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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: 19-5679401-GA-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=5679401&ref=GA&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 5679401,
"ref": "GA",
"alt": "G",
"effect": "splice_region_variant,intron_variant",
"transcript": "NM_001308240.2",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MICOS13",
"gene_hgnc_id": 33702,
"hgvs_c": "c.208-6delT",
"hgvs_p": null,
"transcript": "NM_205767.3",
"protein_id": "NP_991330.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 118,
"cds_start": null,
"cds_end": null,
"cds_length": 357,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 516,
"mane_select": "ENST00000309324.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_205767.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MICOS13",
"gene_hgnc_id": 33702,
"hgvs_c": "c.208-6delT",
"hgvs_p": null,
"transcript": "ENST00000309324.9",
"protein_id": "ENSP00000309561.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 118,
"cds_start": null,
"cds_end": null,
"cds_length": 357,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 516,
"mane_select": "NM_205767.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000309324.9"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MICOS13",
"gene_hgnc_id": 33702,
"hgvs_c": "c.229delT",
"hgvs_p": "p.Ser77fs",
"transcript": "ENST00000896351.1",
"protein_id": "ENSP00000566410.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 127,
"cds_start": 229,
"cds_end": null,
"cds_length": 384,
"cdna_start": 249,
"cdna_end": null,
"cdna_length": 533,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896351.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "MICOS13",
"gene_hgnc_id": 33702,
"hgvs_c": "c.274-6delT",
"hgvs_p": null,
"transcript": "NM_001308240.2",
"protein_id": "NP_001295169.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 140,
"cds_start": null,
"cds_end": null,
"cds_length": 423,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 712,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001308240.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MICOS13",
"gene_hgnc_id": 33702,
"hgvs_c": "c.274-6delT",
"hgvs_p": null,
"transcript": "NM_001365761.2",
"protein_id": "NP_001352690.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 140,
"cds_start": null,
"cds_end": null,
"cds_length": 423,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 641,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001365761.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MICOS13",
"gene_hgnc_id": 33702,
"hgvs_c": "c.274-6delT",
"hgvs_p": null,
"transcript": "ENST00000587950.5",
"protein_id": "ENSP00000468723.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 140,
"cds_start": null,
"cds_end": null,
"cds_length": 423,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 655,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000587950.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MICOS13",
"gene_hgnc_id": 33702,
"hgvs_c": "c.274-6delT",
"hgvs_p": null,
"transcript": "ENST00000590389.5",
"protein_id": "ENSP00000465739.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 110,
"cds_start": null,
"cds_end": null,
"cds_length": 333,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 769,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000590389.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RPL36",
"gene_hgnc_id": 13631,
"hgvs_c": "c.-60+4434delA",
"hgvs_p": null,
"transcript": "ENST00000579649.5",
"protein_id": "ENSP00000462609.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 105,
"cds_start": null,
"cds_end": null,
"cds_length": 318,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 449,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000579649.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MICOS13",
"gene_hgnc_id": 33702,
"hgvs_c": "c.208-6delT",
"hgvs_p": null,
"transcript": "ENST00000587589.1",
"protein_id": "ENSP00000464857.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 88,
"cds_start": null,
"cds_end": null,
"cds_length": 267,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 577,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000587589.1"
},
{
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MICOS13",
"gene_hgnc_id": 33702,
"hgvs_c": "c.129+262delT",
"hgvs_p": null,
"transcript": "ENST00000917836.1",
"protein_id": "ENSP00000587895.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 47,
"cds_start": null,
"cds_end": null,
"cds_length": 144,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 299,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917836.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MICOS13",
"gene_hgnc_id": 33702,
"hgvs_c": "c.274-6delT",
"hgvs_p": null,
"transcript": "XM_011527675.3",
"protein_id": "XP_011525977.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 110,
"cds_start": null,
"cds_end": null,
"cds_length": 333,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 759,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011527675.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MICOS13",
"gene_hgnc_id": 33702,
"hgvs_c": "n.415delT",
"hgvs_p": null,
"transcript": "ENST00000590075.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 773,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000590075.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MICOS13",
"gene_hgnc_id": 33702,
"hgvs_c": "n.179-6delT",
"hgvs_p": null,
"transcript": "ENST00000585605.1",
"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": 586,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000585605.1"
}
],
"gene_symbol": "MICOS13",
"gene_hgnc_id": 33702,
"dbsnp": "rs532140719",
"frequency_reference_population": 0.0000013690623,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000136906,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": -0.24,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001308240.2",
"gene_symbol": "MICOS13",
"hgnc_id": 33702,
"effects": [
"splice_region_variant",
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.274-6delT",
"hgvs_p": null
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000579649.5",
"gene_symbol": "RPL36",
"hgnc_id": 13631,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.-60+4434delA",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}