&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 210298339,
"ref": "T",
"alt": "TACACAC",
"effect": "intron_variant",
"transcript": "NM_079420.3",
"consequences": [
{
"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": 7,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "MYL1",
"gene_hgnc_id": 7582,
"hgvs_c": "c.304+75_304+80dupGTGTGT",
"hgvs_p": null,
"transcript": "NM_079420.3",
"protein_id": "NP_524144.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 194,
"cds_start": null,
"cds_end": null,
"cds_length": 585,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000352451.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_079420.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "MYL1",
"gene_hgnc_id": 7582,
"hgvs_c": "c.304+80_304+81insGTGTGT",
"hgvs_p": null,
"transcript": "ENST00000352451.4",
"protein_id": "ENSP00000307280.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 194,
"cds_start": null,
"cds_end": null,
"cds_length": 585,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_079420.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000352451.4"
},
{
"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": 7,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "MYL1",
"gene_hgnc_id": 7582,
"hgvs_c": "c.172+80_172+81insGTGTGT",
"hgvs_p": null,
"transcript": "ENST00000341685.8",
"protein_id": "ENSP00000343321.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 150,
"cds_start": null,
"cds_end": null,
"cds_length": 453,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000341685.8"
},
{
"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": 7,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "MYL1",
"gene_hgnc_id": 7582,
"hgvs_c": "c.268+80_268+81insGTGTGT",
"hgvs_p": null,
"transcript": "ENST00000957378.1",
"protein_id": "ENSP00000627437.1",
"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": "ENST00000957378.1"
},
{
"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": 7,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "MYL1",
"gene_hgnc_id": 7582,
"hgvs_c": "c.172+75_172+80dupGTGTGT",
"hgvs_p": null,
"transcript": "NM_079422.3",
"protein_id": "NP_524146.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 150,
"cds_start": null,
"cds_end": null,
"cds_length": 453,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_079422.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "MYL1",
"gene_hgnc_id": 7582,
"hgvs_c": "n.435+80_435+81insGTGTGT",
"hgvs_p": null,
"transcript": "ENST00000484290.1",
"protein_id": null,
"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": "pseudogene",
"feature": "ENST00000484290.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "MYL1",
"gene_hgnc_id": 7582,
"hgvs_c": "n.407+80_407+81insGTGTGT",
"hgvs_p": null,
"transcript": "ENST00000496436.5",
"protein_id": null,
"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": "pseudogene",
"feature": "ENST00000496436.5"
},
{
"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": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ENSG00000279317",
"gene_hgnc_id": null,
"hgvs_c": "n.388+18478_388+18479insACACAC",
"hgvs_p": null,
"transcript": "ENST00000795993.1",
"protein_id": null,
"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": "pseudogene",
"feature": "ENST00000795993.1"
}
],
"gene_symbol": "MYL1",
"gene_hgnc_id": 7582,
"dbsnp": "rs112894708",
"frequency_reference_population": 0.15669872,
"hom_count_reference_population": 4098,
"allele_count_reference_population": 184168,
"gnomad_exomes_af": 0.156532,
"gnomad_genomes_af": 0.157865,
"gnomad_exomes_ac": 160923,
"gnomad_genomes_ac": 23245,
"gnomad_exomes_homalt": 2246,
"gnomad_genomes_homalt": 1852,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": -1.73,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -10,
"acmg_classification": "Benign",
"acmg_criteria": "BP6_Moderate,BA1",
"acmg_by_gene": [
{
"score": -10,
"benign_score": 10,
"pathogenic_score": 0,
"criteria": [
"BP6_Moderate",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_079420.3",
"gene_symbol": "MYL1",
"hgnc_id": 7582,
"effects": [
"intron_variant"
],
"inheritance_mode": "Unknown,AR",
"hgvs_c": "c.304+75_304+80dupGTGTGT",
"hgvs_p": null
},
{
"score": -10,
"benign_score": 10,
"pathogenic_score": 0,
"criteria": [
"BP6_Moderate",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000795993.1",
"gene_symbol": "ENSG00000279317",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.388+18478_388+18479insACACAC",
"hgvs_p": null
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "B:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}